PTPN22 C1858T polymorphism in women with endometriosis

American Journal of Reproductive Immunology

Volumn 63, Issue 3, 2010, Pages 227-232

  Gomes, Fabiane M C S ^a   Bianco, Bianca ^a   Teles, Juliana S ^a   Christofolini, Denise M ^a   de Souza, Angela M B ^a   Guedes, Alexis D ^b   Barbosa, Caio P ^a  

^a FACULDADE DE MEDICINA DO ABC   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Autoimmune disease; Endometriosis; Polymorphism; PTPN22 gene

Indexed keywords

CYTOSINE; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; THYMINE;

ADULT; ALLELE; ARTICLE; AUTOIMMUNE DISEASE; BRAZIL; CASE CONTROL STUDY; CONTROLLED STUDY; DISEASE PREDISPOSITION; DISEASE SEVERITY; ENDOMETRIOSIS; FEMALE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; BRAZIL; ENDOMETRIOSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; POLYMORPHISM, GENETIC; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 22;

EID: 76549105154     PISSN: 10467408     EISSN: 16000897     Source Type: Journal    
DOI: 10.1111/j.1600-0897.2009.00797.x     Document Type: Article

References (30)

1. Giudice LC, Kao L. Endometriosis. Lancet 2004, 364:1789-1799.
2. Sampons JA. Peritoneal endometriosis due to the menstrual dissemination of endometrial tissue into the peritoneal cavity. Am J Obstet Gynecol 1927, 14:422-469.
3. Matarese G, De Placido G, Nikas Y, Alviggi C. Pathogenesis of endometriosis: natural immunity dysfunction or autoimmune disease? Trends Mol Med 2003, 9:223-228.
4. Wells M. Recent advances in endometriosis with emphasis on pathogenesis, molecular pathology, and neoplastic transformation. Int J Gynecol Pathol 2004, 23:316-320.
5. Witz CA. Pathogenesis of endometriosis. Gynecol Obstet Invest 2002, 53:52-62.
6. Ammendola M, Bottini N, Pietropolli A, Saccucci P, Gloria-Bottini F. Association between PTPN22 and endometriosis. Fertil Steril 2008, 89:993-994.
7. Vigano P, Lattuada D, Somigliana E, Abbiati A, Candiani M, Di Blasio AM. Variants of the CTLA4 gene that segregate with autoimmune diseases are not associated with endometriosis. Mol Hum Reprod 2005, 11:745-749.
8. Wu J, Katrekar A, Honigberg LA, Smith AM, Conn MT, Tang J, Jeffery D, Mortara K, Sampang J, Williams SR, Buggy J, Clark JM. Identification of substrates of human protein-tyrosine phosphatase PTPN22. J Biol Chem 2006, 281:11002-11010.
9. Bottini N, Vang T, Cucca F, Mustelin T. Role of PTPN22 in type 1 diabetes and other autoimmune diseases. Semin Immunol 2006, 18:207-213.
10. 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. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004, 36:337-338.
11. Kyogoku C, Langefeld CD, Ortmann WA, Lee A, Selby S, Carlton VE, Chang M, Ramos P, Baechler EC, Batliwalla FM, Novitzke J, Williams AH, Gillett C, Rodine P, Graham RR, Ardlie KG, Gaffney PM, Moser KL, Petri M, Begovich AB, Gregersen PK, Behrens TW. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004, 75:504-507.
12. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004, 75:330-337.
13. Skórka A, Bednarczuk T, Bar-Andziak E, Nauman J, Ploski R. Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population: association and gene dose-dependent correlation with age of onset. Clin Endocrinol (Oxf) 2005, 62:679-682.
14. Vang T, Miletic AV, Bottini N, Mustelin T. Protein tyrosine phosphatase PTPN22 in human autoimmunity. Autoimmunity 2007, 40:453-461.
15. Classification of endometriosis. Fertil Steril 1997, 67:817-821.
16. Bottini N, Bottini E, Gloria-Bottini F, Mustelin T. Low-molecular-weight protein tyrosine phosphatase and human disease: in search of biochemical mechanisms. Arch Immunol Ther Exp 2002, 50:95-104.
17. Mustelin T, Altman A. TCR signaling pathways and their relevance to autoimmunity. The Molecular Pathology of Autoimmune Diseases 2002, 127-141. Theofilopoulos A, Bona CA. 2nd edn, eds, New York, Taylor & Francis
18. Mustelin T, Abraham RT, Rudd CE, Alonso A, Merlo JJ. Protein tyrosine phosphorylation in T cell signaling. Front Biosci 2002, 1:d918-969.
19. Dmowski WP, Gebel HM, Braun DP. The role of cell-mediated immunity in pathogenesis of endometriosis. Acta Obstet Gynecol Scand 1994, 159:7-14.
20. Antsiferova YS, Sotnikova NY, Posiseeva LV, Shor AL. Changes in the T-helper cytokine profile and in lymphocyte activation at the systemic and local levels in women with endometriosis. Fertil Steril 2005, 84:1705-1711.
21. Gregersen PK. Gaining insight into PTPN22 and autoimmunity. Nat Genet 2005, 37:1300-1302.
22. Marson A, Kretschmer K, Frampton GM, Jacobsen ES, Polansky JK, MacIsaac KD, Levine SS, Fraenkel E, von Boehmer H, Young RA. Foxp3 occupancy and regulation of key target genes during T-cell stimulation. Nature 2007, 445:931-935.
23. Płoski R, Dziunycz P, Kostrzewa G, Roszkowski PI, Barcz E, Zabek J, Milewski L, Kamiński P, Malejczyk J. PTPN22/LYP 1858C> T gene polymorphism and susceptibility to endometriosis in a Polish population. J Reprod Immunol 2009, 79:196-200.
24. Barbosa CP, de Souza AM, Bianco B, Christofolini DM, Mafra FA, de Lima GR. OC-125 immunostaining in endometriotic lesion samples. Arch Gynecol Obstet 2009, 10.1007/s00404-009-1055-7, doi, [Epub ahead of print
25. Barbosa CP, de Souza AM, Bianco B, Christofolini DM, Mafra FA, de Lima GR. Frequency of endometriotic lesions in peritoneum samples of asymptomatic fertile women and correlation with CA125. Sao Paulo Med J 2009, 127. Epub ahead of print
26. Koninckx PR. Is mild endometriosis a condition occurring intermittently in all women? Hum Reprod 1994, 9:2202-2205.
27. Vercellini P, Trespidi L, Panazza S, Bramante T, Mauro F, Crosignani PG. Laparoscopic uterine biopsy for diagnosing diffuse adenomyosis. J Reprod Med 1996, 41:220-224.
28. Nisolle M, Nervo P. Physiopathology and therapeutic management of stage I and II endometriosis. J Gynecol Obstet Biol Reprod 2003, 32:S11-S14.
29. Diamond B. Autoimmunity. Immunol Rev 2005, 204:5-8.
30. Knight JC. Regulatory polymorphisms underlying complex disease traits. J Mol Med 2005, 83:97-109.