Segmental copy number loss in the region of Semaphorin 4D gene in patients with acetabular dysplasia. Issue 6 (17th January 2013)

• Record Type: Journal Article
• Authors: Sekimoto, Tomohisa; Ishii, Miho; Emi, Mitsuru; Kurogi, Syuji; Funamoto, Taro; Hamada, Hiroaki; Chosa, Etsuo
• Is Part Of: Journal of orthopaedic research. Volume 31:Issue 6(2013:Jun.)
• Page Start: 957
• Page End: 961
• Publication Date: 2013-01-17
• Subjects: Orthopedics -- Periodicals; Musculoskeletal system -- Periodicals; 616.7
• DOI: 10.1002/jor.22310
• Languages: English
• ISSNs: 0736-0266

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <p>Acetabular dysplasia (AD) appears to be a multi‐factorial disease, which may involve both genetic and environmental factors and whose pathogenesis remains obscure. The present study aims to identify a genetic variation that might confer risk of AD. We performed whole‐genome screening of a copy number variation (CNV) using a deCODE‐Illumina CNV beadchip with 20 female AD patients and 131 control subjects. Subsequently, Agilent's region‐targeted high‐density oligonucleotide tiling microarray was used to analyze 64 female AD patients and 32 female control subjects. By sequential analyses, we found a copy number loss in 18 of 64 AD patients, but none in the 32 controls. The loss occurred within a 472 kb region on 9q22.2, which harbors the gene for <italic>Semaphorin 4D</italic> (<italic>Sema4D</italic>; 18/64 vs. 0/32, <italic>p</italic> = 4.81 × 10⁻⁴, OR = 25.86). We suggest that a copy number loss of the <italic>Sema4D</italic> gene region may play a role in the etiology of AD. © 2013 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 31: 957–961, 2013</p> </abstract>