HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families

被引：28

作者：

Sugihara, Shigetaka ^{[1
]}

Ogata, Tsutomu ^{[2
]}

Kawamura, Tomoyuki ^{[3
]}

Urakami, Tatsuhiko ^{[4
]}

Takemoto, Koji ^{[5
]}

Kikuchi, Nobuyuki ^{[6
]}

Takubo, Noriyuki ^{[7
]}

Tsubouchi, Kohji ^{[8
]}

Horikawa, Reiko ^{[9
]}

Kobayashi, Kisho ^{[10
]}

Kasahara, Yoshihito ^{[11
]}

Kikuchi, Tohru ^{[12
]}

Koike, Akemi ^{[13
]}

Mochizuki, Takahiro ^{[14
]}

Minamitani, Kanshi ^{[15
]}

Takaya, Ryuzo ^{[16
]}

Mochizuki, Hiroshi ^{[17
]}

Nishii, Aki ^{[18
]}

Yokota, Ichiro ^{[19
,20
]}

Kizaki, Zenro ^{[21
]}

Mori, Tetsuo ^{[22
]}

Shimura, Naoto ^{[23
]}

Mukai, Tokuo ^{[24
]}

Matsuura, Nobuo ^{[25
]}

Fujisawa, Takao ^{[26
]}

Ihara, Kenji ^{[27
]}

Kosaka, Kitaro ^{[28
]}

Kizu, Rika ^{[29
]}

Takahashi, Toshikazu ^{[30
]}

Matsuo, Satoshi ^{[31
]}

Hanaki, Keiichi ^{[32
]}

Igarashi, Yutaka ^{[33
]}

Sasaki, Goro ^{[34
]}

Soneda, Shun ^{[35
]}

Teno, Shinichi ^{[36
]}

Kanzaki, Susumu ^{[37
]}

Saji, Hiroh ^{[38
]}

Tokunaga, Katsushi ^{[39
]}

Amemiya, Shin ^{[40
]}

机构：

[1] Tokyo Womens Med Univ, Dept Pediat, Med Ctr E, Arakawa Ku, Tokyo 1168567, Japan

[2] Natl Res Inst Child Hlth & Dev, Tokyo, Japan

[3] Osaka City Univ, Sch Med, Osaka 545, Japan

[4] Surugadai Nihon Univ Hosp, Dept Pediat, Tokyo, Japan

[5] Ehime Univ, Dept Pediat, Sch Med, Matsuyama, Ehime, Japan

[6] Yokohama City Univ, Dept Pediat, Yokohama, Kanagawa 232, Japan

[7] Kitasato Univ, Sch Med, Dept Pediat, Sagamihara, Kanagawa 228, Japan

[8] Chuno Kosei Hosp, Dept Pediat, Seki, Japan

[9] Natl Ctr Child Hlth & Dev, Div Endocrinol & Metab, Tokyo, Japan

[10] Yamanashi Univ, Dept Pediat, Sch Med, Chuo, Japan

[11] Kanazawa Univ, Sch Med, Dept Pediat, Kanazawa, Ishikawa 920, Japan

[12] Niigata Univ, Sch Med, Dept Pediat, Niigata, Japan

[13] Koike Child Clin, Sapporo, Hokkaido, Japan

[14] Osaka City Gen Med Ctr, Dept Pediat, Osaka, Japan

[15] Teikyo Univ, Dept Pediat, Chiba Med Ctr, Ichihara, Chiba, Japan

[16] Osaka Med Coll, Dept Pediat, Takatsuki, Osaka 569, Japan

[17] Saitama Childrens Med Ctr, Saitama, Japan

[18] JR Sendai Hosp, Dept Pediat, Sendai, Miyagi, Japan

[19] Kagawa Childrens Hosp, Zentsuji, Japan

[20] Univ Tokushima, Sch Med, Dept Pediat, Tokushima 770, Japan

[21] Japanese Red Cross Kyoto Daiichi Hosp, Dept Pediat, Kyoto, Japan

[22] Nagano Red Cross Hosp, Dept Pediat, Nagano, Japan

[23] Dokkyo Med Univ, Dept Pediat, Mibu, Tochigi, Japan

[24] Asahikawa Med Univ, Dept Pediat, Asahikawa, Hokkaido, Japan

[25] Teine Keijinkai Hosp, Dept Pediat, Sapporo, Hokkaido, Japan

[26] Natl Mie Hosp, Dept Pediat, Tsu, Mie, Japan

[27] Kyushu Univ, Sch Med, Dept Pediat, Fukuoka 812, Japan

[28] Kyoto Prefectural Univ Med, Dept Pediat, Kyoto 602, Japan

[29] Yokosuka Kyosai Hosp, Dept Pediat, Yokosuka, Kanagawa, Japan

[30] Takahashi Clin, Kobe, Hyogo, Japan

[31] Matsuo Child Clin, Kyoto, Japan

[32] Tottori Prefectural Kousei Hosp, Dept Pediat, Kurayoshi, Japan

[33] Igarashi Childrens Clin, Sendai, Miyagi, Japan

[34] Ichikawa Gen Hosp, Tokyo Dent Coll, Dept Pediat, Ichikawa, Japan

[35] St Marianna Univ, Dept Pediat, Sch Med, Kawasaki, Kanagawa, Japan

[36] Teno Clin, Izumo, Shimane, Japan

[37] Tottori Univ, Fac Med, Dept Pediat, Yonago, Tottori 683, Japan

[38] NPO, HLA Lab, Kyoto, Japan

[39] Univ Tokyo, Grad Sch Med, Dept Human Genet, Tokyo, Japan

[40] Saitama Med Univ, Dept Pediat, Iruma, Saitama, Japan

来源：

PEDIATRIC DIABETES | 2012年 / 13卷 / 01期

基金：

日本学术振兴会;

关键词：

genetic factors; HLA; Japanese children; type; 1; diabetes; DQ BETA-CHAIN; ASPARTIC-ACID; SUSCEPTIBILITY; ASSOCIATION; IDDM; HETEROGENEITY; MELLITUS; ALLELES; GENE; INHERITANCE;

D O I：

10.1111/j.1399-5448.2011.00833.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective: To determine the HLA-DRB1, DQB1, DPB1, A, C, and B genotypes among Japanese children with autoimmune type 1 diabetes. Methods: Four hundred and thirty patients who were GADAb and/ or IA-2Ab-positive (Type 1A) were recruited from 37medical centers as part of a nationwide multicenter collaborative study. DNA samples from 83 siblings of the children with Type 1A diabetes and 149 parent-child trios were also analyzed. A case-control study and a transmission disequilibrium test (TDT) were then performed. Results: The susceptible and protective DRB1 and DQB1 alleles and haplotypes were confirmed. DPB1 alleles unique to the Japanese population and those common to multiple ethnic groups were also present. A linkage disequilibrium (LD) analysis showed both susceptible and protective haplotypes. The TDT did not reveal any alleles that were transmitted preferentially from the mother or father to children with Type 1A. Homozygosity for DRB1* 09: 01-DQB1* 03: 03 and heterozygosity for DRB1* 04: 05-DQB1* 04: 01 and DRB1* 08: 02-DQB1* 03: 02 were associated with an extremely high risk of Type 1A. A comparison of children with Type 1A and their parents and siblings suggested a dose effect of susceptible DRB1-DQB1 haplotypes and an effect of protective alleles on immunological pathogenesis. DRB1* 09: 01 appeared to be strongly associated with an early onset in preschool children with Type 1A diabetes. Conclusions: This study demonstrated the characteristic association of HLA-class II and class I genes with Type 1A diabetes among Japanese children. A TDT did not reveal the genomic imprinting of HLA-class II and class I genes in Type 1A diabetes.

引用

页码：33 / 44

页数：12

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