rs11045338 (PDE3A): Blood Biomarker Variant
Key takeaways
- rs11045338 lies in the PDE3A (phosphodiesterase 3A) gene region, identified in a large genetics study of blood and urine biomarkers in 363,228 UK Biobank participants
- The study found 1,857 genetic loci associated with at least one of 35 measured biomarkers, with findings validated against 42 independent cohorts
- Common DNA variants explained 0.6% to 23.9% of trait heritability depending on the specific biomarker examined
- Variant-specific effect size and directly linked biomarker for rs11045338 are not detailed in the available study excerpts
Key takeaways
- rs11045338 lies in the PDE3A (phosphodiesterase 3A) gene region, identified within a large-scale genome-wide study of blood and urine biomarker genetics in 363,228 UK Biobank participants
- The parent study found 1,857 genetic loci associated with at least one of 35 measured biomarkers, containing 3,374 fine-mapped associations, validated against 42 independent cohorts
- Common DNA variants explained between 0.6% (Lipoprotein A) and 23.9% (IGF-1) of heritable variance depending on the specific biomarker
- Variant-specific effect size and directly linked biomarker for rs11045338 are not stated in the available study excerpts
What the research says A genome-wide association study (GWAS, a large scan of millions of genetic variants to find those linked to a measured trait) of 35 blood and urine laboratory measurements in 363,228 UK Biobank participants identified 1,857 associated chromosomal loci containing 3,374 fine-mapped variant-trait associations (statistically localized candidate causal variants within each region), with meta-analysis conducted across four ancestry groups totaling 355,891 individuals. Common single-nucleotide polymorphisms (SNPs, single-letter DNA variants) explained between 0.6% (Lipoprotein A) and 23.9% (IGF-1) of heritable variance across biomarkers via LD Score regression, and effect sizes showed high consistency when cross-validated against 42 previously published cohorts spanning lipids, glycemic traits, kidney function tests, and liver function tests. The study also identified 51 causal relationships through Mendelian Randomization analysis (a method that uses genetic variants as natural experiments to infer causation), including previously known effects of urate on gout and cystatin C on stroke.
Reported associations
- Blood and urine biomarkers (broad scope): rs11045338 in the PDE3A gene region falls within the scope of this biomarker GWAS (primary n=363,228; meta-analysis n=355,891); the specific biomarker(s) associated with this locus and the individual variant-level effect sizes are not reported in the available excerpts of the study text.
Evidence quality The study underpinning this entry is a large, well-controlled GWAS with primary analysis n=363,228 and multi-ancestry meta-analysis n=355,891 across four population groups. Population stratification is well-managed, as indicated by LD Score regression intercepts (a diagnostic statistic where values close to 1.0 indicate minimal confounding from differences in ancestry) between 0.999 and 1.137 across all 35 phenotypes. Significance thresholds were Bonferroni-corrected (a conservative penalty applied when testing a large number of variants simultaneously; meta-analysis p < 5 x 10^-9 for imputed SNP associations). Findings were cross-validated in 42 external cohorts with high agreement, and multi-biomarker polygenic risk scores derived from the study improved risk stratification for chronic kidney disease, type 2 diabetes, gout, and alcoholic cirrhosis in an independent replication dataset (FinnGen, n=135,500). However, the provided text does not include variant-level results for rs11045338 specifically, so the association direction, effect size, and directly linked biomarker cannot be characterized from the available source material.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs11045338?
rs11045338 is a genetic variant located in or near the PDE3A (phosphodiesterase 3A) gene. It falls within the scope of a large genome-wide association study that examined the genetics of 35 blood and urine laboratory biomarkers in 363,228 UK Biobank participants.
Which blood test is rs11045338 linked to?
The available study excerpts do not specify which of the 35 measured blood or urine biomarkers rs11045338 is directly associated with. The parent study identified 1,857 loci across these biomarkers, and the PDE3A region is among those implicated.
How large was the study behind rs11045338 findings?
The study analyzed 363,228 UK Biobank participants in its primary analysis, with a multi-ancestry meta-analysis covering 355,891 people across White British, non-British White, African, and South Asian groups.
How reliable are the findings from this study?
Effect sizes were compared against 42 previously published cohorts and showed high agreement. Statistical significance was assessed using Bonferroni correction, a conservative threshold for large-scale genetic analyses, with a required p-value below 5 x 10^-9 for imputed variants.
Are there lifestyle recommendations based on rs11045338?
No lifestyle-specific findings are on file for rs11045338 from the available study.