rs12636454
This is a intron variant variant in the PPARG 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.
▶Research that mentions this SNP (1)
▶No association between polymorphisms of proliferator-activated receptor-gamma gene and peak bone mineral density variation in Chinese nuclear familiesAssociationN=1,111Yue H. et al.(2010)· Osteoporosis International
This study tested association between 10 tagging SNPs in PPARG (peroxisome proliferator-activated receptor-gamma) and peak bone mineral density (BMD) in 401 Chinese nuclear families using quantitative transmission disequilibrium test (QTDT), plus 710 postmenopausal women. The study found no significant association between PPARG polymorphisms and BMD at the lumbar spine or femoral neck in the family-based analysis, though rs1801282 showed association with BMD at lumbar spine in postmenopausal women (P=0.013).
About PPARG
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
View all PPARG variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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