title: [Screening of variation in the promoter of PPARGC1A gene and study of its association with the risk of type 2 diabetes in ethnic Hans from Beijing].
abstract: OBJECTIVE
  To study the baseline distribution of polymorphisms in the promoter of peroxisome proliferators activated receptor co-activator 1 (PPARGC1A) gene in ethnic Hans from Beijing, and to assess their association with type 2 diabetes (T2DM).
  
  
  METHODS
  A 2-stage study was designed. Firstly, the promoter region of PPAGC1A gene was screened with PCRRFLP in a small population (n=216, T2DM/control: 104/112), which was followed by a replication study of a larger group (n=1546, T2DM/control: 732/814). Fasting plasma glucose, insulin, blood lipid, height, weight, waist circumference, and blood pressure were measured in all subjects. Potential association was assessed by logistic regression. Linkage disequilibrium and haplotype analysis were conducted with Haploview software.
  
  
  RESULTS
  Five polymorphisms were identified with Sanger sequencing, among which T-2120C (rs3755857), -1999C/G (rs2946386) and -1437T/C (rs2970870) were included for genotypic analysis based on their moderate levels of heterozygosity. No significant difference was found between the two groups. When adjusted for age and gender confounding, we have combined the OR values from population 1 and population 2 based on Mantel-Haenszel fixed model, and recognized a mild contribution of C allele of -1999C/G (rs2946386) to the 1.18-fold risk of T2DM (P=0.03, OR=118). No haplotype was associated with T2DM after permutation correction.
  
  
  CONCLUSIONS
  The C allele of -1999C/G ( rs2946386) in the promoter region of the PPARGC1A gene is mildly associated with T2DM. Variations in the promoter region of the PPARGC1A gene seem not to confer the risk of T2DM in our population.
authors.affiliation: Key Laboratory of Geriatrics, Beijing Hospital and Beijing Institute of Geriatrics, Ministry of Health, Beijing 100730, P.R. China. Email: yang_ze@sina.com.
authors.forename: Liang
authors.initials: L
authors.lastname: Sun
authors.forename: Songlan
authors.initials: S
authors.lastname: Wang
authors.forename: Yanchun
authors.initials: Y
authors.lastname: Qu
authors.forename: Hong
authors.initials: H
authors.lastname: Sun
authors.forename: Xiaoxia
authors.initials: X
authors.lastname: Wang
authors.forename: Xiaohong
authors.initials: X
authors.lastname: Shi
authors.forename: Xiaoquan
authors.initials: X
authors.lastname: Zhu
authors.forename: Lei
authors.initials: L
authors.lastname: Tang
authors.forename: Ze
authors.initials: Z
authors.lastname: Yang
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D001786:Blood Glucose / Q000378:metabolism; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D001786:Blood Glucose; D008055:Lipids; C486497:PPARGC1A protein, human; D000071248:Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha; D014157:Transcription Factors