瘦素基因-2548A/G和瘦素受体基因Gln223Arg位点多态性与哮喘和代谢综合征的关系

Associations of -2548A /G polymorphism in leptin gene and Gln223Arg polymorphism in leptin receptor gene with asthma and metabolic syndrome

目的:研究瘦素基因-2548A/G和瘦素受体基因Gln223Arg位点多态性与哮喘和代谢综合征的关系。方法:选取82例哮喘合并代谢综合征病人(A+M)、114例哮喘病人(AS)、100例代谢综合征病人(MS)以及96例健康对照者(NC)。根据肺功能将AS组分为轻度AS和中重度AS,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)法分析所有受试者瘦素基因-2548A/G和瘦素受体基因Gln223Arg位点单核苷酸多态性及基因型,并比较不同组之间这两个基因位点和多态性之间的差异。结果:1不同组间生化指标有差异(P均<0.05);2瘦素基因-2548A/G位点多态性:MS、A+M和中重度AS组与NC相比AA基因型及A等位基因频率显著升高(P均<0.05);3瘦素受体基因Gln223Arg位点多态性:MS与NC和AS相比AG+AA基因型及A等位基因频率显著升高(P均<0.05),A+M与AS相比A等位基因频率显著升高(P<0.05),AS组、轻度AS组和中重度AS组与NC组相比均没有差异(P均>0.05)。结论:瘦素基因-2548A/G多态性与哮喘和代谢综合征都有一定的相关性,其A等位基因可能是代谢综合征的致病基因,而且与哮喘严重程度相关;瘦素受体基因Gln223Arg A等位基因可能是代谢综合征的致病基因,却与哮喘无关。

Objective：To investigate the relationship between polymorphism of leptin gene -2548A/G and leptin receptor gene （LEPR） Gln223Arg and asthma and metabolic syndrome. Methods： 82 asthma-combined metabolic syndrome patients, 114 asthma patients, 100 metabolic syndrome patients and 96 normal controls were conducted. The polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP） analysis were performed to investigate the polymorphism of leptin gene -2548A/G and LEPR gene Gln223Arg site. In addition, asthma was graded into mild AS and mod-severe AS according to lung function. Then the associations between the polymorphism of leptin gene -2548A/G and LEPR gene G1n223Arg and different grades of asthma were performed. Results：①The biochemical indicators were different compared between each group. ②The genotype and allele frequencies in leptin gene polymorphism -2548A/G were significantly difference between metabolic syndrome patients （P = 0. 047 and 0. 046 ） , asthma-combined metabolic syndrome patients（P=0. 038 and 0. 044） ,rood-severe asthma patients（P=O. 019 and 0. 028） and control group. ③There was a significant difference of genotype and allele frequencies in LEPR gene Gln223Arg between metabolic syndrome patients and controls （P = 0. 037 and 0. 023 ） ; between metabolic syndrome patients and asthma patients （P = 0. 000 and 0. 000 ）. There was a significant difference of allele frequencies in LEPR gene Gln223Arg between asthma-combined metabolic syndrome patients and asthma（P=0. 032） . Conclusion： Polymorphisms of the leptin gene -2548A/G site may be associated with metabolic syndrome and mod-severe asthma. Polymorphisms of the LEPR gene Gln223Arg site may be only associated with metabolic syndrome. The two genes would be the candidate genes in early prevention and control.