PTPN22 gene polymorphism in Takayasu's arteritis

Objective. Takayasu's arteritis (TA) is a chronic, rare granulomatous panarteritis of unknown aetiology involving mainly the aorta and its major branches. In this study, genetic susceptibility to TA has been investigated by screening the functional single nucleotide polymorphism (SNP) of PTPN22 gene encoding the lymphoid-specific protein tyrosine phosphatase. Methods. Totally, 181 patients with TA and 177 healthy controls are genotyped by PCR-RFLP method for the SNP rs2476601 (A/G) of PTPN22 gene. Polymorphic region was amplified by PCR and digested with Xcm I enzyme. Results. Detected frequencies of heterozygous genotype (AG) were 5.1% (9/177) in control group and 3.8% (7/181) in TA group (P = 0.61, odds ratio: 0.75, 95% CI: 0.3, 2.0). No association with angiographic type, vascular involvement or prognosis of TA was observed either. Conclusion. The distribution of PTPN22 polymorphism did not reveal any association with TA in Turkey. © The Author 2008. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved

Development Of Calciphylaxis After Long-Term Steroid And Methotroxate Use In A Patient With Rheumatoid Arthritis

Calciphylaxis may be considered a small vessel vasculopathy which is generaly associated with end-stage renal disease and hyperparathyroidism. The precise pathogenesis of the disease is not known. It needs sensitizers and challengers to occur. Steroids and immunosuppressive drugs including methotrexate are among those challenger agents. Calciphylaxis in collagen vascular diseases is rare. Only one case in rheumatoid arthritis was recently reported. Here we describe a case of calciphylaxis associated with active rheumatoid arthritis. This patient had active disease despite treatment of steroids and methotrexate for a long time. She died shortly after the diagnosis of calciphylaxis due to sepsis.WoSScopu

The impact of smoking on clinical features of Behçet's disease patients with glutathione s-transferase polymorphisms

PubMedID: 22766250Objective: Various cancer studies have suggested that polymorphism of GSTM1 may influence the ability to detoxify chemicals in cigarette smoke. In the present study the effect of smoking on clinical features of Behçet's disease were investigated in patients having GST-M1 and/or -T1 null polymorphisms. Methods: Ninety-seven patients meeting International Study Group Criteria for Behçet' Disease (63 male, 34 female) and 172 healthy controls (94 male, 78 female) were included into the study. GST-M1 and -T1 polymorphisms were investigated using polymerase chain reaction-restriction fragment length polymorphism technique. Results: Frequency of GSTM1- and/or GSTT1-null polymorphisms were comparable between the Behçet and the control groups. Smoking patients with GSTM1 null-polymorphism have decreased risk of developing papulopustuler lesions (OR=0.227 [0.063-0.818], ?2=5.463, p=0.019). Non-smoking patients with GSTM1 null-polymorphism has increased risk for having chronic arthritis (OR=5.988 [0.845-43.478]) but smoking patients with GSTM1 nullpolymorphism have decreased risk (OR=0.741 [0.593-0.926]). GSTT1 null-polymorphism is associated with the presence of venous insufficiency (?2=6.273, p=0.012, OR=2.740 [1.224- 6.135]); smoking further increases the risk (?2=7.840, OR=3.333 [1.412- 7.874], p=0.005). GSTM1 null-polymorphism seemed to effect development of large vessel vasculitis (OR=1.158 [0.981-1.367], ?2=4.760, p=0.029). Male smoker Behçet patients even have more risk (OR=1.250 [0.971-1.610]). Conclusion: Several manifestations of Behçet's disease may be influenced by smoking, and this effect can be augmented in patients carrying GST gene polymorphism, which code enzymes crucial for the detoxification of chemicals. © Clinical and Experimental Rheumatology 2012

PTPN22 gene polymorphism in Takayasu's arteritis

PubMedID: 18375974Objective. Takayasu's arteritis (TA) is a chronic, rare granulomatous panarteritis of unknown aetiology involving mainly the aorta and its major branches. In this study, genetic susceptibility to TA has been investigated by screening the functional single nucleotide polymorphism (SNP) of PTPN22 gene encoding the lymphoid-specific protein tyrosine phosphatase. Methods. Totally, 181 patients with TA and 177 healthy controls are genotyped by PCR-RFLP method for the SNP rs2476601 (A/G) of PTPN22 gene. Polymorphic region was amplified by PCR and digested with Xcm I enzyme. Results. Detected frequencies of heterozygous genotype (AG) were 5.1% (9/177) in control group and 3.8% (7/181) in TA group (P = 0.61, odds ratio: 0.75, 95% CI: 0.3, 2.0). No association with angiographic type, vascular involvement or prognosis of TA was observed either. Conclusion. The distribution of PTPN22 polymorphism did not reveal any association with TA in Turkey. © The Author 2008. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.SAG-YYP/0007-15/01/ 2007 British Association for PsychopharmacologyFunding: The study is supported by Marmara University Scientific Research Fund (BAPKO) (project no: SAG-YYP/0007-15/01/ 2007) and Istanbul University Research Fund (BAP)

Frequency Of Lymphadenopathy In Rheumatoid Arthritis And Systemic Lupus Erythematosus

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Skewed X chromosome inactivation in scleroderma: Comment on the article by Özbalkan et al [4] (multiple letters)

PubMedID: 16258909[No abstract available

PTPN22 gene polymorphism in Takayasu's arteritis

PubMed ID: 18375974Objective. Takayasu's arteritis (TA) is a chronic, rare granulomatous panarteritis of unknown aetiology involving mainly the aorta and its major branches. In this study, genetic susceptibility to TA has been investigated by screening the functional single nucleotide polymorphism (SNP) of PTPN22 gene encoding the lymphoid-specific protein tyrosine phosphatase. Methods. Totally, 181 patients with TA and 177 healthy controls are genotyped by PCR-RFLP method for the SNP rs2476601 (A/G) of PTPN22 gene. Polymorphic region was amplified by PCR and digested with Xcm I enzyme. Results. Detected frequencies of heterozygous genotype (AG) were 5.1% (9/177) in control group and 3.8% (7/181) in TA group (P = 0.61, odds ratio: 0.75, 95% CI: 0.3, 2.0). No association with angiographic type, vascular involvement or prognosis of TA was observed either. Conclusion. The distribution of PTPN22 polymorphism did not reveal any association with TA in Turkey. © The Author 2008. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved.SAG-YYP/0007-15/01/ 2007 British Association for PsychopharmacologyFunding: The study is supported by Marmara University Scientific Research Fund (BAPKO) (project no: SAG-YYP/0007-15/01/ 2007) and Istanbul University Research Fund (BAP). -