title: Polymorphism at the mucin-like protocadherin gene influences susceptibility to gallstone disease.
abstract: BACKGROUND
  Gallstone disease (GSD) is a common disease that can be caused by environmental influences, common genetic factors and their interactions. Mucin glycoproteins may be one important factor for GSD. We conducted a case-control study to investigate the relationship between the mucin-like protocadherin (MUPCDH) gene polymorphisms and GSD.
  
  
  METHODS
  The study included 452 GSD cases and 491 healthy controls who had no evidence of gallstones by ultrasound examination. Two common tagging single nucleotide polymorphism (SNP) rs3758650 and rs7932167, and four non-synonymous SNPs rs34362213, rs2740375, rs7108757 and rs2740379 were genotyped. The genetic effects were evaluated using the multivariate regression model.
  
  
  RESULTS
  The genotypes of these SNPs were all in Hardy-Weinberg equilibrium. Three non-synonymous SNPs (rs34362213, rs7108757 and rs2740379) were monomorphic. The single SNP analysis showed two SNPs (rs7932167 and rs2740375) were not associated with GSD and only SNP rs3758650 had the association of the presence of GSD with an odds ratio (OR) of 1.59 (adjusted P=0.013) for the AG genotype and 5.82 (adjusted P=0.007) for the AA genotype when compared with the reference GG genotype. The haplotype analysis of the three polymorphic SNPs showed GCA was significant for GSD (adjusted p=0.001) with an odds ratio (OR) of 1.41 when compared to other haplotypes.
  
  
  CONCLUSIONS
  The MUPCDH genetic polymorphism rs3758650 was considered a genetic marker to predict symptomatic GSD subjects. It may be of importance for GSD patients with the risk SNPs to be frequently checked because they may develop symptomatic GSD.
authors.affiliation: Department of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Shih-Chang
authors.initials: SC
authors.lastname: Chuang
authors.forename: Edward
authors.initials: E
authors.lastname: Hsi
authors.forename: Shen-Nien
authors.initials: SN
authors.lastname: Wang
authors.forename: Ming-Lung
authors.initials: ML
authors.lastname: Yu
authors.forename: King-Teh
authors.initials: KT
authors.lastname: Lee
authors.forename: Suh-Hang Hank
authors.initials: SH
authors.lastname: Juo
mesh_terms: D000328:Adult; D000368:Aged; D015820:Cadherins / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D042882:Gallstones / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D009077:Mucins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D015820:Cadherins; D009077:Mucins