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Mol Biol Rep (2011) 38:53935396 DOI 10.1007/s11033-011-0692-7
No association of PTPN22 R620 W gene polymorphismwith rheumatic heart disease and systemic lupus erythematosus
Rahime Aksoy Trker Duman Onur Keskin
Nursen Dzgn
Received: 14 July 2010 / Accepted: 26 February 2011 / Published online: 8 March 2011 Springer Science+Business Media B.V. 2011
Abstract Rheumatic heart disease (RHD) or acute rheumatic fever (ARF) develops as a consequence of an exaggerated immune response to Group A beta haemolytic streptococci causing pharyngitis. The molecular mimicry appears between human cardiac myosin and M protein of group A streptococcal membranes. The polymorphism of the protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene, which encodes an important negative regulator of T cell activation, has been reported to be associated with susceptibility to several autoimmune diseases such as SLE and RA. The objective of this study was to investigate whether PTPN22 R620W polymorphism confers susceptibility to RHD in Turkish population. PTPN 22 R620W (rs2476601, A/G) polymorphism was genotyped by PCR-RFLP in 121 patients with RHD who fullling the revised classication criteria of Jones, and 160 healthy control (HC), and also 137 SLE as a diseasedcontrol. The frequency of GG and AG genotypes were found to be 94% (114), 6% (7) in RHD, respectively and 96% (153) and 4% (7) in HC, respectively.
The homozygous AA genotype was not present in RHD and HC. There was no statistically signicant difference between RHD and HC according to the frequency of AG heterozygote genotype (P = 0.831; OR = 1.13; 95% CI 0.373.46). The frequency of the rare allele A was also very similar in RHD patients and HC (3, 2% respectively). A similar result was also found between SLE and HC. Our results demonstrated that the PTPN22 R620W polymorphism is not associated with RHD nor with SLE in Turkish population.
Keywords Rheumatic heart disease Systemic lupus
erythematosus PTPN22 polymorphism Autoimmunity
Genetic
Introduction
Acute rheumatic fever (ARF) is immunologically an induced disease by beta hemolytic strains of streptococcus A causing acute pharyngitis, depending on the immunogenic M structure of the bacteria as well as on the genetic determined reaction of the host. The molecular mimicry appears between human target organs or tissues such as human cardiac myosin and M protein of the infectious organism. Subsequently, molecular mimicry causes...