rs6499766
This is a downstream gene variant variant in the LPCAT2 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
hormone measurement, thyroxine level
▶Research that mentions this SNP (1)
▶Thyroid‐associated genetic polymorphisms in relation to breast cancer risk in the Malmö Diet and Cancer StudyAssociationN=4,058Jasmine Brandt et al.(2018)· International Journal of Cancer
This prospective nested case-control study examined 17 single nucleotide polymorphisms related to free thyroxine (fT4) and thyroid peroxidase antibody (TPO-Ab) levels in 865 breast cancer cases and 3,193 controls from the Malmö Diet and Cancer Study. The main findings identified fT4-related SNPs rs2235544 (DIO1 gene, OR for breast cancer risk in low fT4 women) and rs6485050, as well as TPO-Ab-related SNPs rs11675434, rs3094228, rs1033662, rs301806, and rs2071403 as potentially associated with breast cancer risk. The most promising association was rs2235544 (DIO1), where the C allele was associated with lower fT4 levels and increased breast cancer risk, particularly in women with low fT4 levels, suggesting a potential causal relationship.
About LPCAT2
This gene encodes a member of the lysophospholipid acyltransferase family. The encoded enzyme may function in two ways: to catalyze the biosynthesis of platelet-activating factor (1-O-alkyl-2-acetyl-sn-glycero-3-phosphocholine) from 1-O-alkyl-sn-glycero-3-phosphocholine, and to catalyze the synthesis of glycerophospholipid precursors from arachidonyl-CoA and lysophosphatidylcholine. The encoded protein may function in membrane biogenesis and production of platelet-activating factor in inflammatory cells. The enzyme may localize to the endoplasmic reticulum and the Golgi. [provided by RefSeq, Feb 2009]
View all LPCAT2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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