rs1501299

This systematic review analyzed 24 studies examining 31 genes and 62 genetic variants associated with anterior cruciate ligament rupture (ACLR). Key findings show mixed evidence for collagen variants: COL1A1 rs1800012 showed protective association in European ancestry populations (OR=2.8, p=0.040), while COL1A2 rs42524 and rs2621215 conferred increased risk (OR=5.73 and 4.29 respectively). VEGFA polymorphisms rs2010963 and rs699947 showed conflicting associations across studies, and most major variants in IL6, IL1B, MMP genes, and inflammatory markers showed no consistent associations with ACLR across populations, highlighting the need for gender and ancestry-stratified analyses.

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.

A case-control study of 237 Brazilian women with endometriosis found that the LEPR rs1137100 A>G polymorphism is significantly associated with increased risk of chronic pelvic pain (OR=1.75; 95% CI=1.05-2.89) and dyspareunia (OR=1.78; 95% CI=1.01-3.12). The LEP rs7799039 G>A polymorphism showed no significant association with endometriosis-related painful symptoms.

A case-control study of 277 Tunisian CAD patients and 269 controls examined the association of adiponectin gene polymorphisms +45T>G (rs2241766) and +276G>T (rs1501299) with coronary artery disease. No significant genotypic or allelic associations were found in unadjusted analysis; however, after adjusting for traditional CAD risk factors, the dominant model showed +45T>G associated with increased CAD risk (adjusted OR=2.59, P=.01) while +276G>T was associated with decreased risk (adjusted OR=0.47, P=.04). No significant haplotype associations with CAD were detected.

PhD dissertation examining genetic variants in collagen genes (COL22A1, COL27A1, COL11A1) and anterior cruciate ligament injury risk in Polish athletes. Paper 1 is a systematic review of genetic determinants of ACL rupture. Papers 2 and 3 are case-control association studies finding no significant associations between SNPs rs11784270/rs6577958 (COL22A1), rs946053 (COL27A1), and rs3753841 (COL11A1) and non-contact ACL injury risk in Polish athletes.

This comprehensive review examines the genetic background of nonalcoholic fatty liver disease (NAFLD), focusing on variants identified by genome-wide association studies (GWAS) and candidate gene studies. The most significant GWAS-identified variants are PNPLA3 rs738409 (I148M), which strongly associates with increased liver steatosis, fibrosis severity, and HCC risk (12-fold increased risk for homozygous carriers), and TM6SF2 rs58542926 (E167K), which increases NASH progression but reduces cardiovascular risk. The review also discusses numerous candidate genes involved in lipid and glucose metabolism and liver injury mechanisms.

This cross-sectional study of 1,025 young Korean adults (mean age 22.9 years) investigated two SNPs in the adiponectin gene (ACDC): rs2241766 (-45T>G) and rs1501299 (-276G>T). The TT genotype of rs2241766 was associated with higher BMI, waist circumference, systolic blood pressure, triacylglycerols, fasting insulin, and a clustered metabolic risk score (P=0.019). However, these genetic effects were modulated by cardiorespiratory fitness and insulin resistance, becoming non-significant when controlling for these lifestyle factors (P=0.097 and P=0.181, respectively).

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.

Comprehensive review of genetic background in nonalcoholic fatty liver disease (NAFLD). The PNPLA3 I148M variant (rs738409 C>G) is identified as a major genetic player strongly associated with increased liver fat content, NASH development, fibrosis severity, and HCC risk. The TM6SF2 E167K variant (rs58542926) emerges as another key contributor to NAFLD pathogenesis and disease progression. Multiple additional GWAS-identified variants and candidate genes are reviewed for their roles in NAFLD susceptibility and progression.

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.

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.

Nested case-control study of 258 prostate cancer cases and 258 matched controls in the CLUE II prospective cohort examining genetic variants in inflammation and obesity-related genes. The IL10 -1082G>A variant (rs1800896, A allele) was positively associated with prostate cancer risk (AG vs GG: OR=1.69, 95% CI 1.10-2.60; AA vs GG: OR=1.81, 95% CI 1.11-2.96), while a TLR4 variant (rs4986790) showed inverse association, and no consistent associations were found for obesity-related gene variants.

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 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.

This case-control study of 1,881 Scandinavian women (649 with gestational diabetes mellitus, 1,232 controls) found that the TCF7L2 rs7903146 variant confers increased risk of gestational diabetes mellitus, with heterozygotes showing OR=1.56 (95% CI 1.26-1.93, p=3.7×10⁻⁵) and homozygotes OR=2.05 (95% CI 1.41-2.99, p=0.0001). Four other polymorphisms previously associated with type 2 diabetes (ADIPOQ rs1501299, PPARG rs1801282, PPARGC1A rs8192678, FOXC2 -512C>T, ADRB3 rs4994) were not significantly associated with gestational diabetes mellitus in this population.

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.