A 5-year follow-up study of 3 polymorphisms in the human glucocorticoid receptor gene in relation to obesity, hypertension, and diabetes.
A 5-year follow-up study of 3 polymorphisms in the human glucocorticoid receptor gene in relation to obesity, hypertension, and diabetes.
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DOI：
10.1111/j.1559-4572.2008.00008.x
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发表时间：
2008-01-01
期刊：
影响因子：
--
通讯作者：
Holm, Goran
中科院分区：
文献类型：
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作者：
Rosmond, Roland;Holm, Goran
糖皮质激素受体（Glucocorticoid receptor，GR）是一种细胞质受体，与染色质上的特定位点结合，调节皮质醇的表达。糖皮质激素受体基因（GRL）位于染色体5 q31上，编码777个氨基酸（GR α）或742个氨基酸（GR β）多肽。本研究的目的是研究3个多态性的前瞻性关联-Tth 111 I限制性片段在启动子区，Bcl I多态性在内含子2，和A/G多态性在外显子2-的GRL基因的肥胖，高血压和糖尿病的估计在163无关的瑞典男性出生于1944年。这些数据显示，在罕见的BclI等位基因纯合子中，5年随访期间体重、体重指数、腹部肥胖、空腹血糖、胰岛素和稳态模型评估显著增加。与此相反，Tth 111 I或A/G多态性没有显着的关联被检测到。结论：GRL的遗传信息将有助于肥胖、糖尿病及相关代谢疾病的遗传学研究。
Glucocorticoid receptors (GRs) are cytoplasmaticreceptors regulating the expression of cortisol and bind to specific sites on chromatin. The glucocorticoid receptor gene (GRL) is located on chromosome 5q31 and encodes for either a 777-amino acid (GRalpha) or a 742-amino acid (GRbeta) polypeptide. The objective of the current study was to examine the prospective association of 3 polymorphisms-a Tth111I restriction fragment in the promoter region, a BclI polymorphism in intron 2, and an A/G polymorphism in exon 2-of the GRL gene on estimates of obesity, hypertension, and diabetes in 163 unrelated Swedish men born in 1944. These data showed a significant increase in body weight, body mass index, abdominal obesity, fasting glucose, insulin, and homeostasis model assessment over the 5-year follow-up among homozygotes for the rare BclI allele. In contrast, no significant associations with the Tth111I or A/G polymorphism were detected. It is concluded that the genetic information about GRL would be useful for further genetic study of obesity, diabetes, and related metabolic diseases.