Impact of PCSK9 mutations on incidences of hypercholesterolemia: A meta-analysis to infer correlation

IF 0.8 Q4 GENETICS & HEREDITY Meta Gene Pub Date : 2022-02-01 DOI:10.1016/j.mgene.2022.101019

Monisha Singhal , Raadhika Agrawal , Nidhi Gupta

{"title":"Impact of PCSK9 mutations on incidences of hypercholesterolemia: A meta-analysis to infer correlation","authors":"Monisha Singhal , Raadhika Agrawal , Nidhi Gupta","doi":"10.1016/j.mgene.2022.101019","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p><span><span>Proprotein convertase subtilisin/kexin type 9, a member of the </span>serine protease<span> family, plays an important role in the regulation of plasma low density lipoprotein cholesterol by stimulating the degradation of </span></span>LDL receptor.</p></div><div><h3>Method</h3><p>In this meta-analysis, we explored the correlation of PCSK9 polymorphisms E670G and D374Y with the elevated plasma lipid levels<span>, which leads to a condition known as hypercholesterolemia, by calculating the standardized mean difference and Odds Ratio with 95% confidence interval. The statistical analysis was done using SPSS version.</span></p></div><div><h3>Results</h3><p>Under dominant genetic model, pooled results had shown that PCSK9 E670G polymorphism was associated with higher LDL-C levels among the Asians (SMD = 0.53; I<sup>2</sup> = 40%; OR = 0.7610; 95% CI = 0.6554 to 0.8837 and <em>p</em> value = 0.003).</p></div><div><h3>Conclusion</h3><p>The close relationship between both polymorphisms of PCSK9 gene i.e. E670G and D374Y, with the elevated plasma LDL-C levels has been observed. E670G polymorphism is highly prevalent among the Asian population.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 101019"},"PeriodicalIF":0.8000,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Meta Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S221454002200010X","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 1

Abstract

Background

Proprotein convertase subtilisin/kexin type 9, a member of the serine protease family, plays an important role in the regulation of plasma low density lipoprotein cholesterol by stimulating the degradation of LDL receptor.

Method

In this meta-analysis, we explored the correlation of PCSK9 polymorphisms E670G and D374Y with the elevated plasma lipid levels, which leads to a condition known as hypercholesterolemia, by calculating the standardized mean difference and Odds Ratio with 95% confidence interval. The statistical analysis was done using SPSS version.

Results

Under dominant genetic model, pooled results had shown that PCSK9 E670G polymorphism was associated with higher LDL-C levels among the Asians (SMD = 0.53; I² = 40%; OR = 0.7610; 95% CI = 0.6554 to 0.8837 and p value = 0.003).

Conclusion

The close relationship between both polymorphisms of PCSK9 gene i.e. E670G and D374Y, with the elevated plasma LDL-C levels has been observed. E670G polymorphism is highly prevalent among the Asian population.

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

PCSK9突变对高胆固醇血症发病率的影响:一项推断相关性的荟萃分析

蛋白转化酶subtilisin/kexin 9是丝氨酸蛋白酶家族的成员，通过刺激LDL受体的降解，在血浆低密度脂蛋白胆固醇的调节中发挥重要作用。方法在本荟萃分析中，我们通过计算标准化平均差和95%置信区间的优势比，探讨PCSK9多态性E670G和D374Y与血脂水平升高的相关性，从而导致高胆固醇血症。采用SPSS统计软件进行统计分析。结果在显性遗传模型下，汇总结果显示PCSK9 E670G多态性与亚洲人较高的LDL-C水平相关(SMD = 0.53;i2 = 40%;or = 0.7610;95% CI = 0.6554 ~ 0.8837, p值= 0.003)。结论PCSK9基因E670G和D374Y多态性与血浆LDL-C水平升高有密切关系。E670G多态性在亚洲人群中非常普遍。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文去求助

来源期刊

Meta Gene Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.10

自引率

0.00%

发文量

期刊介绍： Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.