About My Research
Center/Research Area Affiliations
Biography
Dr. Wiggs is Associate Chief of Ophthalmology Clinical Research and Associate Director of the Howe Laboratory at Mass. Eye and Ear, as well as Vice Chair of Clinical Research at Harvard Medical School. She also serves as Associate Director of the Harvard Ophthalmology Glaucoma Center of Excellence and Ocular Genomics Institute.
Dr. Wiggs studies genetic risk factors for various types of glaucoma. She is the principal investigator of the NIH funded NEIGHBORHOOD consortium as well as an NIH-funded study to identify genetic and environmental risk factors for exfoliation syndrome and exfoliation glaucoma. She recently was awarded an NIH grant to study genetic risk factors associated with loss of central vision in glaucoma. Other ongoing studies in the laboratory includethe identification of genes contributing to early-onset forms of glaucoma (congenital, juvenile and developmental glaucoma) as well as pigment dispersion syndrome and pigmentary glaucoma and the identification of genes that contribute to ocular quantitative traits using a cohort of consanguineous families from India.
Education
1976: BA, Biochemistry, University of California, Berkeley
1981: PhD, Biochemistry, University of California, Berkeley
1985: MD, Harvard Medical School
Postgraduate Training
1987: Fellowship, Molecular Genetics, Massachusetts Eye and Ear
1990: Residency, Harvard Ophthalmology
1991: Fellowship, Molecular Genetics, Massachusetts Eye and Ear
1992: Fellowship, Glaucoma, Massachusetts Eye and Ear
1996: Fellowship, Medical Genetics, Tufts Medical School
Academic Appointments
2015-present: Paul Chandler Professor of Ophthalmology, Harvard Medical School
2012-2015: Paul Austin Chandler Associate Professor of Ophthalmology, Harvard Medical School
2005-2011: Associate Professor of Ophthalmology, Harvard Medical School
2001-2005: Assistant Professor of Ophthalmology, Harvard Medical School
1993-2001: Assistant Professor of Ophthalmology and Genetics, Tufts Medical School
1992-1993: Instructor in Ophthalmology, Harvard Medical School
- Genetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-Analysis. JAMA Ophthalmol. 2024 Mar 28.
- Association of retinal optical coherence tomography metrics and polygenic risk scores with cognitive function and future cognitive decline. Br J Ophthalmol. 2024 Mar 20; 108(4):599-606.
- Polygenic Risk Scores for Glaucoma Onset in the Ocular Hypertension Treatment Study. JAMA Ophthalmol. 2024 Mar 14.
- Relationship between Oral Health and Glaucoma Traits in the United Kingdom. J Glaucoma. 2024 Mar 05.
- Machine Learning-Derived Baseline Visual Field Patterns Predict Future Glaucoma Onset in the Ocular Hypertension Treatment Study. Invest Ophthalmol Vis Sci. 2024 Feb 01; 65(2):35.
- Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic health. Sci Transl Med. 2024 Jan 24; 16(731):eadg4517.
- Genetic Basis of Pigment Dispersion Syndrome and Pigmentary Glaucoma: An Update and Functional Insights. Genes (Basel). 2024 Jan 23; 15(2).
- A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. Cell. 2024 01 18; 187(2):464-480.e10.
- Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma. Nat Commun. 2024 Jan 09; 15(1):396.
- WITHDRAWN: Genome-wide risk prediction of primary open-angle glaucoma across multiple ancestries. medRxiv. 2023 Nov 30.
- TIE1 and TEK signalling, intraocular pressure, and primary open-angle glaucoma: a Mendelian randomization study. J Transl Med. 2023 11 24; 21(1):847.
- Ophthalmol Sci. 2024 May-Jun; 4(3):100436.
- Calcium Channel Blocker Use and Associated Glaucoma and Related Traits Among UK Biobank Participants. JAMA Ophthalmol. 2023 Oct 01; 141(10):956-964.
- Mechanosensitive ion channel gene survey suggests potential roles in primary open angle glaucoma. Sci Rep. 2023 09 23; 13(1):15871.
- Deep Ocular Phenotyping Across Primary Open-Angle Glaucoma Genetic Burden. JAMA Ophthalmol. 2023 09 01; 141(9):891-899.
- Automated detection of genetic relatedness from fundus photographs using Siamese Neural Networks. medRxiv. 2023 Aug 23.
- Polygenic Risk Score Improves Prediction of Primary Open Angle Glaucoma Onset in the Ocular Hypertension Treatment Study. medRxiv. 2023 Aug 16.
- Metabolite and Lipid Biomarkers Associated With Intraocular Pressure and Inner Retinal Morphology: 1H NMR Spectroscopy Results From the UK Biobank. Invest Ophthalmol Vis Sci. 2023 08 01; 64(11):11.
- Rare protective variants and glaucoma-relevant cell stressors modulate Angiopoietin-like 7 expression. Hum Mol Genet. 2023 07 20; 32(15):2523-2531.
- Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci. Nat Genet. 2023 07; 55(7):1116-1125.
- Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome. Front Genet. 2023; 14:1174046.
- The Association of Physical Activity with Glaucoma and Related Traits in the UK Biobank. Ophthalmology. 2023 10; 130(10):1024-1036.
- Plasma metabolite profile for primary open-angle glaucoma in three US cohorts and the UK Biobank. Nat Commun. 2023 05 19; 14(1):2860.
- Insights into human health from phenome- and genome-wide analyses of UK Biobank retinal optical coherence tomography phenotypes. medRxiv. 2023 May 17.
- Disentangling the genetic overlap and causal relationships between primary open-angle glaucoma, brain morphology and four major neurodegenerative disorders. EBioMedicine. 2023 Jun; 92:104615.
- Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Netw Open. 2023 05 01; 6(5):e2312231.
- Mitochondrial TXNRD2 and ME3 Genetic Risk Scores Are Associated with Specific Primary Open-Angle Glaucoma Phenotypes. Ophthalmology. 2023 Jul; 130(7):756-763.
- Genetic Associations Between Smoking- and Glaucoma-Related Traits. Transl Vis Sci Technol. 2023 02 01; 12(2):20.
- Diversity in Polygenic Risk of Primary Open-Angle Glaucoma. Genes (Basel). 2022 12 30; 14(1).
- The Association of Alcohol Consumption with Glaucoma and Related Traits: Findings from the UK Biobank. Ophthalmol Glaucoma. 2023 Jul-Aug; 6(4):366-379.
- Thrombospondin 1 missense alleles induce extracellular matrix protein aggregation and TM dysfunction in congenital glaucoma. J Clin Invest. 2022 12 01; 132(23).
- Long-term Alcohol Consumption and Risk of Exfoliation Glaucoma or Glaucoma Suspect Status among United States Health Professionals. Ophthalmology. 2022 Aug 28.
- Prediagnostic Plasma Metabolomics and the Risk of Exfoliation Glaucoma. Invest Ophthalmol Vis Sci. 2022 08 02; 63(9):15.
- Cohort Study of Race/Ethnicity and Incident Primary Open-Angle Glaucoma Characterized by Autonomously Determined Visual Field Loss Patterns. Transl Vis Sci Technol. 2022 07 08; 11(7):21.
- Interaction of background genetic risk, psychotropic medications, and primary angle closure glaucoma in the UK Biobank. PLoS One. 2022; 17(6):e0270530.
- The Association of Female Reproductive Factors with Glaucoma and Related Traits: A Systematic Review. Ophthalmol Glaucoma. 2022 Nov-Dec; 5(6):628-647.
- EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma. Hum Mutat. 2022 Sep; 43(9):1343.
- The genetic basis for adult onset glaucoma: Recent advances and future directions. Prog Retin Eye Res. 2022 09; 90:101066.
- Statin Use in Relation to Intraocular Pressure, Glaucoma, and Ocular Coherence Tomography Parameters in the UK Biobank. Invest Ophthalmol Vis Sci. 2022 05 02; 63(5):31.
- The Association between Serum Lipids and Intraocular Pressure in 2 Large United Kingdom Cohorts. Ophthalmology. 2022 09; 129(9):986-996.
- Head and Neck Region Dermatological Ultraviolet-Related Cancers are Associated with Exfoliation Syndrome in a Clinic-Based Population. Ophthalmol Glaucoma. 2022 Nov-Dec; 5(6):663-671.
- Background polygenic risk modulates the association between glaucoma and cardiopulmonary diseases and measures: an analysis from the UK Biobank. Br J Ophthalmol. 2023 08; 107(8):1112-1118.
- A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes. Cold Spring Harb Mol Case Stud. 2022 02; 8(2).
- Photoreceptor Layer Thinning Is an Early Biomarker for Age-Related Macular Degeneration: Epidemiologic and Genetic Evidence from UK Biobank OCT Data. Ophthalmology. 2022 06; 129(6):694-707.
- Glaucoma Cascade Screening in a High Risk Afro-Caribbean Haitian Population: A Pilot Study. J Glaucoma. 2022 07 01; 31(7):584-589.
- Alcohol, Intraocular Pressure, and Open-Angle Glaucoma: A Systematic Review and Meta-analysis. Ophthalmology. 2022 06; 129(6):637-652.
- The genetics of glaucoma: Disease associations, personalised risk assessment and therapeutic opportunities-A review. Clin Exp Ophthalmol. 2022 03; 50(2):143-162.
- Genome-Wide Association Study Identifies Two Common Loci Associated with Pigment Dispersion Syndrome/Pigmentary Glaucoma and Implicates Myopia in its Development. Ophthalmology. 2022 06; 129(6):626-636.
- EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma. Hum Mutat. 2022 02; 43(2):240-252.
- Deep Learning of the Retina Enables Phenome- and Genome-Wide Analyses of the Microvasculature. Circulation. 2022 01 11; 145(2):134-150.
- Correction: Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. PLoS Genet. 2021 Oct; 17(10):e1009858.
- Identification of Estrogen Signaling in a Prioritization Study of Intraocular Pressure-Associated Genes. Int J Mol Sci. 2021 Sep 24; 22(19).
- Juvenile-onset open-angle glaucoma - A clinical and genetic update. Surv Ophthalmol. 2022 Jul-Aug; 67(4):1099-1117.
- Development of Primary Open Angle Glaucoma-Like Features in a Rhesus Macaque Colony From Southern China. Transl Vis Sci Technol. 2021 08 02; 10(9):20.
- Prospective study of dietary intake of branched-chain amino acids and the risk of primary open-angle glaucoma. Acta Ophthalmol. 2022 May; 100(3):e760-e769.
- Exome-based investigation of the genetic basis of human pigmentary glaucoma. BMC Genomics. 2021 Jun 26; 22(1):477.
- The Heritability of Primary Angle Closure Anatomic Traits and Predictors of Angle Closure in South Indian Siblings. Am J Ophthalmol. 2021 10; 230:188-199.
- Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images. PLoS Genet. 2021 05; 17(5):e1009497.
- DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber's hereditary optic neuropathy. J Clin Invest. 2021 03 15; 131(6).
- Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank. Ophthalmology. 2021 09; 128(9):1300-1311.
- Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. Nat Commun. 2021 02 24; 12(1):1258.
- Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye. JAMA. 2021 02 23; 325(8):753-764.
- The GGLEAM Study: Understanding Glaucoma in the Ohio Amish. Int J Environ Res Public Health. 2021 02 06; 18(4).
- Intraocular Pressure, Glaucoma, and Dietary Caffeine Consumption: A Gene-Diet Interaction Study from the UK Biobank. Ophthalmology. 2021 06; 128(6):866-876.
- Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE e4. Invest Ophthalmol Vis Sci. 2020 07 01; 61(8):3.
- CPAMD8, a New Gene for Anterior Segment Dysgenesis and Childhood Glaucoma. Ophthalmology. 2020 06; 127(6):767-768.
- Cohort Study of Nonmelanoma Skin Cancer and the Risk of Exfoliation Glaucoma. J Glaucoma. 2020 06; 29(6):448-455.
- Notice of Retraction and Replacement. Kang et al. Association of statin use and high serum cholesterol levels with risk of primary open-angle glaucoma. JAMA Ophthalmol. 2019;137(7):756-765. JAMA Ophthalmol. 2020 05 01; 138(5):588-589.
- Association of the CAV1-CAV2 locus with normal-tension glaucoma in Chinese and Japanese. Clin Exp Ophthalmol. 2020 07; 48(5):658-665.
- Cohort Study of Non-melanoma Skin Cancer and the Risk of Exfoliation Glaucoma. J Glaucoma. 2020 Mar 20.
- Low-carbohydrate-diet scores and the risk of primary open-angle glaucoma: data from three US cohorts. Eye (Lond). 2020 08; 34(8):1465-1475.
- Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression. Nat Genet. 2020 02; 52(2):160-166.
- Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. Ophthalmic Genet. 2019 12; 40(6):570-573.
- Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss. Exp Eye Res. 2020 01; 190:107893.
- Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Commun Biol. 2019; 2:435.
- Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. Commun Biol. 2019 Nov 27; 2(1):435.
- Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. JAMA. 2019 11 05; 322(17):1682-1691.
- Clinical implications of recent advances in primary open-angle glaucoma genetics. Eye (Lond). 2020 01; 34(1):29-39.
- Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis. JAMA Ophthalmol. 2019 Oct 01; 137(10):1190-1194.
- The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome. Hum Mol Genet. 2019 08 01; 28(15):2531-2548.
- Fish and marine fatty acids intakes, the FADS genotypes and long-term weight gain: a prospective cohort study. BMJ Open. 2019 07 31; 9(7):e022877.
- Association of Statin Use and High Serum Cholesterol Levels With Risk of Primary Open-Angle Glaucoma. JAMA Ophthalmol. 2019 07 01; 137(7):756-765.
- Muir-Torre Syndrome: The Importance of a Detailed Family History. Case Rep Ophthalmol. 2019 May-Aug; 10(2):180-185.
- Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes. Am J Ophthalmol. 2019 10; 206:245-255.
- Myocilin Mutations in Patients With Normal-Tension Glaucoma. JAMA Ophthalmol. 2019 05 01; 137(5):559-563.
- Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma. Hum Mol Genet. 2019 04 15; 28(8):1298-1311.
- The Genetic Influence on Corticosteroid-Induced Ocular Hypertension: A Field Positioned for Discovery. Am J Ophthalmol. 2019 06; 202:1-5.
- Association of Long-term Ambient Black Carbon Exposure and Oxidative Stress Allelic Variants With Intraocular Pressure in Older Men. JAMA Ophthalmol. 2019 02 01; 137(2):129-137.
- Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 2019 01 08; 10(1):155.
- Association of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese. Exp Eye Res. 2019 03; 180:129-136.
- Diet quality and genetic association with body mass index: results from 3 observational studies. Am J Clin Nutr. 2018 12 01; 108(6):1291-1300.
- Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations. Hum Genet. 2018 Oct; 137(10):847-862.
- Sex hormone levels and risk of primary open-angle glaucoma in postmenopausal women. Menopause. 2018 10; 25(10):1116-1123.
- LOXL1 Polymorphisms: Genetic Biomarkers that Presage Environmental Determinants of Exfoliation Syndrome. J Glaucoma. 2018 07; 27 Suppl 1:S20-S23.
- A Role for Clusterin in Exfoliation Syndrome and Exfoliation Glaucoma? J Glaucoma. 2018 07; 27 Suppl 1:S61-S66.
- Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma. Nat Genet. 2018 06; 50(6):778-782.
- Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nat Commun. 2018 05 14; 9(1):1864.
- Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus. Invest Ophthalmol Vis Sci. 2018 05 01; 59(6):2495-2502.
- Resting nailfold capillary blood flow in primary open-angle glaucoma. Br J Ophthalmol. 2019 02; 103(2):203-207.
- Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma. Hum Mol Genet. 2018 04 15; 27(8):1486-1496.
- Prospective study of flavonoid intake and risk of primary open-angle glaucoma. Acta Ophthalmol. 2018 Sep; 96(6):e692-e700.
- Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma. Sci Rep. 2018 02 15; 8(1):3124.
- Genomic loci modulating retinal ganglion cell death following elevated IOP in the mouse. Exp Eye Res. 2018 04; 169:61-67.
- Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets. Invest Ophthalmol Vis Sci. 2018 02 01; 59(2):629-636.
- Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma. PLoS Genet. 2018 01; 14(1):e1007145.
- Fundus Densitometry Findings Suggest Optic Disc Hemorrhages in Primary Open-Angle Glaucoma Have an Arterial Origin. Am J Ophthalmol. 2018 03; 187:108-116.
- Thin minimal rim width at Bruch's membrane opening is associated with glaucomatous paracentral visual field loss. Clin Ophthalmol. 2017; 11:2157-2167.
- Progress in Diagnostic Genetic Testing for Inherited Eye Disease. JAMA Ophthalmol. 2017 12 01; 135(12):1385-1386.
- Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility. Nat Commun. 2017 11 24; 8(1):1755.
- Angiopoietin-1 is required for Schlemm's canal development in mice and humans. J Clin Invest. 2017 12 01; 127(12):4421-4436.
- Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis. Eur J Hum Genet. 2017 11; 25(11):1261-1267.
- Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status. Mol Vis. 2017; 23:548-560.
- Genetics of glaucoma. Hum Mol Genet. 2017 08 01; 26(R1):R21-R27.
- Genetic Susceptibility, Change in Physical Activity, and Long-term Weight Gain. Diabetes. 2017 10; 66(10):2704-2712.
- Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nat Genet. 2017 07; 49(7):993-1004.
- Habitual coffee consumption and genetic predisposition to obesity: gene-diet interaction analyses in three US prospective studies. BMC Med. 2017 05 09; 15(1):97.
- Reply. Ophthalmology. 2017 05; 124(5):e50-e51.
- A comprehensive survey of genetic variation in 20,691 subjects from four large cohorts. PLoS One. 2017; 12(3):e0173997.
- Biological aspects of axonal damage in glaucoma: A brief review. Exp Eye Res. 2017 04; 157:5-12.
- Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample. Menopause. 2017 02; 24(2):150-156.
- New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics. Hum Mol Genet. 2017 01 15; 26(2):438-453.
- Nailfold capillary morphology in exfoliation syndrome. Eye (Lond). 2017 May; 31(5):698-707.
- Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos. Hum Mol Genet. 2016 11 15; 25(22):5035-5045.
- Primary open-angle glaucoma. Nat Rev Dis Primers. 2016 09 22; 2:16067.
- Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos. Hum Mol Genet. 2016 Sep 20.
- Demographic, Systemic, and Ocular Factors Associated with Nonarteritic Anterior Ischemic Optic Neuropathy. Ophthalmology. 2016 12; 123(12):2446-2455.
- Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium. PLoS Genet. 2016 09; 12(9):e1006186.
- Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses. Invest Ophthalmol Vis Sci. 2016 Sep 01; 57(11):5046-5052.
- Prospective Study of Oral Health and Risk of Primary Open-Angle Glaucoma in Men: Data from the Health Professionals Follow-up Study. Ophthalmology. 2016 11; 123(11):2318-2327.
- Clinical Correlates of Computationally Derived Visual Field Defect Archetypes in Patients from a Glaucoma Clinic. Curr Eye Res. 2017 04; 42(4):568-574.
- A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium. Invest Ophthalmol Vis Sci. 2016 08 01; 57(10):4528-4535.
- Contribution of the Nurses' Health Study to the Epidemiology of Cataract, Age-Related Macular Degeneration, and Glaucoma. Am J Public Health. 2016 Sep; 106(9):1684-9.
- Quality Control for the Illumina HumanExome BeadChip. Curr Protoc Hum Genet. 2016 07 01; 90:2.14.1-2.14.16.
- Association of Matrix Metalloproteinase-9 (MMP9) Variants with Primary Angle Closure and Primary Angle Closure Glaucoma. PLoS One. 2016; 11(6):e0157093.
- Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest. 2016 07 01; 126(7):2575-87.
- Four Susceptibility Loci for Gallstone Disease Identified in a Meta-analysis of Genome-Wide Association Studies. Gastroenterology. 2016 Aug; 151(2):351-363.e28.
- Association of Dietary Nitrate Intake With Primary Open-Angle Glaucoma: A Prospective Analysis From the Nurses' Health Study and Health Professionals Follow-up Study. JAMA Ophthalmol. 2016 Mar; 134(3):294-303.
- Drug-induced Bilateral Secondary Angle-Closure Glaucoma: A Literature Synthesis. J Glaucoma. 2016 Feb; 25(2):e99-105.
- Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet. 2016 Feb; 48(2):189-94.
- Translating the Low Translaminar Cribrosa Pressure Gradient Hypothesis into the Clinical Care of Glaucoma. Semin Ophthalmol. 2016; 31(1-2):131-9.
- Is Estrogen a Therapeutic Target for Glaucoma? Semin Ophthalmol. 2016; 31(1-2):140-6.
- Exfoliation syndrome: assembling the puzzle pieces. Acta Ophthalmol. 2016 Sep; 94(6):e505-12.
- Nailfold Capillary Abnormalities in Primary Open-Angle Glaucoma: A Multisite Study. Invest Ophthalmol Vis Sci. 2015 Nov; 56(12):7021-8.
- Author Response: Comparison of Risk Factor Profiles for Primary Open-Angle Glaucoma Subtypes Defined by Pattern of Visual Field Loss: True Risk Factors or Arbituary Definition? Invest Ophthalmol Vis Sci. 2015 Oct; 56(11):6532-3.
- Mitochondrial Genetics and Optic Neuropathy. Annu Rev Vis Sci. 2015 Nov 24; 1:97-124.
- Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. Exp Eye Res. 2015 Oct; 139:115-22.
- Glaucoma Genes and Mechanisms. Prog Mol Biol Transl Sci. 2015; 134:315-42.
- Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications. Cold Spring Harb Perspect Med. 2015 Jul 01; 5(7):a017277.
- Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nat Genet. 2015 Jun; 47(6):689.
- DNA Methylation Variants at HIF3A Locus, B-Vitamin Intake, and Long-term Weight Change: Gene-Diet Interactions in Two U.S. Cohorts. Diabetes. 2015 Sep; 64(9):3146-54.
- Bupropion use and risk of open-angle glaucoma among enrollees in a large U.S. managed care network. PLoS One. 2015; 10(4):e0123682.
- A common variant near TGFBR3 is associated with primary open angle glaucoma. Hum Mol Genet. 2015 Jul 01; 24(13):3880-92.
- Comparison of Risk Factor Profiles for Primary Open-Angle Glaucoma Subtypes Defined by Pattern of Visual Field Loss: A Prospective Study. Invest Ophthalmol Vis Sci. 2015 Apr; 56(4):2439-48.
- Characterization of large structural genetic mosaicism in human autosomes. Am J Hum Genet. 2015 Mar 05; 96(3):487-97.
- A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome. Nat Genet. 2015 Apr; 47(4):387-92.
- Patterns of functional vision loss in glaucoma determined with archetypal analysis. J R Soc Interface. 2015 Feb 06; 12(103).
- Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. Genet Epidemiol. 2015 Mar; 39(3):207-16.
- Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier. Bioinformatics. 2015 Apr 15; 31(8):1310-2.
- Solar exposure and residential geographic history in relation to exfoliation syndrome in the United States and Israel. JAMA Ophthalmol. 2014 Dec; 132(12):1439-45.
- DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2014 Nov 20; 55(12):8251-8.
- Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. Genet Med. 2015 Apr; 17(4):253-261.
- Prospects for gene-environment interactions in exfoliation syndrome. J Glaucoma. 2014 Oct-Nov; 23(8 Suppl 1):S64-7.
- Expression and regulation of LOXL1 and elastin-related genes in eyes with exfoliation syndrome. J Glaucoma. 2014 Oct-Nov; 23(8 Suppl 1):S62-3.
- Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014 Sep 22; 5:4883.
- Common and rare genetic risk factors for glaucoma. Cold Spring Harb Perspect Med. 2014 Sep 18; 4(12):a017244.
- Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. Nat Genet. 2014 Oct; 46(10):1120-1125.
- Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. Nat Genet. 2014 Oct; 46(10):1126-1130.
- Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma. Hum Genet. 2014 Oct; 133(10):1319-30.
- Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc. 2014 Jul; 112:94-102.
- A survey of preoperative blood tests in primary open-angle glaucoma patients versus cataract surgery patients. Digit J Ophthalmol. 2014; 20(2):20-8.
- Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma. PLoS Genet. 2014; 10(5):e1004372.
- Relation between time spent outdoors and exfoliation glaucoma or exfoliation glaucoma suspect. Am J Ophthalmol. 2014 Sep; 158(3):605-14.e1.
- A prospective study of folate, vitamin B6, and vitamin B12 intake in relation to exfoliation glaucoma or suspected exfoliation glaucoma. JAMA Ophthalmol. 2014 May; 132(5):549-59.
- Fried food consumption, genetic risk, and body mass index: gene-diet interaction analysis in three US cohort studies. BMJ. 2014 Mar 19; 348:g1610.
- Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma. Eye (Lond). 2014 Jun; 28(6):662-71.
- Disruption of the blood-aqueous barrier and lens abnormalities in mice lacking lysyl oxidase-like 1 (LOXL1). Invest Ophthalmol Vis Sci. 2014 Feb 10; 55(2):856-64.
- Consideration for gene-environment interactions as novel determinants of exfoliation syndrome. Int Ophthalmol Clin. 2014; 54(4):29-41.
- Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss. Ophthalmology. 2014 Feb; 121(2):508-16.
- Genetic testing for inherited eye disease: who benefits? JAMA Ophthalmol. 2013 Oct; 131(10):1265-6.
- Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci. 2013 Sep 17; 54(9):6248-54.
- Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet. 2014 Jan; 133(1):41-57.
- The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables. J Glaucoma. 2013 Sep; 22(7):517-25.
- The genetics of intraocular pressure. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):301-5.
- Advances in the genomics of common eye diseases. Hum Mol Genet. 2013 Oct 15; 22(R1):R59-65.
- Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States. Mol Vis. 2013; 19:1471-81.
- Variations in COL15A1 and COL18A1 influence age of onset of primary open angle glaucoma. Clin Genet. 2013 Aug; 84(2):167-74.
- Soluble Guanylate Cyclase a1-Deficient Mice: a novel murine model for Primary Open Angle Glaucoma. Ann Neurosci. 2013 Apr; 20(2):65-6.
- Soluble guanylate cyclase a1-deficient mice: a novel murine model for primary open angle glaucoma. PLoS One. 2013; 8(3):e60156.
- A nested case control study of plasma ICAM-1, E-selectin and TNF receptor 2 levels, and incident primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2013 Mar 11; 54(3):1797-804.
- Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013 Feb; 45(2):155-63.
- CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States. Am J Ophthalmol. 2013 Feb; 155(2):342-353.e5.
- The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma. PLoS One. 2012; 7(9):e45613.
- The Relationship between caffeine and coffee consumption and exfoliation glaucoma or glaucoma suspect: a prospective study in two cohorts. Invest Ophthalmol Vis Sci. 2012 Sep 21; 53(10):6427-33.
- Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. Mol Vis. 2012; 18:2241-6.
- Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci. 2012 Jul 03; 53(8):4468-74.
- Effects of caffeinated coffee consumption on intraocular pressure, ocular perfusion pressure, and ocular pulse amplitude: a randomized controlled trial. Eye (Lond). 2012 Aug; 26(8):1122-30.
- Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet. 2012 May 06; 44(6):642-50.
- The cell and molecular biology of complex forms of glaucoma: updates on genetic, environmental, and epigenetic risk factors. Invest Ophthalmol Vis Sci. 2012 May 04; 53(5):2467-9.
- Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet. 2012; 8(4):e1002654.
- Demographic and geographic features of exfoliation glaucoma in 2 United States-based prospective cohorts. Ophthalmology. 2012 Jan; 119(1):27-35.
- Reproductive factors and NOS3 variant interactions in primary open-angle glaucoma. Mol Vis. 2011; 17:2544-51.
- Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma in Caucasians from the USA. Hum Mol Genet. 2011 Dec 01; 20(23):4707-13.
- Geographic and climatic factors associated with exfoliation syndrome. Arch Ophthalmol. 2011 Aug; 129(8):1053-60.
- Genome-wide linkage scan for primary open angle glaucoma: influences of ancestry and age at diagnosis. PLoS One. 2011; 6(7):e21967.
- Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with hypertension, alcohol intake, and cigarette smoking. Arch Ophthalmol. 2011 Jun; 129(6):773-80.
- LOXL1 promoter haplotypes are associated with exfoliation syndrome in a U.S. Caucasian population. Invest Ophthalmol Vis Sci. 2011 Apr; 52(5):2372-8.
- Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population. Invest Ophthalmol Vis Sci. 2011 Mar 28; 52(3):1788-92.
- Infectious theories of Posner-Schlossman syndrome. Int Ophthalmol Clin. 2011; 51(4):105-15.
- Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. Mol Vis. 2010 Oct 29; 16:2185-91.
- Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus. Cornea. 2010 Oct; 29(10):1180-5.
- Glaucoma: genes, phenotypes, and new directions for therapy. J Clin Invest. 2010 Sep; 120(9):3064-72.
- Lack of association of polymorphisms in elastin with pseudoexfoliation syndrome and glaucoma. J Glaucoma. 2010 Sep; 19(7):432-6.
- Genotypes need phenotypes. Arch Ophthalmol. 2010 Jul; 128(7):934-5.
- Feasibility of High-Throughput Genome-Wide Genotyping using DNA from Stored Buccal Cell Samples. Biomark Insights. 2010 May 20; 5:49-55.
- The Gene, Environment Association Studies consortium (GENEVA): maximizing the knowledge obtained from GWAS by collaboration across studies of multiple conditions. Genet Epidemiol. 2010 May; 34(4):364-72.
- Endothelial nitric oxide synthase gene variants and primary open-angle glaucoma: interactions with sex and postmenopausal hormone use. Invest Ophthalmol Vis Sci. 2010 Feb; 51(2):971-9.
- Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma. Mol Vis. 2008; 14:2484-91.
- Fine mapping of the GLC1K juvenile primary open-angle glaucoma locus and exclusion of candidate genes. Mol Vis. 2008 Jul 21; 14:1319-26.
- Lack of association between LOXL1 variants and primary open-angle glaucoma in three different populations. Invest Ophthalmol Vis Sci. 2008 Aug; 49(8):3465-8.
- Association Between LOXL1 and pseudoexfoliation. Arch Ophthalmol. 2008 Mar; 126(3):420-1.
- Genomic promise: personalized medicine for ophthalmology. Arch Ophthalmol. 2008 Mar; 126(3):422-3.
- DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity. BMC Med Genet. 2008 Feb 06; 9:5.
- No association between OPA1 polymorphisms and primary open-angle glaucoma in three different populations. Mol Vis. 2007 Nov 26; 13:2137-41.
- Macular degeneration: risk factors for progression. Arch Ophthalmol. 2007 Sep; 125(9):1264-5.
- Investigation of founder effects for the Thr377Met Myocilin mutation in glaucoma families from differing ethnic backgrounds. Mol Vis. 2007 Mar 28; 13:487-92.
- Genetic etiologies of glaucoma. Arch Ophthalmol. 2007 Jan; 125(1):30-7.
- Ophthalmic genetics: at the dawn of discovery. Arch Ophthalmol. 2007 Jan; 125(1):9-10.
- Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. J Glaucoma. 2006 Oct; 15(5):358-63.
- Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2006 Jun; 47(6):2542-6.
- Complement factor H and macular degeneration: the genome yields an important clue. Arch Ophthalmol. 2006 Apr; 124(4):577-8.
- Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities. Am J Ophthalmol. 2006 Mar; 141(3):566-567.
- Genes associated with human glaucoma. Ophthalmol Clin North Am. 2005 Sep; 18(3):335-43, v.
- Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest Ophthalmol Vis Sci. 2005 Jun; 46(6):2002-5.
- A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12. Am J Hum Genet. 2004 Jun; 74(6):1314-20.
- Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil. J Med Genet. 2004 Jan; 41(1):e6.
- Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma. Arch Ophthalmol. 2003 Aug; 121(8):1181-3.
- DNA sequence variants in the tyrosinase-related protein 1 (TYRP1) gene are not associated with human pigmentary glaucoma. Mol Vis. 2002 Apr 24; 8:127-9.
- Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet. 2002 Jan; 30(1):81-5.
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- Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology. 1995 Dec; 102(12):1782-9.
- Exclusion of chromosome 1q21-q31 from linkage to three pedigrees affected by the pigment-dispersion syndrome. Am J Hum Genet. 1995 May; 56(5):1240-3.
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The Wiggs laboratory works on the identification of genetic factors that predispose to both mendelian and complex forms glaucoma. The identification of genes that can cause glaucoma will provide critical information regarding the biology of the disease as well as provide the basis for accurate methods of diagnosis and new and specific therapies.
Current investigations are focused on the genetic etiologies of adult onset primary open angle glaucoma (POAG), pseudoexfoliation glaucoma, pigment dispersion syndrome and pigmentary glaucoma, glaucoma associated with Rieger syndrome and other anterior segment dysgenesis syndromes and juvenile open angle glaucoma. As part of these studies the laboratory has developed a registry of over 2,000 early and adult onset glaucoma patients. Dr. Wiggs has been continuously funded from the National Eye Institute for over 15 years. In addition to current R01 and R21 funding, she is a member of the NEI supported eyeGENE genotyping project for inherited ocular diseases.