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

Abstract

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

CLC Number:

R394.3

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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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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