title: Investigating the relationship between UMODL1 gene polymorphisms and high myopia: a case-control study in Chinese.
abstract: BACKGROUND
  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.
  
  
  METHODS
  Two 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.
  
  
  RESULTS
  Data 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).
  
  
  CONCLUSIONS
  Common UMODL1 polymorphisms were unlikely to be important in the genetic susceptibility to high myopia in Han Chinese.
authors.affiliation: Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China.
authors.forename: Miao-miao
authors.initials: MM
authors.lastname: Zhu
authors.forename: Maurice K H
authors.initials: MK
authors.lastname: Yap
authors.forename: Daniel W H
authors.initials: DW
authors.lastname: Ho
authors.forename: Wai Yan
authors.initials: WY
authors.lastname: Fung
authors.forename: Po Wah
authors.initials: PW
authors.lastname: Ng
authors.forename: Yang-shun
authors.initials: YS
authors.lastname: Gu
authors.forename: Shea Ping
authors.initials: SP
authors.lastname: Yip
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data; D002135:Calcium-Binding Proteins / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies / Q000706:statistics & numerical data; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006723:Hong Kong / Q000453:epidemiology; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009216:Myopia / Q000453:epidemiology / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D002135:Calcium-Binding Proteins; D008565:Membrane Proteins; C488198:UMODL1 protein, human