›› 2011, Vol. 31 ›› Issue (6): 778-.doi: 10.3969/j.issn.1674-8115.2011.06.021

• 论著(临床研究) • 上一篇    下一篇

中国人早发2型糖尿病PAX4基因多态性及临床表型特点

陆 明, 刘丽梅, 陆玉凤, 郑泰山, 李 鸣, 陈 虹   

  1. 上海交通大学附属第六人民医院内分泌代谢科 上海市糖尿病研究所, 上海 200233
  • 出版日期:2011-06-28 发布日期:2011-06-27
  • 通讯作者: 刘丽梅, 电子信箱: lmliu@sjtu.edu.cn。
  • 作者简介:陆 明(1984—), 女, 硕士生;电子信箱: lumingwyp@yahoo.com.cn。
  • 基金资助:

    国家自然科学基金(30771022)和上海市优秀学科带头人计划-上海市科委基金(10XD1403400)

PAX4 gene polymorphism and clinical characteristics of early-onset type 2 diabetes in Chinese

LU Ming, LIU Li-mei, LU Yu-feng, ZHENG Tai-shan, LI Ming, CHEN Hong   

  1. Shanghai Diabetes Institute, Department of Endocrinology and Metabolism, the Sixth People's Hospital, Shanghai Jiaotong University, Shanghai 200233, China
  • Online:2011-06-28 Published:2011-06-27
  • Supported by:

    National Natural Science Foundation of China, 30771022;Shanghai Science and Technology Committee Foundation, 10XD1403400

摘要:

目的 研究早发2型糖尿病患者成对盒4(PAX4)基因外显子3和9的多态及临床表型特点。方法 以96例早发2型糖尿病患者(早发糖尿病组,n=96)和100名口服葡萄糖耐量试验正常者(对照组)作为研究对象。采用聚合酶链反应(PCR)直接测序法对两组人群PAX4基因外显子3和9的基因多态进行筛查,对基因型、等位基因分布频率以及临床表型变量进行统计学分析。结果 两组人群检出位于PAX4基因外显子9的His321Pro (A→C)多态,外显子3未检出多态。早发糖尿病组PAX4基因外显子9 His321Pro (A→C)多态CC基因型和C等位基因分布频率(16.7%和41.1%)高于对照组(11.0%和34.0%),但差异无统计学意义(P>0.05);本研究对照人群PAX4基因外显子9的His321Pro (A→C)多态CC基因型及C等位基因分布频率显著低于瑞士、德国、芬兰和匈牙利相关研究的正常对照人群(P<0.001)。早发糖尿病组与对照组PAX4基因外显子9 His321Pro (A→C)多态纯合子CC基因型携带者空腹C肽水平显著低于AA和AC基因型携带者(P<0.05)。结论PAX4基因多态性可能不是中国人早发2型糖尿病的遗传易感标志。PAX4基因外显子9的His321Pro(A→C)多态可能与空腹胰岛素分泌受损有关。

关键词: PAX4基因, His321Pro (A→C)多态, 早发2型糖尿病

Abstract:

Objective To screen the polymorphism in exon 3 and 9 of paired box4 (PAX4) gene and investigate the clinical characteristics of early-onset type 2 diabetes in Chinese. Methods Ninety-six patients with early-onset type 2 diabetes (early-onset diabetes group) and 100 people with normal results in oral glucose tolerance test (control group) were enrolled. PCR-direct sequencing was employed to detect polymorphism in exon 3 and 9 of PAX4 gene in two groups, and genotypic and allelic frequencies and clinical characteristics were statistically analysed.ResultsHis321Pro (A→C)polymorphism in exon 9 of PAX4 gene was detected in both groups, while no polymorphism was found in exon 3 of the gene. In comparison with control group, higher frequencies of CC genotype and C allele of His321Pro (A→C) polymorphism in exon 9 of PAX4 gene were detected in early-onset diabetes group, while there was no significant difference between groups (16.7% vs 11.0% and 41.1% vs 34.0%, P>0.05 for both). The frequencies of CC genotype and C allele of His321Pro (A→C) polymorphism in exon 9 of PAX4 gene in controls of this study were significantly lower than those in studies of Switzerland, Germany, Finland and Hungary (P<0.001). The fasting C peptide (FCP) levels of homozygous CC genotype carriers were significantly lower than those of AA and AC genotype carriers with His321Pro (A→C) polymorphism in exon 9 of PAX4 gene in early-onset diabetes group and control group (P<0.05). Conclusion PAX4 gene polymorphism may not be the genetic susceptibility marker associated with the development of early-onset type 2 diabetes in Chinese. His321Pro (A→C)polymorphism in exon 9 of PAX4 gene may be associate with impaired fasting insulin secretion.

Key words: PAX4 gene, His321Pro (A→C) polymorphism, early-onset type 2 diabetes