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Current Trends in Neurology   Volumes    Volume 8 
Abstract
Segmental copy number loss of the PCSK6 gene in sporadic amyotrophic lateral sclerosis
Hidenori Sato, Shigeki Arawaka, Manabu Wada, Toru Kawanami, Fumiaki Tanaka, Gen Sobue, Mitsuru Emi, Takeo Kato
Pages: 23 - 29
Number of pages: 7
Current Trends in Neurology
Volume 8 

Copyright © 2014 Research Trends. All rights reserved

ABSTRACT
 
Sporadic amyotrophic lateral sclerosis (SALS) is regarded as a multifactorial disease; both genetic and environmental factors may contribute to the pathogenesis of SALS. To identify a possible genetic change that confers risk for SALS, we conducted whole-genome screening of a copy-number variation (CNV) with a CNV beadchip and a high-density oligonucleotide tiling microarray, followed by real-time quantitative polymerase chain reaction (qPCR). In the 1.1- to 5.5- kb region within the gene encoding the proprotein convertase subtilisin/kexin type 6 (PCSK6) on the chromosome 15q26.3 subtelomere, we found a copy-number loss in a large proportion (8 of 11; 72%) of SALS patients. Subsequent tiling microarray validated the results and revealed the fine structure of segmental loss. qPCR analysis confirmed the copy-number loss in 13 out of 23 SALS patients, as compared with 7 out of 44 controls (p = 0.0015, Odds Ratio: 6.63, 95% CI: 1.89-25.72). The present study suggests that a segmental copy-number loss of the PCSK6 gene may play a role in the pathogenesis of SALS.
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