rs17300539

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.

This meta-analysis of 33 studies examined associations between four adiponectin gene (ADIPOQ) polymorphisms and type 2 diabetes. While +45T>G (rs2241766), +276G>T (rs1501299), and -11391G>A (rs17300539) showed no significant associations, the G vs C allele of -11377C>G (rs266729) was associated with increased type 2 diabetes risk (pooled OR 1.07, 95% CI 1.03-1.11, p=0.001). The association with rs266729 was stronger in population-based case-control studies and in white populations.

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).

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.

This case-control study examined 10 haplotype-tagging SNPs in the ADIPOQ and ADIPOR1 genes across 1,297 individuals (441-199 cases, 658-199 controls) to determine association with colorectal cancer risk. The ADIPOQ SNP rs266729 was consistently associated with decreased colorectal cancer risk in both study cohorts (AOR=0.72-0.52, 95% CI 0.34-0.95) and in combined analysis (AOR=0.73, 95% CI 0.53-0.99). Additionally, rs822395 and rs822396 showed associations in the first study, and rs1342387 in ADIPOR1 showed an association in study 1 only. The findings suggest the adiponectin pathway may modify colorectal cancer risk.

Candidate gene association study in 439 Mexican Americans examining variants in ADIPOQ, ADIPOR1, and ADIPOR2 genes and insulin resistance syndrome traits. ADIPOQ variants (rs4632532, rs266729) were associated with BMI, fasting insulin, and skinfold thickness. ADIPOR1 rs7539542 was associated with BMI and waist circumference. Notably, 14 ADIPOR2 SNPs were associated with fasting triglycerides, with rs10848569, rs929434, rs3809266, and rs12342 showing strongest associations (p<0.0004) and demonstrating that rs929434 explains 47% of previously detected linkage signal.