- Rs1801133
Infobox Single nucleotide polymorphism
name_1 = C677T
name_2 = Ala222Val
name_3 = A222V
rsid = 1801133
gene = MTHFR
chromosome = 1
alzgene_geneid = 70
alzgene_polyid = 155
szgene_geneid = 4
szgene_polyid = 31C677T or rs1801133 is a genetic variation—a
single nucleotide polymorphism (SNP)—in the "MTHFR "gene .Among Americans the frequency of T-homezygosity ranges from 1% or less among Blacks to 20% or more among Italiens and Hispanics.Cite journal
author =L. D. Botto &Q. Yang
title = 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review
journal =American Journal of Epidemiology
volume = 151
issue = 9
pages = 862–867
year = 2000
month = May
pmid = 10791559]It has been related to
*schizophrenia Cite web
url = http://www.schizophreniaforum.org/res/sczgene/meta.asp?geneID=4
title = Meta-Analysis of All Published Schizophrenia-Association Studies (Case-Control Only) for rs1801133 (C677T) polymorphism, MTHFR gene
publisher =Schizophrenia Research Forum
accessdate = 2007-03-11]
*Alzheimer's disease [Cite web
title = Meta-analysis of all published AD association studies (case-control only) rs1801133
url = http://www.alzforum.org/res/com/gen/alzgene/meta.asp?geneID=70&polyID=155
publisher =Alzheimer Research Forum
accessdate = 2008-08-02]
* depression [Cite journal
author =S. J. Lewis ,D. A. Lawlor ,G. Davey Smith ,R. Araya ,N. Timpson ,I. N. M. Day &S. Ebrahim
title = The thermolabile variant of MTHFR is associated with depression in the British Women's Heart and Health Study and a meta-analysis
journal =Molecular Psychiatry
volume = 11
issue = 4
pages = 352–350
year = 2006
month = April
doi = 10.1038/sj.mp.4001790
pmid = 16402130]
*spina bifida .In 2000 association studies on
oral cleft s,Down syndrome , andfetal 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. [Cite journal
author =Naomi Q. Hanson ,Ömer Aras ,Feng Yang &Michael Y. Tsai
title = 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
journal = Clinical Chemistry
volume = 47
issue = 4
pages = 661–666
year = 2001
month = April
pmid = 11274015]References
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