The search for the genetic contribution to autoimmune thyroid disease: the never ending story?

被引:25
作者
Simmonds, Matthew J. [1 ]
Gough, Stephen C. L. [1 ]
机构
[1] Univ Oxford, Churchill Hosp, Oxford Ctr Diabet Endocrinol & Metab, Oxford OX3 7LJ, England
基金
英国惠康基金;
关键词
autoimmune thyroid disease; Graves' disease; Hashimoto's thyroiditis; linkage analysis; candidate gene studies; genome-wide association screens; GENOME-WIDE ASSOCIATION; D-RECEPTOR GENE; SINGLE-NUCLEOTIDE POLYMORPHISM; GRAVES-DISEASE; SUSCEPTIBILITY LOCI; THYROGLOBULIN GENE; CD40; GENE; HASHIMOTOS-THYROIDITIS; MISSING HERITABILITY; FC RECEPTOR-LIKE-3;
D O I
10.1093/bfgp/elq036
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Unlocking the genetic contribution to autoimmune thyroid disease (AITD) will hold one of the keys to understanding disease pathogenesis and developing improved treatments. Significant increases in our understanding of the human genome combined with methodological advances in our ability to search for genetic variation have transformed the way in which we screen the genome for susceptibility loci. From early linkage analysis through to candidate gene studies and most recently genome-wide association screening, each methodology has revealed important insights into not just the heritability of AITD but also the best way of identifying disease causing DNA variants. This review will examine each of the different genome screening techniques, highlighting the successes and failures of each methodology and the lessons learnt which have helped inform the next phase of the disease-gene identification process. We will also look to see where we should be focusing our research efforts in the future.
引用
收藏
页码:77 / 90
页数:14
相关论文
共 114 条
[1]   Human QTL linkage mapping [J].
Almasy, Laura ;
Blangero, John .
GENETICA, 2009, 136 (02) :333-340
[2]   Arginine at position 74 of the HLA-DR β1 chain is associated with Graves' disease [J].
Ban, Y ;
Davies, TF ;
Greenberg, DA ;
Concepcion, ES ;
Osman, R ;
Oashi, T ;
Tomer, Y .
GENES AND IMMUNITY, 2004, 5 (03) :203-208
[3]   Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population [J].
Ban, Y ;
Taniyama, M ;
Ban, Y .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (12) :4639-4643
[4]   Vitamin D receptor initiation codon polymorphism in Japanese patients with Graves' disease [J].
Ban, Y ;
Ban, Y ;
Taniyama, M ;
Katagiri, T .
THYROID, 2000, 10 (06) :475-480
[5]   The regulatory T cell gene FOXP3 and genetic susceptibility to thyroid autoimmunity:: An association analysis in Caucasian and Japanese cohorts [J].
Ban, Yoshiyuki ;
Tozaki, Teruaki ;
Tobe, Takashi ;
Ban, Yoshio ;
Jacobson, Eric M. ;
Concepcion, Erlinda S. ;
Tomer, Yaron .
JOURNAL OF AUTOIMMUNITY, 2007, 28 (04) :201-207
[6]   Evaluating coverage of genome-wide association studies [J].
Barrett, Jeffrey C. ;
Cardon, Lon R. .
NATURE GENETICS, 2006, 38 (06) :659-662
[7]   Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes [J].
Barrett, Jeffrey C. ;
Clayton, David G. ;
Concannon, Patrick ;
Akolkar, Beena ;
Cooper, Jason D. ;
Erlich, Henry A. ;
Julier, Cecile ;
Morahan, Grant ;
Nerup, Jorn ;
Nierras, Concepcion ;
Plagnol, Vincent ;
Pociot, Flemming ;
Schuilenburg, Helen ;
Smyth, Deborah J. ;
Stevens, Helen ;
Todd, John A. ;
Walker, Neil M. ;
Rich, Stephen S. .
NATURE GENETICS, 2009, 41 (06) :703-707
[8]   Interleukin-13 gene polymorphisms in patients with Graves' disease [J].
Bednarczuk, Tomasz ;
Placha, Grzegorz ;
Jazdzewski, Krystian ;
Kurylowicz, Alina ;
Kloza, Marta ;
Makowska, Urszula ;
Hiromatsu, Yuji ;
Nauman, Janusz .
CLINICAL ENDOCRINOLOGY, 2003, 59 (04) :519-525
[9]   ASSOCIATION OF GRAVES-DISEASE WITH AN ALLELE OF THE INTERLEUKIN-1 RECEPTOR ANTAGONIST GENE [J].
BLAKEMORE, AIF ;
WATSON, PF ;
WEETMAN, AP ;
DUFF, GW .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1995, 80 (01) :111-115
[10]   Genetics of thyroid autoimmunity and the role of the TSHR [J].
Brand, O. J. ;
Gough, S. C. L. .
MOLECULAR AND CELLULAR ENDOCRINOLOGY, 2010, 322 (1-2) :135-143