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rs1801133

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Single Nucleotide Polymorphism within the MTHFR gene
SNP: rs1801133
Name(s)C677T, Ala222Val, A222V
GeneMTHFR
Chromosome1
External databases
EnsemblHuman SNPView
dbSNP1801133
HapMap1801133
SNPedia1801133
AlzGeneMeta-analysis
Overview
SzGeneMeta-analysis
Overview

C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene.

Among Americans the frequency of T-homozygosity ranges from 1% or less among people of sub-Saharan African descent to 20% or more among Italians and Hispanics.

It has been related to

In 2000 association studies on oral clefts, Down syndrome, and fetal anticonvulsant syndrome were either unreplicated or had yielded conflicting results.

Related genetic variants

A1298C is a SNP in the same gene. Studies have investigated the combined effect of C677T and A1298C.

References

  1. ^ L. D. Botto & Q. Yang (May 2000). "5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review". American Journal of Epidemiology. 151 (9): 862–867. doi:10.1093/oxfordjournals.aje.a010290. PMID 10791559.
  2. "Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) for (C677T) polymorphism, MTHFR gene". Schizophrenia Research Forum. Archived from the original on 2012-02-09. Retrieved 2007-03-11.
  3. "Meta-analysis of all published AD association studies (case-control only)". Alzheimer Research Forum. Archived from the original on 2012-02-25. Retrieved 2008-08-02.
  4. S. J. Lewis, D. A. Lawlor, G. Davey Smith, R. Araya, N. Timpson, I. N. M. Day & S. Ebrahim (April 2006). "The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis". Molecular Psychiatry. 11 (4): 352–60. doi:10.1038/sj.mp.4001790. PMID 16402130.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  5. Schmidt, Rebecca J.; Hansen, Robin L.; Hartiala, Jaanad; Allayee, Hoomand; Schmidt, Linda C.; Tancredi, Daniel J.; Tassone, Florab; Hertz-Picciotto, Irvaa (2011). "Prenatal Vitamins, One-carbon Metabolism Gene Variants, and Risk for Autism". Epidemiology. 22 (4): 476–485. doi:10.1097/EDE.0b013e31821d0e30. PMC 3116691. PMID 21610500. Retrieved 2011-06-20.
  6. Naomi Q. Hanson, Ömer Aras, Feng Yang & Michael Y. Tsai (April 2001). "C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase gene: incidence and effect of combined genotypes on plasma fasting and post-methionine load homocysteine in vascular disease". Clinical Chemistry. 47 (4): 661–666. doi:10.1093/clinchem/47.4.661. PMID 11274015.{{cite journal}}: CS1 maint: multiple names: authors list (link)
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