河北地区汉族心脑血管病患者ApoE和SLCO1B1基因多态性分析

doi:10.3969/j.issn.1672-6731.2021.05.012

摘要/Abstract

摘要：

目的分析河北地区汉族人群中心脑血管病患者ApoE和SLCO1B1基因多态性分布情况。方法以2018年6月至2019年10月于河北医科大学第一医院神经内科和心内科就诊的4193例心脑血管病患者为研究对象，利用聚合酶链反应（PCR）-荧光探针技术定性检测其外周全血基因组中ApoE和SLCO1B1基因多态性分布情况，分析基因多态性分布特点，比较不同性别之间基因型分布差异。结果 4193例河北地区汉族心脑血管病患者的ApoE以及SLCO1B1基因多态性位点突变频率观察值符合Hardy-Weinberg遗传平衡；男女之间ApoE基因单核苷酸多态性位点388T > C、526C > T，以及SLCO1B1基因单核苷酸多态性位点388A > G、521T > C分布差异无统计学意义（P > 0.05）。在ApoE基因的6种表型中，ε3/ε3所占比例最大，为68.57%（2875/4193）；其他表型ε3/ε4、ε2/ε3、ε2/ε4、ε4/ε4、ε2/ε2占比依次为15.48%（649/4193）、12.81%（537/4193）、1.69%（71/4193）、0.98%（41/4193）和0.48%（20/4193）；不同性别之间ApoE基因表型分布差异无统计学意义（P=0.223）。SLCO1B1基因的7种表型中，*1b/*1b、*1a/*1b的占比较大，分别为39.57%（1659/4193）和31.05%（1302/4193），其他表型*1b/*15、*1a/*1a、*1a/*15、*15/*15、*1a/*5占比依次为14.31%（600/4193）、7.20%（302/4193）、6.42%（269/4193）、1.43%（60/4193）和0.02%（1/4193）；不同性别之间SLCO1B1基因表型分布差异无统计学意义（P=0.078）。结论河北地区汉族人群中心脑血管病患者ApoE和SLCO1B1基因多态性分布不均匀，且ApoE和SLCO1B1基因多态性分布与性别无关。

关键词: 脑血管障碍, 心血管疾病, 载脂蛋白E4, 溶质运载体有机阴离子转运家族成员1b1, 基因, 汉族, 河北

Abstract:

Objective To analyze the distribution of ApoE and SLCO1B1 genetic polymorphisms of patients with cardiovascular and cerebrovascular diseases in Han nationality of Hebei region. Methods Patients with cardiovascular and cerebrovascular diseases admitted to our hospital corresponding department from June 2019 to October 2020 were selected. The polymorphisms of ApoE and SLCO1B1 genes in 4193 patients with cardiovascular and cerebrovascular diseases were detected qualitatively by polymerase chain reaction (PCR)-fluorescence probe technique, to analyze the distribution characteristics of polymorphism and compare the genotype distribution difference between male and female. Results The observed mutation frequencies of ApoE and SLCO1B1 gene polymorphism of Han nationality in Hebei region were consistent with the Hardy-Weinberg genetic balance. Moreover, there was no significant difference in the distribution of ApoE gene polymorphism at 388T > C and 526C > T and SLCO1B1 gene polymorphism at 388A > G and 521T > C between men and women (P > 0.05). Among the six genotypes of ApoE in Han nationality people, genotype ε3/ε3 accounted for 68.57% (2875/4193), followed by ε3/ε4 (15.48%, 649/4193), ε2/ε3 (12.81%, 537/4193), ε2/ε4 (1.69%, 71/4193), ε4/ε4 (0.98%, 41/4193), and ε2/ε2 (0.48%, 20/4193). There was no significant difference in the distribution of ApoE gene phenotypes between male and female (P=0.223). Among the seven genotypes of SLCO1B1 gene, *1b/*1b and *1a/*1b accounted for the largest proportion 39.57% (1659/4193) and 31.05% (1302/4193), while other genotypes *1b/*15, *1a/*1a, *1a/*15, *15/*15 and *1a/*5 accounted for 14.31% (600/4193), 7.20% (302/4193), 6.42% (269/4193), 1.43% (60/4193) and 0.02% (1/4193) respectively. There was no significant difference in the distribution of SLCO1B1 gene phenotypes between male and female (P=0.078). Conclusions The distribution of ApoE and SLCO1B1 gene polymorphisms is different in patients with cardiovascular and cerebrovascular diseases in Han nationality of Hebei region, and the distribution of ApoE and SLCO1B1 genetic polymorphisms is independent of gender.

Key words: Cerebrovascular disorders, Cardiovascular diseases, Apolipoprotein E4, Solute carrier organic anion transporter family member 1b1, Genes, Han nationality, Hebei

何莎, 苟东芸, 王文远, 刘紫倩, 杨洁, 王彦永, 孙静娜, 张令怡, 马晓伟. 河北地区汉族心脑血管病患者ApoE和SLCO1B1基因多态性分析[J]. 中国现代神经疾病杂志, 2021, 21(5): 400-405.

HE Sha, GOU Dong-yun, WANG Wen-yuan, LIU Zi-qian, YANG Jie, WANG Yan-yong, SUN Jing-na, ZHANG Ling-yi, MA Xiao-wei. Analysis of ApoE and SLCO1B1 genetic polymorphisms of patients with Han nationality in Hebei region of China[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2021, 21(5): 400-405.

http://journal11.magtechjournal.com/cjcnn/CN/Y2021/V21/I5/400

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2 河北地区汉族心脑血管病患者ApoE和SLCO1B1基因多态性分析

Analysis of ApoE and SLCO1B1 genetic polymorphisms of patients with Han nationality in Hebei region of China

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2 河北地区汉族心脑血管病患者ApoE和SLCO1B1基因多态性分析

Analysis of ApoE and SLCO1B1 genetic polymorphisms of patients with Han nationality in Hebei region of China

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