Expressive

rs116985487 (SRGN - VPS26A): Blood Biomarker Variant

Key takeaways

  • This variant is in the SRGN - VPS26A genomic region and was found in a study of 35 blood and urine laboratory test results.
  • The study included 363,228 UK Biobank participants, one of the largest genetic biomarker studies of its kind.
  • Over 1,800 genomic loci were associated with at least one clinical biomarker in this study.
  • The specific biomarker this variant most strongly affects is not detailed in the available study excerpt.

Key takeaways

  • This variant maps to the SRGN - VPS26A genomic region and was identified in a large-scale study of blood and urine laboratory measurements.
  • The study used 363,228 UK Biobank participants, one of the largest genetic studies of clinical biomarkers conducted to date.
  • The variant falls within a set of over 1,800 genomic loci associated with at least one blood or urine biomarker in this study.
  • The specific biomarker association for this variant is not detailed in the available excerpt of the source study.

What the research says A genome-wide association study (GWAS - a method that scans hundreds of thousands of genetic positions across the genome to find statistical links to measurable traits) of 35 blood and urine biomarkers in the UK Biobank identified 1,857 loci, including 3,374 fine-mapped associations, in a sample of 363,228 unrelated individuals across five population groups (meta-analysis n=355,891). The study performed fine-mapping - a statistical technique to narrow down which specific variant within a region is most likely driving the association - and identified large-effect protein-altering, HLA (human leukocyte antigen, genes involved in immune recognition), and copy-number variant associations across the studied biomarkers. No specific effect size, p-value, or named biomarker association for rs116985487 is provided in the available text from this study.

Reported associations

  • Blood or urine biomarker (unspecified): This variant falls within a region identified in a GWAS of 35 clinical laboratory measurements in the UK Biobank (n=363,228); the specific biomarker most strongly associated with this locus is not named in the provided study excerpt.

Evidence quality The source study used a large discovery sample of 363,228 UK Biobank participants and an independent replication dataset from FinnGen (n=135,500 Finnish individuals). Stringent Bonferroni-corrected significance thresholds were applied (meta-analysis p < 5 times 10 to the power of negative 9 for assayed and imputed variants, with separate thresholds for copy-number variants and HLA alleles). Linkage disequilibrium Score regression intercepts ranged from 0.999 to 1.137 across all 35 biomarkers, consistent with well-controlled population structure and minimal confounding from ancestry differences. Common SNP heritability for the studied biomarkers ranged from 0.6% to 23.9% using LD Score regression, indicating that the genetic basis of these traits is real but often modest. The specific p-value, effect size, and biomarker identity for rs116985487 are not included in the provided study excerpt, which limits a full evidence quality assessment for this particular variant.

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • glycated hemoglobin (HbA1c) level Moderate

    Genetic variant associated with higher HbA1c levels in large population study

    Baseline HbA1c test and annual monitoring; consider earlier screening if family diabetes history

Frequently asked questions

What is rs116985487?

rs116985487 is a genetic variant located in the SRGN - VPS26A genomic region. It was identified in a large genome-wide association study of blood and urine biomarkers conducted in over 363,000 UK Biobank participants.

What genes are near rs116985487?

This variant is located near two genes: SRGN and VPS26A. The specific roles these genes play in relation to the variant's observed effects on blood or urine biomarkers are not described in the available study text.

How large was the study that identified rs116985487?

The discovery study analyzed data from 363,228 UK Biobank participants. Findings were evaluated in an independent dataset of 135,500 individuals from the FinnGen study based in Finland.

Is rs116985487 linked to any diseases?

The source study focused on blood and urine laboratory measurements rather than disease diagnoses directly. The researchers used biomarker associations to improve genetic risk prediction for conditions including chronic kidney disease, type 2 diabetes, gout, and alcoholic cirrhosis, though specific disease links for this variant are not stated in the provided text.

What is a genome-wide association study and how does it find variants like rs116985487?

A genome-wide association study, or GWAS, scans hundreds of thousands of genetic positions across the genome and compares them statistically to measured traits such as blood test results. It identifies which genetic variants correspond to higher or lower levels of those traits across a large population, flagging positions like rs116985487 for further study.