rs266729

This variant is located in the ADIPOQ gene.

Research that mentions this SNP (8)

Genetic variation of FTO: rs1421085 T>C, rs8057044 G>A, rs9939609 T>A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight
ReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Traits studied:AdiposityBlood pressureBody mass index (BMI)Cardiovascular risk factorsDyslipidemiaInsulin resistanceMetabolic syndromeObesityOverweightType 2 diabetes
COX2 and NOS3 gene polymorphisms in women with gestational diabetes
ReviewMaciej Tarnowski et al.(2017)· The Journal of Gene Medicine

This comprehensive review synthesizes literature on gestational diabetes mellitus (GDM), demonstrating its complex multifactorial etiology involving genetic factors (SNPs in GCKR, KCNQ1, MTNR1B, TCF7L2), epigenetic modifications (DNA methylation and microRNA expression), and alterations in microbial composition across multiple body sites. While certain SNP variants are associated with GDM phenotypes globally, genetic predisposition alone does not explain disease development; lifestyle factors can modify epigenetic signatures and microbiota composition to modulate risk. Evidence indicates genes, epigenetic alterations, and microbiota can transfer from mother to offspring with long-term health consequences.

Traits studied:Cardiovascular diseaseFetal macrosomiaGestational diabetes mellitusHyperglycemiaHyperlipidemiaHypoglycemiaImpaired insulin secretionInflammatory conditionsInsulin resistanceMetabolic syndromeObesityPreeclampsiaType 2 diabetes
Association of the glucokinase gene promoter polymorphism -30G > A (rs1799884) with gestational diabetes mellitus susceptibility: a case–control study and meta-analysis
Meta-analysisN=11,494Xueling Han et al.(2015)· Archives of Gynecology and Obstetrics

This study examined the association between the GCK -30G>A polymorphism (rs1799884) and gestational diabetes mellitus (GDM) susceptibility through a case-control study of 948 GDM cases and 975 controls in a Chinese population, followed by meta-analysis of 6 studies (2,959 cases, 8,535 controls). The A-allele was significantly associated with increased GDM risk in the case-control study (OR=1.41, 95% CI 1.16-1.71) and remained significantly associated in the meta-analysis overall (OR=1.28, 95% CI 1.17-1.39, P<0.001), with stronger effects in Asian populations (OR=1.37) compared to Caucasians (OR=1.24).

Traits studied:gestational diabetes mellitusobesitytype 2 diabetes
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
Associations between single-nucleotide polymorphisms (+45T&gt;G, +276G&gt;T, −11377C&gt;G, −11391G&gt;A) of adiponectin gene and type 2 diabetes mellitus: a systematic review and meta-analysis
Meta-analysisN=94,835Han LY et al.(2011)· Diabetologia

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.

Traits studied:Type 2 diabetes mellitus
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
Variants of the Adiponectin (&lt;emph type="ital"&gt;ADIPOQ&lt;/emph&gt;) and Adiponectin Receptor 1 (&lt;emph type="ital"&gt;ADIPOR1&lt;/emph&gt;) Genes and Colorectal Cancer Risk
AssociationN=1,297Kaklamani VG et al.(2008)· JAMA

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.

Traits studied:Colorectal cancer
Association between variants in the genes for adiponectin and its receptors with insulin resistance syndrome (IRS)-related phenotypes in Mexican Americans
AssociationN=439Richardson DK et al.(2006)· Diabetologia

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.

Traits studied:Body mass indexFasting HDL cholesterolFasting insulinFasting leptinFasting plasma glucoseFasting triglyceridesHOMA-S (insulin sensitivity)HOMA-β (β-cell function)Insulin resistance syndromeSum of skin fold thicknessType 2 diabetesWaist circumference

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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