rs1801198
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common |
| (G;G) | 2 | Some increase in peripheral neuropathy risk in older adults taking folate |
| Make rs1801198(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 30615623 |
| Gene | TCN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801198 |
| dbSNP (classic) | rs1801198 |
| ClinGen | rs1801198 |
| ebi | rs1801198 |
| HLI | rs1801198 |
| Exac | rs1801198 |
| Gnomad | rs1801198 |
| Varsome | rs1801198 |
| LitVar | rs1801198 |
| Map | rs1801198 |
| PheGenI | rs1801198 |
| Biobank | rs1801198 |
| 1000 genomes | rs1801198 |
| hgdp | rs1801198 |
| ensembl | rs1801198 |
| geneview | rs1801198 |
| scholar | rs1801198 |
| rs1801198 | |
| pharmgkb | rs1801198 |
| gwascentral | rs1801198 |
| openSNP | rs1801198 |
| 23andMe | rs1801198 |
| SNPshot | rs1801198 |
| SNPdbe | rs1801198 |
| MSV3d | rs1801198 |
| GWAS Ctlg | rs1801198 |
| GMAF | 0.4128 |
| Max Magnitude | 2 |
rs1801198, also known as c.776G>C, p.Arg259Pro and R259P, is a common variant in the TCN2 gene on chromosome 22. Note that in older (pre-2003) literature this variant was known as c.775G>C.
A relatively small study published in 2016 of ~170 adults over 60 years of age concluded that rs1801198(G;G) individuals have significantly (~3x) higher risk of peripheral neuropathy, even with a normal vitamin B-12 status, and especially if their folate intake is >800 micrograms/day (i.e. 2 times the Recommended Dietary Allowance, with a reported OR of 6.9, CI:1.31- 36.36). In other words, excess folate (including folic acid) is more likely to lead to a burning, tingling or numbness in the hands and feets of older adults who happen to be rs1801198(G;G) genotypes. There was no difference in neuropathy risk between genotypes when folate intake was less than 800 micrograms per day; overall, the odds of neuropathy were 3-fold higher for GG genotypes than for CC genotypes (OR 3.33, CI: 1.15-9.64).[PMID 27733392
]
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21429654] Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility
[PMID 22794911] A candidate gene study of one-carbon metabolism pathway genes and colorectal cancer risk
| ClinVar | |
|---|---|
| Risk | rs1801198(A;A) Rs1801198(C;C) |
| Alt | rs1801198(A;A) Rs1801198(C;C) |
| Reference | Rs1801198(G;G) |
| Significance | Non-pathogenic |
| Disease | TCN2 POLYMORPHISM Transcobalamin II deficiency not specified |
| Variation | info |
| Gene | TCN2 |
| CLNDBN | TCN2 POLYMORPHISM Transcobalamin II deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000022.10:g.31011610G>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000000117.2, RCV000374451.1, RCV000454394.1, |
[PMID 17035141] Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
[PMID 17220211] Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2).
[PMID 18203168] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.
[PMID 18661527] Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.
[PMID 19936946] Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.
[PMID 20111745] Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.
[PMID 21688148] Polymorphic variants of genes involved in homocysteine metabolism in celiac disease.
[PMID 22183302] Folate and choline metabolism gene variants in relation to ovarian cancer risk in the Polish population.
[PMID 23089108] Idiopathic pulmonary fibrosis and polymorphisms of the folate pathway genes
[PMID 26540672] Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway
