黑龙江省东部地区汉族人群PCSK9基因第1外显子多态性与脂代谢的相关性

目的 研究黑龙江省东部地区汉族人群前蛋白转化酶枯草溶菌素(PCSK)9基因第1外显子多态性与脂代谢的相关性.方法 因心绞痛和(或)运动试验阳性及有冠脉管腔狭窄证据而需入院行冠状动脉造影者220例中,110例冠心病(CHD)者为病例组,110例非CHD者为对照组,检测PCSK9基因第1外显子基因多态性及血脂水平,并对基因多态性与血脂水平进行相关性分析.结果 共发现c.121C>G、c.299C>T、c.427-428insGCT、A53V、P56S和c.556A>G 6个突变位点,其中在A53V突变位点上发现CC和TC两种基因型,但未发现TT基因型.病例组和对照组各基因型间血清三酰甘油(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)水平差异具有统计学意义(P<0.05).病例组中TC基因型血清TG、TC和LDL-C水平均显著高于CC基因型(P<0.05);对照组中TC基因型血清TC水平显著高于CC基因型(P<0.05).结论 PCSK9基因第1外显子在黑龙江省东部地区汉族人群中存在多态性,且与CHD患者脂代谢有关.

Relationship of exon 1 polymorphism of the proprotein convertase subtilisin kexin type 9(PCSK9)gene and blood lipid levels in the Han population from the eastern part of Heilongjiang province

Objective To determine the relationship of exon 1 polymorphism of the proprotein convertase subtilisin kexin type(PCSK)9 gene and blood lipid levels in the Han population from the eastern part of Heilongjiang province.Methods 110 patients with coronary heart disease(CHD)were selected as CHD group,while 110 patients with non-CHD were selected as control group.The exon 1 polymorphism of the PCSK9 gene and blood lipid levels were measured to analyze their Correlation.Results C.121 C>G,c.299C>T,c.427-428 insGCT,A53V,P56S,and c.556A>G 6 were detected in the screening of exon 1 of the PCSK9 gene in the eastern part of Heilongjiang Han population.Homozygous CC and heterozygous TC genotypes were detected in the polymorphism of the PCV9 gene A53V locus,but homozygous TT genotype was not detected.There were significant differences in the levels of serum TG,TC,HDL-C and LDL-C in each genotypes between CHD and control groups(P<0.05).The levels of serum TG,TC and LDL-C of heterozygous TC genotype was higher than those of homozygous CC genotype in CHD patients(P<0.05).The level of serum TC of heterozygous TC genotype was higher than that of homozygou CC genotype in patients from control group(P<0.05).Conclusions There is polymorphism in the exon 1 of the PCSK9 gene in the eastern part of Heilongjiang Han population.The levels of serum TG,TC and LDL-C of heterozygous TC genotype were higher than those of homozygous CC genotype in CHD patients.The polymorphism in the exon 1 of the PCSK9 gene is associated with the blood lipid levels of CHD patients.