rs10799599 - PLA2G2E - RN7SL304P

Magnitude 2.0 · 2 studies on file

Reported associations

• A fully joint Bayesian quantitative trait locus mapping of human protein abundance in plasma - PLoS computational biology (2020) · Ruffieux H, Carayol J, Popescu R, Harper ME, Dent R, Saris WHM, Astrup A, Hager J, Davison AC, Valsesia A · PubMed 32492067

  ABSTRACT: Molecular quantitative trait locus (QTL) analyses are increasingly popular to explore the genetic architecture of complex traits, but existing studies do not leverage shared regulatory patterns and suffer from a large multiplicity burden, which hampers the detection of weak signals such as trans associations. Here, we present a fully multivariate proteomic QTL (pQTL) analysis performed with our recently proposed Bayesian method LOCUS on data from two clinical cohorts, with plasma protein levels quantified by mass-spectrometry and aptamer-based assays. Our two-stage study identifies 136 pQTL associations in the first cohort, of which >80% replicate in the second independent cohort and have significant enrichment with functional genomic elements and disease risk loci. Moreover, 78%

• Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma. - Leukemia (2017) · da Silva Filho MI, Försti A, Weinhold N, Meziane I, Campo C, Huhn S, Nickel J, Hoffmann P, Nöthen MM, Jöckel KH, Landi S, Mitchell JS, Johnson D, Morgan GJ, Houlston R, Goldschmidt H, Jauch A, Milani P, Merlini G, Rowcieno D, Hawkins P, Hegenbart U, Palladini G, Wechalekar A, Schönland SO, Hemminki K · PubMed 28025584

  Immunoglobulin light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibers derived from immunoglobulin light chain. AL amyloidosis and multiple myeloma (MM) originate from monoclonal gammopathy of undetermined significance. We wanted to characterize germline susceptibility to AL amyloidosis using a genome-wide association study (GWAS) on 1229 AL amyloidosis patients from Germany, UK and Italy, and 7526 healthy local controls. For comparison with MM, recent GWAS data on 3790 cases were used. For AL amyloidosis, single nucleotide polymorphisms (SNPs) at 10 loci showed evidence of an association at P<10 with homogeneity of results from the 3 sample sets; some of these were previously documented to influence MM risk, including the SNP at the IRF4 binding site. In AL am

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