rs3093058

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.

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

Case-control study in a Chinese population (1,046 cases, 1,035 controls) examining six CRP gene SNPs and endometrial cancer risk. While CRP SNPs alone were not significantly associated with endometrial cancer, rs1130864 and rs2794520 were found to significantly modify the association between central obesity (WHR and waist circumference) and endometrial cancer risk, with stronger effects in premenopausal women (p<0.001 for WHR).

Fine-mapping study of C-reactive protein (CRP) regulation in 594 African Americans using dense SNP genotyping and Bayesian model selection. Found rs3091244(T) allele as the key functional variant regulating CRP expression with additive effects (Bayes factor >100), explaining 5.20% of CRP variance with β=0.312 (95% CI 0.146-0.491). Secondary analysis supported a two-SNP model including rs12728740, which segregated with European-origin haplotypes. The study demonstrates that weaker linkage disequilibrium in African Americans resolved genetic ambiguity seen in European populations.

This study re-sequenced ~1,000 chromosomes of the CRP gene across diverse populations (European-American, African-American, Asian, Mexican, and Indo-Pakistani) to catalog both common and rare genetic variation. The authors identified 40 SNPs total, including three with rsIDs (rs3091244, rs1800947, rs3093058), and discovered novel nonsynonymous variants such as Pro133Lys (site 2513), Tyr67His (site 2314), and Gly166Glu (site 2612). When the novel nonsynonymous variants were genotyped in 7,296 individuals from NHANES III, they were found to be extremely rare, with minor allele frequencies below 1%, suggesting that while deep re-sequencing identifies potentially damaging coding variants, most occur at frequencies too low to study in large population surveys.