rs2278952
This variant is located in the PEMT gene.
▶Research that mentions this SNP (1)
▶A distinct and replicable variant of the squamous cell carcinoma gene inositol polyphosphate‐5‐phosphatase modifies the susceptibility of arsenic‐associated skin lesions in BangladeshAssociationN=4,222Wei Jie Seow et al.(2015)· Cancer
A case-control study of 540 cases and 400 controls in Bangladesh examined 25 candidate SNPs in inflammation, one-carbon metabolism, and skin cancer genes for associations with arsenic-induced skin lesions. Six SNPs showed significant gene-environment interactions with water arsenic exposure (PEMT rs2278952 P=0.004, rs897453 P=0.05; DHFR rs1650697 P=0.02; IL10 rs3024496 P=0.04; INPP5A rs1133400 P=0.03; XPC rs2228000 P=0.01), and the INPP5A rs1133400 interaction was successfully replicated in an independent population of 488 cases and 2,794 controls (P=0.03).
About PEMT
Phosphatidylcholine (PC) is the most abundant mammalian phospholipid. This gene encodes an enzyme which converts phosphatidylethanolamine to phosphatidylcholine by sequential methylation in the liver. Another distinct synthetic pathway in nucleated cells converts intracellular choline to phosphatidylcholine by a three-step process. The protein isoforms encoded by this gene localize to the endoplasmic reticulum and mitochondria-associated membranes. Alternate splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2012]
View all PEMT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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