Document Detail

Association of the formiminotransferase N-terminal sub-domain containing gene and thrombospondin, type 1, domain-containing 7A gene with the prevalence of vertebral fracture in 2427 consecutive autopsy cases.
MedLine Citation:
PMID:  23303384     Owner:  NLM     Status:  MEDLINE    
We previously reported 2 osteoporosis-susceptibility genes--formiminotransferase N-terminal sub-domain containing gene (FONG) and thrombospondin, type 1, domain-containing 7A (THSD7A)--in which we identified two common single-nucleotide polymorphisms, rs7605378 (FONG) and rs12673692 (THSD7A). The former was associated with a predisposition to osteoporosis and the latter with bone mineral density. To further elucidate the importance of these polymorphisms in the pathogenesis of osteoporosis, we examined their association with the incidence of vertebral fracture. DNA extracted from the renal cortex of 2427 consecutive Japanese autopsies (1331 men, mean age: 79 years; 1096 women, mean age: 82 years) were examined in this study. The presence or absence of vertebral fracture during each subject's lifetime was determined by a thorough examination of the clinical records, as well as autopsy reports. After adjustments for sex and age at autopsy, logistic regression analysis revealed that homozygotes for the risk alleles of rs7605378 (A-allele) or rs12673629 (A-allele) possess an increased risk of vertebral fracture. The subjects simultaneously homozygous for both the risk alleles of rs7605378 (AA genotype) and rs12673629 (AA genotype) showed significantly higher risk of vertebral fracture (odds ratio 2.401, 95% confidence interval 1.305-4.416, P = 0.0048) than those who had at least one non-risk allele of either rs7605378 (AC/CC genotypes) or rs12673629 (AG/GG genotypes). The results suggest that Japanese subjects homozygous for the risk alleles of rs7605378 and rs12673629 have a higher risk of vertebral fracture.
Heying Zhou; Seijiro Mori; Ikuyo Kou; Noriyuki Fuku; Makiko Naka Mieno; Naoko Honma; Tomio Arai; Motoji Sawabe; Masashi Tanaka; Shiro Ikegawa; Hideki Ito
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-10
Journal Detail:
Title:  Journal of human genetics     Volume:  58     ISSN:  1435-232X     ISO Abbreviation:  J. Hum. Genet.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-02-25     Completed Date:  2013-06-11     Revised Date:  2013-07-22    
Medline Journal Info:
Nlm Unique ID:  9808008     Medline TA:  J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  109-12     Citation Subset:  IM    
Center for Promotion of Clinical Investigation, Tokyo Metropolitan Geriatric Hospital, Tokyo, Japan.
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MeSH Terms
Aged, 80 and over
Glutamate Formimidoyltransferase / chemistry,  genetics*
Hydroxymethyl and Formyl Transferases / genetics*
Spinal Fractures / genetics*
Thrombospondins / genetics*
Reg. No./Substance:
0/Thrombospondins; 0/thrombospondin type I domain containing 7A protein, human; EC 2.1.2.-/FONG protein, human; EC 2.1.2.-/Hydroxymethyl and Formyl Transferases; EC Formimidoyltransferase

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