摘要
目的探讨糖皮质激素受体（glucocorticoidreceptor，GR）和促肾上腺皮质激素受体（adrenocorticotropichormonereceptor，ACTHR）基因的多态性与血脂、血糖、皮质醇以及促肾上腺皮质激素（adrenocorticotropichormone，AcTH）水平的相关性。方法随机抽取200名健康汉族人测定血糖、血脂、皮质醇以及ACTH水平，用聚合酶链反应一限制性片段长度多态性方法测定ACTHR-2T／C、GR6294C／G、GR4534—4536GAG／AAA[GAGAGG（GluArg）→GAAAAG（GluLys）]、GR5556A／G等单核苷酸多态性。结果GR、ACTHR基因不同基因型的血脂、血糖差异无统计学意义。GR5556A／G位点AG基因型皮质醇水平高于AA基因型。GR4534—4536GAG／AAAAG基因型皮质醇水平高于GG基因型。GR6294C／G位点CC和CG基因型皮质醇水平低于GG基因型。而ACTH水平只有ACTHR-2T／CTT基因型低于CC和CT基因型，GR5556A／G位点AG基因型低于AA基因型。结论ACTHR-2T／C、GR5556A／G、GR4534—4536GAG／AAA、GR6294C／G的变异对血脂、血糖水平无影响。GR5556A／G、GR4534—4536GAG／AAA、GR6294C／G3个位点的变异可影响血清皮质醇基础水平，ACTHR-2T／C、GR5556A／G基因位点的变异可影响血清ACTH的基础水平。
Objective To explore the association between plasma fat and glucose, cortisol and adrenocorticotropic hormone（ACTH） levels and genotypes of GR and ACTHR genes in healthy Chinese Han subjects. Methods Two hundred healthy subjects were analyzed for GR and ACTHR gene polymorphisms using PCR-restriction fragment length polymorphism method. Plasma lipid, glucose, cortisol, ACTH levels were determined and correlated with the genotypes. Results No significant difference was found between plasma lipid and glucose levels and various GR and ACTHR genotypes. Subjects with AO genotype of GR 5556A/G polymorphism had lower plasma cortisol levels than AA genotype. Compared with subjects with GG genotype of GR 4534-4536GAG/AAA[GAGAGG（GluArg）→ GAAAAO（OluLys）] polymorphism, those with AG genotype had significantly lower plasma eortisol levels. Subjects with CC and CG genotypes of GR 6294C/G polymorphism also had significantly lower plasma cortisol levels compared with those with GG genotype. With regard to plasma ACTH levels, those with TT genotype of ACTHR - 2T/C polymorphism were significantly lower than CC and CT genotypes, and those with AG genotype for GR 5556 polymorphism were also significantly lower than AA genotype. Conclusion There was no difference in plasma cortisol and glucose levels between subjects with GR and ACTHR gene variants. GR gene variants （5556A/G, 4534-4536GAG/AAA and 6294C/O polymorphisms） may influence plasma cortisol level, and ACTHR-2T/C, GR 5556A/G polymorphisms may decrease plasma ACTH level.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2012年第2期188-193,共6页
Chinese Journal of Medical Genetics
基金
基金项目：国家自然科学基金（30800906）
新疆维吾尔自治区自然科学基金（2010211A32）
关键词
基因多态性
血脂
血糖
皮质醇
促肾上腺皮质激素
Gene polymorphism
Plasma lipid
Plasma sugar
Cortisol
Adrenocorticotropic hormone
