The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey.
A functional single nucleotide polymorphism (SNP) of the PTPN22 gene encoding a protein tyrosine phosphatase has been associated with autoimmune disorders including myasthenia gravis (MG). As the PTPN22 R620W polymorphism has a wide variation of allele frequencies among different populations, this p...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2014-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC4132102?pdf=render |
| _version_ | 1811235638516645888 |
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| author | Gizem A Kaya Ayse N Coşkun Vuslat Yılmaz Piraye Oflazer Yeşim Gülsen-Parman Fikret Aysal Rian Disci Haner Direskeneli Alexander Marx Feza Deymeer Güher Saruhan-Direskeneli |
| author_facet | Gizem A Kaya Ayse N Coşkun Vuslat Yılmaz Piraye Oflazer Yeşim Gülsen-Parman Fikret Aysal Rian Disci Haner Direskeneli Alexander Marx Feza Deymeer Güher Saruhan-Direskeneli |
| author_sort | Gizem A Kaya |
| collection | DOAJ |
| description | A functional single nucleotide polymorphism (SNP) of the PTPN22 gene encoding a protein tyrosine phosphatase has been associated with autoimmune disorders including myasthenia gravis (MG). As the PTPN22 R620W polymorphism has a wide variation of allele frequencies among different populations, this polymorphism was investigated in MG in Turkey. An emphasis is put on MG subgroups according to autoantibody (Abs) production and presence of thymoma. DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholine receptor, AChR-MG), 53 with Abs to muscle-specific kinase (MuSK-MG), 55 patients with no detectable Abs (SN-MG), 77 patients with thymoma (TAMG) and 293 healthy controls (HC) were genotyped for the SNP (PTPN22 R620W, C1858T, rs2476601). The PTPN22 T allele was increased in AChR-MG patients (odds ratio [OR]: 2.5, 95%CI: 1.2-5.1). The association was stronger in late disease-onset AChR (LOMG, OR: 3.1, 95%CI: 1.2-8.2). MuSK-MG, SN-MG and TAMG groups did not carry the variant allele more frequently than the HC. In contrast to findings in other autoimmune diseases, the distribution of the PTPN22 polymorphism in this population provides a susceptibility marker for AChR-MG. The strongest association is detected in patients with LOMG. |
| first_indexed | 2024-04-12T11:54:16Z |
| format | Article |
| id | doaj.art-e0bc981112984bec8fc9f1185e055cf5 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-04-12T11:54:16Z |
| publishDate | 2014-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-e0bc981112984bec8fc9f1185e055cf52022-12-22T03:34:03ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0198e10476010.1371/journal.pone.0104760The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey.Gizem A KayaAyse N CoşkunVuslat YılmazPiraye OflazerYeşim Gülsen-ParmanFikret AysalRian DisciHaner DireskeneliAlexander MarxFeza DeymeerGüher Saruhan-DireskeneliA functional single nucleotide polymorphism (SNP) of the PTPN22 gene encoding a protein tyrosine phosphatase has been associated with autoimmune disorders including myasthenia gravis (MG). As the PTPN22 R620W polymorphism has a wide variation of allele frequencies among different populations, this polymorphism was investigated in MG in Turkey. An emphasis is put on MG subgroups according to autoantibody (Abs) production and presence of thymoma. DNA samples from 416 patients with clinically diagnosed generalized MG (231 with Abs to acetylcholine receptor, AChR-MG), 53 with Abs to muscle-specific kinase (MuSK-MG), 55 patients with no detectable Abs (SN-MG), 77 patients with thymoma (TAMG) and 293 healthy controls (HC) were genotyped for the SNP (PTPN22 R620W, C1858T, rs2476601). The PTPN22 T allele was increased in AChR-MG patients (odds ratio [OR]: 2.5, 95%CI: 1.2-5.1). The association was stronger in late disease-onset AChR (LOMG, OR: 3.1, 95%CI: 1.2-8.2). MuSK-MG, SN-MG and TAMG groups did not carry the variant allele more frequently than the HC. In contrast to findings in other autoimmune diseases, the distribution of the PTPN22 polymorphism in this population provides a susceptibility marker for AChR-MG. The strongest association is detected in patients with LOMG.http://europepmc.org/articles/PMC4132102?pdf=render |
| spellingShingle | Gizem A Kaya Ayse N Coşkun Vuslat Yılmaz Piraye Oflazer Yeşim Gülsen-Parman Fikret Aysal Rian Disci Haner Direskeneli Alexander Marx Feza Deymeer Güher Saruhan-Direskeneli The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey. PLoS ONE |
| title | The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey. |
| title_full | The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey. |
| title_fullStr | The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey. |
| title_full_unstemmed | The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey. |
| title_short | The association of PTPN22 R620W polymorphism is stronger with late-onset AChR-myasthenia gravis in Turkey. |
| title_sort | association of ptpn22 r620w polymorphism is stronger with late onset achr myasthenia gravis in turkey |
| url | http://europepmc.org/articles/PMC4132102?pdf=render |
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