Genetics of Type 1 Diabetes and Autoimmune Thyroid Disease

被引：29

作者：

Pearce, Simon H. S. ^{[1
]}

Merriman, Tony R. ^{[2
]}

机构：

[1] Univ Newcastle, Inst Human Genet, Int Ctr Life, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England

[2] Univ Otago, Dept Biochem, Dunedin, New Zealand

来源：

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2009年 / 38卷 / 02期

关键词：

Autoimmunity; Genomics; Grave's disease; Type; 1; diabetes; Genome-wide association; LYMPHOID TYROSINE PHOSPHATASE; SINGLE-NUCLEOTIDE POLYMORPHISM; GENOME-WIDE ASSOCIATION; GRAVES-DISEASE; COPY NUMBER; THYROGLOBULIN GENE; CTLA-4; GENE; FUNCTIONAL VARIANT; INSULIN EXPRESSION; FC RECEPTOR-LIKE-3;

D O I：

10.1016/j.ecl.2009.01.012

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

The search for the susceptibility alleles for the complex genetic conditions of type 1 diabetes and autoimmune thyroid diseases has gained momentum in recent years. Studies have revealed several novel disease susceptibility alleles of relevance to both conditions, which brings the total number of genetic variants contributing to type 1 diabetes to ten. Additional genetic loci remain to be discovered, particularly in the autoimmune thyroid diseases. In the future, the density and coverage of single nucleotide polymorphisms available for high throughput genotyping will improve, and detailed analysis of the role of copy number variants in these diseases will shed new light on the pathogenesis of these common endocrinopathies.

引用

页码：289 / +

页数：15

共 80 条

[1]

Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans [J].

Aitman, TJ ;

Dong, R ;

Vyse, TJ ;

Norsworthy, PJ ;

Johnson, MD ;

Smith, J ;

Mangion, J ;

Roberton-Lowe, C ;

Marshall, AJ ;

Petretto, E ;

Hodges, MD ;

Bhangal, G ;

Patel, SG ;

Sheehan-Rooney, K ;

Duda, M ;

Cook, PR ;

Evans, DJ ;

Domin, J ;

Flint, J ;

Boyle, JJ ;

Pusey, CD ;

Cook, HT .

NATURE, 2006, 439 (7078) :851-855

[2]

Allelic effects on gene regulation at the autoimmunity-predisposing CTLA4 locus:: a re-evaluation of the 3′+6230G> polymorphism [J].

Anjos, SM ;

Shao, W ;

Marchand, L ;

Polychronakos, C .

GENES AND IMMUNITY, 2005, 6 (04) :305-311

[3]

Association of CTLA4 polymorphism with regulatory T cell frequency [J].

Atabani, SF ;

Thio, CL ;

Divanovic, S ;

Trompette, A ;

Belkaid, Y ;

Thomas, DL ;

Karp, CL .

EUROPEAN JOURNAL OF IMMUNOLOGY, 2005, 35 (07) :2157-2162

[4]

Amino acid substitutions in the thyroglobulin gene are associated with susceptibility to human and murine autoimmune thyroid disease [J].

Ban, Y ;

Greenberg, DA ;

Concepcion, E ;

Skrabanek, L ;

Villanueva, R ;

Tomer, Y .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2003, 100 (25) :15119-15124

[5]

Association of a C/T single-nucleotide polymorphism in the 5′ untranslated region of the CD40-gene with Graves' disease in Japanese [J].

Ban, Yoshiyuki ;

Tozaki, Teruaki ;

Taniyama, Matsuo ;

Tomita, Motowo ;

Ban, Yoshio .

THYROID, 2006, 16 (05) :443-446

[6]

Rentapping the insulin gene/IDDM2 locus in type 1 diabetes [J].

Barratt, BJ ;

Payne, F ;

Lowe, CE ;

Hermann, R ;

Healy, BC ;

Harold, D ;

Concannon, P ;

Gharani, N ;

McCarthy, MI ;

Olavesen, MG ;

McCormack, R ;

Guja, C ;

Ionescu-Tîrgoviste, C ;

Undlien, DE ;

Ronningen, KS ;

Gillespie, KM ;

Tuomilehto-Wolf, E ;

Tuomilehto, J ;

Bennett, ST ;

Clayton, DG ;

Cordell, HJ ;

Todd, JA .

DIABETES, 2004, 53 (07) :1884-1889

[7]

A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes [J].

Bottini, N ;

Musumeci, L ;

Alonso, A ;

Rahmouni, S ;

Nika, K ;

Rostamkhani, M ;

MacMurray, J ;

Meloni, GF ;

Lucarelli, P ;

Pellecchia, M ;

Eisenbarth, GS ;

Comings, D ;

Mustelin, T .

NATURE GENETICS, 2004, 36 (04) :337-338

[8]

Association of the interleukin-2 receptor alpha (IL-2Rα)/CD25 gene region with Graves' disease using a multilocus test and tag SNPs [J].

Brand, Oliver J. ;

Lowe, Christopher E. ;

Heward, Joanne M. ;

Franklyn, Jayne A. ;

Cooper, Jason D. ;

Todd, John A. ;

Gough, Stephen C. L. .

CLINICAL ENDOCRINOLOGY, 2007, 66 (04) :508-512

[9]

Evidence for a major role of heredity in Graves' disease:: A population-based study of two Danish twin cohorts [J].

Brix, TH ;

Kyvik, KO ;

Christensen, K ;

Hegedüs, L .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (02) :930-934

[10]

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

← 1 2 3 4 5 6 7 8 →