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目的 分析 HLA—DRB1等位基因与上海地区I型自身免疫性肝炎（AIH）的相关性,探讨 AIH的遗传易感背景。方法 采用序列特异性多聚酶链反应（PCR—SSP）,对32例I型AIH患者和48例健康对照者进行HLA—DRB1等位基因及有关基因亚型的分析。结果HLA—DR4基因频率在I型AIH患者中较健康对照组显著增高[46.9％与20.8％;相对危险度（RR）=3.35,x2=5.99,P=0.014]。其他等位基因在两组间差异无显著性。进一步对HLA-DR4等位基因亚型的分析表明,I型AIH患者组DRB1＊0405的基因频率较健康对照组有增加趋势（21.9％与6.3％,x2=4.23,P=0.04,但 Pc=0.08）。HLA—DRβ分子的第3等位基因高变区第71位精氨酸残基的频率在I型AIH患者中显著增高（46.9％与 18.8％,x2=7.14,P=0.008）。结论 上海地区I型 AIH的发病与HLA—DR4以及HLA—DRB1第3高变区DR71位精氨酸残基相关。
Objective To analyze the association between HLA-DRB1 alleles and type I autoimmune hepatitis (AIH) in Shanghai and to explore the genetic background of AIH. Methods HLA-DRB1 alleles and related subtypes were analyzed in 32 patients with type I AIH and 48 healthy controls by sequence-specific polymerase chain reaction (PCR-SSP). Results The frequency of HLA-DR4 gene was significantly higher in type I AIH patients than in healthy controls [46.9% vs 20.8%; RR = 3.35, x2 = 5.99, P = 0.014]. There was no significant difference in other alleles between the two groups. Further analysis of HLA-DR4 allelic subtypes showed that the frequencies of DRB1 * 0405 genes in type I AIH patients tended to increase (21.9% vs. 6.3%, x2 = 4.23, P = 0.04 but Pc = 0.08). The frequency of arginine residue 71 in the hypervariable region of HLA-DRβ was significantly higher in type I AIH patients (46.9% vs 18.8%, x2 = 7.14, P = 0.008). Conclusions The incidence of type I AIH in Shanghai is related to HLA-DR4 and arginine residues at DR71 in hypervariable region 3 of HLA-DRB1.