rs12325817

This variant is located in the PEMT gene.

▶

Research that mentions this SNP (2)

▶
Higher homocysteine and lower betaine increase the risk of microangiopathy in patients with diabetes mellitus carrying the GG genotype of PEMT G774C
AssociationN=372Li Chen et al.(2013)· Diabetes/Metabolism Research and Reviews

A hospital-based case-control study of 372 Han Chinese examining the association between PEMT G774C (rs12325817), serum metabolites (homocysteine, choline, betaine), and type 2 diabetes with microangiopathy risk. Elevated homocysteine and low betaine levels were associated with increased microangiopathy risk, particularly in GG genotype carriers (OR 14.373 for highest homocysteine tertile, p<0.001). The C allele showed protective effects (OR 0.558 for microangiopathy, p<0.05).

Traits studied:Diabetic microangiopathyDiabetic nephropathyDiabetic retinopathyType 2 diabetes mellitus
PubMedDOIMetascience Observatory
▶
Folate and vitamin B12-related genes and risk for omphalocele
AssociationN=930James L. Mills et al.(2012)· Human Genetics

Case-control study of 169 omphalocele cases and 761 controls examining variants in folate, vitamin B12, and homocysteine metabolism genes. Variants in transcobalamin receptor (TCblR) rs2232775 (Q8R) and methylenetetrahydrofolate reductase (MTHFR) rs1801131 (1298A>C) were significantly associated with omphalocele (TCblR OR=3.20, p=0.0017; MTHFR OR=2.04, p=0.028). Additional race-ethnicity-specific associations were found with TCN2, BHMT rs3733890, and FOLH1 variants, suggesting disruption of methylation reactions as a potential risk factor.

Traits studied:Omphalocele
PubMedDOIMetascience Observatory

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…