rs2241766

This is a Turkish-language personalized nutrigenetics and epigenetics coaching report for individual Mehmet Efe Yildirim (Report No. 1332, dated 2023-11-21). The report analyzes the individual's genetic polymorphisms related to nutritional metabolism, food sensitivities, detoxification pathways, and other health-related traits, providing personalized dietary and lifestyle recommendations based on cited scientific literature. This is a direct-to-consumer genetic test report, not a peer-reviewed research study.

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 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.

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.

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 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.

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).

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.

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.

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.