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Gene and Environment in Primary Open Angle Glaucoma

Louis Robert Pasquale, M.D.

Assistant Professor of Ophthalmology Harvard Medical School

The major aim of my research is to determine whether specific gene-environment interactions are determinants of primary open angle glaucoma (POAG) in two large, well-established, aging cohorts (the Nurses Health Study and the Health Professionals Follow-up Study). A wealth of prospectively obtained environmental data and biomarker specimens are amassed in these cohorts. From these cohorts we have performed a myriad of cohort studies to assess the relation between environmental exposures and incident POAG. We have also formed a prospective nested case-control sample drawn from our cohorts to evaluate the relation between candidate gene-environment interactions and POAG.
Currently we are assessing the relation between nitric oxide synthase 3 (NOS3) gene variants and POAG. We have genotyped members of our case control sample for two functional single nucleotide polymorphisms (SNPs) and 3 tagging SNPs in NOS3. A gene association analysis is in progress. Subsequently we will assess the interaction between the NOS3 haplotypes and postmenopausal hormone use (PMH) in POAG. Previously we showed that among post-menopausal women older than 65 years old, older age of menopause was associated with a reduced risk of POAG.1 Specifically, we will explore if PMH use among postmenopausal women with selected NOS3 genotypes is associated with an additive or multiplicative inverse risk of POAG in nested case control analyses. Finally, we will assess the interaction between the NOS3 haplotypes and alcohol intake in POAG. Previously we showed that moderate to high consumption of alcohol was associated with inverse risk of POAG that was not statistically significant.2 Specifically, we will explore if high alcohol consumption among subjects with selected NOS3 genotypes is associated with an additive or multiplicative inverse risk of POAG in nested case-control analyses.

1. Pasquale LR, Rosner BA, Hankinson SE, Kang JH. Attributes of female reproductive aging and their relation to primary open angle glaucoma: a prospective study. J of Glaucoma 2007;16:598-605.
2. Kang JH, Willett WC, Rosner BA, Hankinson SE, Pasquale LR. Prospective study of alcohol consumption and the risk of primary open-angle glaucoma. Ophthalmic Epidemiology. 2007;14(3):141