Affiliations: Department of Allergy, Immunology and Rheumatology,
Dalin Tzu Chi Buddhist Hospital, Chia Yi, Taiwan | College of Medicine, Tzu Chi University, Hualien,
Taiwan | Buddhist Tzu Chi Stem Cells Center, Hualien,
Taiwan
Note: [] Corresponding author: Lai Ning-Sheng, MD, PhD, Section of
Allergy, Immunology and Rheumatology, Department of Medicine, Dalin Tzu Chi
Buddhist Hospital, No2, Ming-Shen Road, Dalin Town, City of ChiaYi, Taiwan.
Tel.: +886 5 2648000 ext 5010; Fax: +886 5 2648555; E-mail:
nslai@airpa.org.tw
Abstract: Objective: To evaluate the possible relationship between HLA
alleles and bony ankylosis of the spine (bamboo spine) in Taiwanese patients
with ankylosing spondylitis (AS). Methods: A small cohort of HLA-B27 positive AS patients was
conducted to analyze the effects of alleles {and haplotypes} on the development
of bamboo spine. DNA typing of HLA class I and class II genes were performed by
SSP method on primary ankylosing spondylitis patients with bamboo spine (n =
84) and spinal enthesopathy controls (n = 228). Odds ratios with 95%
confidence intervals and P value were estimated. Determination of the most
probable HLA haplotypes on all patients were constructed by comparison of the
alleles carried by each patient with the HLA haplotype database established in
Taiwanese population studies using homozygosity approach [1] and by
expectation-maximum algorithm [2]. Results: Allele frequencies of HLA A33, B58, Cw10, DR4, DR17
and DQ2 were significantly lower in bamboo patients as compared to non-bamboo
controls. In contrast, allele frequencies of A24, B54, Cw15, DR11 and DR14 were
significantly higher in bamboo patients. Less remarkably, high frequencies of
B39, B51, Cw1 and Cw2 alleles were also noted in bamboo patients. Considering
linkage disequilibria of alleles in haplotypes, HLA-A11-B27-Cw12 was the most
common haplotype in both bamboo and non-bamboo groups (95.23% vs.
91.22%, respectively, P = 0.238). {Haplotypes A33-B58-Cw10,
A33-B58-Cw10-DR13 and A33-B58-Cw10-DR17} were significantly lower in bamboo
patients as compared to those in controls (P < 0.001, P = 0.001, P =
0.002, respectively). Conclusion: Haplotypes A33-B58-Cw10, A33-B58-Cw10-DR13 and
A33-B58-Cw10-DR17 showed a strong association with bamboo spine in Taiwanese AS
patients. Detection of such haplotypes might be a great aid in the management
of patients with the disease.
