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Geographical Distribution of MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in China: Findings from 15357 Adults of Han Nationality

BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphisms are important genetic determinants for homocysteine (Hcy) levels, and are associated with several disorders. These polymorphisms are heterogeneously distributed worldwide...

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Autores principales: Yang, Boyi, Liu, Yuyan, Li, Yongfang, Fan, Shujun, Zhi, Xueyuan, Lu, Xiangxiang, Wang, Da, Zheng, Quanmei, Wang, Yinuo, Wang, Yanxun, Sun, Guifan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589470/
https://www.ncbi.nlm.nih.gov/pubmed/23472119
http://dx.doi.org/10.1371/journal.pone.0057917
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author Yang, Boyi
Liu, Yuyan
Li, Yongfang
Fan, Shujun
Zhi, Xueyuan
Lu, Xiangxiang
Wang, Da
Zheng, Quanmei
Wang, Yinuo
Wang, Yanxun
Sun, Guifan
author_facet Yang, Boyi
Liu, Yuyan
Li, Yongfang
Fan, Shujun
Zhi, Xueyuan
Lu, Xiangxiang
Wang, Da
Zheng, Quanmei
Wang, Yinuo
Wang, Yanxun
Sun, Guifan
author_sort Yang, Boyi
collection PubMed
description BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphisms are important genetic determinants for homocysteine (Hcy) levels, and are associated with several disorders. These polymorphisms are heterogeneously distributed worldwide. Our objective was to explore the geographical distributions of these polymorphisms in China. METHODOLOGIES: 15357 healthy adults were recruited from 10 regions. Buccal samples were collected and genomic DNA was isolated. Genotyping was performed using the fluorogenic 5′-nuclease assay. PRINCIPAL FINDINGS: The prevalence of the three polymorphisms among different populations from China varied significantly and showed apparent geographical gradients. For MTHFR C677T, the frequencies of the 677T allele and the 677TT genotype were significantly higher among northern populations and ranged from the lowest values (24.0% and 6.4%, respectively) in Hainan (southern) to the highest values (63.1% and 40.8%, respectively) in Shandong (northern). For MTHFR A1298C, the 1298C allele and the 1298CC genotype frequencies were significantly higher among southern populations and increased from low values (13.1% and 1.4%, respectively) in Shandong to high values (25.7% and 6.7%, respectively) in Hainan. For A66G, the 66G allele and the 66GG genotype frequencies increased from lower values (23.7% and 5.4%, respectively) in Shandong to higher values (29.2% and 8.6%, respectively) in Hainan. The overall frequency of the 677T allele, 677TT genotype, 1298C allele, 1298CC genotype, 66G allele and 66GG genotype in the Chinese Han population was 45.2%, 23.2%, 18.6%, 3.9%, 25.7%, and 6.6%, respectively. No gender differences were found in the prevalence of both the MTHFR C677T and MTRR A66G polymorphisms. CONCLUSIONS: This study indicates that there are marked geographical variations in the prevalence of the three polymorphisms among Chinese Han populations. Our baseline data may be useful for future researches in related fields.
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spelling pubmed-35894702013-03-07 Geographical Distribution of MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in China: Findings from 15357 Adults of Han Nationality Yang, Boyi Liu, Yuyan Li, Yongfang Fan, Shujun Zhi, Xueyuan Lu, Xiangxiang Wang, Da Zheng, Quanmei Wang, Yinuo Wang, Yanxun Sun, Guifan PLoS One Research Article BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphisms are important genetic determinants for homocysteine (Hcy) levels, and are associated with several disorders. These polymorphisms are heterogeneously distributed worldwide. Our objective was to explore the geographical distributions of these polymorphisms in China. METHODOLOGIES: 15357 healthy adults were recruited from 10 regions. Buccal samples were collected and genomic DNA was isolated. Genotyping was performed using the fluorogenic 5′-nuclease assay. PRINCIPAL FINDINGS: The prevalence of the three polymorphisms among different populations from China varied significantly and showed apparent geographical gradients. For MTHFR C677T, the frequencies of the 677T allele and the 677TT genotype were significantly higher among northern populations and ranged from the lowest values (24.0% and 6.4%, respectively) in Hainan (southern) to the highest values (63.1% and 40.8%, respectively) in Shandong (northern). For MTHFR A1298C, the 1298C allele and the 1298CC genotype frequencies were significantly higher among southern populations and increased from low values (13.1% and 1.4%, respectively) in Shandong to high values (25.7% and 6.7%, respectively) in Hainan. For A66G, the 66G allele and the 66GG genotype frequencies increased from lower values (23.7% and 5.4%, respectively) in Shandong to higher values (29.2% and 8.6%, respectively) in Hainan. The overall frequency of the 677T allele, 677TT genotype, 1298C allele, 1298CC genotype, 66G allele and 66GG genotype in the Chinese Han population was 45.2%, 23.2%, 18.6%, 3.9%, 25.7%, and 6.6%, respectively. No gender differences were found in the prevalence of both the MTHFR C677T and MTRR A66G polymorphisms. CONCLUSIONS: This study indicates that there are marked geographical variations in the prevalence of the three polymorphisms among Chinese Han populations. Our baseline data may be useful for future researches in related fields. Public Library of Science 2013-03-05 /pmc/articles/PMC3589470/ /pubmed/23472119 http://dx.doi.org/10.1371/journal.pone.0057917 Text en © 2013 Yang et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Yang, Boyi
Liu, Yuyan
Li, Yongfang
Fan, Shujun
Zhi, Xueyuan
Lu, Xiangxiang
Wang, Da
Zheng, Quanmei
Wang, Yinuo
Wang, Yanxun
Sun, Guifan
Geographical Distribution of MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in China: Findings from 15357 Adults of Han Nationality
title Geographical Distribution of MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in China: Findings from 15357 Adults of Han Nationality
title_full Geographical Distribution of MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in China: Findings from 15357 Adults of Han Nationality
title_fullStr Geographical Distribution of MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in China: Findings from 15357 Adults of Han Nationality
title_full_unstemmed Geographical Distribution of MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in China: Findings from 15357 Adults of Han Nationality
title_short Geographical Distribution of MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in China: Findings from 15357 Adults of Han Nationality
title_sort geographical distribution of mthfr c677t, a1298c and mtrr a66g gene polymorphisms in china: findings from 15357 adults of han nationality
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589470/
https://www.ncbi.nlm.nih.gov/pubmed/23472119
http://dx.doi.org/10.1371/journal.pone.0057917
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