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Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis.

著者 van Rheenen W , Shatunov A , Dekker AM , McLaughlin RL , Diekstra FP , Pulit SL , van der Spek RA , Võsa U , de Jong S , Robinson MR , Yang J , Fogh I , van Doormaal PT , Tazelaar GH , Koppers M , Blokhuis AM , Sproviero W , Jones AR , Kenna KP , van Eijk
Nat Genet.2016 Jul 25 ; ():.
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To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced patients with ALS and matched controls (n = 1,861). Through imputation and mixed-model association analysis in 12,577 cases and 23,475 controls, combined with 2,579 cases and 2,767 controls in an independent replication cohort, we fine-mapped a new risk locus on chromosome 21 and identified C21orf2 as a gene associated with ALS risk. In addition, we identified MOBP and SCFD1 as new associated risk loci. We established evidence of ALS being a complex genetic trait with a polygenic architecture. Furthermore, we estimated the SNP-based heritability at 8.5%, with a distinct and important role for low-frequency variants (frequency 1-10%). This study motivates the interrogation of larger samples with full genome coverage to identify rare causal variants that underpin ALS risk.
PMID: 27455348 [PubMed - as supplied by publisher]
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