rs1862513

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 epigenome-wide association study (EWAS) in 192 elderly Japanese men identified DNA methylation site cg02346997 in the RETN promoter region as significantly associated with plasma resistin level (p=6.02×10⁻¹⁰). The study found that RETN SNPs rs34861192 and rs3219175 were negatively associated with methylation at cg02346997 (p=4.43×10⁻¹⁷), suggesting these promoter SNPs influence circulating resistin through effects on DNA methylation and RETN mRNA abundance.

This genome-wide association study identified two SNPs (rs3745367 and rs1423096) in the RETN gene associated with circulating resistin levels in Han Chinese hypertensive subjects. Using Mendelian randomization in an independent cohort (CVDFACTS), rs1423096 was significantly associated with metabolic syndrome risk (OR=2.21, p=0.0034) and type 2 diabetes mellitus (OR=1.62, p=0.0063), providing evidence that resistin causally contributes to T2DM development.

A retrospective case-control study investigating immunogenetic factors in pulmonary tuberculosis (TBP) conducted in Cantabria, Spain with 318 TBP patients, 218 latently infected (ITL) individuals, and 524 healthy controls. Multiple HLA alleles and immune-related genetic polymorphisms were analyzed for association with TB susceptibility. Key findings include HLA-B07, B08, B14, B44 as protective factors against active disease; the IL-17 -152G allele (rs2275913) and GG genotype significantly more frequent in TBP patients (OR 1.40-1.59, p<0.02); TLR1 1805G polymorphism (rs5743618) associated with TB susceptibility; and KIR gene frequency variations between study groups.

In an aged Japanese cohort of 3,133 participants from the KING study, plasma resistin concentration was significantly associated with two RETN polymorphisms: rs34861192 (the most prominent, explaining 35.9% of variance) and rs3745368. These variants independently determined resistin levels and resistin levels were associated with metabolic traits including dyslipidemia, insulin concentration, and obesity.

This is a letter to the editor commenting on a study of resistin gene SNPs in an aged Japanese population. The authors argue that rs1862513 (SNP-420C>G) should still be considered a promising causal variant for determining plasma resistin levels, despite statistical analyses suggesting rs34861192 (SNP-638G>A) as the stronger determinant. The authors note that functional data supports rs1862513's role through transcription factor binding, and that population-specific allele frequencies and linkage disequilibrium limitations make it difficult to distinguish the causal variant from association statistics alone.

This study examined four non-coding SNPs in the resistin gene (RETN) for association with Type 2 diabetes and related traits in a Finnish cohort of 781 diabetes cases and 409 controls. While the SNPs showed no significant association with Type 2 diabetes itself, the common CCG haplotype (rs1862513-rs3219177-rs3745367) was associated with increased weight, waist circumference, and diastolic blood pressure in cases, lower insulin sensitivity in spouse controls, and rs3745368 was associated with lower HDL cholesterol. The findings provide evidence that resistin gene variants are related to obesity and insulin resistance phenotypes.