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性别相关的单核苷酸多态性与韩国人群血脂异常的关系。

Sex-related differences in single nucleotide polymorphisms associated with dyslipidemia in a Korean population.

机构信息

Department of Nursing, Chung-Ang University, 84 Heukseok-ro, Dongjak-gu, Seoul, 06974, Republic of Korea.

Graduate School, Chung-Ang University, Seoul, 06974, Republic of Korea.

出版信息

Lipids Health Dis. 2022 Nov 23;21(1):124. doi: 10.1186/s12944-022-01736-5.

DOI:10.1186/s12944-022-01736-5
PMID:36419087
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9685854/
Abstract

BACKGROUND

The prevalence of dyslipidemia has increased steadily in Korea, and the incidence of dyslipidemia differs by sex. In this study, we identified single nucleotide polymorphisms (SNPs) related to dyslipidemia in Korean cohorts through genome-wide association study (GWAS) analysis.

METHODS

Genotyping was conducted to determine the genotypes of 72,298 participants and investigate genotypes for 7,079,946 SNPs. Sex, age, and BMI were set as covariates for GWAS, and significant SNPs were identified in the discovery and replication stages using logistic regression.

RESULTS

GWAS of the entire cohort revealed a total of five significant SNPs: rs117026536 (LPL), rs651821 (APOA5), rs9804646 (APOA5), rs9926440 (CETP), and rs429358 (APOE). GWAS of the male subjects revealed a total of four significant SNPs. While rs9804646 (APOA5) and rs429358 (APOE) were significant for all the subjects, rs662799 (APOA5) and rs56156922 (CETP) were significant only for the male subjects. GWAS of the female subjects revealed two significant SNPs, rs651821 (APOA5) and rs9804646 (APOA5), both of which were significant in all the subjects.

CONCLUSION

This is the first study to identify sex-related differences in genetic polymorphisms in Korean populations with dyslipidemia. Further studies considering environmental variables will be needed to elucidate these sex-related genetic differences in dyslipidemia.

摘要

背景

韩国的血脂异常患病率稳步上升，血脂异常的发病率因性别而异。在这项研究中，我们通过全基因组关联研究（GWAS）分析，确定了与韩国人群血脂异常相关的单核苷酸多态性（SNP）。

方法

进行基因分型以确定 72298 名参与者的基因型，并研究 7079946 个 SNP 的基因型。性别、年龄和 BMI 被设定为 GWAS 的协变量，并使用逻辑回归在发现和复制阶段确定显著 SNP。

结果

整个队列的 GWAS 总共发现了五个显著 SNP：rs117026536（LPL）、rs651821（APOA5）、rs9804646（APOA5）、rs9926440（CETP）和 rs429358（APOE）。男性受试者的 GWAS 总共发现了四个显著 SNP。虽然 rs9804646（APOA5）和 rs429358（APOE）对所有受试者均有显著意义，但 rs662799（APOA5）和 rs56156922（CETP）仅对男性受试者有显著意义。女性受试者的 GWAS 总共发现了两个显著 SNP，rs651821（APOA5）和 rs9804646（APOA5），两者在所有受试者中均有显著意义。

结论

这是第一项在血脂异常的韩国人群中确定与性别相关的遗传多态性差异的研究。需要进一步考虑环境变量的研究来阐明血脂异常中这些与性别相关的遗传差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdf/9685854/639745c25610/12944_2022_1736_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdf/9685854/9a285ffe04e9/12944_2022_1736_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdf/9685854/639745c25610/12944_2022_1736_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdf/9685854/9a285ffe04e9/12944_2022_1736_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2bdf/9685854/639745c25610/12944_2022_1736_Fig2_HTML.jpg

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