GHSR基因多态性与高胆固醇血症的关联研究

摘要

Objectives To investigate the relationship between single nucleotide polymorphism (SNP) rs2922126 of GHSR gene and hypercholesterolemiat lipid profile in a Chinese population. Methods Hypercholesterolemia (HTC) was defined as serum total cholesterol equal to or more than 200mg/dL. Genotyping for rs2922126 was completed by using PCRt RFLP, and sequencing in 537 HTC (255 males, 282 females) and 621 normal total cholesterol(NTC)(286 males, 335 females). Serum total cholesterol (TO, HDL-cholesterol (HDL-C), LDL-cholesterol (LDL-C), triglyceride (TG), glucose (Glu) level were measured. Results The significant difference of distribution of rs2922126 was observed between HTC and NTC. Rs2922126 was associated with HTC (P=0.006, Oraa = 1.57, 95%CI=1.13 - 2.17). The association between rs2922126 and serum TG, LDL-C level were also observed (OR= 1.58 (95%CI=1.13-2. 20), P=0.011) and OR=l. 54(95%CI=1.10-2.17), P = 0.014, respectively). Conclusion The distribution of rs2922126 of GHSR gene is associated with hypercholesterolemia, lipid profile.%目的 研究生长激素促泌素受体(GHSR)基因的单核苷酸多态性(single-nucleotide polymorphism,SNP)位点rs2922126在中国汉族人群中与高胆固醇血症、血脂水平的相关性.方法 本研究中高胆固醇血症(HTC)组537例(其中男性255例,女性282例),胆固醇正常组(NTC)621例(其中男性286例,女性335例).采用多聚酶链式反应(PCR),单碱基延伸法(SNaPSHOT)进行基因分型,并分别测定所有研究对象的血清高密度脂蛋白(HDL-C),低密度脂蛋白(LDL-C),总胆固醇(TC),甘油三脂(TG)和葡萄糖(GLU)水平.结果 GHSR基因rs2922126位点与高胆固醇血症显著相关(P=0.006,ORAA=1.57,95％CI=1.13-2.17).rs2922126位点与血压、血糖以及高密度脂蛋白(HDL-C)水平不相关,与甘油三酯(TG)和低密度脂蛋白(LDL-C)水平显著相关.校正年龄、吸烟、饮酒等危险因素后OR值分别为1.58(95％CI=1.13-2.20,P=0.011),1.54(95％CI=1.10-2.17,P=0.014).结论 GHSR基因rs2922126位点与高胆固醇血症及血脂水平相关.