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[中国原发性胆汁性肝硬化患者人类白细胞抗原等位基因多态性分析]

[Analysis of HLA alleles polymorphism in Chinese patients with primary biliary cirrhosis].

作者信息

Liu Hai-ying, Deng An-mei, Zhang Jian, Zhou Ye, Yao Ding-kang, Shen Fang, Tu Xiao-qing, Fan Lie-ying, Zhong Ren-qian

机构信息

Department of Laboratory Diagnostics, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China.

出版信息

Zhonghua Gan Zang Bing Za Zhi. 2005 Jun;13(6):410-3.

Abstract

OBJECTIVE

To investigate the frequencies of human leuckocyte antigens (HLA) -A, B and DRB1 alleles in Chinese patients with primary biliary cirrhosis (PBC) using polymerase chain reaction-based techniques, and to assess the correlation of HLA molecules with other clinical and laboratory profiles.

METHODS

Genotyping of HLA-A, B, and DRB1 were performed in 65 well-characterized patients with primary biliary cirrhosis and 431 healthy controls with PCR amplification with sequence-specific primers (PCR-SSP).

RESULTS

The frequency of DRB10701 was increased to 29.2% compared with 13.9% in the controls (PC < 0.05, OR = 2.55, 95% CI: 1.4 approximately 4.6). No association was found with HLA-DRB108 which had been constantly reported. The A2 allele (53.8%) was more frequent in the PBC patient group but without a significant statistical difference. The frequencies for the other A, B and DRB1 alleles were similar between patients and healthy controls. There was no difference between patients with or without DRB10701 in some clinical and laboratory profiles.

CONCLUSION

Susceptibility to primary biliary cirrhosis in Chinese is associated with DRB1*0701 allele and differs from people in North America, South America, North Europe and even in Japan, but the association is not restricted to any particular subgroup of patients. Valine at position 78 of HLA DRbeta1 may play an important role in the pathogenesis of primary biliary cirrhosis.

摘要

目的

运用基于聚合酶链反应的技术,调查中国原发性胆汁性肝硬化(PBC)患者中人类白细胞抗原(HLA)-A、B和DRB1等位基因的频率,并评估HLA分子与其他临床及实验室指标的相关性。

方法

采用序列特异性引物聚合酶链反应(PCR-SSP)对65例特征明确的原发性胆汁性肝硬化患者及431例健康对照进行HLA-A、B和DRB1基因分型。

结果

与对照组的13.9%相比,DRB10701的频率增至29.2%(P<0.05,OR=2.55,95%可信区间:1.4至4.6)。未发现与一直报道的HLA-DRB108存在关联。A2等位基因在PBC患者组中更常见(53.8%),但无显著统计学差异。患者与健康对照中其他A、B和DRB1等位基因的频率相似。在某些临床和实验室指标方面,携带或不携带DRB10701的患者之间无差异。

结论

中国原发性胆汁性肝硬化的易感性与DRB1*0701等位基因相关,与北美、南美、北欧甚至日本人群不同,但这种关联并不局限于任何特定亚组的患者。HLA DRβ1第78位的缬氨酸可能在原发性胆汁性肝硬化的发病机制中起重要作用。

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