潮汕地区汉族人群MTHFR基因rs1801131多态性与非综合征型唇腭裂的相关性研究

doi:10.3969/j.issn.1004-616x.2021.05.003

癌变·畸变·突变 ›› 2021, Vol. 33 ›› Issue (5): 334-337,344.doi: 10.3969/j.issn.1004-616x.2021.05.003

潮汕地区汉族人群MTHFR基因rs1801131多态性与非综合征型唇腭裂的相关性研究

陆雪梅^1,2, 许铭炎^1,3, 刘庭英³, 张秋芳¹, 邓小玲²

1. 厦门医学院附属口腔医院, 厦门市口腔疾病诊疗重点实验室, 福建厦门 361003;
2. 厦门大学医学院基础医学部, 福建厦门 361102;
3. 汕头大学医学院第二附属医院唇腭裂中心, 广东汕头 515041

收稿日期:2021-01-02 修回日期:2021-05-10 出版日期:2021-09-30 发布日期:2021-10-09
通讯作者: 许铭炎,E-mail:myxu@xmu.edu.cn;邓小玲,E-mail:xiaolingdeng@xmu.edu.cn E-mail:myxu@xmu.edu.cn;xiaolingdeng@xmu.edu.cn
作者简介:陆雪梅,E-mail:xuemeilu18@163.com。
基金资助:
重生行动——全国贫困家庭唇腭裂儿童手术康复计划项目

Associations between MTHFR rs1801131 polymorphisms and non-syndromic cleft lips with or without cleft palates in a Han population, Chaoshan, China

LU Xuemei^1,2, XU Mingyan^1,3, LIU Tingying³, ZHANG Qiufang¹, DENG Xiaoling²

1. Affiliated Stomatological Hospital of Xiamen Medical College, Xiamen Key Laboratory of Stomatological Disease Diagnosis and Treatment, Xiamen 361003;
2. Department of Basic Medical Science, School of Medicine, Xiamen University, Xiamen 361102, Fujian;
3. Cleft Lip and Palate Treatment Centre of Second Affiliated Hospital of Shantou University Medical College, Shantou 515041, Guangdong, China

Received:2021-01-02 Revised:2021-05-10 Online:2021-09-30 Published:2021-10-09

摘要/Abstract

摘要： 目的：研究5，10-亚甲基四氢叶酸还原酶（MTHFR）基因rs1801131位点多态性与潮汕地区汉族人群非综合征型唇腭裂（NSCL/P）的相关性。方法：收集潮汕地区汉族人群NSCL/P患儿357名、患儿父亲199名、患儿母亲198名及健康对照者354名的外周血，提取基因组DNA，应用基质辅助激光解吸电离飞行时间质谱技术检测MTHFR基因rs1801131位点的基因多态性。采用卡方检验对病例组与正常对照组基因型、等位基因频率进行比较分析。在核心家庭中进行等位基因的传递不平衡检验。家系分析由FBAT2.0.2软件完成。结果：病例组及正常对照组MTHFR基因rs1801131位点基因型频率分布均符合Hardy-Weinberg平衡。病例-对照研究发现rs1801131位点基因型多态性和等位基因多态性与NSCL/P的发病风险无显著相关关系（P > 0.05），核心家庭等位基因A或C均不存在传递不平衡（P > 0.05），家系分析显示该人群NSCL/P的发病与rs1801131位点等位基因的分布频率无显著相关关系（P > 0.05）。结论：MTHFR基因rs1801131位点多态性与潮汕地区汉族人群NSCL/P发病无显著相关。

关键词: MTHFR rs1801131, 基因多态性, 非综合征型唇腭裂, 相关性

Abstract: OBJECTIVE: To investigate associations between MTHFR rs1801131 polymorphisms and susceptibility to non-syndromic cleft lips with or without cleft palates (NSCL/P) in a Han population which was located in the Chaoshan area,China. METHODS: Peripheral blood samples from 357 NSCL/P children,199 fathers, 198 mothers and 354 healthy controls were collected. Genomic DNA samples were extracted and polymorphisms of the MTHFR rs1801131 was detected by matrix-assisted laser desorbed ionization time-offlight mass spectrometry (MALDI-TOF-MS). The chi-square test was used to compare the genotypes and allele frequencies between the case and the normal control groups. The transmission disequilibrium test (TDT) was conducted in the cleft case-parents trios. The family-based genetic analyses were completed by FBAT 2.0.2 software. The genotype frequency distributions of rs1801131 in both the case and control groups were in accordance with Hardy-Weinberg equilibrium. RESULTS: The case-control study showed that the genotype and allele distribution frequencies of the rs1801131 locus were not associated with risk of NSCL/P (P > 0.05), and there was no evidence of allele A or C transmission disequilibrium at rs1801131 in cleft case-parents trios (P > 0.05). Family-based association test (FBAT) analyses provided no evidence of NSCL/P risk with single allele A or C of rs1801131. CONCLUSION: Our study suggested that MTHFR rs1801131 polymorphisms were not associated with risk of NSCL/P in the study population.

Key words: MTHFR rs1801131, gene polymorphism, nonsyndromic cleft lip with or without cleft palate, association

中图分类号:

R394.3

陆雪梅, 许铭炎, 刘庭英, 张秋芳, 邓小玲. 潮汕地区汉族人群MTHFR基因rs1801131多态性与非综合征型唇腭裂的相关性研究[J]. 癌变·畸变·突变, 2021, 33(5): 334-337,344.

LU Xuemei, XU Mingyan, LIU Tingying, ZHANG Qiufang, DENG Xiaoling. Associations between MTHFR rs1801131 polymorphisms and non-syndromic cleft lips with or without cleft palates in a Han population, Chaoshan, China[J]. Carcinogenesis, Teratogenesis & Mutagenesis, 2021, 33(5): 334-337,344.

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潮汕地区汉族人群MTHFR基因rs1801131多态性与非综合征型唇腭裂的相关性研究

Associations between MTHFR rs1801131 polymorphisms and non-syndromic cleft lips with or without cleft palates in a Han population, Chaoshan, China

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