Copy number variation analysis of the 17q21.31 region and its role in XXXX .

@entity1 @entity56120 @entity303 @entity191 @entity1832 @entity179 @entity7463 @entity528
UNASSIGNED: The H1 haplotype of the 17q21.31 inversion polymorphism has been consistently associated with @entity7463 , @entity528 , and @entity191 in Caucasians. Recently, large polymorphic segmental duplications resulting into complex rearrangements at this locus with a high diversity range in @entity1 populations have been revealed. We sought to explore whether the two multi-allelic copy number variants that are present in the H1 clade (with segmental duplications of 300 and 218   kilobases in length) could be responsible for the known H1-related risk of developing these @entity179 . A total of 857 Spanish subjects including 330 @entity1 with @entity191 , 96 with @entity7463 , 55 with @entity528 , 51 @entity303 with @entity1832 , and 325 neurologically healthy controls, were genotyped for the @entity56120 haplotype. Subsequently, the two copy number variants that are characteristic of the H1 haplotype were evaluated through a high-resolution approach based on droplet digital polymerase chain reaction, in all H1 homozygous subjects. The H1 allele was significantly overrepresented in all diagnostic groups compared with controls ( @entity191 , P   =   0.0001; @entity7463 , P   =   1.22   *   10(-6) ; @entity528 , P   =   0.0002; and @entity303 with @entity1832 , P   =   0.032). However, no dosage differences were found for any of the two copy number variants analyzed. The H1 haplotype is associated with the risk of several @entity179 , including @entity303 with @entity1832 . However, common structural diversity within the 17q21.31-H1 clade does not explain this genetic association.    2015 Wiley Periodicals, Inc.
