Kim Sung-Do, Park Jae-Man, Kim Il-Soo, Choi Kang-Duk, Lee Byung-Cheol, Lee Sang-Ho, Hong Seung-Jae, Jin Sheng-Yu, Lee Hee-Jae, Hong Mee-Suk, Chung Joo-Ho, Lee Tae-Won, Ihm Chun-Gyoo, Cho Byoung-Soo
East West Kidney Disease Research Institute, College of Medicine, Kyung Hee University Hospital, Seoul, Korea.
Pediatr Nephrol. 2004 Mar;19(3):295-9. doi: 10.1007/s00467-003-1403-y. Epub 2004 Feb 3.
We investigated the association between IL-1beta, IL-1ra, and TNF-alpha gene polymorphisms and childhood nephrotic syndrome (NS). We analyzed the genetic polymorphism of IL-1beta, IL-1ra, and TNF-alpha genes in 152 patients with childhood NS and 292 healthy adult controls. The C to T exchange at position -511 of IL-1beta and the G to A at -308 of the TNF-alpha gene were genotyped. Five alleles of the IL-1ra gene were identified and designated as IL1RN1, IL1RN2, IL1RN3, IL1RN4, and IL1RN5, according to the variable number of tandem repeats in intron 2. The allele frequencies of IL-1beta1 (-511C), IL-1beta2 (-511T), TNF1 (-308G), and TNF2 (-308A) were 53.0, 47.0, 92.1, and 7.9%, respectively, in the childhood NS group. This was not significantly different from normal controls. In the childhood NS group, the allele frequencies of IL1RN1, IL1RN2, IL1RN3, IL1RN4, and IL1RN5 were 90.8, 7.6, 1.6, 0, and 0% [IL1RN1 odds ratio (OR)=0.296, P=0.0001, IL1RN2 OR=3.902, P=0.0002]. A high allele frequency of IL1RN2 and a lower allele frequency of IL1RN1 were found in childhood NS, although there was no association with IL-1beta and TNF-alpha. A high allele frequency of the IL1RN*2 allele may affect disease susceptibility in childhood NS.
我们研究了白细胞介素-1β（IL-1β）、白细胞介素-1受体拮抗剂（IL-1ra）和肿瘤坏死因子-α（TNF-α）基因多态性与儿童肾病综合征（NS）之间的关联。我们分析了152例儿童NS患者和292例健康成人对照中IL-1β、IL-1ra和TNF-α基因的遗传多态性。对IL-1β基因-511位的C到T交换以及TNF-α基因-308位的G到A进行基因分型。根据内含子2中串联重复序列的可变数目，鉴定出IL-1ra基因的五个等位基因，并将其命名为IL1RN1、IL1RN2、IL1RN3、IL1RN4和IL1RN5。儿童NS组中IL-1β1（-511C）、IL-1β2（-511T）、TNF1（-308G）和TNF2（-308A）的等位基因频率分别为53.0%、47.0%、92.1%和7.9%。这与正常对照组无显著差异。在儿童NS组中，IL1RN1、IL1RN2、IL1RN3、IL1RN4和IL1RN5的等位基因频率分别为90.8%、7.6%、1.6%、0%和0%[IL1RN1优势比（OR）=0.296，P=0.0001，IL1RN2 OR=3.902，P=0.0002]。在儿童NS中发现IL1RN2的等位基因频率较高，而IL1RN1的等位基因频率较低，尽管与IL-1β和TNF-α无关联。IL1RN*2等位基因的高频率可能影响儿童NS的疾病易感性。
