title: No association between the SNPs (rs56134796; rs3824934; rs41302375) in the TRPC6 gene promoter and infantile hypertrophic pyloric stenosis in Chinese people.
abstract: OBJECTIVE
  Our aim is to verify the association of three Single nucleotide polymorphisms (SNPs) (-218A/G, -254C/G, -361A/T) in the promoter of TRPC6 in 168 sporadic cases with infantile hypertrophic pyloric stenosis (IHPS) and 164 controls in Chinese people.
  
  
  METHODS
  All participants were genotyped using polymerase chain reaction and direct sequencing. And the χ(2) value was calculated. A value of P less than 0.05 was considered statistically significant. We also got the P value of Hardy-Weinberg equilibrium test, and the value of P greater than 0.05 was assumed to be at Hardy-Weinberg equilibrium in this population.
  
  
  RESULTS
  The results tell us that there are no significant differences in the allele and genotype frequencies of all these three SNPs between the case and the control groups (P > 0.05).
  
  
  CONCLUSIONS
  These three TRPC6 SNPs have no association with the IHPS in Chinese people. However, we cannot deny that TRPC6 would be a susceptible gene with IHPS in Chinese people. May be other SNPs in TRPC6 would have some association with the IHPS in Chinese people. But in this study our results may be due to the fact that these SNPs are not the functional SNPs for the development of IHPS in Chinese people.
authors.affiliation: Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang, 110004, People's Republic of China.
authors.forename: Jun-Jie
authors.initials: JJ
authors.lastname: Ju
authors.forename: Hong
authors.initials: H
authors.lastname: Gao
authors.forename: Hui
authors.initials: H
authors.lastname: Li
authors.forename: Yao
authors.initials: Y
authors.lastname: Lu
authors.forename: Li-Li
authors.initials: LL
authors.lastname: Wang
authors.forename: Zheng-Wei
authors.initials: ZW
authors.lastname: Yuan
mesh_terms: D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D046248:Pyloric Stenosis, Hypertrophic / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D050052:TRPC Cation Channels / Q000097:blood / Q000235:genetics*; D000074287:TRPC6 Cation Channel
chemical_list: D050052:TRPC Cation Channels; D000074287:TRPC6 Cation Channel; C117032:TRPC6 protein, human; D004247:DNA