Yabuki K, Mizuki N, Ota M, Katsuyama Y, Palimeris G, Stavropoulos C, Koumantaki Y, Spyropoulou M, Giziaki E, Kaklamani V, Kaklamani E, Inoko H, Ohno S
Department of Ophthalmology, Yokohama City University School of Medicine, Yokohama, Kanagawa, Japan.
Invest Ophthalmol Vis Sci. 1999 Aug;40(9):1921-6.
Behçet's disease (BD) is known to be associated with HLA-B51 in many different ethnic groups. Recently MICA, a member of a novel family of the human major histocompatibility complex (MHC) class I genes termed MIC (MHC class I chain-related genes), was identified near the HLA-B gene, and a triplet repeat microsatellite polymorphism was found in the transmembrane (TM) region. Because a strong association with BD of one particular MICA-TM allele, A6, was shown in a Japanese population, the present study was conducted to investigate microsatellite polymorphism in Greek patients with BD to know whether this association is generally observed in BD occurring in other populations.
Thirty-eight Greek patients with BD and 40 ethnically matched control subjects were examined for MICA microsatellite polymorphism using polymerase chain reaction (PCR) and subsequent automated fragment detection by fluorescent-based technology.
Similar to the Japanese patients with BD, the phenotype frequency of the MICA-TM A6 allele was significantly increased in the Greek patients with BD (50.0% in control subjects versus 86.8% in BD cases), with an odds ratio (OR) of 6.60 (P = 0.0012). The MICA-A6 allele was found in a high frequency both in males and females (weighted OR = 6.68; P = 0.0017). No association was found between the A6 allele and several disease features. A strong association exists between the MICA-TM A6 allele and the B*5101 allele in both the control subjects and patients with BD (weighted OR = 44.39; P = 0.0000023).
This study revealed in Greek patients a strong association of BD with a particular MICA-TM allele, MICA-A6, providing insight into the molecular mechanism underlying the development of BD.
已知白塞病（BD）在许多不同种族群体中与HLA - B51相关。最近，在HLA - B基因附近发现了人类主要组织相容性复合体（MHC）I类基因的一个新家族成员MICA（MHC I类链相关基因），并且在跨膜（TM）区域发现了三核苷酸重复微卫星多态性。由于在日本人群中显示出一种特定的MICA - TM等位基因A6与BD有很强的关联性，因此进行本研究以调查希腊BD患者的微卫星多态性，以了解这种关联是否在其他人群中发生的BD中普遍存在。
采用聚合酶链反应（PCR）及随后基于荧光技术的自动片段检测，对38例希腊BD患者和40例种族匹配的对照受试者进行MICA微卫星多态性检测。
与日本BD患者相似，希腊BD患者中MICA - TM A6等位基因的表型频率显著增加（对照受试者中为50.0%，BD病例中为86.8%），优势比（OR）为6.60（P = 0.0012）。MICA - A6等位基因在男性和女性中均以高频率出现（加权OR = 6.68；P = 0.0017）。未发现A6等位基因与几种疾病特征之间存在关联。在对照受试者和BD患者中，MICA - TM A6等位基因与B*5101等位基因之间均存在强关联（加权OR = 44.39；P = 0.0000023）。
本研究揭示在希腊患者中BD与特定的MICA - TM等位基因MICA - A6存在强关联，为深入了解BD发病的分子机制提供了线索。
