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Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese.
- Source :
-
PloS one [PLoS One] 2011 May 06; Vol. 6 (5), pp. e19641. Date of Electronic Publication: 2011 May 06. - Publication Year :
- 2011
-
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 = 1.51×10(-8), 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 (FTCD_N domain) and is ubiquitously expressed in various tissues including bone. Our findings would give a new insight into osteoporosis etiology and pathogenesis.
- Subjects :
- Amino Acid Sequence
Base Sequence
Chromosome Mapping
Female
Gene Expression Profiling
Gene Expression Regulation
Genetic Testing
Genetics, Population
Genome-Wide Association Study
Haplotypes genetics
Humans
Hydroxymethyl and Formyl Transferases chemistry
Hydroxymethyl and Formyl Transferases metabolism
Japan
Linkage Disequilibrium genetics
Middle Aged
Proteins chemistry
Proteins metabolism
Asian People genetics
Chromosomes, Human, Pair 2 genetics
Genetic Predisposition to Disease
Hydroxymethyl and Formyl Transferases genetics
Osteoporosis genetics
Polymorphism, Single Nucleotide genetics
Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1932-6203
- Volume :
- 6
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- PloS one
- Publication Type :
- Academic Journal
- Accession number :
- 21573128
- Full Text :
- https://doi.org/10.1371/journal.pone.0019641