rs4644
This is a protein-altering variant in the LGALS3 gene.
▶Research that mentions this SNP (2)
▶Galectin‐3 and venous thromboembolism incidence: the Atherosclerosis Risk in Communities (ARIC) StudyAssociationN=9,916Oluwaseun E. Fashanu et al.(2017)· Research and Practice in Thrombosis and Haemostasis
In the ARIC prospective cohort study (n=9,916), plasma galectin-3 concentration was positively associated with venous thromboembolism (VTE) incidence, with hazard ratio of 1.55 (95% CI: 1.09-2.19) for the highest versus lowest quintile. The LGALS3 rs4644 SNP's C allele was associated with higher galectin-3 levels and increased VTE risk in whites (52% higher for CC genotype vs AA). A meta-analysis of ARIC and CHS yielded a pooled hazard ratio of 1.10 (95% CI: 1.00-1.22) per 1 SD increment in log galectin-3, indicating a positive association.
▶A galectin‐3 sequence polymorphism confers TRAIL sensitivity to human breast cancer cellsFunctionalNachman Mazurek et al.(2011)· Cancer
A galectin-3 sequence polymorphism (rs4644, P64H) influences TRAIL sensitivity in breast cancer cells. The His64 variant confers TRAIL sensitivity through PTEN upregulation and PI3K/Akt pathway inactivation, while the Pro64 variant results in TRAIL resistance. This functional finding suggests the polymorphism could explain disparities in breast cancer outcomes across populations.
About LGALS3
This gene encodes a member of the galectin family of carbohydrate binding proteins. Members of this protein family have an affinity for beta-galactosides. The encoded protein is characterized by an N-terminal proline-rich tandem repeat domain and a single C-terminal carbohydrate recognition domain. This protein can self-associate through the N-terminal domain allowing it to bind to multivalent saccharide ligands. This protein localizes to the extracellular matrix, the cytoplasm and the nucleus. This protein plays a role in numerous cellular functions including apoptosis, innate immunity, cell adhesion and T-cell regulation. The protein exhibits antimicrobial activity against bacteria and fungi. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2014]
View all LGALS3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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