rs4684847
This is a intron variant variant in the PPARG gene.
▶GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (11)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
▶Research that mentions this SNP (1)
▶Clinical relevance of peroxisome proliferator‐activated receptor‐γ gene polymorphisms with sepsisAssociationN=606Yu Liu et al.(2018)· Journal of Clinical Laboratory Analysis
This case-control association study examined 13 PPAR-γ gene SNPs in 303 sepsis patients and 303 controls from North China Han population. Three SNPs showed significant associations: rs1801282 (Pro12Ala) with decreased sepsis risk (OR=0.55, p=0.024), rs2972164 with increased sepsis risk (OR=1.74, p=0.03), and rs4135275 with increased severe organ dysfunction (OR=2.66, p=0.038). The TAT haplotype (rs2972164-rs4684846-rs17036188) was associated with increased sepsis risk (OR=1.66, p=0.038).
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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