rs3762272
This is a downstream gene variant variant in the PKLR gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Predictive model for risk of gastric cancer using genetic variants from genome‐wide association studies and high‐evidence meta‐analysisAssociationN=2,287Lixin Qiu et al.(2020)· Cancer Medicine
This case-control study of 1,115 gastric cancer cases and 1,172 Eastern Chinese controls identified six SNPs (rs13361707, rs2294008, rs4072037, rs3762272, rs2274223, rs80142782) associated with increased gastric cancer risk with ORs ranging from 1.19–1.47. A predictive model combining these genetic variants with BMI achieved an AUC of 0.684 compared to 0.653 for BMI alone, and revealed a gene-environment interaction between low BMI and genetic risk variants.
About PKLR
The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
View all PKLR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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