title: Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine.
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) (COL11A2) locus of chromosome 6 constitutes susceptibility for OPLL. Five distinct single nucleotide polymorphisms (SNPs), identified in COL11A2, 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 COL11AA2 haplotvpe 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 COL11A2 play a specific role in the etiology of OPLL exclusively in males.
authors: Department of Orthopedic Surgery, Faculty of Medicine, Kagoshima University, Japan.
authors: S
authors: S
authors: Maeda
authors: H
authors: H
authors: Koga
authors: S
authors: S
authors: Matsunaga
authors: T
authors: T
authors: Numasawa
authors: K
authors: K
authors: Ikari
authors: K
authors: K
authors: Furushima
authors: S
authors: S
authors: Harata
authors: J
authors: J
authors: Takeda
authors: T
authors: T
authors: Sakou
authors: S
authors: S
authors: Komiya
authors: I
authors: I
authors: Inoue
mesh_terms: D000368:Aged; D002874:Chromosome Mapping; D002896:Chromosomes, Human, Pair 6; D003094:Collagen / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D017887:Ossification of Posterior Longitudinal Ligament / Q000235:genetics*; D012737:Sex Factors; D013131:Spine / Q000473:pathology*
chemical_list: D003094:Collagen