Abstract
BackgroundThe UMODL1 gene was found to be associated with high myopia in Japanese. This study aimed to investigate this gene for association with high myopia in Chinese.MethodsTwo groups of unrelated Han Chinese from Hong Kong were recruited using the same criteria: Sample Set 1 comprising 356 controls (spherical equivalent, SE, within ±1 diopter or D) and 356 cases (SE ≤ −8D), and Sample Set 2 comprising 394 controls and 526 cases. Fifty-nine tag single nucleotide polymorphisms (SNPs) were selected and genotyped for Sample Set 1. Four SNPs were followed up with Sample Set 2. Both single-marker and haplotype analyses were performed with cases defined by different SE thresholds. Secondary phenotypes were also analyzed for association with genotypes.ResultsData filtering left 57 SNPs for analysis. Single-marker analysis did not reveal any significant differences between cases and controls in the initial study. However, haplotype GCT for markers rs220168-rs220170-rs11911271 showed marginal significance (empirical P = 0.076; SE ≤ −12D for cases), but could not be replicated in the follow-up study. In contrast, non-synonymous SNP rs3819142 was associated with high myopia (SE ≤ −10D) in the follow-up study, but could not be confirmed using Sample Set 1. The SNP rs2839471, positive in the original Japanese study, gave negative results in all our analyses. Exploratory analysis of secondary phenotypes indicated that allele C of rs220120 was associated with anterior chamber depth (adjusted P = 0.0460).ConclusionsCommon UMODL1 polymorphisms were unlikely to be important in the genetic susceptibility to high myopia in Han Chinese.
Highlights
The uromodulin-like 1 (UMODL1) gene was found to be associated with high myopia in Japanese
In conclusion, we systematically investigated the common polymorphisms of the UMODL1 gene for association with high myopia by genotyping 59 single nucleotide polymorphisms (SNPs) in the initial study and 4 SNPs in the follow-up study
Exploratory association analysis of secondary phenotypes indicated the rs220120 was associated with anterior chamber depth (ACD)
Summary
The UMODL1 gene was found to be associated with high myopia in Japanese. This study aimed to investigate this gene for association with high myopia in Chinese. High myopia is often defined as a refractive error of −6.0 diopters (D) or worse, and severely myopic eyes are vulnerable to many ocular pathologies [1]. Myopia is a complex disease caused by both genetic and environmental factors plus their interactions the exact etiology is still unclear [4,5]. High heritability observed in many twin and family studies provides convincing evidence that genetic factors play a strong role in the development of myopia [6,7]. Genetic association studies are more powerful than linkage analysis in detecting genes with relatively small effects in complex diseases [5]. Candidate gene studies remain important for hunting predisposing factors for complex diseases
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