Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico.
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases. Hence, MTHFR genetic variants have been studied worldwide, particularly the C677T and A1298C....
| Main Authors: | , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2016-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC5029802?pdf=render |
| _version_ | 1828340119042523136 |
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| author | Cecilia Contreras-Cubas Beatríz E Sánchez-Hernández Humberto García-Ortiz Angélica Martínez-Hernández Francisco Barajas-Olmos Miguel Cid Elvia C Mendoza-Caamal Federico Centeno-Cruz Gabriela Ortiz-Cruz José Concepción Jiménez-López Emilio J Córdova Eva Gabriela Salas-Bautista Yolanda Saldaña-Alvarez Juan Carlos Fernández-López Osvaldo M Mutchinick Lorena Orozco |
| author_facet | Cecilia Contreras-Cubas Beatríz E Sánchez-Hernández Humberto García-Ortiz Angélica Martínez-Hernández Francisco Barajas-Olmos Miguel Cid Elvia C Mendoza-Caamal Federico Centeno-Cruz Gabriela Ortiz-Cruz José Concepción Jiménez-López Emilio J Córdova Eva Gabriela Salas-Bautista Yolanda Saldaña-Alvarez Juan Carlos Fernández-López Osvaldo M Mutchinick Lorena Orozco |
| author_sort | Cecilia Contreras-Cubas |
| collection | DOAJ |
| description | Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases. Hence, MTHFR genetic variants have been studied worldwide, particularly the C677T and A1298C. We genotyped the C677T and A1298C MTHFR polymorphisms in Mexican Amerindians (MAs), from the largest sample included in a genetic study (n = 2026, from 62 ethnic groups), and in a geographically-matched Mexican Mestizo population (MEZ, n = 638). The 677T allele was most frequent in Mexican individuals, particularly in MAs. The frequency of this allele in both MAs and MEZs was clearly enriched in the South region of the country, followed by the Central East and South East regions. In contrast, the frequency of the 1298C risk allele in Mexicans was one of the lowest in the world. Both in MAs and MEZs the variants 677T and 1298C displayed opposite allele frequency gradients from southern to northern Mexico. Our findings suggest that in Mestizos the 677T allele was derived from Amerindians while the 1298C allele was a European contribution. Some subgroups showed an allele frequency distribution that highlighted their genetic diversity. Notably, the distribution of the frequency of the 677T allele was consistent with that of the high incidence of NTDs reported in MEZ. |
| first_indexed | 2024-04-13T22:52:38Z |
| format | Article |
| id | doaj.art-ddcf348243e04641a19a0812ff1f6f1b |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-13T22:52:38Z |
| publishDate | 2016-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-ddcf348243e04641a19a0812ff1f6f1b2022-12-22T02:26:08ZengPublic Library of Science (PLoS)PLoS ONE1932-62032016-01-01119e016324810.1371/journal.pone.0163248Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico.Cecilia Contreras-CubasBeatríz E Sánchez-HernándezHumberto García-OrtizAngélica Martínez-HernándezFrancisco Barajas-OlmosMiguel CidElvia C Mendoza-CaamalFederico Centeno-CruzGabriela Ortiz-CruzJosé Concepción Jiménez-LópezEmilio J CórdovaEva Gabriela Salas-BautistaYolanda Saldaña-AlvarezJuan Carlos Fernández-LópezOsvaldo M MutchinickLorena OrozcoMethylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases. Hence, MTHFR genetic variants have been studied worldwide, particularly the C677T and A1298C. We genotyped the C677T and A1298C MTHFR polymorphisms in Mexican Amerindians (MAs), from the largest sample included in a genetic study (n = 2026, from 62 ethnic groups), and in a geographically-matched Mexican Mestizo population (MEZ, n = 638). The 677T allele was most frequent in Mexican individuals, particularly in MAs. The frequency of this allele in both MAs and MEZs was clearly enriched in the South region of the country, followed by the Central East and South East regions. In contrast, the frequency of the 1298C risk allele in Mexicans was one of the lowest in the world. Both in MAs and MEZs the variants 677T and 1298C displayed opposite allele frequency gradients from southern to northern Mexico. Our findings suggest that in Mestizos the 677T allele was derived from Amerindians while the 1298C allele was a European contribution. Some subgroups showed an allele frequency distribution that highlighted their genetic diversity. Notably, the distribution of the frequency of the 677T allele was consistent with that of the high incidence of NTDs reported in MEZ.http://europepmc.org/articles/PMC5029802?pdf=render |
| spellingShingle | Cecilia Contreras-Cubas Beatríz E Sánchez-Hernández Humberto García-Ortiz Angélica Martínez-Hernández Francisco Barajas-Olmos Miguel Cid Elvia C Mendoza-Caamal Federico Centeno-Cruz Gabriela Ortiz-Cruz José Concepción Jiménez-López Emilio J Córdova Eva Gabriela Salas-Bautista Yolanda Saldaña-Alvarez Juan Carlos Fernández-López Osvaldo M Mutchinick Lorena Orozco Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico. PLoS ONE |
| title | Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico. |
| title_full | Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico. |
| title_fullStr | Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico. |
| title_full_unstemmed | Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico. |
| title_short | Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico. |
| title_sort | heterogenous distribution of mthfr gene variants among mestizos and diverse amerindian groups from mexico |
| url | http://europepmc.org/articles/PMC5029802?pdf=render |
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