rs1137100

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.

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.

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).

Genetic association study of cancer cachexia identified 129 SNPs in 80 candidate genes in 775 cancer patients. The C allele of rs6136 in the SELP gene (encoding P-selectin) was significantly associated with reduced risk of cancer cachexia (weight loss >10%) in both the main study (OR 0.52; p=0.026) and validation cohort (OR 0.09; p=0.035). Multiple other genes including APEH, GHRL, TNFRSF1A, and CNR1 showed significant associations with cachexia-related traits.

This case-control and family-based study evaluated 64 SNPs in 34 genes for associations with spina bifida in 558 Irish case-families and 994 controls. Spina bifida was significantly associated with LEPR rs1805134 (GRR: 1.5, P = 0.0264) and COMT rs737865 (GRR: 1.4, P = 0.0206), with additional confirmations of previous findings in MTHFR 677C>T and other genes, suggesting roles for leptin signaling and methylation pathways in neural tube defect pathogenesis.

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 study examined associations between three leptin/leptin receptor polymorphisms and obesity in Pacific Islander populations. Among 745 Austronesian-speaking participants, the LEPR Q223R (rs1137101) variant showed significant association with higher body weight (P=0.0009), BMI (P=0.0022), and increased obesity risk (OR=1.84, 95% CI 1.04-2.92, P=0.0222), while LEP G-2548A and LEPR K109R showed no association with obesity.

Case-control study of 1,567 colon cancer cases and 1,965 controls examining leptin (LEP) and leptin receptor (LEPR) genetic variants. The AA genotype of LEP rs2167270 was associated with reduced colon cancer risk (OR 0.79, 95% CI 0.64-0.98). Significant gene-gene and gene-lifestyle interactions were observed with aspirin/NSAID use, insulin pathway genes (IGF1, IRS2), and vitamin D receptor (VDR) polymorphisms, suggesting mechanisms independent of energy balance.