Tait B, Mackay I R, Board P, Coggan M, Emery P, Eckardt G
Tissue Typing Laboratory, Royal Melbourne Hospital, Walter and Eliza Hall Institute of Medical Research, Victoria, Australia.
Gastroenterology. 1989 Aug;97(2):479-81. doi: 10.1016/0016-5085(89)90088-7.
Genetic determinants of the autoimmune type of chronic active hepatitis include the major histocompatibility complex alleles HLA-B8 and HLA-DR3, which are usually present as the haplotype A1, B8, DR3. In certain other autoimmune diseases, an extended haplotype including complement alleles confers a greater relative risk than does B8, DR3. Hence, extended haplotypes were ascertained in autoimmune chronic active hepatitis by typing for HLA, complement alleles C4A, C4B, and Bf, and glyoxalase type 1 or 2. Eight of the 10 B8, DR3 haplotypes were A1, B8, DR3. Of the 8, 7 had the extended haplotype A1, B8, C4AQ0, C4B1, BfS, DR3, but this haplotype occurred in four instances with glyoxalase 2 and in three with glyoxalase 1. Thus, we find that in autoimmune chronic active hepatitis there is a high frequency of null alleles for complement but an extended haplotype does not cause any greater risk for disease than B8, DR3 alone.
自身免疫型慢性活动性肝炎的遗传决定因素包括主要组织相容性复合体等位基因HLA - B8和HLA - DR3，它们通常以单倍型A1、B8、DR3的形式出现。在某些其他自身免疫性疾病中，一种包含补体等位基因的扩展单倍型比B8、DR3具有更高的相对风险。因此，通过对HLA、补体等位基因C4A、C4B和Bf以及乙二醛酶1型或2型进行分型，确定了自身免疫性慢性活动性肝炎中的扩展单倍型。10个B8、DR3单倍型中有8个是A1、B8、DR3。在这8个中，7个具有扩展单倍型A1、B8、C4AQ0、C4B1、BfS、DR3，但这种单倍型在4例中与乙二醛酶2相关，在3例中与乙二醛酶1相关。因此，我们发现在自身免疫性慢性活动性肝炎中补体无效等位基因的频率很高，但扩展单倍型并不会比单独的B8、DR3导致更高的疾病风险。
