Cataldo F, Caruso C, Maltese I, Lio D, Marino V, Albeggiani A
Clinica Pediatrica R, P.O. Aiuto Materno, Palermo, Italia.
Pediatr Med Chir. 1990 Jul-Aug;12(4):343-6.
The authors have studied the HLA genotypes in 17 Sicilian coeliac children, in their parents and in their healthy brothers. A positive association has been found between coeliac disease (C.D.) and HLA antigens; this was strongest firstly for DQW2 and than for DR7 and DR3. Those antigens however do not result specific for C.D., because they were present in healty-control population too and because one coeliac patient was DQW2, DR7 and DR3 negative. A distortion of vertical transmission of HLA haplotypes has been observed in the studied patients, and this occurred for DR3/DQW2 that was transmitted mainly by paternal way. Moreover, in the healty brothers of our coeliac subjects a significant reduction of HLA antigens DQW2, DR7 and DR3 has not been found. Those observation and the finding that in our families the responsible gene for C.D. seems to have a low penetrance, should induce to search others genetic markers for coeliac disease.
作者研究了17名西西里岛腹腔疾病儿童及其父母和健康兄弟姐妹的HLA基因型。发现腹腔疾病(C.D.)与HLA抗原之间存在正相关;这种相关性首先在DQW2上最为显著,其次是DR7和DR3。然而,这些抗原并非腹腔疾病所特有的,因为它们也存在于健康对照人群中,并且有一名腹腔疾病患者为DQW2、DR7和DR3阴性。在所研究的患者中观察到HLA单倍型垂直传递的畸变,这种情况发生在主要通过父系方式传递的DR3/DQW2上。此外,在我们腹腔疾病患者的健康兄弟姐妹中,未发现HLA抗原DQW2、DR7和DR3有显著减少。这些观察结果以及我们家族中腹腔疾病致病基因似乎具有低外显率这一发现,应该促使人们寻找其他腹腔疾病的遗传标记。