The Gly146Ala variation in human SF-1 gene: its association with insulin resistance and type 2 diabetes in Chinese.
The Gly146Ala variation in human SF-1 gene: its association with insulin resistance and type 2 diabetes in Chinese.
复制标题
人类 SF-1 基因中的 Gly146Ala 变异：其与中国人胰岛素抵抗和 2 型糖尿病的关系。
DOI：
10.1016/j.diabres.2006.02.007
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发表时间：
2006-09
期刊：
影响因子：
--
通讯作者：
刘伟
中科院分区：
文献类型：
--
作者：
刘伟
虽然甾体生成因子1 （SF-1）传统上是甾体生成组织必不可少的核受体，但目前新兴的研究表明，该受体也与代谢密切相关。SF-1基因突变会导致人类和小鼠肥胖等代谢紊乱。本研究的目的是研究SF-1基因的Gly146Ala变异是否影响2型糖尿病的易感性。已知Gly146Ala变异会损害SF-1功能并与肾上腺疾病有关。方法收集汉族2型糖尿病患者151例和非糖尿病对照141例，采用PCR-RFLP方法对SF-1基因型进行分析。结果Gly146Ala基因变异在汉族人群中较为常见。对照组Ala等位基因频率（27.3%）显著低于2型糖尿病组（37.1%,χ2=6.37, p=0.01）。糖尿病患者的Gly/Ala和Ala/Ala基因型频率也较高。在糖尿病和对照人群中，携带等位基因Ala的受试者与不携带等位基因的受试者相比，空腹胰岛素水平和HOMA值更高。结论SF-1 Gly146Ala基因变异可能是2型糖尿病发病和胰岛素作用受损的易感因素。
AIMSWhile steroidogenic factor 1 (SF-1) is traditionally an essential nuclear receptor for steroidogenic tissues, current emerging studies revealed that the receptor is also closely implicated in metabolism. Mutations of SF-1 gene cause metabolic disorders like obesity in both human and mice. The aim of the present study is to examine whether the Gly146Ala variation in the gene for SF-1, that is known to impair SF-1 function and related to adrenal disorders, affects susceptibility to type 2 diabetes.METHODSHundred and fifty-one type 2 diabetic subjects and 141 non-diabetic control subjects of Han Chinese were recruited and the SF-1 genotype were analyzed by PCR-RFLP method.RESULTSThe Gly146Ala variation occurs frequently in the Han Chinese. Allele Ala frequency in the control subjects (27.3%) was significantly lower than that in type 2 diabetic subjects (37.1%, χ2=6.37, p=0.01). The Gly/Ala and Ala/Ala genotypes frequencies were also higher in diabetic subjects. In both the diabetic and control populations, subjects carrying allele Ala, as compared to those not, had higher fasting insulin levels and higher HOMA values.CONCLUSIONSThe SF-1 Gly146Ala variation may constitute a susceptible factor for development of type 2 diabetes and impairment of insulin actions.
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影响因子：
64.8
作者：
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通讯作者：
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影响因子：
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DOI：
10.1016/j.bbrc.2003.10.096
发表时间：
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影响因子：
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