[I型糖尿病中C4和B因子的多态性]

[Polymorphism of C4 and factor B in type I diabetes].

作者信息

Blickle J F, Hauptmann G, Goetz J, Tongio M M, Mayer S, Brogard J M, Dorner M

机构信息

Département de Médecine Interne de la Clinique Médicale B, Centre Hospitalo-Universitaire, Strasbourg, France.

出版信息

Pathol Biol (Paris). 1988 Jun;36(6):791-4.

PMID:3047638

Abstract

The haplotypic frequencies of the fourth component of complement (C4) and factor B (Bf) have been determined in 44 Alsatian type 1 diabetics. An increased frequency of the rare allele Bf F1 (9.1% vs 1.5%) and of the silent alleles of C4 (C4 AQO: 21.6% vers 15.5% -C4 BQO: 29.6% vs 16.0%) was observed in diabetics in comparison to the general population of the same geographic area. A complete HLA haplotype determination has been obtained in 24 type 1 French diabetics. Three haplotypes were associated with the diabetic susceptibility: HLA-A30 CW5 B18 BfF1 C4A3BQO DR3 (18.75% vs 0.86%), HLA-A1 CW7 B8 BfS C4AQOB1 DR3 (15.58% vs 4.17%), HLA-A2 CW3 BW62 BfS C4A3B3 DR4 (6.25% vs 0.45%). The authors suggest that the silent alleles of C4 could modulate the expression of the diabetic susceptibility genes by lowering of the serum C4 hemolytic activity.

摘要

已在44例阿尔萨斯1型糖尿病患者中确定了补体第四成分（C4）和B因子（Bf）的单倍型频率。与同一地理区域的普通人群相比，糖尿病患者中罕见等位基因Bf F1（9.1%对1.5%）和C4沉默等位基因（C4 AQO：21.6%对15.5% - C4 BQO：29.6%对16.0%）的频率增加。已在24例法国1型糖尿病患者中完成了完整的HLA单倍型测定。三种单倍型与糖尿病易感性相关：HLA - A30 CW5 B18 BfF1 C4A3BQO DR3（18.75%对0.86%），HLA - A1 CW7 B8 BfS C4AQOB1 DR3（15.58%对4.17%），HLA - A2 CW3 BW62 BfS C4A3B3 DR4（6.25%对0.45%）。作者认为，C4沉默等位基因可能通过降低血清C4溶血活性来调节糖尿病易感基因的表达。