rs114019667 (KBTBD8): CVD Risk Variant in Metabolic Disease

Key takeaways

• Located near the KBTBD8 gene and the RPL21P41 pseudogene on the human genome
• Identified within a genome-wide association study of cardiovascular disease risk in Korean adults with pre-existing metabolic disease
• The study analyzed 42,393 Korean urban adults from the KoGES_HEXA cohort, spanning hypertension, diabetes, and dyslipidemia subgroups
• Evidence is preliminary and derived from a single East Asian cohort; independent replication for this specific variant is not described in the available sources
• No lifestyle, drug response, or tissue expression data for this variant are documented in the provided studies

What the research says A genome-wide association study (a method that scans millions of DNA variants simultaneously to find statistical links to disease) in 42,393 Korean urban adults with hypertension, diabetes mellitus, or dyslipidemia (abnormal blood lipid levels) examined 7,975,321 imputed single nucleotide polymorphisms - individual single-letter DNA differences - to find variants linked to cardiovascular outcomes. Participants were drawn from the Korean Genome and Epidemiology Study Health Examinee cohort (KoGES_HEXA), a population-based prospective study, and outcomes included coronary artery disease (CAD), ischemic stroke (IS), and combined cardio-cerebrovascular disease (CCD) within each metabolic disease subgroup. The variant rs114019667 in the RPL21P41-KBTBD8 region was examined within this framework; specific statistical outputs (odds ratio, confidence interval, or p-value) for this locus are not detailed in the available study excerpt.

Reported associations

• Cardiovascular disease (in metabolic disease context): rs114019667, in the RPL21P41-KBTBD8 region, was studied in a GWAS examining coronary artery disease, ischemic stroke, and combined cardio-cerebrovascular disease in Korean adults with hypertension, diabetes, or dyslipidemia; specific effect size and significance values for this variant are not reported in the provided text

Evidence quality The evidence base for this variant consists of a single GWAS (Song et al., 2021, Journal of Translational Medicine) in 42,393 Korean urban adults from the KoGES_HEXA cohort. The study applied genome-wide significance thresholds, controlled for confounding variables using logistic regression, and used the Phase 3 Asian panel from the 1000 Genomes Project for SNP imputation - a step that improves variant-calling accuracy in East Asian ancestries. However, the study's primary reported findings highlight six other loci (in chromosomal regions 17q25.3, 4q32.3, 9q22.2, 3p22.1, and 2p22.2); specific p-values and odds ratios for rs114019667 are absent from the available text. No independent replication of this specific variant is described in the provided sources. The evidence should therefore be considered preliminary and not yet sufficient to draw firm conclusions about risk.

Lifestyle considerations No lifestyle considerations on file for this variant.