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- Title
Gender-specific haplotype association of collagen α2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.
- Authors
Maeda, S.; Koga, H.; Matsunaga, S.; Numasawa, T.; Ikari, K.; Furushima, K.; Harata, S.; Takeda, J.; Sakou, T.; Komiya, S.; Inoue, I.
- Abstract
Abstract Among Japanese, ossification of the posterior longitudinal ligament of the spine (OPLL) is a leading cause of myelopathy, showing ectopic bone formation in the paravertebral ligament. We have provided genetic evidence that the collagen alpha2 (XI) (COLllA2) locus of chromosome 6 constitutes susceptibility for OPLL. Five distinct single nucleotide polymorphisms (SNPs), identified in COLllA2, were combined to construct possible haplotypes by the use of a maximum likelihood program. Estimated haplotype frequency was compared in OPLL patients and non-OPLL controls. We report a gender-specific association of the COLllA2 haplotype with OPLL. The frequency of the most commonly observed haplotype was significantly higher in male patients (P = 0.0003) compared with controls, but not in female patients (P = 0.21). OPLL is predominantly observed in males, with a prevalence ratio of 2:1, and our gender-specific associations indicate that genetic factors involving COLllA2 play...
- Subjects
POSTERIOR longitudinal ligament ossification; GENETIC polymorphisms; HUMAN genetics
- Publication
Journal of Human Genetics, 2001, Vol 46, Issue 1, p1
- ISSN
1434-5161
- Publication type
Article
- DOI
10.1007/s100380170117