rs4244593
This is a intron variant variant in the PEMT gene.
▶Research that mentions this SNP (1)
▶Polymorphisms in CHDH gene and the risk of tooth agenesisAssociationN=344Adrianna Mostowska et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology
This case-control study examined 21 SNPs in 13 folate and choline metabolism genes for associations with tooth agenesis (hypodontia/oligodontia) in a Polish population of 159 cases and 185 controls. The CHDH gene variant rs6445606 showed the strongest association with a protective effect (OR=0.434, p=0.0004), with individuals carrying the C allele having reduced risk of tooth agenesis. Multifactor dimensionality reduction analysis revealed a significant epistatic interaction between CHDH rs6445606 and PLD2 rs3764897 (p=0.004).
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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