Tag SNP screening of the PDCD1 gene for association with Graves’ disease

Objective  The Programmed Cell Death 1 gene (PDCD1) on chromosome 2q37.3 encodes PD‐1 which is involved in providing a negative signal to activated T cells. Large case‐control studies have shown association of PDCD1 with several autoimmune diseases although, to date, no such studies have been performed for Graves’ disease (GD). The objective of our study was to investigate eight tag SNPs representing the majority of common variation in PDCD1 within a well‐characterized large UK Caucasian GD dataset.

[1]  S. Moore Detection of Immune-Associated Genetic Markers of Human Disease , 1985 .

[2]  R. Hardy,et al.  The human PD-1 gene: complete cDNA, genomic organization, and developmentally regulated expression in B cell progenitors. , 1997, Gene.

[3]  T. Honjo,et al.  Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif-carrying immunoreceptor. , 1999, Immunity.

[4]  T. Okazaki,et al.  PD-1 immunoreceptor inhibits B cell receptor-mediated signaling by recruiting src homology 2-domain-containing tyrosine phosphatase 2 to phosphotyrosine , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[5]  R. Jonsson,et al.  A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans , 2002, Nature Genetics.

[6]  S. Husby,et al.  Association of a putative regulatory polymorphism in the PD-1 gene with susceptibility to type 1 diabetes. , 2003, Tissue antigens.

[7]  I. Wang,et al.  Program Death-1 Engagement Upon TCR Activation Has Distinct Effects on Costimulation and Cytokine-Driven Proliferation: Attenuation of ICOS, IL-4, and IL-21, But Not CD28, IL-7, and IL-15 Responses , 2003, The Journal of Immunology.

[8]  Shih-Chang Lin,et al.  Association of a programmed death 1 gene polymorphism with the development of rheumatoid arthritis, but not systemic lupus erythematosus. , 2004, Arthritis and rheumatism.

[9]  U. de Faire,et al.  Association of the PD-1.3A allele of the PDCD1 gene in patients with rheumatoid arthritis negative for rheumatoid factor and the shared epitope. , 2004, Arthritis and rheumatism.

[10]  M. Simmonds,et al.  Genetic insights into disease mechanisms of autoimmunity. , 2004, British medical bulletin.

[11]  Lieping Chen Co-inhibitory molecules of the B7–CD28 family in the control of T-cell immunity , 2004, Nature Reviews Immunology.

[12]  A. Voss,et al.  A putative regulatory polymorphism in PD-1 is associated with nephropathy in a population-based cohort of systemic lupus erythematosus patients , 2004, Lupus.

[13]  W. Cookson,et al.  PDCD1: a tissue-specific susceptibility locus for inherited inflammatory disorders , 2005, Genes and Immunity.

[14]  J. Franklyn,et al.  Use of Tag single nucleotide polymorphisms (SNPs) to screen PTPN21: no association with Graves’ disease , 2006, Clinical endocrinology.

[15]  J. Franklyn,et al.  Influences of age, gender, smoking, and family history on autoimmune thyroid disease phenotype. , 2006, The Journal of clinical endocrinology and metabolism.

[16]  P. Concannon,et al.  A Haplotype-Based Analysis of the PTPN22 Locus in Type 1 Diabetes , 2006, Diabetes.

[17]  J. Franklyn,et al.  Contribution of single nucleotide polymorphisms within FCRL3 and MAP3K7IP2 to the pathogenesis of Graves' disease. , 2006, The Journal of clinical endocrinology and metabolism.

[18]  J. Barrett,et al.  Association of PTPN22 haplotypes with Graves' disease. , 2007, The Journal of clinical endocrinology and metabolism.

[19]  J. Todd,et al.  Association of the interleukin‐2 receptor alpha (IL‐2Rα)/CD25 gene region with Graves’ disease using a multilocus test and tag SNPs , 2007, Clinical endocrinology.