rs117993921 (RALGDS): UK Biobank Biomarker GWAS
Key takeaways
- rs117993921 is a variant in the RALGDS gene identified in a genome-wide study of blood and urine biomarkers.
- The study examined 35 clinical laboratory measurements in 363,228 UK Biobank participants.
- Across all 35 biomarkers, 1,857 associated genetic regions and 3,374 fine-mapped associations were found.
- The specific biomarker association and effect size for this variant are not described in the available study excerpt.
Key takeaways
- rs117993921 is a variant in the RALGDS gene, identified within a large genome-wide study of blood and urine biomarkers.
- The study scanned 35 clinical laboratory measurements in 363,228 UK Biobank participants, identifying 1,857 associated genetic regions containing 3,374 fine-mapped associations.
- Heritability explained by common genetic variants ranged from 0.6% (lipoprotein A) to 23.9% (IGF-1) across the 35 biomarkers studied.
- The specific biomarker that this variant affects, and its effect size, are not described in the available study excerpt.
What the research says A genome-wide association study (GWAS) of 35 blood and urine clinical measurements in 363,228 unrelated UK Biobank participants identified 1,857 associated loci containing 3,374 fine-mapped associations, among which a variant in the RALGDS gene was catalogued. The analysis spanned 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) and applied a Bonferroni-corrected significance threshold of p < 5 x 10^-9 for imputed variants. The particular biomarker associated with rs117993921 and its effect size are not stated in the available study excerpt.
Reported associations
- Blood or urine biomarker (not specified in available excerpt): The variant is listed among loci identified in this 35-biomarker GWAS of 363,228 UK Biobank participants. The specific laboratory measurement it is linked to, and the direction and magnitude of the effect, are not described in the provided study text.
Evidence quality The source study is a large-scale GWAS with 363,228 unrelated participants, using a stringent Bonferroni-corrected threshold of p < 5 x 10^-9 for imputed variants (MAF, or minor allele frequency, > 0.1%; INFO imputation quality score > 0.3) to limit false positives when testing millions of variants simultaneously. Fine-mapping (the statistical process of pinpointing the most likely causal variant within each associated region) across 1,857 loci yielded 3,374 refined associations. LD Score regression (a method estimating the proportion of trait variance explained by common genetic variants) showed heritability ranging from 0.6% to 23.9% across the 35 biomarkers; a complementary method called HESS (Heritability Estimator from Summary Statistics) yielded estimates of 3.2% to 57%. LD Score intercepts between 0.999 and 1.137 across all 35 phenotypes confirm adequate control for population stratification (the potential confounding influence of ancestral background on variant-trait associations). The specific p-value, effect size, and replication status for rs117993921 are not available in the provided study excerpt, limiting variant-level interpretation.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs117993921?
rs117993921 is a single nucleotide polymorphism (SNP), meaning a single-letter change in DNA, located in the RALGDS gene. It was identified in a large genome-wide association study of blood and urine biomarkers in UK Biobank.
Which biomarker is rs117993921 linked to?
The source study examined 35 blood and urine laboratory measurements in 363,228 UK Biobank participants. The specific biomarker associated with rs117993921 is not described in the available study excerpt.
How was rs117993921 discovered?
It was identified in a genome-wide association study that applied a stringent significance threshold (Bonferroni-corrected p < 5 x 10^-9) and fine-mapping across 1,857 associated genomic regions in over 363,000 people.
Is there lifestyle advice connected to rs117993921?
No lifestyle considerations specific to rs117993921 are recorded in the available study data. The research focused on identifying genetic associations with clinical laboratory measurements.
How reliable is the evidence for rs117993921?
The source study is a large, well-powered GWAS with over 363,000 participants and stringent significance thresholds. The specific replication status and effect size for this variant are not available in the provided study excerpt.