Gender-specific haplotype association of collagen α2 (XI) gene in ossification of the posterior longitudinal ligament of the spine

被引:72
作者
Maeda, S
Koga, H
Matsunaga, S
Numasawa, T
Ikari, K
Furushima, K
Harata, S
Takeda, J
Sakou, T
Komiya, S
Inoue, I
机构
[1] Univ Tokyo, Inst Med Sci, Div Genet Diag, Minato Ku, Tokyo 1088639, Japan
[2] Kagoshima Univ, Fac Med, Dept Orthoped Surg, Kagoshima 890, Japan
[3] Hirosaki Univ, Sch Med, Dept Orthoped Surg, Hirosaki, Aomori 036, Japan
[4] Gunma Univ, Inst Mol & Cellular Regulat, Dept Cell Biol, Maebashi, Gumma 371, Japan
[5] Sakou Clin, Kagoshima, Japan
关键词
SNPs; haplotype; association study; OPLL; COL11A2;
D O I
10.1007/s100380170117
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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 COL11A2 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 COL11A2 play a specific role in the etiology of OPLL exclusively in males.
引用
收藏
页码:1 / 4
页数:4
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