title: Segmental copy number loss in the region of Semaphorin 4D gene in patients with acetabular dysplasia.
abstract: 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 Semaphorin 4D (Sema4D; 18/64 vs. 0/32, p = 4.81 × 10(-4) , OR = 25.86). We suggest that a copy number loss of the Sema4D gene region may play a role in the etiology of AD.
authors: Division of Orthopedic Surgery, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine, University of Miyazaki, 5200 Kihara, Kiyotake, Miyazaki 889-1692, Japan. sekkin@med.miyazaki-u.ac.jp
authors: Tomohisa
authors: T
authors: Sekimoto
authors: Miho
authors: M
authors: Ishii
authors: Mitsuru
authors: M
authors: Emi
authors: Syuji
authors: S
authors: Kurogi
authors: Taro
authors: T
authors: Funamoto
authors: Hiroaki
authors: H
authors: Hamada
authors: Etsuo
authors: E
authors: Chosa
mesh_terms: D000077:Acetabulum / Q000002:abnormalities*; D000293:Adolescent; D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D005260:Female; D018628:Gene Dosage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D039961:Semaphorins / Q000235:genetics*; D055815:Young Adult
chemical_list: D015703:Antigens, CD; C093224:CD100 antigen; D039961:Semaphorins