rs1805192
This is a variant in the PPARG gene that changes a proline to an alanine.
▶ClinVar annotation
▶Research that mentions this SNP (2)
▶Common variants in FLNB/CRTAP, not ARHGEF3 at 3p, are associated with osteoporosis in southern Chinese womenAssociationN=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).
▶The –786C/T single‐nucleotide polymorphism in the promoter of the gene for endothelial nitric oxide synthase: Insensitivity to physiologic stimuli as a risk factor for rheumatoid arthritisAssociationN=219Inga Melchers et al.(2006)· Arthritis & Rheumatism
This journal issue contains multiple genetic association studies on rheumatoid arthritis (RA). A key REMARCA study (146 aCCP+ RA patients vs 314 controls) identified polymorphisms in CTLA4 (rs231775 +49A/G), IL10 (rs1800872 -592A/C), and IL6R (rs8192284 +358A/C) associated with high inflammatory disease activity, with CTLA4 and IL10 minor alleles showing increased risk (OR=1.4, p=0.02 and OR=1.9, p<0.0001 respectively) and IL6R minor allele being protective (OR=0.7, p=0.03). A separate study analyzed NOS3, PPARG, PPARGC1A, PPARGC1B and PAI1 polymorphisms in 73 RA patients for cardiovascular risk.
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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