rs111560619 (SCARB1): Blood Biomarker Variant

Key takeaways

• rs111560619 is a variant in the SCARB1 gene, included in a genome-wide analysis of 35 blood and urine biomarkers across 363,228 UK Biobank participants.
• The broader study identified 1,857 associated loci and 3,374 fine-mapped variant associations across 35 clinical lab measurements, including lipids, glycemic traits, kidney function, and liver function.
• Results were validated in an independent Finnish dataset (FinnGen, n=135,500), lending support to cross-population relevance.
• Per-variant effect sizes and specific trait associations for rs111560619 are not stated in the available study excerpt.

What the research says Sinnott-Armstrong et al. (Nature Genetics, 2021) analyzed 363,228 UK Biobank participants for genetic associations with 35 blood and urine biomarkers, identifying 1,857 associated loci and 3,374 fine-mapped associations; the analysis included protein-altering, protein-truncating, HLA, and copy number variants alongside 9,444,561 imputed non-coding and synonymous variants with minor allele frequency above 0.1%. Biomarker categories covered included lipids, glycemic traits, kidney function tests, liver function tests, and other measurements, with effect sizes validated against 42 previously published cohorts. Polygenic risk scores derived from this study improved genetic risk stratification for chronic kidney disease, type 2 diabetes, gout, and alcoholic cirrhosis relative to single-disease scores in the FinnGen replication cohort (n=135,500).

Reported associations

• Blood and urine biomarkers: rs111560619 in the SCARB1 gene was examined as part of a 35-biomarker genome-wide association study in UK Biobank, covering lipid, glycemic, kidney function, and liver function measurements, with a Bonferroni-corrected significance threshold of p < 5x10-9. Specific trait associations and effect sizes for this variant are not detailed in the provided study text.

Evidence quality The source study involved 363,228 UK Biobank individuals and meta-analysis across five population groups (White British n=318,953; non-British White n=23,582; African n=6,019; South Asian n=7,338; East Asian n=1,082). LD Score regression intercepts ranged from 0.999 to 1.137 across all 35 phenotypes, indicating well-controlled population structure. Effect sizes were benchmarked against 42 previously published cohorts for 25 biomarkers, showing high agreement across lipid, glycemic, kidney, and liver trait categories. Independent replication was conducted in FinnGen (n=135,500). No per-variant statistics for rs111560619 are reported in the provided study excerpt, so evidence quality specifically for this variant cannot be fully evaluated from the available text.

Lifestyle considerations No lifestyle considerations on file for this variant.