rs115302564 - CCDC85A

Magnitude 4.5 · 1 study on file

Reported associations

• Genetic variants in canonical Wnt signaling pathway associated with pediatric immune thrombocytopenia. - Blood advances (2024) · Kim TO, Geris JM, Flanagan JM, Grace RF, Lambert MP, O'Farrell C, Rose MJ, Shimano KA, Niss O, Neunert C, Nakano TA, MacMath D, Dinu B, Kirk SE, Neufeld EJ, Despotovic JM, Scheurer ME, Grimes AB · PubMed 39189922

  Through the use of genetic sequencing, molecular variants driving autoimmunity are increasingly identified in patients with chronic and refractory immune cytopenias. With the goal of discovering genetic variants that predispose to pediatric immune thrombocytopenia (ITP) or increase risk for chronic disease, we conducted a genome-wide association study in a large multi-institutional cohort of pediatric patients with ITP. A total of 591 patients were genotyped using an Illumina Global Screening Array BeadChip. Six variants met genome-wide significance in comparison between children with ITP and a cohort of healthy children. One variant in NAV2 was inversely associated with ITP (adjusted odds ratio [aOR], 0.52; P = 3.2 × 10-11). Two other variants in close proximity to NKD1 were also inve

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