Distribution and comparison of warfarin drug-gene polymorphism in Han children from Beijing area

MA Xiaomei; ZHANG Mingming; WANG Hongmao; MENG Li; LI Xiaohui

doi:10.6039/j.issn.1001-0408.2024.14.15

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Distribution and comparison of warfarin drug-gene polymorphism in Han children from Beijing area

更新时间：2024-07-25

- Distribution and comparison of warfarin drug-gene polymorphism in Han children from Beijing area
- ZHONGGUO YAOFANG Vol. 35, Issue 14, Pages: 1759-1764(2024)
- 作者机构：
  
  1.首都儿科研究所附属儿童医院心血管内科，北京　100020
  2.北京大学首都儿科研究所教学医院心血管内科，北京　100020
- 作者简介：
- 基金信息：
- DOI：10.6039/j.issn.1001-0408.2024.14.15
  CLC： R968;R973+.2
- Published：30 July 2024，
  
  Received：26 December 2023，
  
  Revised：12 April 2024，
- 稿件说明：
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马晓妹,张明明,王宏茂等.北京地区汉族儿童华法林药物基因多态性的分布与比较 ^Δ[J].中国药房,2024,35(14):1759-1764.

MA Xiaomei,ZHANG Mingming,WANG Hongmao,et al.Distribution and comparison of warfarin drug-gene polymorphism in Han children from Beijing area[J].ZHONGGUO YAOFANG,2024,35(14):1759-1764.
马晓妹,张明明,王宏茂等.北京地区汉族儿童华法林药物基因多态性的分布与比较 ^Δ[J].中国药房,2024,35(14):1759-1764. DOI： 10.6039/j.issn.1001-0408.2024.14.15.

MA Xiaomei,ZHANG Mingming,WANG Hongmao,et al.Distribution and comparison of warfarin drug-gene polymorphism in Han children from Beijing area[J].ZHONGGUO YAOFANG,2024,35(14):1759-1764. DOI： 10.6039/j.issn.1001-0408.2024.14.15.

摘要

目的

分析北京地区汉族儿童华法林药物基因多态性的分布特点。

方法

收集2019年3月至2023年3月在首都儿科研究所附属儿童医院心血管内科住院患儿

VKORC1

rs9923231、

CYP2C9

rs1799853*2、

CYP2C9

rs1057910*3、

CYP4F2

rs2108622

、APOE

rs429358

、APOE

rs7412、

ABCB1

rs1045642、

EPHX1

rs1051740

、EPHX1

rs2234922共6个基因9个华法林药物基因位点信息，并与国内外文献已报道人群数据进行比较。

结果

北京地区汉

族儿童

APOE

rs429358突变基因型频率男性（19.8%）高于女性（13.5%）（

＜0.05）。北京地区汉族儿童

VKORC1

rs9923231以纯合突变型（83.3%）为主，与日本儿童（82.2%）一致，高于以白种人为主的英国、瑞典、美国、德国儿童（10.4%～18.3%）（

＜0.05）。北京地区汉族儿童

CYP2C9

以*1/*1型（91.9%）为主，与日本儿童（94.6%）一致，高于以白种人为主的英国、瑞典、美国、德国（66.1%～73.4%）（

＜0.05）。

EPHX1

rs1051740突变基因型频率成人（78.5%）高于儿童（63.5%）（

＜0.05）。

结论

北京地区汉族儿童

VKORC1

rs9923231

、ABCB1

rs1045642突变较多；其华法林药物基因多态性在不同性别、与不同国家以及与中国汉族成人的比较中均存在一定的分布差异，用药时需谨慎使用已报道数据。

Abstract

OBJECTIVE

To analyze the distribution characteristics of warfarin drug-gene polymorphism in Han children from Beijing area.

METHODS

Data of nine warfarin drug-gene loci about

VKORC1

rs9923231，

CYP2C9

rs1799853*2 and

rs1057910*3，

CYP4F2

rs2108622，

APOE

rs429358

and rs7412，

ABCB1

rs1045642，

EPHX1

rs1051740

and rs2234922 were collected from dept. of cardiovascular medicine， Children’s Hospital Affiliated to Capital Institute of Pediatrics from March 2019 to March 2023， and the population data reported in domestic and foreign literature were compared.

RESULTS

In Beijing area， the frequency of

APOE

rs429358 mutant genotype was higher in males （19.8%） than in females （13.5%）（

＜0.05）.

VKORC1

rs9923231 was dominated by homozygous mutant genotype （83.3%）， which was consistent with children in Japan （82.2%）， and higher than that of predominantly Caucasian children in the UK， Sweden， the United States， and Germany （10.4%-18.3%）（

＜0.05）；

CYP2C9

was dominated by *1/*1 type （91.9%）， which was consistent with children in Japan （94.6%）， and higher

than that of predominantly Caucasian children in the UK， Sweden， the United States， and Germany （66.1%-73.4%）（

＜0.05）. The frequency of

EPHX1

rs1051740 mutant genotype was higher in adults （78.5%） than in children （63.5%）（

＜0.05）.

CONCLUSIONS

More mutations of

VKORC1

rs9923231 and

ABCB1

rs1045642 are found in Han children from Beijing area. The distribution of warfarin drug-gene polymorphisms in Han children from Beijing area is different among different genders， as well as compared with other countries， and Chinese Han adults. Therefore， caution should be exercised when using the reported data.

关键词

华法林基因多态性药物基因组学儿童药物遗传学

Keywords

gene polymorphismpharmacogenomicschildrenpharmacogenetics

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