Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States.
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Pasquale Louis R, Loomis Stephanie J, Weinreb Robert N, Kang Jae H, Yaspan Brian L, Bailey Jessica Cooke, Gaasterland Douglas, Gaasterland Terry, Lee Richard K, Scott William K, Lichter Paul R, Budenz Donald L, Liu Yutao, Realini Tony, Friedman David S, McCarty Catherine A, Moroi Sayoko E, Olson Lana, Schuman Joel S, Singh Kuldev, Vollrath Douglas, Wollstein Gadi, Zack Donald J, Brilliant Murray, Sit Arthur J, Christen William G, Fingert John, Kraft Peter, Zhang Kang, Allingham R Rand, Pericak-Vance Margaret A, Richards Julia E, Hauser Michael A, Haines Jonathan L, Wiggs Janey L
Аннотация
METHODS: We included 3,108 POAG cases and 3,430 controls of both genders from the Glaucoma Genes and Environment (GLAUGEN) study and the National Eye Institute Glaucoma Human Genetics Collaboration (NEIGHBOR) consortium genotyped on the Illumina 660W-Quad platform. We assessed the relation between the SNP panels representative of estrogen metabolism and POAG using pathway- and gene-based approaches with the Pathway Analysis by Randomization Incorporating Structure (PARIS) software. PARIS executes a permutation algorithm to assess statistical significance relative to the pathways and genes of comparable genetic architecture. These analyses were performed using the meta-analyzed results from the GLAUGEN and NEIGHBOR data sets. We evaluated POAG overall as well as two subtypes of POAG defined as intraocular pressure (IOP) ≥22 mmHg (high-pressure glaucoma [HPG]) or IOP <22 mmHg (normal pressure glaucoma [NPG]) at diagnosis. We conducted these analyses for each gender separately and then jointly in men and women.
RESULTS: Among women, the estrogen SNP pathway was associated with POAG overall (permuted p=0.006) and HPG (permuted p<0.001) but not NPG (permuted p=0.09). Interestingly, there was no relation between the estrogen SNP pathway and POAG when men were considered alone (permuted p>0.99). Among women, gene-based analyses revealed that the catechol-O-methyltransferase gene showed strong associations with HTG (permuted gene p≤0.001) and NPG (permuted gene p=0.01).
CONCLUSIONS: The estrogen SNP pathway was associated with POAG among women.