rs16861194

This is a upstream gene variant variant in the ADIPOQ gene.

Research that mentions this SNP (5)

Implications of critical PPARγ2, ADIPOQ and FTO gene polymorphisms in type 2 diabetes and obesity-mediated susceptibility to type 2 diabetes in an Indian population
AssociationN=1,036Nagaraja M. Phani et al.(2016)· Molecular Genetics and Genomics

Case-control study of 518 type 2 diabetes cases and 518 controls in a Karnataka (Indian) population examined the association of three SNPs with T2D susceptibility and obesity. PPAR-γ2 rs1801282 and FTO rs9939609 were significantly associated with T2D in the overall sample (OR=1.42, P=0.02 and OR=1.19, P=0.01 respectively), with effects primarily observed in the obese diabetic subgroup. ADIPOQ rs16861194 showed no significant association (OR=1.08, P=0.39). A meta-analysis of 22 studies on PPAR-γ2 and FTO variants in Asian populations confirmed FTO's significant risk association with T2D.

Traits studied:Body mass indexObesityType 2 diabetes
Associations of polymorphisms in the genes of FGFR2, FGF1, and RBFOX2 with breast cancer risk by estrogen/progesterone receptor status
AssociationN=2,416Yu‐Ling Cen et al.(2013)· Molecular Carcinogenesis

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Traits studied:Breast cancerBreast cancer riskER+/PR+ breast cancerER/PR negative breast cancerTriple negative breast cancer
Genetic polymorphisms in obesity‐related genes and endometrial cancer risk
AssociationN=2,960Xiaoli Chen et al.(2012)· Cancer

This case-control study of 1,028 endometrial cancer cases and 1,932 controls from Shanghai evaluated 87 SNPs in five obesity-related genes (ADIPOQ, ADIPOR1, ADIPOR2, LEP, LEPR). Three ADIPOQ SNPs (rs3774262 OR=0.68, rs1063539 OR=0.66, rs12629945) and one LEP SNP (rs2071045 OR=0.70) were significantly associated with reduced endometrial cancer risk. The ADIPOQ variants were also associated with lower body weight, waist circumference, and BMI in controls, suggesting a potential mechanism through obesity.

Traits studied:Body mass indexEndometrial cancerHip circumferenceObesityWaist circumference
ADIPOQ gene polymorphism rs1501299 interacts with fibre intake to affect adiponectin concentration in children: the GENe–Diet Attica Investigation on childhood obesity
AssociationN=991Ioanna Ntalla et al.(2009)· European Journal of Nutrition

Cross-sectional study of 991 Greek children examining interactions between ADIPOQ gene polymorphisms (rs1501299 and rs17300539) and dietary fiber intake on serum adiponectin levels. The rs1501299 GG vs GT+TT polymorphism showed significant interaction with fiber intake (P=0.028): GG homozygotes had significantly higher adiponectin levels compared to T allele carriers under low fiber intake conditions (5.1±2.7 vs 4.2±2.3 μg/mL, P=0.020).

Traits studied:Adiponectin concentrationChildhood obesityInsulin resistanceObesity
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

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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