ANTHROPOLOGICAL AND MOLECULAR GENETIC STUDIES ON THE EPIDEMIOLOGY OF INTRACTABLE OCULAR DISEASES

难治性眼病流行病学的人类学和分子遗传学研究

• 批准号: 12576022
• 负责人: OHNO Shigeaki
• 金额: $ 9.79万
• 依托单位: HOKKAIDO UNIVERSITY
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Scientific Research (B)
• 财政年份: 2000
• 资助国家: 日本
• 起止时间: 2000 至 2002
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-12576022/
• 关键词: Behcet's disease; HLA-B51; Greek; B^*5101; Japanese; PCR-SBT method; Italian; Saudi Arabian; 炎症性眼疾患; 原田病; 主要組織適合抗原; 人種差; 遺伝子タイピング; Vogt-小柳-原田病; ぶどう膜炎; HLA-DR4; 分子遺伝学; 人類学; DNA タイピング; 疫学; 人種; シルクロード病

Behcet's disease (BD) is known to be strongly associated with human leukocyte antigen (HLA) B51in many different ethnic groups. HLA-B51 allele typing of Greek BD patients was performed to study the distribution of B^*5101-B^*5107 alleles in this Greek population. The B51 antigen strongly associated with BD was found to be predominantly encoded by allele B^*5101. As it is now known that the B51 antigen can be encoded by 21 alleles, B^*5101-B^*5121, we performed HLA- B^*5101 allele genotyping among 58 Greek patients with BD. After serological HLA typing, typing of HLA-B^*5101 alleles was performed using the polymerase chain reaction-sequencing-based typing (PCR-SBT) method. The frequency of the B51 antigen was found to be significantly higher in the patient group as compared with the control group. In the genotyping of B51 alleles, 34 out of 44 B51-positive patients possessed B^*5101, and 13 out of the 44 carried B^*5108. In contrast, all of the 9 B51-positive normal controls carried B^* … More 5101. This study revealed a strong association of Greeks with BD, with both B^*5101 and B^*5108.HLA-B^*5101 and HLA-B^*5108 were found to be increased in the patient groups among Italian and Saudi Arabian populations. We performed HLA-B^*51 allele genotyping by PCR-SBT method in order to investigate whether there is any correlation of one particular B51-associated allele with Japanese BD. 96 Japanese patients with BD and 132 healthy volunteers were used. As a result, the phenotype frequency of the B51 antigen was confirmed to be remarkably increased in the patient group as compared to the control group. In the B^*51 allele genotyping, 56 of 57 B51-positive patients were defined as B^*5101 and the remaining one was B^*5102.In contrast, all of 18 B51-positive normal controls were B^*5101. None of the Japanese patients and controls carried HLA-B^*5108 allele. This study revealed that B^*51 allelic distribution in Japanese was different from those in Italian and Saudi Arabian populations, and that the significantly high incidence of HLA-B51 antigen in Japanese BD patient group was caused by the increase of HLA-B^*5101 allele. Less

已知白塞氏病 (BD) 与许多不同种族的人类白细胞抗原 (HLA) B51 密切相关，对希腊 BD 患者进行 HLA-B51 等位基因分型，以研究 B^*5101-B^*5107 等位基因的分布。在这个希腊人群中，发现与 BD 密切相关的 B51 抗原主要由等位基因 B^*5101 编码。抗原可由21个等位基因B^*5101-B^*5121编码，我们对58名希腊BD患者进行了HLA-B^*5101等位基因分型。经过血清学HLA分型，HLA-B^*5101等位基因分型为：使用基于聚合酶链反应测序的分型 (PCR-SBT) 方法进行的检测发现，B51 抗原的频率明显更高。与对照组相比，44 名 B51 阳性患者中有 34 名携带 B^*5101，44 名患者中有 13 名携带 B^*5108。 B51 阳性正常对照携带 B^* … 更多 5101。这项研究揭示了希腊人与 BD 之间存在很强的关联，B^*5101 和B^*5108.HLA-B^*5101和HLA-B^*5108在意大利和沙特阿拉伯人群中的患者组中被发现增加，我们通过PCR-SBT方法进行了HLA-B^*51等位基因基因分型。为了调查某一特定 B51 相关等位基因与日本 BD 是否存在相关性，使用了 96 名日本 BD 患者和 132 名健康志愿者。证实患者组的B51抗原较对照组显着升高。在B^*51等位基因基因分型中，57名B51阳性患者中有56名被定义为B^*5101，其余1名为B^。 *5102. 相比之下，所有 18 名 B51 阳性正常对照均为 B^*5101。日本患者和对照均未携带 HLA-B^*5108 等位基因。研究发现，日本人的B^*51等位基因分布与意大利和沙特阿拉伯人群不同，日本BD患者群体中HLA-B51抗原的发生率显着升高是由于HLA-B^*5101的增加造成的等位基因较少

项目成果

Mizuki N, Yabuki K, Ota M, Katsuyama Y, Ohno S, et al.: "Analysis of microsatellite polymorphism around the HLA-B locus in Iranian patients with Behcet's disease"Tissue Antigens. 60. 396-399 (2002)

Mizuki N、Yabuki K、Ota M、Katsuyama Y、Ohno S 等人：“伊朗白塞氏病患者 HLA-B 基因座周围微卫星多态性分析”组织抗原。

Seki S et al.: "Stratification analysis of MICA triplet repeat polymorphisms and HLA antigens associated with ulcerative colitis in Japanese"Tissue Antigens. 58. 71-76 (2001)

Seki S 等人：“日本人溃疡性结肠炎相关的 MICA 三联体重复多态性和 HLA 抗原的分层分析”组织抗原。

Seki S S, Sugimura K, Ota M, Matsuzawa J, Katsuyama Y, Ishizuka K, Mochizuki T, Suzuki K, Yoneyama O, Mizuki N, Honma T, Inoko H, Asakura H: "Stratification analysis of MICA triplet repeat polymorphisms and HLA antigens associated with ulcerative colitis

Seki S S、Sugimura K、Ota M、Matsuzawa J、Katsuyama Y、Ishizuka K、Mochizuki T、Suzuki K、Yoneyama O、Mizuki N、Honma T、Inoko H、Asakura H：“MICA 三联体重复多态性和 HLA 抗原的分层分析

Mizuki N.: "Microsatellite mapping of a susceptibility locus within the HLA region for Behcet's disease using Jordanian patients"Hum Immunol. 62. 186-190 (2001)

Mizuki N.：“使用约旦患者对白塞氏病的 HLA 区域内的易感位点进行微卫星定位”HumImmunol。

Yabuki K, Inoko H, Ohno S: "HLA testing in patients with Uveitis"Int Ophthalmol Clin. 40. 19-35 (2000)

Yabuki K、Inoko H、Ohno S：“葡萄膜炎患者的 HLA 检测”Int Ophasemol Clin。