rs6567160

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.

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.

In a population-based cohort of 3,179 children, the study tested two weighted genetic risk scores based on 15 childhood and 97 adult BMI-associated SNPs, plus ten individual appetite/satiety SNPs, for association with eating behavior measures. The 97 SNP adult BMI risk score was nominally associated with lower satiety responsiveness (β: -0.007 SD, 95% CI -0.013, 0.000), while individual SNPs rs11030104 (BDNF) and rs10733682 (LMX1B) showed nominal associations with reduced satiety responsiveness (β: -0.057 to -0.087 SD). Overall, findings do not strongly support that BMI-associated SNPs influence eating behavior at this young age.

This doctoral thesis examines the role of physical activity, physical fitness, and exercise on immunometabolism during pregnancy across six studies in overweight/obese pregnant women. In the genetic analysis (n=81), neonatal birth weight was significantly greater in mothers carrying the CC genotype at rs6567160 and rs17782313 in the MC4R gene, though gestational weight gain was not influenced by maternal FTO or MC4R genotypes.

Genome-wide association study of 139 antipsychotic-naïve pediatric patients identified common variants near the MC4R gene (melanocortin 4 receptor) on chromosome 18 associated with severe antipsychotic drug-induced weight gain. The most significant SNPs (rs489693, rs646749, rs12970134) showed p-values ranging from 2.80E-07 to 3.26E-06 in the discovery cohort and replicated in three additional cohorts (n=73, 40, 92). Minor allele homozygotes of rs489693 exhibited significantly greater increases in body fat mass, triglycerides, leptin, insulin, and HOMA-IR.