PAX4 gene polymorphism and islet autoantibody-negative ketosis-prone diabetes
10.3969/j.issn.1672-7347.2010.03.005
- VernacularTitle:PAX4基因多态性与胰岛自身抗体阴性酮症倾向糖尿病的关系
- Author:
Min ZHOU
;
Ying ZHANG
;
Dongmei ZHANG
;
Jian LIN
;
Jianping WANG
;
Haifeng ZHOU
;
Zhiguang ZHOU
- Publication Type:Journal Article
- Keywords:
ketosis-prone diabetes;
paired box 4 gene;
polymorphism;
denaturing high performance liquid chromatography
- From:
Journal of Central South University(Medical Sciences)
2010;35(3):215-221
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate PAX4 gene polymorphism and its association with islet autoantibody-negative patients with ketosis-prone diabetes in Chinese Han population. Methods We screened the variation of exon 3 and 9 within PAX4 gene by denaturing high performance liquid chromatography(DHPLC) in 112 non-diabetes control subjects (NC group) and 141 patients with ketosis-prone diabetes (KPD group), who were both negative for glutamic acid decarboxylase antibody (GAD-Ab) as well as protein tyrosine phosphatase antibody (IA-2Ab) . The sequences of abnormal peaks were analyzed by DNA-sequencing. The A1168C single nucleotide polymorphism in PAX4 gene was genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 308 non-diabetic control subjects and 141 KPD patients. Results No variation was discovered in PAX4 gene exon 3 both in the patients and in the controls. There was a single nucleotide polymorphism locus A1168C in the PAX4 gene exon 9, which induced mis-sence mutation P321H(rs712701). No significant difference was observed in the genotype and allele frequencies of A1168C polymorphism between KPD patients and control subjects (P=0.532, 0.426). The difference was detected in the CC genotype and C allele frequencies in the KPD group when patients were stratified by gender (P=0.009,0.028). According to age at diagnosis, the difference was observed in the CC genotype and C allele frequencies between <20 years old and ≥20 years old in the KPD group (P=0.034,0.032). The level of FCP in the CC genotype group was significantly higher than that of FCP in AA genotype group (P=0.005). Conclusion A1168C polymorphism in PAX4 gene may not play an essential role in the genetic susceptibility of the islet autoantibody-negative KPD in Chinese Han population. However, A1168C variation may contribute to the predisposition to the male or <20 years old patients with islet autoantibody-negative KPD.
