黑素皮质素受体-4基因rs17782313位点多态性与长沙地区汉族人群原发性高血压病的相关性研究

Relationship of Polymorphism of rs17782313 Near MC4R Gene to Essential Hypertension in Han Population in Changsha

目的探讨长沙地区汉族人群黑素皮质素受体-4基因(MC4R)rs17782313位点多态性与原发性高血压病的相关性。方法以长沙地区汉族人群为研究对象,选取2011年6月—2012年7月在中南大学湘雅三医院住院的原发性高血压病患者及体检健康者共768例,分为高血压组(440例)和对照组(328例)。收集一般临床资料〔性别、年龄、体质量、体质指数(BMI)、收缩压(SBP)、舒张压(DBP)、总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)、高密度脂蛋白胆固醇(HDL-C)、三酰甘油(TG)、尿酸(UA)、空腹血糖(FBG)〕,应用聚合酶链反应(PCR)及飞行时间质谱技术(MALDI-TOF-MS)对MC4R rs17782313位点进行基因分型检测。比较两组的基因分型和等位基因频率;对高血压相关影响因素进行多因素Logistic回归分析。结果高血压组和对照组的年龄、体质量、BMI、SBP、DBP、TC、LDL-C、TG、UA、FBG比较,差异有统计学意义(P<0.05);两组的性别构成、HDL-C比较,差异无统计学意义(P>0.05)。高血压组和对照组间的MC4R rs17782313位点基因型分布和等位基因频率比较,差异有统计学意义(P<0.05)。TC与rs17782313位点存在线性回归关系(r=0.08,β=0.101,P<0.05)。多因素Logistic回归分析显示超重和肥胖、高三酰甘油血症、C等位基因是原发性高血压病的独立危险因素〔OR(95%CI)=1.491(1.078,2.062)、1.607(1.038,2.486)、1.444(1.040,2.006),P<0.05〕。结论 MC4R rs17782313位点多态性与长沙地区汉族人群高血压发病相关,为原发性高血压病的预防和治疗提供了遗传学线索。

Objective To explore the association between polymorphism of rs17782313 near MC4R gene and essential hypertension （EH） in Changsha Han population. Methods A total of 768 EH inpatients and healthy subjects from June 2011 to July 2012 were divided into groups EH （n = 440）, control （n = 328）. Their general clinical data including gender, age, weight, BMI, SBP, DBP, total cholesterol （TC）, low - density lipoprotein cholesterol （LDL - C）, high density lipoprotein cholesterol （HDL - C）, triglycerides （TG）, uric acid （VA）, fasting blood glucose （FBG） were collected. Genetic typing was carried out on MC4R rs17782313 using polymerase chain reaction （peR） and matrix - assisted laser desorption ionization time - of - flight mass spectrometry （MALDI - TOF - MS）. Results There was significant difference in age, weight, BMI, SBP, DBP, TC, LDL - C, TG, VA, FBG between 2 groups （P 〈 0. 05 ）, there was no difference in gender composition, HDL-C （P〉0.05）. There was difference in MC4R rs17782313 genetic typing distribution and allele frequency between 2 groups （P 〈 0. 05）. There was linear regression relationship between TC and MC4R rsl7782313 （r = 0. 08, β = 0. 101, P 〈 0. 05 ）. Logistic regression analysis showed that overweight, obesity, hypertriglyceridemia, C allele were independent risk factors of EH [OR （95% CI） = 1. 491 （1. 078, 2.062）, 1. 607 （1. 038, 2.486）, 1. 444 （1. 040, 2.006）, P 〈 0. 05 ] . Conclusion rs17782313 polymorphism is closely associated with EH in Han population in Changsha, which provides a genetic clue for EH prevention and treatment.