rs2972164

This is a intron variant variant in the PPARG gene.

▶

GWAS Catalog Trait Associations (2)

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

▶

Research that mentions this SNP (2)

▶
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
▶
No association between polymorphisms of proliferator-activated receptor-gamma gene and peak bone mineral density variation in Chinese nuclear families
AssociationN=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).

Traits studied:Body mass indexBone mineral density at femoral neckBone mineral density at lumbar spinePeak bone mineral density
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…