<scp><i>MTHFR</i> C677T</scp> and <scp>A1298C</scp> variants in Mexican Mestizo infants with neural tube defects from Western Mexico

Aranda-Sánchez, Cristian Irela; Bobadilla‐Morales, Lucina; Corona‐Rivera, Alfredo; Cuero-Quezada, Idalid; Santana-Hernández, Jennifer; Baldomero-López, Alejandra; Romero-Bolaño, Yaneris M.; Peña-Padilla, Christian; Corona‐Rivera, Jorge Román

doi:10.1111/cga.12429

Cited by 4 publications

(4 citation statements)

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“…Given the relationship observed between folic acid intake, either through folic acid fortification or supplementation, and reduced incidence of neural tube defects, human studies of genetic determinants of neural tube defects have focused on genes involved in folate pathways (Wolujewicz & Ross, 2019). Many studies have examined the role of variants in genes involved in folate and one‐carbon metabolism in neural tube defect risk (Aranda‐Sánchez et al, 2021; Cadenas‐Benitez et al, 2014; Cai et al, 2019; Cao et al, 2018; Deb et al, 2011; Paul et al, 2018; Prasoona et al, 2016; van der Put et al, 1995; Wang et al, 2015; Yadav et al, 2015; Zheng et al, 2015), with findings often inconsistent across studies (Lupo et al, 2017). In our analysis including genetic variants spanning the genome, we did not observe significant differences in measured serum folate among mothers of cases and controls and did not identify any significant associations between genetic variants in genes relevant in folate pathways and case status in the child, maternal, or trio models.…”

Section: Discussionmentioning

confidence: 99%

Genome‐wide analysis of spina bifida risk variants in a case–control study from Bangladesh

Tindula,

Issac,

Mukherjee

et al. 2024

Birth Defects Research

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BackgroundHuman studies of genetic risk factors for neural tube defects, severe birth defects associated with long‐term health consequences in surviving children, have predominantly been restricted to a subset of candidate genes in specific biological pathways including folate metabolism.MethodsIn this study, we investigated the association of genetic variants spanning the genome with risk of spina bifida (i.e., myelomeningocele and meningocele) in a subset of families enrolled from December 2016 through December 2022 in a case–control study in Bangladesh, a population often underrepresented in genetic studies. Saliva DNA samples were analyzed using the Illumina Global Screening Array. We performed genetic association analyses to compare allele frequencies between 112 case and 121 control children, 272 mothers, and 128 trios.ResultsIn the transmission disequilibrium test analyses with trios only, we identified three novel exonic spina bifida risk loci, including rs140199800 (SULT1C2, p = 1.9 × 10−7), rs45580033 (ASB2, p = 4.2 × 10−10), and rs75426652 (LHPP, p = 7.2 × 10−14), after adjusting for multiple hypothesis testing. Association analyses comparing cases and controls, as well as models that included their mothers, did not identify genome‐wide significant variants.ConclusionsThis study identified three novel single nucleotide polymorphisms involved in biological pathways not previously associated with neural tube defects. The study warrants replication in larger groups to validate findings and to inform targeted prevention strategies.

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Section: Discussionmentioning

confidence: 99%

Genome‐wide analysis of spina bifida risk variants in a case–control study from Bangladesh

Tindula,

Issac,

Mukherjee

et al. 2024

Birth Defects Research

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“…La mutación A1298C está asociada con una leve reducción en la actividad de MTHFR in vivo e in vitro, y se ha sugerido que está asociada con un mayor riesgo de defectos del tubo neural (8) . Robien y Ulrich, publicaron un estudio de referencia en frecuencia de homocigotos CC 1298, donde reportan el valor más alto para la población alemana caucásica (10,7%), japonesa (3,7%), africana (4,38%) y el rango de distribución global fue de 1, 4-12,8% (24) .…”

Section: Frecuencias Del Genotipo Mthfr C677t En Población Venezolanaunclassified

“…Robien y Ulrich, publicaron un estudio de referencia en frecuencia de homocigotos CC 1298, donde reportan el valor más alto para la población alemana caucásica (10,7%), japonesa (3,7%), africana (4,38%) y el rango de distribución global fue de 1, 4-12,8% (24) . En población hispanoamericana hay reportes de población mexicana con una frecuencia de homocigotos CC 1298 de 2,2% (8) . Sozen et al, reportaron 3% de frecuencia de CC 1298 y 24% para heterocigotos AC en la población control del noroeste de Venezuela (9) .…”

Section: Frecuencias Del Genotipo Mthfr C677t En Población Venezolanaunclassified

“…Aunque se desconocen los mecanismos exactos, su deficiencia genera implicaciones graves que afectan tanto a la madre como al recién nacido al alterar procesos claves en esta etapa como es la síntesis y reparación del DNA así como la estabilidad y funcionalidad (expresión génica y mutaciones) del mismo, afectando también la síntesis de proteínas y otros compuestos e incrementando el estrés oxidativo (6) . La disminución del folato y el aumento de los niveles plasmáticos de Hcy están asociados con una variedad de afecciones comunes, tales como enfermedades cardiovasculares (7) , defectos del tubo neural (6,8) , labio o paladar hendido (9) , hipertensión (10) , preeclampsia y complicaciones del embarazo (11,12) , trombosis (13) , trisomìa 21 (14) , depresión /esquizofrenia (15,16) , autismo (17) , neuropatía diabética (18) , ACV isquémico (19) y enfermedades gastrointestinales (20) , entre otras.…”

Section: Introduccionunclassified

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Polimorfismo de proteína 5,10-metilentetrahidrofolato reductasa en población venezolana

Chacín,

Bravo,

Arends

2023

Rev Digit Postgrado

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El folato es un miembro del grupo de la vitamina B y está relacionado con enfermedades crónicas como anemia megaloblástica, enfermedad cardiovascular, cáncer, disfunción cognitiva y riesgo de defectos del tubo neural. La proteína 5,10- metilentetrahidrofolato reductasa (MTHFR) juega un papel clave en el metabolismo del folato mediante la síntesis de nucleótidos y reacciones de metilación. El gen MTHFR se encuentra en el cromosoma 1 (1p36.3), y se han descrito dos alelos comunes, el alelo C677T (termolábil) y el alelo A1298C. El objetivo de este estudio es evaluar la distribución de los polimorfismos genéticos en MTHFR C677T y A1298C en la población venezolana. METODOS: estudio de tipo transversal, descriptivo, experimental y correlacional Las muestras de sangre se colectaron en 314 donantes no emparentados y sanos de la población. Los polimorfismos de un solo nucleótido (SNP) MTHFR 677C>T y 1298A>C se analizaron mediante polimorfismo de longitud de fragmento de restricción de reacción en cadena de polimerasa (PCR-RFLP). El desequilibrio de ligamiento (LD) entre pares de SNP se calculó mediante la prueba X. usando Prism 5 (GraphPad software, Inc). RESULTADOS: Encontramos mayor frecuencia genotípica de heterocigotos para el polimorfismo MTHFR C677T en la población general venezolana, con excepción del grupo caucásico. El polimorfismo MTHFR A1298C en el 70% de la población de estudio es homocigoto de tipo salvaje, encontrándose una baja frecuencia de homocigoto mutado. CONCLUSIONES: Se encontraron diferencias significativas entre grupos étnicos, destacando la importancia del genotipado racial de estos polimorfismos en la población venezolana.

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Abnormal methylation caused by folic acid deficiency in neural tube defects

2022

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Neural tube closure disorders, including anencephaly, spina bifida, and encephalocele, cause neural tube defects (NTDs). This congenital disability remained not only a major contributor to the prevalence of stillbirths and neonatal deaths but also a significant cause of lifelong physical disability in surviving infants. NTDs are complex diseases caused by multiple etiologies, levels, and mechanisms. Currently, the pathogenesis of NTDs is considered to be associated with both genetic and environmental factors. Here, we aimed to review the research progress on the etiology and mechanism of NTDs induced by methylation modification caused by folic acid deficiency. Folic acid supplementation in the diet is reported to be beneficial in preventing NTDs. Methylation modification is one of the most important epigenetic modifications crucial for brain neurodevelopment. Disturbances in folic acid metabolism and decreased S-adenosylmethionine levels lead to reduced methyl donors and methylation modification disorders. In this review, we summarized the relationship between NTDs, folic acid metabolism, and related methylation of DNA, imprinted genes, cytoskeletal protein, histone, RNA, and non-coding RNA, so as to clarify the role of folic acid and methylation in NTDs and to better understand the various pathogenesis mechanisms of NTDs and the effective prevention.

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MTHFR C677T and A1298C variants in Mexican Mestizo infants with neural tube defects from Western Mexico

Cited by 4 publications

References 12 publications

Genome‐wide analysis of spina bifida risk variants in a case–control study from Bangladesh

Genome‐wide analysis of spina bifida risk variants in a case–control study from Bangladesh

Polimorfismo de proteína 5,10-metilentetrahidrofolato reductasa en población venezolana

Abnormal methylation caused by folic acid deficiency in neural tube defects

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