rs312470
This is a regulatory region variant variant in the ALOX12 gene.
▶ClinVar annotation
not provided; Familial cancer of breast; Hepatocellular carcinoma
View on ClinVar →▶Research that mentions this SNP (1)
▶Polymorphisms in the human ALOX12 and ALOX15 genes are associated with peak bone mineral density in Chinese nuclear familiesAssociationN=1,260Xiao WJ et al.(2012)· Osteoporosis International
This family-based association study genotyped 10 SNPs in ALOX12 and ALOX15 genes in 1,260 individuals from 401 Chinese nuclear families and tested their association with peak bone mineral density (BMD) using the quantitative transmission disequilibrium test (QTDT). rs916055 in ALOX15 was significantly associated with lumbar spine BMD (p=0.027) and rs312470 in ALOX12 was significantly associated with femoral neck BMD (p=0.029-0.036), with additional associations for rs2292350 in ALOX12 at multiple sites. The results suggest that genetic polymorphisms in ALOX12 and ALOX15 contribute to variations in peak BMD in Chinese women.
About ALOX12
This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]
View all ALOX12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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