title: The association of the PAX4 gene with type 1 diabetes in Han Chinese.
abstract: OBJECTIVE
  In present study, we aimed to evaluate whether the paired box gene 4 (PAX4) may play a role in the pathogenesis of type 1 diabetes (T1D) in Chinese Han population.
  
  
  METHODS
  One hundred and thirty-four cases with T1D and 324 non-diabetic control subjects were selected randomly from Han Chinese. Three tag single nucleotide polymorphisms (SNPs, rs712701, rs2233580, rs2233575) according to HapMap data were selected to analyze. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to genotype.
  
  
  RESULTS
  No difference was found in genotype or allele frequencies between patients and non-diabetic controls in all three SNPs. No difference was found in common haplotypes constructed by these three SNPs, either. For the SNP rs2233575, in non-diabetic controls, the carriers with AA and GA genotypes had lower plasma insulin level than the subjects with GG genotype (P=0.048).
  
  
  CONCLUSIONS
  The present study identified that the PAX4 gene was not associated with the risk of T1D in a Han Chinese sample, suggesting that it is unlikely to have a major effect on the susceptibility to T1D in this population. This is the first study on the PAX4 gene in a Chinese population.
authors.affiliation: Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, PR China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Zhang
authors.forename: Xinhua
authors.initials: X
authors.lastname: Xiao
authors.forename: Ying
authors.initials: Y
authors.lastname: Liu
authors.forename: Xilin
authors.initials: X
authors.lastname: Zhu
authors.forename: Li
authors.initials: L
authors.lastname: Wenhui
authors.forename: Naishi
authors.initials: N
authors.lastname: Li
authors.forename: Tao
authors.initials: T
authors.lastname: Yuan
authors.forename: Heng
authors.initials: H
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D001794:Blood Pressure; D002681:China; D017931:DNA Primers; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D051761:Paired Box Transcription Factors / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012016:Reference Values
chemical_list: D017931:DNA Primers; D018398:Homeodomain Proteins; C491709:PAX4 protein, human; D051761:Paired Box Transcription Factors