The association of the PAX4 gene with type 1 diabetes in Han Chinese.
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.
Zhang
Yun
Y
Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, PR China.
Xiao
Xinhua
X
Liu
Ying
Y
Zhu
Xilin
X
Wenhui
Li
L
Li
Naishi
N
Yuan
Tao
T
Wang
Heng
H
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
D017931:DNA Primers; D018398:Homeodomain Proteins; C491709:PAX4 protein, human; D051761:Paired Box Transcription Factors