刘爱萍,詹思延,李立明,胡永华,曹卫华,吴涛,李俊,郭小霞.上海市社区人群低密度脂蛋白受体AvaⅡ多态性与血脂水平的关系[J].Chinese journal of Epidemiology,2003,24(7):542-546 |
上海市社区人群低密度脂蛋白受体AvaⅡ多态性与血脂水平的关系 |
Association between AvaⅡexon 13 polymorphism at the LDL receptor gene and serum lipid levels in normotensives and essential hyperte-nsives in Shanghai |
Received:January 18, 2003 |
DOI: |
KeyWord: 低密度脂蛋白受体 基因 血脂水平 高血压 |
English Key Word: Low density lipoprotein receptor Gene Levels of plasma lipids Hypertension |
FundProject:黑龙江省自然科学基金(D200623) |
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Abstract: |
目的 观察低密度脂蛋白受体(LDL R)基因AvaⅡ多态性在上海市社区对照人群、高血压人群中的分布,进一步探讨其与血脂变量的关系.方法 运用聚合酶链反应-限制性片段长度多态性技术检测了428例个体,其中健康对照组109名,高血压组319例.结果 发现LDL-R基因型有3种,即(+/+)型、(+/-)型、(-/-)型.对照组3种基因型构成分别为0.9%、27.5 %、71.6 %;(+)等位基因频率为14.7%,(-)两组合计社区人群3种基因型构成分别为1.2%、32.2%、66.6 %;(+)等位基因频率为17.3%,(-)等位基因频率为82.7%.(+)等位基因频率均低于白种人群频率43%.社区人群与高血压组,男性胆固醇(TC)、低密度脂蛋白胆固(LDL-C)水平在LDL-R基因型间差异均有显著性,(+/-)基因型显著高于(-/-)基因型(P <;0.05).女性及对照组中虽有相同趋势,但未达统计学显著水平.结论 LDL-R基因AvaⅡ多态性(+)等位基因和高TC、高LDL-C水平有关,(-)等位基因和低TC、低LDL-C水平有关.社区人群中与较低TC和LDL-C水平有关的(-)等位基因频率高于西方国家. |
English Abstract: |
Objective To investigate the AvaⅡ polymorphism of low density lipoprotein receptorgene in both health and essential hyperten-sion populations,and to evaluate the association of AvaⅡpolymorphismwith level of blood lipid.Methods Using polymerase chain reaction(PCR),AvaⅡ polymorphism was studied in 109 health individuals and 319 patients with essential hypertension.ResultsThere were three kinds of genotype:(+/+),(+/-),(-/-).The freq-uencies of the three genotypes were shown as follows (+/+)0.9%,(+/-) 27.5% (-/- )71.6% in health population and(+/+)1.2%,(+/-)33.9%,(-/-)64.9%in essential hypertension population respectively.The frequencies of the two alleles were shown as follows:(+)14.7%,(一)85.3%in health population (+)18.2%,(-)81.8 % in essential hypert-ension population and(+)17.3%,(-)82.7% in the community respectively. In male essential hypertension cases the genotypes were asso-ciated with serum TC and LDL-C level in the following order:(-/-)<(+/-)(P<0.05).In women and healthy population there was a similar trend but not statistically significant(Y>0.05).Conclusions A significant association was found between the common va-riation of LDL-R gene and serum TC and LDL-C levels.(+)Allele was associated with elevated level of serum TC and LDL-C,but(-)allele was associated with a low level of serum TC and LDL-C. The frequencies of(一)allele in both group were related to serum low level TC while LDL-C was much higher than that reported in the western countries.These data indicated that genetic factors which resistant to hyper-cholesterolemia in Chinese people were different from those findings in West while might be one of the reasons to explain why that ser-um TC level in Chinese was lower than people in the western countries. |
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