Ylinen E, Salmela L, Peräsaari J, Jaatinen T, Tenca A, Vapalahti O, Färkkilä M, Jalanko H, Kolho K-L
Department of Paediatric Nephrology and Transplantation, Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
Department of Gastroenterology, Children's Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland.
Acta Paediatr. 2017 Feb;106(2):322-326. doi: 10.1111/apa.13641. Epub 2016 Nov 16.
The human leucocyte antigen (HLA) allele and haplotype frequencies of the Finnish population are unique because of the restricted and homogenous gene population. There are no published data on HLA genotype associations in paediatric autoimmune liver diseases in Scandinavia. This study characterised the HLA genotypes of children with autoimmune liver or biliary disease in Finland.
The study cohort comprised 19 paediatric patients (13 female) aged three years to 15 years treated for autoimmune liver or biliary disease at the Children's Hospital, Helsinki University Hospital, between 2000 and 2011, and followed up for four years and three months to 14.6 years. We genotyped HLA-B and HLA-DRB1 in the children, and the HLA antigen frequencies were compared with 19 807 records from the Finnish Bone Marrow Donor Registry.
All paediatric patients with autoimmune liver or biliary disease had either autoimmune HLA haplotype B08;DRB103 or DRB113. These were significantly more common among patients with autoimmune hepatitis, primary sclerosing cholangitis and autoimmune hepatitis/primary sclerosing cholangitis overlap syndrome than the Finnish control population. HLA RB104 was not found in the study cohort.
Our study found that B08, DRB103 and DRB1*13 were significantly associated with autoimmune liver and biliary diseases in Finnish paediatric patients.
由于基因群体有限且同质化，芬兰人群的人类白细胞抗原（HLA）等位基因和单倍型频率具有独特性。斯堪的纳维亚半岛尚无关于儿童自身免疫性肝病中HLA基因型关联的已发表数据。本研究对芬兰自身免疫性肝病或胆管疾病患儿的HLA基因型进行了特征分析。
研究队列包括19例年龄在3岁至15岁之间的儿科患者（13例女性），他们于2000年至2011年期间在赫尔辛基大学医院儿童医院接受自身免疫性肝病或胆管疾病治疗，并随访了4年3个月至14.6年。我们对这些儿童进行了HLA - B和HLA - DRB1基因分型，并将HLA抗原频率与芬兰骨髓捐献者登记处的19807条记录进行了比较。
所有自身免疫性肝病或胆管疾病的儿科患者均具有自身免疫性HLA单倍型B08;DRB103或DRB113。在自身免疫性肝炎、原发性硬化性胆管炎和自身免疫性肝炎/原发性硬化性胆管炎重叠综合征患者中，这些单倍型比芬兰对照人群更为常见。研究队列中未发现HLA RB104。
我们的研究发现，B08、DRB103和DRB1*13与芬兰儿科患者的自身免疫性肝病和胆管疾病显著相关
