Dong-Hwan Shin

Comprehensive analysis of cytokine gene polymorphisms defines the association of IL-12 gene with ophthalmopthy in Korean children with autoimmune thyroid disease.

In early onset autoimmune thyroid disease (AITD) showing a strong genetic tendency, cytokines have been suggested to play a critical role in the development of AITD. To directly compare the influences of several cytokine gene polymorphisms, 25 single nucleotide polymorphisms (SNPs) in 17 cytokine genes were analyzed on 104 Korean children with AITD [Hashimotos disease (HD)xa0=xa044, Graves disease (GD)xa0=xa060 (thyroid-associated ophthalmopathy (TAO)xa0=xa029, non-TAOxa0=xa031)] and 192 controls. Compared with healthy controls, any significant association with polymorphisms of cytokine genes was not found in HD and GD. Among GD patients, non-TAO group only showed significant associations with IL-12 C allele (rs3212227: Axa0>xa0C) (76.6% vs. 51.6%, ORxa0=xa00.3 [0.15-0.71], Pcxa0=xa00.007). Particularly, the frequency of IL-12C allele was significantly lower in the non-TAO group than in the TAO group (82.8% vs. 51.6%, Pcxa0=xa00.018). Our comprehensive analysis of cytokine gene polymorphisms suggests that IL-12 gene may play impact on specific pathogenesis of ophthalmopathy in Korean children with AITD.

The HLA-DRB1*09:29 allele identified in a volunteer donor for hematopoietic stem cell transplant

HLA‐DRB1*09:29 differs from HLA‐DRB1*09:01:02:01 in a codon 75 in exon 2.

The HLA-C*07:478 allele identified in a volunteer donor for hematopoietic stem cell transplant

HLA‐C*07:478 differs from HLA‐C*07:02:01:01 in codon 81 in exon 2.

HLA-B*40:330 allele identified in a volunteer donor for hematopoietic stem cell transplant

HLA‐B*40:330 differs from HLA‐B*40:06:01:01 in codons 113 and 116 in exon 3.

The HLA-A*33:110 allele identified in a volunteer donor for hematopoietic stem cell transplant

HLA‐A*33:110 differs from HLA‐A*33:03:01:01 in a codon 149 in exon 3.

The HLA-DQB1*04:02:03 allele identified in a volunteer donor for hematopoietic stem cell transplant

HLA‐DQB1*04:02:03 differs from HLA‐DQB1*04:02:01:01 in a codon 62 in exon 2.

The HLA-C*06:66 allele identified in a volunteer donor for hematopoietic stem cell transplant

HLA‐C*06:66 differs from HLA‐C*06:02:01:01 in codon 151 in exon 3.

The HLA-C*03:272 allele identified in a volunteer donor for hematopoietic stem cell transplant

HLA‐C*03:272 differs from HLA‐C*03:03:01:01 in exon 3, codon 163.

The HLA-C*01:32:02 allele identified in a volunteer donor for hematopoietic stem cell transplant

HLA‐C*01:32:02 differs from HLA‐C*01:02:01:01 in codons 131 and 135 in exon 3.

The HLA-B*58:01:20 allele identified in a volunteer donor for hematopoietic stem cell transplant.

HLA‐B*58:01:20 differs from HLA‐B*58:01:01:01 by a single synonymous nucleotide exchange at position 297 in exon 3.