| Linkage of three polymorphisms on chromosome 20p12 to ossification of the posterior longitudinal ligament of spine and its severity in Han Chinese patients. | |
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MedLine Citation:
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PMID: 21034546 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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BACKGROUND: Ossification of the posterior longitudinal ligament (OPLL) is characterized by the replacement of ligamentous tissue with new ectopic bone formation, and has a strong genetic background. Because of the abnormal bone metabolic features and the strong genetic component, osteoporosis is a related disorder with OPLL. Three polymorphisms on chromosome 20p12 were identified associated with the risk of osteoporosis and osteoporotic fracture. The rs996544 (C/T) "TT" and rs965291 (G/A) "AA" genotypes conferred higher risks for vertebral and hip fractures. The osteoporosis haplotype is defined by two polymorphisms, rs1116867 (A) and D35548 (T). However, it remains unknown whether these three polymorphisms predispose to an increased frequency and severity of OPLL in Han Chinese patients. METHODS: A total of 420 OPLL patients and 506 age- and sex-matched controls were studied. Three single nucleotide polymorphisms (SNPs), rs996544 (C/T), rs965291 (G/A) and rs1116867 (A/G), were analyzed by direct sequencing. Associations between these SNPs with the occurrence and extent of OPLL were statistically evaluated. RESULTS: There was no significant association between the rs996544 (C/T) polymorphism and the prevalence of OPLL. The rs1116867 (A/G) polymorphism "AG" genotype was associated with the occurrence of OPLL. The rs1116867 (A/G) polymorphism "G" allele was associated with the occurrence of OPLL, but not with the extent of OPLL. The rs965291 (G/A) polymorphism in female patients was statistically different between cases and controls (P < 0.05). The rs965291 (G/A) polymorphism "A" allele was associated with the occurrence of OPLL in female patients. For the rs965291 (G/A) polymorphism, patients with the "A" allele (genotype, "AG" or "AA") showed a significantly greater number of ossified cervical vertebrae than those without the "A" allele (genotype, "GG", P < 0.05), particularly in female patients. CONCLUSIONS: The rs1116867 (A/G) and rs965291 (G/A) polymorphisms on chromosome 20p12 are associated with the occurrence and the extent of OPLL, at least in Han Chinese subjects. Our data should advance our understanding of the molecular etiology of OPLL and may guide approaches to prevent the onset of OPLL. |
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Authors:
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Liang Yan; Wei-guang Zhao; Jin-jun Li; Hui Yang; Hao Wang; Xin Lin |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Chinese medical journal Volume: 123 ISSN: 0366-6999 ISO Abbreviation: Chin. Med. J. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-11-01 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7513795 Medline TA: Chin Med J (Engl) Country: China |
Other Details:
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Languages: eng Pagination: 2341-6 Citation Subset: IM |
Affiliation:
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Department of Orthopaedics, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China. |
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