The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations

Dávalos, Ingrid P.; Olivares, Norma; Castillo, Marı́a-Teresa; Cantú, José-María; Ibarra, B; Sandoval, Lucila; Moran, M.C.; Gallegos‐Arreola, Martha Patricia; Chakraborty, Ranajit; Rivas, Fernando

doi:10.1016/s0003-3995(00)90012-1

Cited by 41 publications

(46 citation statements)

References 21 publications

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“…The lack of CC individuals may have occurred because of random variation or may have unknown biologic relevance. The 19.6% of Hispanic case children with the CC genotype is, nevertheless, within the range of frequencies reported in native Mexican populations (Davalos et al, 2000).…”

Section: Resultssupporting

confidence: 67%

Infant C677T MTHFR polymorphism and severe mental retardation

Shaw¹,

Jelliffe‐Pawlowski

Nelson³

et al. 2006

Birth Defects Research

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BACKGROUND:We investigated whether infants with homozygous genotype TT of the MTHFR gene were at increased risk of severe mental retardation. METHODS: One hundred children with severe mental retardation (cases) were investigated from a large geographic-based study of infants born in California in 1992-1993. Cases were compared to 743 randomly selected nonmalformed control infants born in California during 1987-1991. DNA was extracted from newborn screening filter papers. Cases and controls were genotyped TT if homozygous for the MTHFR C677T allele, CT if heterozygous for the C677T allele, and CC if homozygous for the C677 (wild type) allele. RESULTS: Overall, case and control infants had similar percentages of TT and CT genotypes. Percentages between cases and controls differed somewhat across race/ethnic groups. Elevated ORs of 1.9 (95% CI: 0.7-5.0) and 2.6 (95% CI: 1.1-5.8) were observed for the TT and CT genotypes, respectively, among Hispanic children. Observed results were not substantially altered for analyses that removed 41 case children who also had structural birth defects. CONCLUSIONS: Folate-related mechanisms are important to investigate for etiologies of birth defects, and such lines of inquiry may be revealing for mental retardation given the relationships between mental retardation and birth defects and potential relationships between folate, DNA methylation, and mental retardation. Birth Defects Research (Part A) 79: 24-26, 2007.

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Section: Resultssupporting

confidence: 67%

Infant C677T MTHFR polymorphism and severe mental retardation

Shaw¹,

Jelliffe‐Pawlowski

Nelson³

et al. 2006

Birth Defects Research

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“…Due to the involvement of the polymorphisms C677T and A1298C in MTHFR enzyme activity (van der Put et al, 1998;Weisberg et al, 1998;Friedman et al, 1999 We compared the 677T allele frequency obtained in the study groups investigated (70.3% for Nahuas and 70.2% for Mixtecas) with the frequencies reported in other ethnic groups of Mexico, including Huichol, Tarahumara, and Purepecha (56, 36, and 57%, respectively) (Dávalos et al, 2000). There were significant differences between the three ethnic groups compared with Nahuas (Huicholes, P = 0.004; Tarahumaras, P < 0.001; and Purepechas, P = 0.042).…”

Section: Discussionmentioning

confidence: 99%

“…Mexico has one of the world's highest frequencies for the C677T polymorphism, which varies from 36 to 58%; however, important differences are observed among ethnic groups in Mexico (Mutchinick et al, 1999;Dávalos et al, 2000;González-Herrera et al, 2002). Moreover, the distribution of the A1298C polymorphism in ethnic groups of Mexico is unknown, and has only been reported for the Mestizo population with a frequency of 14 to 21% for heterozygous carriers (Guéant-Rodriguez et al, 2006;Gonzalez-Herrera et al, 2007;Pilsner et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico

Antonio-Véjar¹,

Moral-Hernández²,

Alarcón-Romero³

et al. 2014

Genet. Mol. Res.

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ABSTRACT. In this study, we examined the distribution of genotype and allele frequencies of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase gene (MTHFR) in two ethnic groups in the State of Guerrero, Mexico, which were compared with those of the Mestizo population of the region. A comparative study was conducted on 455 women from two ethnic groups and a group of Mestizo women of the State of Guerrero, Mexico: 135 Nahuas, 124 Mixtecas, and 196 Mestizas. Genotyping of both polymorphisms were performed by using polymerase chain reaction-restriction fragment length polymorphism methods. We found that the 677TT genotype was more frequent in Nahua and Mixteca women compared to Mestiza women (P = 0.008), and the most prevalent genotype in both ethnic groups was the 1298AA genotype (P < 0.001). We also compared Ethnic variation of MTHFR polymorphisms in Mexico the 677T allele frequency obtained from the groups studied with the frequencies reported in other ethnic groups of Mexico (Huichol, Tarahumara, and Purepecha). There were significant differences between the three ethnic groups compared to Nahuas (Huicholes, P = 0.004; Tarahumaras, P < 0.001; Purepechas, P = 0.042). Our results indicated significant differences in the frequencies of the C677T and A1298C polymorphisms between the two ethnic groups and the Mestizo population of the State of Guerrero. In addition, we found strong differences with other ethnic groups in Mexico. These results could be useful for future studies investigating diseases related to folate metabolism, and could help the government to design specific nutrition programs for different ethnic groups.

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“…Tiene una amplia distribución en el mundo, donde exhibe una gran variabilidad. En mestizos del centro, este, occidente y norte de México se ha reportado una frecuencia alélica muy alta (58,6%) (Mutchinick et al, 1999), igual en Yucatán 54% (Gonzalez-Herrera et al, 2002), y un poco menor en Nuevo León 36% (Rodriguez-Moran et al); en un grupo poblacional de etnia Tarahumara del 36% (Davalos et al, 2000). No se puede descartar la participación de otros genes sensibles a la actividad del AF, tal como se ha observado en algunos modelos animales, particularmente con los genes Cart1 y Cd (Martínez-Villarreal et al).…”

Section: Discussionunclassified

Relación entre los Niveles de Ácido Fólico, Vitamina B12 y Homocisteína Materna y los Defectos de Tubo Neural y Labio Hendido

Chávez-Corral

Velazco-Campos²,

Sanı́n

et al. 2008

Int. J. Morphol.

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RESUMEN:El objetivo del trabajo fue determinar la asociación entre los niveles de ácido fólico, vitamina B 12 (Vit B 12 ) y homocisteína (Hci) maternos, con defectos del tubo neural (DTN) y labio hendido (LH) con y sin paladar hendido (c/s PH). Se realizó un estudio tipo casos y controles. Casos, con diagnóstico de DTN y LH c/s PH (n=36) y cuatro controles hospitalarios por caso (n=141). Se incluyeron recién nacidos (RN) y lactantes hasta 12 meses de edad. Las variables de pareamiento fueron: edad del RN o lactante, etnia y hospital. Un 23% de etnia Tarahumara y 77% mestizos. Se determinó ácido fólico intraeritrocitario (AFI), plasmático (AFP) y Vit B 12 por radioinmunoensayo, la Hci por inmunoensayo de fluorescencia polarizada. Se consideró deficiencia si el AFI fue <160 ng/mL, AFP <3.5 ng/ mL y la Vit B12 <200 pg/mL e hiperhomocisteinemia, si Hci >15 µ mol/L. El análisis estadístico se realizó a través de regresión logística condicionada. Se identificó deficiencia de AFI en el 22% de las mujeres cuyos recién nacidos o lactantes presentaron algún tipo de defecto congénito y en el 12% de los controles. La relación entre AFI y DTN, LH c/s PH ajustada por edad materna, exposición a plaguicidas y zona de residencia fue RM 2,96 (IC 95% 0,46). No se encontraron diferencias en los niveles de Hci ni de Vit B 12 . Conclusiones: Nuestros resultados sugieren que RN cuyas madres cursan con una deficiencia de AFI tienen mayor riesgo de presentar DTN y LH c/s PH.

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The C677T polymorphism of the methylenetetrahydrofolate reductase gene in Mexican mestizo neural-tube defect parents, control mestizo and native populations

Cited by 41 publications

References 21 publications

Infant C677T MTHFR polymorphism and severe mental retardation

Infant C677T MTHFR polymorphism and severe mental retardation

Ethnic variation of the C677T and A1298C polymorphisms in the methylenetetrahydrofolate-reductase (MTHFR) gene in southwestern Mexico

Relación entre los Niveles de Ácido Fólico, Vitamina B12 y Homocisteína Materna y los Defectos de Tubo Neural y Labio Hendido

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