Investigating the relationship between UMODL1 gene polymorphisms and high myopia: a case–control study in Chinese

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.

A novel missense mutation in the NYX gene associated with high myopia

“…The allele frequency of any sequence variation identified in the probands was determined in a group of 200 males without myopia by means of restriction fragment length polymorphism technique according to the protocols from the manufacturers (Fermantas, http://www.fermentas.lt or New England Biolabs, http://www.neb.com). Fragments for digestion were first amplified as described above with some modifications (see Table ), and digested products were pre‐stained with SYBR Green I before being separated by polyacrylamide gel electrophoresis . We also checked the 1000 Genomes Project database (http://www.1000genomes.org/) for the presence of sequence variations that were not found in these 200 Chinese emmetropes.…”

“… Genotyping by restriction fragment length polymorphism (RFLP) was carried out in a 15‐μL reaction mixture with an appropriate restriction enzyme (Fermentas or New England Biolabs, see the Table above) according to the manufacturers' instructions. After overnight digestion, the restricted fragments were pre‐stained with SYBR Green I for 15 min and then separated by electrophoresis in polyacrylamide gels prepared using a home‐made casting cassette . Genotypes were called according to the banding patterns observed. …”

Prevalence of and Factors Associated with Myopia in Inner Mongolia Medical Students in China, a cross-sectional study

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Overlapping variants in the blood, tissues and cell lines for patients with intracranial meningiomas are predominant in stem cell-related genes

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