Kim T-J, Na K-S, Lee H-J, Lee B, Kim T-H
Department of Rheumatology, Chonnam National University Hospital. The Hospital for Rheumatic Diseases, Hanyang University College of Medicine, Seoul, Republic of Korea.
Clin Exp Rheumatol. 2009 Jul-Aug;27(4):574-9.
There is an established association between the development of ankylosing spondylitis (AS) and the HLA-B27 allele, but whether or not homozygosity for HLA B27 has any additional effects on the clinical manifestations of AS is unclear. The aim of this study was to determine the influence of HLA-B27 homozygosity on the clinical manifestations of AS in Korea.
A total of 490 patients were enrolled in this study. Genotyping was carried out using polymerase chain reaction-sequence specific primers (PCR-SSP) to assess HLA-B27 homozygosity or heterozygosity. One PCR reaction was undertaken to determine the HLA-B27 carrier status, and 5 group-specific PCR reactions were carried out to determine all of the other HLA-B alleles. Clinical manifestations of AS and BASFI were also evaluated according to homozygosity or heterozygosity for HLA-B27.
HLA-B27 positive patients had a significantly younger age at symptom onset, more uveitis, and a higher frequency of hip joint involvement than HLA-B27 negative patients. One hundred and forty-six (29.8%) patients were homozygous for HLA-B27. No significant association between HLA-B27 homozygosity or heterozygosity and a history of peripheral arthritis, acute anterior uveitis, age at onset, or the Bath Ankylosing Spondylitis Functional Index (BASFI) was found.
Homozygosity for HLA-B27 does not affect the clinical manifestations of AS in Korean patients.
强直性脊柱炎(AS)的发病与HLA - B27等位基因之间已确定存在关联,但HLA - B27纯合性是否对AS的临床表现有任何额外影响尚不清楚。本研究的目的是确定HLA - B27纯合性对韩国AS患者临床表现的影响。
本研究共纳入490例患者。采用聚合酶链反应 - 序列特异性引物(PCR - SSP)进行基因分型,以评估HLA - B27的纯合性或杂合性。进行一次PCR反应以确定HLA - B27携带状态,并进行5次组特异性PCR反应以确定所有其他HLA - B等位基因。还根据HLA - B27的纯合性或杂合性评估AS的临床表现和巴斯强直性脊柱炎功能指数(BASFI)。
与HLA - B27阴性患者相比,HLA - B27阳性患者症状发作时年龄明显更小,葡萄膜炎更多见,髋关节受累频率更高。146例(29.8%)患者为HLA - B27纯合子。未发现HLA - B27纯合性或杂合性与外周关节炎病史、急性前葡萄膜炎、发病年龄或巴斯强直性脊柱炎功能指数(BASFI)之间存在显著关联。
HLA - B27纯合性不影响韩国AS患者的临床表现。