Expressive

rs11685108 (LTBP1): East Asian GWAS variant

Key takeaways

  • rs11685108 is at the LTBP1 locus and was found through large GWAS studies in East Asian populations
  • Combined evidence spans over 600,000 participants across Korean, Japanese, and European cohorts
  • The Korean-cohort study examined 36 distinct quantitative traits in 153,950 individuals and found 301 previously unreported loci
  • East Asian populations make up 59 percent of humanity but only 4 percent of historical GWAS samples, making these studies crucial for understanding this variant

Key takeaways

  • rs11685108 is a variant at the LTBP1 locus, identified through large-scale genome-wide association studies in East Asian populations
  • Combined evidence spans over 600,000 participants across Korean, Japanese, and European cohorts
  • The Korean-cohort study alone examined 36 distinct quantitative traits in 153,950 individuals, identifying 301 previously unreported loci
  • East Asian populations represent 59 percent of humanity but only 4 percent of historical GWAS samples, making these studies especially important for variants at this locus

What the research says A genome-wide association study of the Korean Cancer Prevention Study-II (KCPS2) Biobank examined 36 quantitative traits in 153,950 individuals and discovered 301 previously unreported genetic loci, spanning anthropometric, metabolic, liver function, kidney, hematological, cardiovascular, and lifestyle measures. A cross-population atlas in BioBank Japan (n=179,000), meta-analyzed with UK Biobank and FinnGen (combined n exceeding 628,000), assessed 220 phenotypes and identified approximately 5,000 new associations. Both studies document that over 90 percent of global GWAS participants have been of European ancestry, with Asian populations representing only 4 percent despite comprising 59 percent of the global population.

Reported associations

  • Multi-trait quantitative phenotypes (Korean cohort): rs11685108 was examined in the context of a 36-trait GWAS in 153,950 Korean individuals; this study identified 301 previously unreported loci across anthropometric, metabolic, liver enzyme, thyroid, kidney, hematological, cardiovascular, and lifestyle traits; variant-level association results for this specific locus are available in the full study results tables
  • Broad phenome across populations: This variant was examined within a 220-phenotype cross-population GWAS (combined n exceeding 628,000); approximately 5,000 new loci were identified across diseases, biomarkers, and medication usage phenotypes in that effort

Evidence quality Both studies are large, well-powered GWAS efforts. The KCPS2 Biobank study used linear mixed models to control for population stratification, reporting a median lambda-GC (a test-statistic inflation metric where values near 1.0 signal minimal artifact) of 1.23 and a median S-LDSC intercept (a second inflation check based on linkage disequilibrium score regression) of 1.04 across the 36 traits, suggesting results are not substantially biased by population structure. SNP-based heritability estimates across the 36 traits ranged from 0.034 for alcohol intake to 0.347 for height, illustrating the breadth of phenotypes examined. The cross-population meta-analysis (n exceeding 628,000) adds replication power across ancestries. Specific p-values, effect sizes (odds ratios or beta coefficients), or replication statistics for rs11685108 as an individual variant are not reproduced in the available study excerpts; the full publications should be consulted for variant-level association results.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What gene is rs11685108 associated with?

rs11685108 is associated with the LTBP1 (Latent TGF-beta Binding Protein 1) gene. It was identified through large-scale genome-wide association studies in East Asian populations.

What populations was rs11685108 studied in?

This variant was examined primarily in East Asian populations, including Korean (n=153,950) and Japanese (n=179,000) cohorts, as well as cross-population meta-analyses incorporating UK Biobank and FinnGen participants for a combined total exceeding 628,000.

How large were the studies that identified rs11685108?

The primary Korean study involved 153,950 individuals, the BioBank Japan study involved 179,000 individuals, and the largest cross-population analysis combined over 628,000 participants.

What traits were examined in the studies covering rs11685108?

The source studies examined a broad range of quantitative traits including anthropometric measures, metabolic biomarkers, liver function enzymes, kidney function, hematological traits, cardiovascular measures, and lifestyle factors, plus over 200 disease and biomarker phenotypes in the cross-population analysis.

Why are East Asian GWAS studies important for variants like rs11685108?

Over 90 percent of GWAS participants have historically been of European ancestry, even though Asian populations make up 59 percent of the global population. Studies in Korean and Japanese cohorts identify variants and associations that European-focused research may miss entirely.