rs12045323 - DRAXIN

Magnitude 4.5 · 1 study on file

Reported associations

• Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD. - European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology (2018) · Guo W, Samuels JF, Wang Y, Cao H, Ritter M, Nestadt PS, Krasnow J, Greenberg BD, Fyer AJ, McCracken JT, Geller DA, Murphy DL, Knowles JA, Grados MA, Riddle MA, Rasmussen SA, McLaughlin NC, Nurmi EL, Askland KD, Cullen BA, Piacentini J, Pauls DL, Bienvenu OJ, Stewart SE, Goes FS, Maher B, Pulver AE, Valle D, Mattheisen M, Qian J, Nestadt G, Shugart YY · PubMed 28641744

  Obsessive-compulsive disorder (OCD) and Autism spectrum disorder (ASD) are both highly heritable neurodevelopmental disorders that conceivably share genetic risk factors. However, the underlying genetic determinants remain largely unknown. In this work, the authors describe a combined genome-wide association study (GWAS) of ASD and OCD. The OCD dataset includes 2998 individuals in nuclear families. The ASD dataset includes 6898 individuals in case-parents trios. GWAS summary statistics were examined for potential enrichment of functional variants associated with gene expression levels in brain regions. The top ranked SNP is rs4785741 (chromosome 16) with P value=6.9×10 in our re-analysis. Polygenic risk score analyses were conducted to investigate the genetic relationship within and acros

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