Immunogenetic heterogeneity in type 1 (insulin-dependent) diabetes among Japanese — class II antigen and autoimmune thyroid disease

Genetics of the Autoimmune Polyglandular Syndrome Type 3 Variant

“…At least four shared susceptibility genes for APS3v with immune regulatory function have been reported so far (Table 1). These are the human leucocyte antigen class II (HLA-DR3) genes on chromosome 6 (13,(18)(19)(20)(21)(22)(23)(24)(25)(26)(27), the cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) gene on chromosome 2 (28), the protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene on chromosome 1 (29,30), and the forkhead box P3 (FOXP3) gene on the X chromosome (17). Interestingly, one of these confirmed genes, CTLA-4, has only a very weak association with T1D as a single disease, but a much stronger association with APSv3 (31).…”

The role of common genetic markers in susceptibility to type 1 diabetes and autoimmune thyroid diseases

“…Роль HLA II класса в совместной предрасположенности к СД1 и АИЗ ЩЖ Многочисленные исследования, за исключением не-скольких докладов [50,51,52], показали сильное влияние генов HLA II класса на совместную предрасположенность к СД1 и АИЗ ЩЖ в семьях и у одного и того же человека. Кроме того, эта ассоциация прослеживалась в различных эт-нических группах, в том числе у кавказоидов [53][54][55][56][57][58][59], япон-цев [59,60], корейцев [61] и китайцев [62].…”

“…В одном исследовании из Японии сообщалось о высокой рас-пространенности HLA-DR9, а также DQA1*0301 и DRB1*0501 среди пациентов с сочетанием СД1 и ДТЗ [59]. В отли-чие от него, Hashimoto с соавт.…”

The Relationship Between Human Leukocyte Antigen Class II Genes and Type 1 Diabetes, Autoimmune Thyroid Diseases, and Autoimmune Polyendocrine Syndrome Type 3

“…Since 15 to 30% of subjects with T1D have AITD [44][45][46], the effect of these amino acids on T1D may be susceptibility, and that on T1D-AITD might be susceptibility or neutrality, which is weaker than that on T1D or T1D+AITD. There are few reports concerning the effect of HLA DR-DQ genes on T1D-AITD in the Caucasian [57], Japanese [59,61,62], and Taiwan Chinese [60] populations (Table 4). The DRB1*07:01-DQA1*02:01-DQB1*02:02 and DRB1*16:02-DQA1*01:02-DQB1*05:02 haplotypes are rare in the Japanese population [8][9][10]49].…”

“…There are several reports concerning the effect of HLA DR-DQ genes on T1D+AITD, which also studied Caucasian [18,57,63], Japanese [22,58,59,61,62], and Taiwan Chinese [60] populations (Table 4). The DRB1*16:02-DQA1*01:02-DQB1*05:02 haplotype is rare in the Caucasian population as well as in the Japanese population [49], and Menconi et al did not examine patients and controls with the DR16 allele [18].…”