rs17366568

This is a coding sequence variant variant in the ADIPOQ gene.

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GWAS Catalog Trait Associations (2)

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

adiponectin measurement

Spracklen CN et al. “Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.” American Journal of Human Genetics 105(1):15-28 (2019)
Allele A
OR 0.22
p 5.0e-149
N 67,739
Large GWAS
multi-ancestry
Sarsani V et al. “A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin.” Hgg Advances 5(1):100252 (2024)
Allele A
OR 0.17
p 8.0e-99
N 46,434
Meta-analysisLarge GWAS
multi-ancestry
Heid IM et al. “Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals.” Atherosclerosis 208(2):412-20 (2010)
Allele A
OR 0.13
p 1.0e-41
N 4,659
Large GWAS
European

kininogen-1 measurement

Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 0.38
p 4.0e-30
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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Research that mentions this SNP (2)

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Relationship between ADIPOQ gene, circulating high molecular weight adiponectin and albuminuria in individuals with normal kidney function: evidence from a family-based study
AssociationN=634Menzaghi C. et al.(2011)· Diabetologia

Family-based study of 634 non-diabetic individuals examining the ADIPOQ gene and albuminuria. rs17300539 in the ADIPOQ promoter was significantly associated with albumin-creatinine ratio (ACR, p=0.0027) and explained 4% of variance, and with HMW adiponectin levels (β=0.26, p=4.8×10⁻⁵). Variance component analysis showed ACR heritability of h²=0.20 and positive genetic correlation with HMW adiponectin (ρg=0.38, p=0.04), suggesting ADIPOQ variants modulate albuminuria levels.

Traits studied:Albuminuria (albumin-creatinine ratio)HMW adiponectin levels
PubMedDOIMetascience Observatory
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The association of SNPs in ADIPOQ, ADIPOR1, and ADIPOR2 with insulin sensitivity in a cohort of adolescents and their parents
AssociationN=703Laura J. Rasmussen-Torvik et al.(2009)· Human Genetics

This case-control association study examined 41 tag and candidate SNPs in the adiponectin (ADIPOQ) and its receptor genes (ADIPOR1, ADIPOR2) in relation to insulin sensitivity measured by euglycemic clamp in 584 white and 119 African American adolescents and their parents (n=703 total). One SNP in ADIPOQ (rs822393, p=0.0034) reached corrected significance threshold in whites and accounted for 1.9% of variance in insulin sensitivity; four additional ADIPOQ SNPs (rs4632532, rs266729, rs182052, rs7649121) showed suggestive associations (p<0.05). Two SNPs in ADIPOR1 showed suggestive associations in African Americans. The results suggest genetic variants in adiponectin pathway genes influence insulin sensitivity, with age potentially modifying the effect.

Traits studied:Insulin resistanceInsulin sensitivityObesity
PubMedDOIMetascience Observatory

About ADIPOQ

This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]

View all ADIPOQ variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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