rs4684847

This is a intron variant variant in the PPARG gene.

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GWAS Catalog Trait Associations (11)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body fat percentage

Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele T
OR —
β 0.029
p 3.0e-37
N 442,278
Large GWAS
European

CMRF35-like molecule 9 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.07
p 2.0e-19
N 47,745
Large GWAS
European

appendicular lean mass

Hernandez Cordero AI et al. “Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2.” American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele T
OR 0.09
p 4.0e-19
N 181,862
Large GWAS
European

adipose amount

Ahmed A et al. “MRI-Based Genetic Studies Reveal Specific Genetic Variants and Disease Risks Associated With Fat Distribution Across Anatomical Sites.” Journal of Obesity 2025:7792701 (2025)
Allele T
OR 0.08
p 1.0e-13
N 37,589
Large GWAS
European

desmoglein-2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 9.0e-13
N 47,745
Large GWAS
European
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Research that mentions this SNP (1)

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Clinical relevance of peroxisome proliferator‐activated receptor‐γ gene polymorphisms with sepsis
AssociationN=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).

Traits studied:Multiple organ dysfunction syndromeOrgan dysfunctionSepsisSeptic shock
PubMedDOIMetascience Observatory

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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