rs117853493 (ATP6V1B2): Fatty Acid and Biomarker GWAS
Key takeaways
- Identified in two large UK Biobank GWAS studies with combined sample sizes up to 363,000 participants
- Studied in the context of 19 circulating fatty acid traits and 35 blood and urine biomarker measurements
- Both studies applied statistical fine-mapping to identify likely causal variants at associated loci
- Specific effect sizes for this individual variant are not reported in the available study excerpts
- Evidence is considered preliminary without per-variant replication data
Key takeaways
- Identified in two large UK Biobank genome-wide association studies with combined sample sizes up to 363,000 participants
- Studied in the context of 19 circulating fatty acid traits and 35 blood and urine biomarker measurements
- Both studies applied statistical fine-mapping to identify likely causal variants at associated loci
- Specific effect sizes for rs117853493 individually are not detailed in the available study excerpts
- Evidence is considered preliminary without per-variant replication data
What the research says Two large genome-wide association studies of UK Biobank participants form the evidence base for this variant. One examined 19 circulating fatty acid traits across up to 239,268 individuals of European ancestry and five additional ancestry groups, identifying 215 loci for polyunsaturated fatty acid (PUFA)-related traits, 163 loci for monounsaturated fatty acid (MUFA)-related traits, and 119 loci for saturated fatty acid (SFA)-related traits. A second study evaluated the genetic basis of 35 blood and urine laboratory measurements in 363,228 participants, identifying 1,857 associated loci and 3,374 fine-mapped associations, and developed polygenic risk scores for each biomarker.
Reported associations
- Circulating fatty acid traits: This variant is identified in the context of a GWAS of 19 circulating fatty acid traits, including PUFA-, MUFA-, and SFA-related measures, across UK Biobank participants from six ancestry groups
- Blood and urine biomarkers: This variant is identified in a study of 35 commonly measured clinical laboratory tests, including lipid, glycemic, kidney function, and liver function measurements, in UK Biobank participants (n=363,228)
Evidence quality The two supporting studies employed large UK Biobank samples (n=239,268 and n=363,228 respectively) and rigorous methods including Bonferroni correction (p < 5 x 10^-9 for genome-wide significance in the biomarker study), statistical fine-mapping to 3,374 associations, and multi-ancestry replication across six ancestry groups in the fatty acid study. However, the provided study excerpts do not include specific association statistics, odds ratios, or beta coefficients for rs117853493 specifically. Without these values, the independent contribution of this variant to the observed trait associations cannot be assessed from the available information. No per-variant replication across independent cohorts is described in the provided text, and the evidence for this specific variant should be treated as preliminary.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs117853493?
rs117853493 is a genetic variant located in or near the ATP6V1B2 gene. It has been studied in large genome-wide association studies examining circulating fatty acid levels and 35 blood and urine biomarker measurements in UK Biobank participants.
What traits is rs117853493 associated with?
This variant has been examined in studies of circulating polyunsaturated, monounsaturated, and saturated fatty acids, as well as 35 clinical laboratory measurements including lipids, glycemic markers, and kidney and liver function tests. Specific effect sizes for this individual variant are not detailed in the available study excerpts.
How large were the studies that identified rs117853493?
The supporting studies used UK Biobank cohorts of up to 239,268 European ancestry participants for the fatty acid analysis and up to 363,228 participants for the blood and urine biomarker analysis.
What gene is rs117853493 near?
rs117853493 is located near or within the ATP6V1B2 gene, as identified in the associated genome-wide association studies.
Is there lifestyle guidance linked to rs117853493?
The available study excerpts do not report specific lifestyle or dietary considerations for rs117853493. The supporting studies focused on identifying genetic loci and did not characterize gene-lifestyle interactions for this specific variant.