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PTPN11 基因的多态性可能以性别特异性的方式影响血清脂质水平。

Polymorphisms of PTPN11 gene could influence serum lipid levels in a sex-specific pattern.

机构信息

Division of Clinical Epidemiology, First Hospital of Jilin University, Changchun 130021, China.

出版信息

Lipids Health Dis. 2013 May 14;12:72. doi: 10.1186/1476-511X-12-72.

DOI:10.1186/1476-511X-12-72
PMID:23672255
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3685535/
Abstract

BACKGROUND

Previous studies have reported that different genotypes of PTPN11 gene (protein tyrosine phosphatase, non-receptor 11) were associated with different levels of serum lipids. The aim of this study was to explore the relationship between single nucleotide polymorphisms (SNPs) of PTPN11 and serum lipids in Northeast Chinese.

METHODS

A total of 1003 subjects, 584 males and 419 females, were included in the study and their serum lipids were determined. Five htSNPs (rs2301756, rs12423190, rs12229892, rs7958372 and rs4767860) of PTPN11 gene were genotyped using TaqMan assay method.

RESULTS

All of the five SNPs were in Hardy-Weinberg equilibrium. The male subjects had higher triglyceride (TG), higher low-density lipoprotein cholesterol (LDL-C) and lower high-density lipoprotein cholesterol (HDL-C) level than females. In males, rs4767860 was found to be associated with serum TG and total cholesterol (TC) levels and rs12229892 was associated with TC level. However, these significant associations could not be observed in females. In females, rs2301756 was found to be associated with TG and rs7958372 was associated with LDL-C level. Haplotype analysis showed that the GCGTG haplotype was associated with slightly higher TG level and ATGCG with higher TC level.

CONCLUSIONS

SNPs of PTPN11 may play a role in serum lipids in a sex-specific pattern. However, more studies are needed to confirm the conclusion and explore the underlying mechanism.

摘要

背景

先前的研究报告称，PTPN11 基因（蛋白酪氨酸磷酸酶，非受体 11）的不同基因型与血清脂质水平的不同有关。本研究旨在探讨中国东北人群 PTPN11 单核苷酸多态性（SNPs）与血清脂质的关系。

方法

共纳入 1003 名受试者，其中男性 584 名，女性 419 名，检测其血清脂质。采用 TaqMan 检测方法对 PTPN11 基因的 5 个 htSNPs（rs2301756、rs12423190、rs12229892、rs7958372 和 rs4767860）进行基因分型。

结果

所有 5 个 SNP 均处于 Hardy-Weinberg 平衡状态。男性的甘油三酯（TG）、低密度脂蛋白胆固醇（LDL-C）水平高于女性，高密度脂蛋白胆固醇（HDL-C）水平低于女性。在男性中，rs4767860 与血清 TG 和总胆固醇（TC）水平有关，rs12229892 与 TC 水平有关，但这些显著关联在女性中无法观察到。在女性中，rs2301756 与 TG 水平有关，rs7958372 与 LDL-C 水平有关。单体型分析显示，GCGTG 单体型与 TG 水平略有升高有关，ATGCG 单体型与 TC 水平升高有关。

结论

PTPN11 的 SNPs 可能以性别特异性模式在血清脂质中发挥作用。然而，需要更多的研究来证实这一结论，并探讨其潜在机制。