rs4684846

This is a intron variant variant in the PPARG gene.

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Research that mentions this SNP (2)

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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
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Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese women
AssociationN=1,080Li GH et al.(2010)· Osteoporosis International

This case-control association study of 1,080 Chinese women examined 30 SNPs in five candidate genes (PPARG, CRTAP, TDGF1, PTHR1, FLNB) and rs7646054 in ARHGEF3 within chromosome 3p14-25 for associations with bone mineral density (BMD). Multiple SNPs and haplotypes in FLNB and CRTAP showed significant associations with BMD, with the strongest association between lumbar spine BMD and rs9828717 (p=0.005; OR=1.51). CRTAP haplotype G-C of rs4076086-rs7623768 showed protective effects on femoral neck BMD (p=0.003; OR=0.43) and total hip BMD (p=0.007; OR=0.44).

Traits studied:Bone mineral density (BMD)Femoral neck BMDLumbar spine BMDOsteoporosisTotal hip BMD
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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