中国汉族人群PGC-1α基因Thr394Thr和Gly482Ser变异在2型糖尿病家系中传递的不平衡分析  

The transmission disequilibrium analysis of Thr394Thr and Gly482Ser variation of the PGC-1αgene in type 2 diabetes family in Chinese Han population

作　　者：黄忠[1] 钟玫[1] 黄群[1] 林园梅[1] 路文盛[1] 

机构地区：[1]广西壮族自治区人民医院内分泌科,南宁530021

出　　处：《中国临床新医学》2012年第9期807-811,共5页CHINESE JOURNAL OF NEW CLINICAL MEDICINE

基　　金：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)

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。应用聚合酶链反应邛艮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（x2=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（x2=2．9557，P=0．0856，HRR=0．7638）。TDT分析提示，394Thr（A）-482Ser（A）单倍型在两组问分布差异有统计学意义（x2=33．160，P=0．002），且与2型糖尿病呈连锁不平衡关系（X2=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。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 arid their first-degree relatives were recruited in our study. Their blood specimens were col- lected 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 （X2 = 7. 2170, P = 0. 0072, HRR = 1. 4495）. TDT analyses revealed that 394Thr（A） -482Ser（A） haplotype was significant- ly more transmitted from heterozygous parents to patients than expected （X2 = 33. 160 ,P = 0. 002）. There was a link- age disequilibrium between the haplotype and type 2 diabetes （X2 = 4. 6841, P = 0. 0292）. Conclusion The co-varia- tion of 394A-482A may increase the risk of diabetes in the Chinese population.

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 

分 类 号：R587.1[医药卫生—内分泌]