Polygenic analysis of schizophrenia and 19 immune diseases reveals modest pleiotropy
作者： Jennie G Pouget , Buhm Han , Yang Wu , Emmanuel Mignot , Hanna M Ollila
DOI: 10.1101/068684
关键词: Genome-wide association study 、 Immunology 、 Genetics 、 Population 、 Pleiotropy 、 Primary biliary cirrhosis 、 Schizophrenia 、 Single-nucleotide polymorphism 、 Human leukocyte antigen 、 Disease 、 Biology
摘要: Epidemiological studies have revealed that schizophrenia and autoimmune diseases co-occur in the general population at higher than expected rates. Here, we evaluated whether epidemiologic correlation between immune might be explained by shared genetic risk factors. We first association of 581 variants previously reported to associated with 19 different genome-wide significance a recent study (GWAS) (N=35,476 cases 46,839 controls). identified nine pleiotropic effects, both autoimmunity. Five these were located outside HLA region, mapped genes known roles calcium signaling. then polygenic scores for diseases, which take into account collective effects all SNPs (p<1 disease interest), predicted schizophrenia. Among 14 available summary statistics, narcolepsy (liability-scale R2=0.02%, p=4.1x10-4), primary biliary cirrhosis (R2=0.04%, p=1.4x10-8), psoriasis (R2=0.02%, p=3.6x10-5), systemic lupus erythematosus p=2.2x10-8), type 1 diabetes (R2=0.03%, p=2.0x10-6), ulcerative colitis p=4.3x10-4) significantly also observed suggestive evidence sex-dependent pleiotropy multiple sclerosis (interaction p=0.02), greater among males but not females. Our findings reveal presence modest several some may sex-dependent.
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