rs11054402 (LINC01252 / ETV6): GWAS Locus
Key takeaways
- Three large-scale GWAS studies covering up to 628,000 individuals form the evidence base for this variant.
- rs11054402 maps to the LINC01252 and ETV6 genomic region.
- Studies covered CRP inflammation markers plus hundreds of diseases and biomarkers across multiple ancestries.
- Variant-specific association data for rs11054402 are not explicitly reported in the available study text.
Key takeaways
- Three large-scale genome-wide association studies (GWASs) covering up to 628,000 individuals across multiple ancestries form the evidence base for this variant.
- rs11054402 maps to the LINC01252 and ETV6 genomic region.
- Studies surveyed C-reactive protein (CRP), a marker of systemic inflammation, plus hundreds of diseases and biomarkers across diverse populations.
- Variant-specific association statistics for rs11054402 are not explicitly reported in the available study text excerpts, and specific associations should be treated as unconfirmed.
What the research says A GWAS of CRP levels, a blood marker of systemic inflammation, in 575,531 European-ancestry participants from the UK Biobank and CHARGE consortium identified 266 independent genetic loci, 211 of them previously unreported, with these loci collectively explaining 16.3% of CRP variance; Mendelian randomization analyses from the same study, which uses genetic variants as proxies to test causal relationships, supported causal links between genetically elevated CRP and schizophrenia, chronic airway obstruction, and prostate cancer. A cross-population atlas of 220 human phenotypes in BioBank Japan (n = 179,000), with meta-analyses including the UK Biobank and FinnGen (combined n = 628,000), identified approximately 5,000 new genetic loci across diseases, biomarkers, and medication usage. A third study applied a new GWAS algorithm to 79 quantitative and 50 binary traits in 405,088 UK Biobank individuals, finding 4.97% more associations than the leading prior method (REGENIE) for quantitative traits and 3.25% more for binary traits; none of the three study excerpts explicitly report association statistics for rs11054402 or the LINC01252 / ETV6 locus by name.
Reported associations
- C-reactive protein (CRP) levels: A GWAS in 575,531 European-ancestry participants identified 266 loci associated with CRP levels, explaining 16.3% of variance; whether rs11054402 is among these 266 loci cannot be confirmed from the provided study text.
- Multiple complex traits and diseases (up to 220 phenotypes): A cross-population atlas identified approximately 5,000 new genetic loci in up to 628,000 individuals; whether rs11054402 is among these cannot be confirmed from the provided study text.
Evidence quality The three provided studies are large-scale and rigorous, using genome-wide significance thresholds (p < 5 x 10-8) and sample sizes ranging from approximately 179,000 to over 575,000 individuals across multiple ancestries. No variant-specific statistics, such as odds ratios, beta coefficients, or p-values, for rs11054402 are reported in the provided text excerpts. Replication status and effect size for this variant cannot be assessed from the available material. The CRP GWAS identified 42 gene sets associated with CRP levels and showed strong enrichment of CRP-related gene expression in liver and whole blood tissues, but whether rs11054402 falls within these enriched gene sets is not stated. The evidence for any specific trait association of rs11054402 must be treated as preliminary and unconfirmed based solely on the provided study text.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What genes are associated with rs11054402?
rs11054402 is annotated to the LINC01252 and ETV6 genomic region. These gene symbols identify the chromosomal neighborhood where this variant is located.
What conditions has rs11054402 been studied in connection with?
The provided research covers large-scale studies of C-reactive protein levels and an atlas of 220 phenotypes including diseases and biomarkers. Specific confirmed associations for rs11054402 are not named in the available study excerpts.
How large were the studies providing context for this variant?
The studies included samples of up to 628,000 individuals from BioBank Japan, the UK Biobank, and FinnGen, spanning multiple ancestries and hundreds of traits including diseases, biomarkers, and medication usage.
What is C-reactive protein (CRP) and why is it studied genetically?
C-reactive protein is a blood marker of systemic inflammation produced mainly by the liver. Genetic studies of CRP aim to reveal causal pathways linking chronic low-grade inflammation to diseases including schizophrenia, chronic airway obstruction, and prostate cancer.
Why is it useful to study genetic variants in large biobanks?
Large biobanks like the UK Biobank, BioBank Japan, and FinnGen allow genetic studies to detect smaller associations with greater statistical confidence. The studies providing context for this variant analyzed up to 628,000 individuals, enabling the discovery of thousands of new genetic loci across hundreds of traits.