Department of Pediatrics, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, 637000, People's Republic of China.
Department of Traditional Chinese Medicine, Xi'an Children's Hospital, Xi'an University of Medicine, Xi'an, Shanxi, 710033, People's Republic of China.
Pediatr Nephrol. 2012 Nov;27(11):2059-2064. doi: 10.1007/s00467-012-2216-7. Epub 2012 Jun 15.
Henoch-Schönlein purpura (HSP) is a multisystemic vasculitis of unknown etiology. Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) and CD28 have been reported to be important candidate genes for conferring susceptibility to autoimmunity. In this study, we investigated the correlation of CTLA-4 and CD28 gene polymorphisms with HSP in children with and without renal involvement.
The CTLA-4 exon 1 +49A/G, promoter -318C/T and CD28 IVS3 +17T/C single nucleotide polymorphisms (SNPs) were genotyped in 110 children with HSP and 90 ethnically matched healthy controls through restriction fragment-length polymorphism (RFLP).
The CTLA-4 (+49) GG genotype and G allele (GG + AG genotype) were more common in HSP patients with renal involvement (n = 52) than in HSP patients without renal involvement (n = 58) (P = 0.019 and 0.001, respectively). There were no significant differences in the prevalence of CTLA-4 (+49 A/G), (-318C/T) and CD28 IVS3 (+17 /T/C) polymorphisms between HSP patients and controls.
Our findings suggest that the CTLA-4 +49 GG genotype and G allele may contribute to increased risk for the development of renal damage in HSP patients.
过敏性紫癜（HSP）是一种病因不明的多系统血管炎。细胞毒性 T 淋巴细胞相关抗原-4（CTLA-4）和 CD28 已被报道为赋予自身免疫易感性的重要候选基因。在这项研究中，我们研究了 CTLA-4 和 CD28 基因多态性与伴有和不伴有肾受累的儿童 HSP 之间的相关性。
通过限制性片段长度多态性（RFLP），对 110 例 HSP 患儿和 90 名种族匹配的健康对照者的 CTLA-4 外显子 1+49A/G、启动子-318C/T 和 CD28 IVS3+17T/C 单核苷酸多态性（SNPs）进行了基因分型。
CTLA-4（+49）GG 基因型和 G 等位基因（GG+AG 基因型）在伴有肾受累的 HSP 患者（n=52）中比在不伴有肾受累的 HSP 患者（n=58）中更为常见（P=0.019 和 0.001）。HSP 患者和对照组之间 CTLA-4（+49）A/G、-318C/T 和 CD28 IVS3（+17/T/C）多态性的发生率无显著差异。
我们的研究结果表明，CTLA-4+49 GG 基因型和 G 等位基因可能导致 HSP 患者发生肾损害的风险增加。
