天津医药

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瘦素受体基因多态性与原发性高血压及血脂的关系

蔡泽园   

  1. 天津市胸科医院心血管病研究所
  • 收稿日期:2010-06-08 修回日期:2010-09-08 出版日期:2011-03-15 发布日期:2011-03-15
  • 通讯作者: 蔡泽园

Association of leptin receptor gene polymorphisms with essential hypertension and plasma lipid levels

CAI ze Yuan   

  • Received:2010-06-08 Revised:2010-09-08 Published:2011-03-15 Online:2011-03-15
  • Contact: CAI ze Yuan

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摘要： 【摘要】 目的 探讨瘦素受体 （LEPR）基因多态性与血浆瘦素水平、血脂水平及原发性高血压（EH）的关系。方法 对170原发性高血压患者与77例正常对照者进行研究，采用ELISA法测定血浆LEPR的水平；采用聚和酶链反应-限制性内切酶片断长度多态性（PCR-RFLP）分析LEPR基因中第四外显子A109G、和第6外显子A223G基因型和等位基因频率的分布。自动生化分析仪检测血浆多项血脂水平。结果 EH组与对照组比较，LEPR A109G基因型与等位基因频率分布差异有统计学意义（χ2=5.258，p=0.022）；LEPR A223G基因型与等位基因频率分布差异有统计学意义（χ2=5.454，p=0.020）。当LEPR 109位A等位基因携带者与G等位基因携带者相比，血浆总胆固醇、甘油三酯水平明显升高（p<0.05）。当LEPR A223G的基因变异不影响血浆血脂水平的改变。A等位基因携带者血浆瘦素水平明显低于G等位基因携带者（p<0.05）。结论 LEPR基因第4外显子109位及第6外显子223位的基因变异与原发性高血压的发生存在一定关系。LEPR基因第6外显子223位核苷酸基因变异，与原发性高血压的发生存在一定关系。LEPR基因109位A等位基因的变异与血脂水平升高有关，LEPR基因223位A等位基因变异与血浆瘦素受体水平降低有关。

关键词: PCR—RFLP, 基因多态性, EH, LEPR

Abstract: 【Abstract】 Objective To investigate the relationship between gene polymorphisms of leptin receptor and the serum level of lipids、LEPR、hypertension. Methods 170 subjects with EH and 77 controls without EH were involved in this study. serum LEPR level was measured by ELISA. The LEPR A109G and LEPR A223G genotypes were determined by polymerase chain reaction （PCR）and restriction fragment length polymorphism （RFLP）. Results A significant differences in genotypes and allele frequencies of A109G、A223G polymorphisms were detected between EH subjects and controls. The plasma levels of TC and TG in subjects with A allele of the A109G were higher than subjects with G allele（p<0.05）.The level of lipids was not affected by A223G polymorphism. LEPR level in the subjects with A allele was lower than the subjects with G allele. Conclusions LEPR gene mutation in 109 site and 223 site of exon 4 and 6 may be related with the EH. There was an obvious relationship within LEPR A109G mutation and high TC and TG level. The mutation A allele of 223 site shows lower levels of LEPR .

Key words: PCR—RFLP, polymorphism, EH, LEPR