Association of Cytotoxic T-Lymphocyte-Associated Protein 4 (CTLA4) Gene Polymorphisms with Autoimmune Thyroid Disease in Children and Adults: Case-Control Study

被引：53

作者：

Ting, Wei-Hsin ^{[1
,3
,5
]}

Chien, Ming-Nan ^{[2
,3
,4
,5
]}

Lo, Fu-Sung ^{[6
,7
]}

Wang, Chao-Hung ^{[2
]}

Huang, Chi-Yu ^{[1
,3
]}

Lin, Chiung-Ling ^{[8
]}

Lin, Wen-Shan ^{[8
]}

Chang, Tzu-Yang ^{[8
]}

Yang, Horng-Woei ^{[8
]}

Chen, Wei-Fang ^{[8
]}

Lien, Ya-Ping ^{[8
]}

Cheng, Bi-Wen ^{[9
]}

Lin, Chao-Hsu ^{[9
]}

Chen, Chia-Ching ^{[10
]}

Wu, Yi-Lei ^{[11
]}

Hung, Chen-Mei ^{[12
]}

Li, Hsin-Jung ^{[13
]}

Chan, Chon-In ^{[1
]}

Lee, Yann-Jinn ^{[1
,3
,8
,14
,15
]}

机构：

[1] MacKay Childrens Hosp, Dept Pediat, Taipei, Taiwan

[2] MacKay Mem Hosp, Dept Endocrinol & Metab, Taipei, Taiwan

[3] MacKay Med Coll, Dept Med, New Taipei, Taiwan

[4] Natl Taipei Univ Technol, Inst Mechatron Engn, Taipei 106, Taiwan

[5] MacKay Jr Coll Med Nursing & Management, New Taipei, Taiwan

[6] Chang Gung Mem Hosp, Dept Pediat, Taoyuan, Taiwan

[7] Chang Gung Univ, Coll Med, Taoyuan, Taiwan

[8] MacKay Mem Hosp Tamsui, Dept Med Res, New Taipei, Taiwan

[9] MacKay Mem Hosp HsinChu, Dept Pediat, Hsinchu, Taiwan

[10] Chiayi Christian Hosp, Dept Pediat, Chiayi, Taiwan

[11] Changhua Christian Hosp, Dept Pediat, Changhua, Taiwan

[12] Hsinchu Cathay Gen Hosp, Dept Pediat, Hsinchu, Taiwan

[13] St Martin De Porres Hosp, Dept Pediat, Chiayi, Taiwan

[14] Taipei Med Univ, Sch Med, Dept Pediat, Coll Med, Taipei, Taiwan

[15] MacKay Med Coll, Inst Biomed Sci, New Taipei, Taiwan

来源：

PLOS ONE | 2016年 / 11卷 / 04期

关键词：

GRAVES-DISEASE; HASHIMOTOS-THYROIDITIS; CHROMOSOME; 2Q33; SOLUBLE CTLA-4; STOP-SIGNAL; SUSCEPTIBILITY; POPULATION; METAANALYSIS; PROMOTER; JAPANESE;

D O I：

10.1371/journal.pone.0154394

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Autoimmune thyroid disease (AITD), including Graves disease (GD) and Hashimoto disease (HD), is an organ-specific autoimmune disease with a strong genetic component. Although the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) polymorphism has been reported to be associated with AITD in adults, few studies have focused on children. The aim of our study was to investigate whether the CTLA4 polymorphisms, including -318C/T (rs5742909), + 49A/G (rs231775), and CT60 (rs3087243), were associated with GD and HD in Han Chinese adults and children. We studied 289 adult GD, 265 pediatric GD, 229 pediatric HD patients, and 1058 healthy controls and then compared genotype, allele, carrier, and haplotype frequencies between patients and controls. We found that CTLA4 SNPs + 49A/G and CT60 were associated with GD in adults and children. Allele G of + 49A/G was significantly associated with GD in adults (odds ratio [OR], 1.50; 95% confidence interval [CI], 1.21-1.84; corrected P value [Pc] < 0.001) and children (OR, 1.42; 95% CI, 1.15-1.77; Pc = 0.002). Allele G of CT60 also significantly increased risk of GD in adults (OR, 1.63; 95% CI, 1.27-2.09; Pc < 0.001) and GD in children (OR, 1.58; 95% CI, 1.22-2.04; Pc < 0.001). Significant linkage disequilibrium was found between +49A/G and CT60 in GD and control subjects (D' = 0.92). Our results showed that CTLA4 was associated with both GD and HD and played an equivalent role in both adult and pediatric GD in Han Chinese population.

引用

页数：13

共 74 条

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