| 摘要: |
| ［摘要］ 目的 了解中国汉族人群PGC-1α基因Thr394Thr和Gly482Ser变异与2型糖尿病的相关关系。方法 招募350名中国南方汉族2型糖尿病先证者及其一级亲属，抽提外周血DNA。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)分析和DNA直接测序技术鉴定PGC-1α基因型。基于2型糖尿病家系，采用单倍型相对危险度分析（HRR）和传递不平衡检验（TDT）方法分析Thr394Thr和Gly482Ser变异及其单倍型与2型糖尿病的关系。结果 基于2型糖尿病家系的HRR分析显示，PGC-1α基因482Ser（A）等位基因更多向子代传递（χ2=7.2170，P=0.0072，HRR=1.4496），而Thr394Thr（G/A）等位基因在传递与未传递两组间分布频率差异无统计学意义（χ2=2.9557，P=0.0856，HRR=0.7638）。TDT分析提示，394Thr（A）-482Ser（A）单倍型在两组间分布差异有统计学意义（χ2=33.160，P=0.002），且与2型糖尿病呈连锁不平衡关系（χ2=4.6841，P=0.0292）。结论 394A-482A联合变异可能增加了中国人患糖尿病的风险。 |
| 关键词: PGC-1α基因 单核苷酸多态性 单倍型相对危险度 传递不平衡检验 2型糖尿病 |
| DOI：10.3969/j.issn.1674-3806.2012.09.01 |
| 分类号:R 587.1 |
| 基金项目:国家自然科学基金资助项目（编号：30860113）；广西卫生厅重点科研课题（编号：桂卫重200736）；广西卫生厅科研课题（编号：Z2007144） |
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| The transmission disequilibrium analysis of Thr394Thr and Gly482Ser variation of the PGC-1α gene in type 2 diabetes family in Chinese Han population |
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HUANG Zhong, ZHONG Mei,HUANG Qun, et al.
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Department of Endocrinology，the People′s Hospital of Guangxi Zhuang Autonomous Region，Nanning 530021，China
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| Abstract: |
| ［Abstract］ Objective To investigate the relationship between Thr394Thr and Gly482Ser of the PGC-1α gene and type 2 diabetes in a family-based association study in the southern Chinese population.Methods Three hundred and fifty patients and their first-degree relatives were recruited in our study. Their blood specimens were collected to extract the genomic DNA. The genotypes of the polymorphisms Thr394Thr（G/A）and Gly482Ser（G/A）of the PGC-1α gene were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)and direct sequencing. The results were analyzed by transmission disequilibrium test (TDT) and haplotype relative risk (HRR).Results HRR revealed that the 482A allele was more often transmitted to patients (χ2=7.2170，P=0.0072，HRR=1.4496). TDT analyses revealed that 394Thr（A）-482Ser（A）haplotype was significantly more transmitted from heterozygous parents to patients than expected (χ2=33.160，P=0.002). There was a linkage disequilibrium between the haplotype and type 2 diabetes（χ2=4.6841，P=0.0292）.Conclusion The co-variation of 394A-482A may increase the risk of diabetes in the Chinese population. |
| Key words: PGC-1α gene Single nucleotide polymorphism HRR TDT Type 2 diabetic mellitus |
