rs1143643

A case-control study of 594 osteoporosis patients and 599 controls in northwestern Chinese Han population examined seven IL-1B variants. The AA genotype of rs2853550 was protective against osteoporosis (OR=0.11, p=0.038), while rs16944 (OR=1.19–1.42) and rs1143623 (OR=1.21–1.43) increased osteoporosis risk. The haplotype Grs1143630Ars1143627Grs16944 was associated with increased risk (OR=1.20, p=0.032), and a four-locus SNP-SNP interaction model (rs1143643, rs3136558, rs1143630, rs1143623) showed the best prediction accuracy.

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 association study of 197 PTSD patients and 150 healthy controls in the Armenian population found that IL1B rs1143633 and rs16944 polymorphisms are protective against PTSD susceptibility. The rs1143633*C allele and rs16944*A allele had significantly lower frequencies in PTSD patients compared to controls (24% vs 39.7% and 21% vs 42%, respectively; OR=0.49 and OR=0.37). These findings suggest IL-1β genetic variants may modulate PTSD risk through effects on inflammatory response.

This study examined whether the effect of vitamin E supplementation on cytokine production in elderly nursing home residents depends on baseline cytokine levels. Among 110 elderly participants in a 1-year randomized controlled trial, the authors genotyped 7 SNPs in cytokine genes (IL-1β, IL-6, TNFα, IFNγ) and measured ex vivo cytokine production at baseline and follow-up. They found significant interactions between vitamin E treatment and baseline cytokine production for IFNγ (P=0.002-0.005), TNFα (P=0.009), IL-1β (P=0.053), and IL-6 (P=0.031), suggesting that vitamin E's immunomodulatory effects depend on individual baseline immune status.

This prospective study of 316 HIV-positive adults identified genetic associations between inflammatory gene polymorphisms and Restless Legs Syndrome (RLS). Four IL1B SNPs (rs1143643, rs1143634, rs1143633, rs1071676) were significantly associated with RLS, with carriers of the minor allele having increased likelihood of RLS diagnosis (OR 2.56-10.3), explaining 15-17% of variance. IL17A rs8193036 was also significantly associated (OR 2.20, explaining 16% of variance) in adjusted logistic regression models.