Accumulation of rare variants in the XXXX ( @entity71313 ) gene in task-specific @entity3519 .

@entity1 @entity3520 @entity20818 @entity71313 @entity71315 @entity71314 @entity3519 @entity4334
@entity20818 and @entity3520 are examples of task-specific @entity3519 . Recently, the @entity71313 ( @entity71313 ) locus was suggested to be associated with @entity20818 and @entity3520 by a genome-wide association study. To test for the presence of causal variants, the entire coding region and exon-intron boundaries of @entity71313 were sequenced in DNA samples from 158 @entity20818 @entity1 which were collected at the University of Music, Drama, and Media (Hanover, Germany), and 72 @entity1 with @entity3520 which were recruited at the Academic Medical Centers in Amsterdam and Groningen, the Netherlands. The frequency of variants within @entity71313 was compared to publically available data at the exome variant server (EVS) from the NHLBI GO Exome Sequencing Project. We identified 11 single @entity4334 variants (SNVs) in the @entity1 including eight non-synonymous substitutions. All variants have previously been reported at EVS including two SNVs with a reported minor allele frequency <1  %. One rare missense variant, @entity71314 ( @entity71315 ), was significantly enriched in the group of @entity3520 @entity1 compared to European Americans in EVS database (p  =  0.0013). In @entity1 with @entity3520 , there was an overall enrichment for rare, protein-changing variants compared to controls (p  <  0.01). In conclusion, we did not detect any conclusive mutation in @entity71313 . However, we showed an association with @entity71314 in @entity1 with @entity3520 that contributed to an overall enrichment for rare, protein-changing variants in these @entity1 . Thus, our data provide further support for a role of @entity71313 variants in task-specific @entity3519 , especially @entity3520 .
