Abstract
Purpose:
Our previous study has shown that single nucleotide polymorphism (SNP) rs6214 of the insulin-like growth factor-1 (IGF1) gene is associated with lens thickness, and rs3735520 of the hepatocyte growth factor (HGF) gene is associated with vitreous chamber depth. Herein we investigated the two SNPs and their interactive effect in genetic association with primary angle-closure glaucoma (PACG).
Methods:
In 266 unrelated controls and 400 PACG, the SNPs IGF1 rs6214 and HGF rs3735520 were genotyped were genotyped by Taqman assays. Disease associations were analyzed by logistic regression respectively, controlling sex and age. Odds ratio (OR) and its 95% confidence interval (95%CI) were calculated accordingly.
Results:
IGF1 rs6214 and HGF rs3735520 were associated with APACG (OR = 0.6, 95%CI: 0.4 - 1.0, P = 0.033 in the dominant model and OR = 1.4, 95%CI: 1.0 - 1.8, P = 0.040 in the additive model). Neither of the two SNPs was found to be associated with either CPACG or total PACG (all P > 0.05). However, IGF1 rs6214 showed significant interaction with HGF rs3735520 in PACG (P = 0.001), and in the two subgroups APACG and CPACG respectively (P = 0.040 and 0.003 respectively). The IGF1 rs6214 CC genotype combined with HGF rs3735520 AA conferred the most prominent protective effect in PACG, APACG and CPACG (OR = 0.3, 0.3 and 0.2 respectively).
Conclusions:
Combination of IGF rs6214 and HGF rs3735520 SNPs showed strong interaction in genetic association with PACG, indicating diversified effects of these ocular biometric parameter-related genes in the complex genetics of angle-closure glaucoma.
Keywords: 539 genetics •
536 gene modifiers •
629 optic nerve