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中国南方客家人大型群体中SLCO1B1和APOE基因多态性分析

Analysis of SLCO1B1 and APOE genetic polymorphisms in a large ethnic Hakka population in southern China.

作者信息

Zhong Zhixiong, Wu Heming, Li Bin, Li Cunren, Liu Zhidong, Yang Min, Zhang Qifeng, Zhong Wei, Zhao Pingsen

机构信息

Center for Cardiovascular Diseases, Meizhou People's Hospital (Huangtang Hospital), Meizhou Hospital Affiliated to Sun Yat-sen University, Meizhou, China.

Clinical Core Laboratory, Meizhou People's Hospital (Huangtang Hospital), Meizhou Hospital Affiliated to Sun Yat-sen University, Meizhou, China.

出版信息

J Clin Lab Anal. 2018 Jul;32(6):e22408. doi: 10.1002/jcla.22408. Epub 2018 Feb 9.

Abstract

OBJECTIVE

Statins are the most widely used lipid-lowering drugs, which have a significant effect on the inhibition of cardiovascular disease. The efficacy and side effects of statins are associated with the polymorphisms of SLCO1B1 and APOE genes. The purpose of this study was to analyze the SLCO1B1 and APOE gene polymorphisms in the Hakka population of southern China.

METHODS

A total of 3249 subjects including 2019 males and 1230 females participated in this study. Polymerase chain reaction (PCR)-fluorescence probe technique for polymorphisms analysis and analyzed the genotypes frequencies of SLCO1B1 and APOE genes.

RESULTS

The frequencies of SLCO1B1 521T>C between men and women were statistically significant (SLCO1B1 521TT, χ = 8.431, P = .004; SLCO1B1 521TC, χ = 7.436, P = .007). The frequencies of haplotypes *1b/*1b (40.07%) and *1a/*1b (32.56%) of SLCO1B1 gene accounted for 72.63%, followed by *1b/*15(14.40%), *1a/*1a (5.82%), *1a/*15 (5.57%), *15/*15 (1.45%), and *1a/*5 (0.12%). The frequencies of haplotypes *1a/*15 and *1b/*1b of SLCO1B1 gene between men and women were statistically significant (*1a/*15, χ = 6.789, P = .009; *1b/*1b, χ = 3.998, P = .004). In this study, genotype ɛ3/ɛ3 accounted for 69.04%, followed by ɛ3/ɛ4 (16.19%), ɛ2/ɛ3 (11.60%), ɛ2/ɛ4 (1.35%), ɛ4/ɛ4 (1.08%), and ɛ2/ɛ2 (0.74%) in all subjects, in which ɛ3 had the greatest allele frequency (82.93%), followed by ɛ4 (9.85%) and ɛ2 (7.22%). We found that 47 subjects carrying the SLCO1B1 521 (CC) polymorphism who had not any myopathy caused by statins.

CONCLUSIONS

We analyzed the SLCO1B1 and APOE gene polymorphisms in the Hakka population of southern China. This study provides a reference for the individualized meditation for Hakka population in this area.

摘要

目的

他汀类药物是应用最广泛的降脂药物,对抑制心血管疾病有显著作用。他汀类药物的疗效和副作用与SLCO1B1和APOE基因的多态性有关。本研究旨在分析中国南方客家人中SLCO1B1和APOE基因多态性。

方法

共有3249名受试者参与本研究,其中男性2019名,女性1230名。采用聚合酶链反应(PCR)-荧光探针技术进行多态性分析,分析SLCO1B1和APOE基因的基因型频率。

结果

SLCO1B1 521T>C在男性和女性中的频率有统计学意义(SLCO1B1 521TT,χ = 8.431,P = .004;SLCO1B1 521TC,χ = 7.436,P = .007)。SLCO1B1基因单倍型*1b/1b(40.07%)和1a/1b(32.56%)占72.63%,其次是1b/*15(14.40%)、*1a/*1a(5.82%)、*1a/*15(5.57%)、*15/15(1.45%)和1a/5(0.12%)。SLCO1B1基因单倍型1a/15和1b/*1b在男性和女性中的频率有统计学意义(*1a/*15,χ = 6.789,P = .009;*1b/*1b,χ = 3.998,P = .004)。在本研究中,所有受试者中基因型ɛ3/ɛ3占69.04%,其次是ɛ3/ɛ4(16.19%)、ɛ2/ɛ3(11.60%)、ɛ2/ɛ4(1.35%)、ɛ4/ɛ4(1.08%)和ɛ2/ɛ2(0.74%),其中ɛ3的等位基因频率最高(82.93%),其次是ɛ4(9.85%)和ɛ2(7.22%)。我们发现47名携带SLCO1B1 521(CC)多态性的受试者未出现他汀类药物引起的任何肌病。

结论

我们分析了中国南方客家人中SLCO1B1和APOE基因多态性。本研究为该地区客家人的个体化治疗提供了参考。

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