摘要
目的分析胆固醇酰基转移酶-1(ACAT-1)rs1044925基因多态性与血脂水平的关系,从而探索人群发生高脂血症的遗传学机制。方法选择参加体检并接受血脂检查、DNA检测的某市交通警察作为研究对象。对收集的血样进行全血基因组DNA的提取,获得ACAT-1 rs1044925 SNP的AA/CC/AC基因型结果;血脂水平根据胆固醇、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)的正常范围进行分类;针对基因型结果和血脂水平进行相关分析。结果筛选出符合条件的研究对象共有2119人,平均年龄(41.33±7.50)岁,男性为主(占89.05%),多为广东籍(占86.55%)。该人群血脂异常检出率为52.24%,男性的血脂水平明显高于女性(P<0.05);年龄越大,血脂水平越高(P<0.05);广东籍人员的胆固醇均值高于非广东籍人员(P<0.05),而TG均值反之。高脂血症患病率为35.11%,临床类型上以混合型高脂血症、高甘油三酯血症为主,好发年龄段为40岁以上(P<0.05),男性患病率高于女性(P<0.05),广东籍高于非广东籍(P<0.05)。在ACAT-1 rs1044925 SNP基因型结果中,AA型占76.83%,AC型占21.09%,CC型占2.08%,C等位基因频率为0.126,女性高于男性,广东籍高于非广东籍,基因型的分布与性别、户籍所在地无关(P>0.05)。AA、AC型血脂水平高于CC型,未携带A基因组的HDL-C均值高于携带A基因组(P<0.05)。AC型高脂血症患病率最高,不同基因型组之间高脂血症的患病率差异无统计学意义(P>0.05),高脂血症组与非高脂血症组之间的基因型分布差异无统计学意义(P>0.05);三种基因型均以混合型高脂血症、高甘油三酯血症类型多见,以AA、AC型两组为主(P<0.05),不同临床类型在基因型分组之间差异无统计学意义(P>0.05)。结论rs1044925 SNP C等位基因与HDL-C水平相关。应进一步探索ACAT-1基因多态性以及与血脂代谢相关疾病的遗传学机制,为高脂血症人群的诊治提供科学依据。
Objective To analyze the relationship between ACAT-1 rs1044925 SNP and serum lipid levels,and explore the genetic mechanism of hyperlipidemia in the study population.Methods City traffic police officers who participated in a physical examination and received blood lipid test and DNA test were selected as the research objects.Whole blood genomic DNA was extracted from the collected blood samples for the analysis of AA/CC/AC genotypes of ACAT-1 rs1044925 SNP.Blood lipid levels were classified according to the normal range of cholesterol,triglycerides,and high-density lipoprotein cholesterol(HDL-C);correlation analysis was performed for genotypic results and lipid levels.Results A total of 2119 eligible subjects were screened,with an average age of(41.33±7.50)years old,mainly male(89.05%),and mostly Cantonese(86.55%).The detection rate of abnormal serum lipid level in this population was 52.24%.Male serum lipid levels were significantly higher than those of female(P<0.05).The older the age,the higher was the serum lipid level(P<0.05).The average cholesterol of Guangdong residents was higher than that of non-Guangdong people(P<0.05),while the mean value of triglycerides was reversed.The prevalence of hyperlipidemia was 35.11%.The clinical type was mainly mixed hyperlipidemia and hypertriglyceridemia;the prevalence age group was 40 years old or older(P<0.05),and the male prevalence rate was higher than that of women(P<0.05);Guangdong people was more than non-Guangdong people(P<0.05).Among the ACAT-1 rs1044925 SNP genotypes,AA type accounted for 76.83%,AC type accounted for 21.09%,CC type 2.08%;C allele frequency was 0.126 and the allele frequency of female was higher than that of male,and the allele frequency of Guangdong people was higher than that of non-Guangdong people.The distribution of genotypes was not linked to gender and household registration(P>0.05).The serum lipids levels of AA and AC genotypes were higher than those of CC.The mean value of high-density lipoprotein cholesterol of the no A genotype was higher than that of the A-carrier genotype(P<0.05).The prevalence of AC-type hyperlipidemia was the highest,and the prevalence of hyperlipidemia between different genotype groups was not statistically significant(P>0.05).There was no statistical difference in genotype distribution between hyperlipidemia group and non-hyperlipidemia group(P>0.05).Mixed hyperlipidemia and hypertriglyceridemia were more common in the three genotypes,and more common in AA and AC genotypes(P<0.05).There were no significant differences between different clinical types and different genotypes.Conclusion The C/-allele of rs1044925 SNP was associated with high-density lipoprotein cholesterol levels.The genetic mechanism of ACAT-1 gene polymorphism and diseases related to lipid metabolism should be further explored to provide scientific research basis for the diagnosis and treatment of hyperlipidemia.
作者
林毓嫱
陈育全
邹文英
白卢皙
段传伟
杨烈
刘移民
LIN Yu qiang;CHEN Yu quan;ZOU Wen ying;BAI Lu xi;DUAN Chuan wei;YANG Lie;LIU Yi min(Guangzhou Prevention and Treatment Hospital of Occupational Diseases,Guangzhou,Guangdong 510620;School of Public Health,Sun Yat sen University,Guangzhou,Guangdong 510080,China)
出处
《热带医学杂志》
CAS
2019年第6期699-703,共5页
Journal of Tropical Medicine
基金
广州市医药卫生科技项目(20171A010287)
广州市民生科技重大项目(2014Y2-00067)
广州市职业环境与健康效应实验室建设项目(2014SY000020)
广州市产学研协同创新重大专项项目(201704020177)
广州市医学重点学科建设项目(穗卫科教【2016】27号)
广州市“121人才梯队工程”后备人才项目.
作者简介
林毓嫱(1984-),女,硕士,主治医师,主要从事预防保健和职业健康监护工作;通讯作者:刘移民,E mail:ymliu61@163.com
