Abstract
Purpose :
To evaluate the associations of single-nucleotide polymorphisms (SNPs) in HTRA1 and myopia in Chinese.
Methods :
Totally 25 SNPs of the HTRA1 gene were selected, including 23 haplotype-tagging SNPs, SNP rs2142308 from a previous genome-wide association study (GWAS) of myopia, and rs11200638 which is known to be associated with age-related macular degeneration (AMD). All SNPs were genotyped in a Hong Kong Chinese cohort of 533 myopia subjects (including 175 high myopia, 189 moderate myopia and 189 mild myopia) and 280 non-myopic controls. Association of individual SNPs were evaluated in overall myopia and in different subgroups of myopia using logistic regression.
Results :
The tagging SNP rs11200647 was significantly associated with myopia (P < 0.002, OR = 0.67). Nominal associations were detected for the AMD-associated SNP rs11200638 (P < 0.05, OR = 1.37), and the tagging SNPs rs12266322 (P < 0.05, OR = 0.59) and rs17103569 (P < 0.05, OR = 1.34). The association of rs11200647 with myopia remained significant after adjusting for rs11200638, rs12266322 and rs17103569. In sub-group analysis, 2 tagging SNPs rs11200647 (P < 0.002, OR = 0.58) and rs12266322 (P < 0.002, OR = 0.39) showed significant association with moderate myopia. In haplotype association analysis, haplotype AT (P < 0.05, OR = 1.77) and haplotype GT (P < 0.05, OR = 0.64) defined by rs11200647 and rs66884382 were associated with myopia.
Conclusions :
This study indicated that HTRA1 is a protective gene for myopia, especially for moderate myopia, suggesting that myopia and AMD may have shared genetic components.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.