A genome-wide association study of copy-number variation identifies putative loci associated with osteoarthritis in Koreans.
BMC Musculoskelet Disord
; 16: 76, 2015 Apr 04.
Article
em En
| MEDLINE
| ID: mdl-25880085
ABSTRACT
BACKGROUND:
OA is a complex disease caused by environmental and genetic risk factors. The purpose of this study is to identify candidate copy number variations (CNVs) associated with OA.METHODS:
We performed a genome-wide association study of CNV to identify potential loci that confer susceptibility to or protection from OA. CNV genotyping was conducted using NimbleGen HD2 3 × 720K comparative hybridization array and included samples from 371 OA patients and 467 healthy controls. The putative CNV regions identified were confirmed with a TaqMan assay.RESULTS:
We identified six genomic regions associated with OA encompassing CNV loci. None of six loci had previously been reported in genome-wide association studies with OA, although a genetic analysis suggested that they have functional effects. The protein product of a candidate risk gene for obesity, TNKS, targets Wnt inhibition, and this gene was significantly associated with hand and knee OA. Copy number deletion on TNKS was associated with a 1.37-fold decreased risk for OA. In addition, CA10, which shows a strong association with osteoporosis, was also significant in our study. Copy number deletion on this gene was associated with a 1.69-fold decreased risk for OA.CONCLUSION:
We identified several CNV loci that may contribute to OA susceptibility in Koreans. Further functional investigations of these genes are warranted to fully characterize their putative association.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteoartrite
/
Tanquirases
/
Estudo de Associação Genômica Ampla
/
Loci Gênicos
/
Variações do Número de Cópias de DNA
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
/
Middle aged
País/Região como assunto:
Asia
Idioma:
En
Revista:
BMC Musculoskelet Disord
Assunto da revista:
FISIOLOGIA
/
ORTOPEDIA
Ano de publicação:
2015
Tipo de documento:
Article