rs11196534 (NHLRC2): Korean GWAS Variant

Key takeaways

• rs11196534 is located in the NHLRC2 (NHL repeat-containing protein 2) gene region and was identified in a large Korean genome-wide association study.
• The discovery cohort included 153,950 Korean adults from the KCPS2 Biobank, making it one of the largest single-population genetic studies of its kind.
• The study examined 36 quantitative traits spanning metabolic biomarkers, liver and kidney function, blood cell counts, cardiovascular measurements, and lifestyle factors.
• A multi-biobank meta-analysis combining Korean, Japanese, Taiwanese, and British cohorts identified 4,588 additional loci not significant in any single contributing study.
• The specific trait association and effect size for this variant are not detailed in the available published study text.

What the research says A genome-wide association study (GWAS, a method that scans millions of genetic markers across the genome to find variants statistically linked to measurable traits) of 153,950 Korean participants in the KCPS2 Biobank identified 301 previously unreported genetic loci across 36 quantitative traits, with rs11196534 in the NHLRC2 region among the reported findings. Meta-analysis with the Korean Genome and Epidemiology Study, Biobank Japan, Taiwan Biobank, and UK Biobank extended discovery to 4,588 loci not reaching significance in any individual cohort. SNP-based heritability (the share of trait variation explained by common genetic variants) across the 36 studied traits ranged from 0.034 for alcohol intake to 0.347 for height.

Reported associations

• Quantitative traits (Korean GWAS): This locus was identified in a GWAS covering anthropometric, metabolic, hepatic, renal, hematological, cardiovascular, and lifestyle traits in 153,950 Korean adults (KCPS2 Biobank, 2025); the specific trait and effect size for this variant are not detailed in the available study text.

Evidence quality The source study included 153,950 Korean participants genotyped on two platforms (GSA-chip, n=64,812; Korean-chip, n=89,138), with imputation using the 1000 Genomes Project Phase 3 reference panel. Association testing used SAIGE, a linear mixed model that accounts for population structure and sample relatedness. No meaningful test statistic inflation was observed (median lambda-GC 1.23, S-LDSC intercept 1.04), supporting the validity of the reported associations. Because more than 90% of historical GWAS participants have been of European ancestry, findings from this East Asian cohort represent a meaningful expansion of diverse-ancestry genetic research. Replication status and variant-level p-values for this locus specifically cannot be assessed from the available study text, and the evidence should be considered preliminary pending independent replication.

Lifestyle considerations No lifestyle considerations on file for this variant.