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 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 352-356, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-291773
ABSTRACT
<p><b>OBJECTIVE</b>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).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fatores de Transcrição
/
Variação Genética
/
Sangue
/
Glicemia
/
Etnicidade
/
Estudos de Casos e Controles
/
China
/
Regiões Promotoras Genéticas
/
Polimorfismo de Nucleotídeo Único
/
Povo Asiático
Tipo de estudo:
Estudo diagnóstico
/
Estudo de etiologia
/
Estudo observacional
/
Estudo prognóstico
/
Fatores de risco
/
Estudo de rastreamento
Limite:
Adulto
/
Idoso
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS