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- Title
Common Variants in a Novel Gene, FONG on Chromosome 2q33.1 Confer Risk of Osteoporosis in Japanese.
- Authors
Kou, Ikuyo; Takahashi, Atsushi; Urano, Tomohiko; Fukui, Naoshi; Ito, Hideki; Ozaki, Kouichi; Tanaka, Toshihiro; Hosoi, Takayuki; Shiraki, Masataka; Inoue, Satoshi; Nakamura, Yusuke; Kamatani, Naoyuki; Kubo, Michiaki; Mori, Seijiro; Ikegawa, Shiro
- Abstract
Osteoporosis is a common disease characterized by low bone mass, decreased bone quality and increased predisposition to fracture. Genetic factors have been implicated in its etiology; however, the specific genes related to susceptibility to osteoporosis are not entirely known. To detect susceptibility genes for osteoporosis, we conducted a genome-wide association study in Japanese using ∼270,000 SNPs in 1,747 subjects (190 cases and 1,557 controls) followed by multiple levels of replication of the association using a total of ∼5,000 subjects (2,092 cases and 3,114 controls). Through these staged association studies followed by resequencing and linkage disequilibrium mapping, we identified a single nucleotide polymorphism (SNP), rs7605378 associated with osteoporosis. (combined P= 1.5161028, odds ratio = 1.25). This SNP is in a previously unknown gene on chromosome 2q33.1, FONG. FONG is predicted to encode a 147 amino-acid protein with a formiminotransferase domain in its N-terminal (FTCDN domain) and is ubiquitously expressed in various tissues including bone. Our findings would give a new insight into osteoporosis etiology and pathogenesis.
- Subjects
OSTEOPOROSIS; VITAMIN D deficiency; TISSUES; GENETICS; BONE diseases
- Publication
PLoS ONE, 2011, Vol 6, Issue 5, p1
- ISSN
1932-6203
- Publication type
Article
- DOI
10.1371/journal.pone.0019641