三个 SIRT1 基因的单核苷酸变异与中国人超重有关：一项病例对照研究。

Three single nucleotide variants of the SIRT1 gene are associated with overweight in a Chinese population: a case control study.

机构信息

Department of Endocrinology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.

出版信息

Endocr J. 2012;59(3):229-37. doi: 10.1507/endocrj.ej11-0234. Epub 2012 Jan 7.

DOI:10.1507/endocrj.ej11-0234

PMID:22230810

Abstract

We aimed to explore whether common allelic variations in the SIRT1 gene were associated with excess body weight in a Chinese cohort. Using standard molecular techniques 820 non-diabetic individuals, some of who were classified as overweight (> 23 Kg/m(2)), were genotyped for four haplotype-tagged single nucleotide polymorphisms. The rs10509291AA and rs10823116GG genotypes were associated with high body mass index (BMI) > 23 Kg/m(2), and the rs7894483TT genotype was associated with lower BMI (< 23 Kg/m(2)). The rs10509291AT genotype was associated with a modestly higher risk of being overweight, consistent with the presence of an rs10509291A being a dominant or semi-dominant allele. The ATAA (rs7894483/rs10823116) and ATAG haplotypes were associated with a higher risk of being overweight (OR: 17.11 and 5.12) compared with the AAAG haplotype (P <0.01). Thus, the rs10509291, rs7894483, and rs10823116 alleles were associated with a high BMI (> 23 Kg/m(2)) and with overweight in this non-diabetic Chinese population.

摘要

我们旨在探讨 SIRT1 基因中的常见等位基因变异是否与中国人群中体重超重有关。使用标准分子技术对 820 名非糖尿病个体进行基因分型，其中一些个体被归类为超重（>23 Kg/m²），对四个单核苷酸多态性的单体型标签进行基因分型。rs10509291AA 和 rs10823116GG 基因型与高体重指数（BMI）>23 Kg/m²相关，rs7894483TT 基因型与低 BMI（<23 Kg/m²）相关。rs10509291AT 基因型与超重的风险略高相关，与 rs10509291A 是显性或半显性等位基因一致。与 AAAG 单倍型相比，ATAA（rs7894483/rs10823116）和 ATAG 单倍型与超重的风险更高（OR：17.11 和 5.12）（P<0.01）。因此，rs10509291、rs7894483 和 rs10823116 等位基因与高 BMI（>23 Kg/m²）和该非糖尿病中国人群中的超重有关。