Association of the PTPN22 gene polymorphism with autoantibody positivity in Turkish rheumatoid arthritis patients.
Summary of "Association of the PTPN22 gene polymorphism with autoantibody positivity in Turkish rheumatoid arthritis patients."
The PTPN22 C1858T gene polymorphism has been recently reported to be associated with rheumatoid arthritis (RA) in European and North American ancestry. In contrast, the frequency of PTPN22 C1858T polymorphism is extremely rare in Asian and African populations. As the genetic heterogeneity between populations is clearly present in RA, we wanted to investigate whether the PTPN22 C1858T polymorphism is associated with RA in Turkey and with autoantibody positivity. A total of 323 RA patients and 426 healthy controls were genotyped by polymerase chain reaction restriction fragment length polymorphism for the PTPN22 C1858T polymorphism (rs2476601). The frequencies of heterozygote genotype (CT) were 8.4% in RA patients and 5.4% in the healthy controls, respectively [odds ratio (OR): 1.6, P = 0.14]. The homozygote genotype (T/T) was absent in both RA patients and the healthy controls. When compared with the healthy controls, we found the significant associations between the frequency of PTPN22 heterozygote (CT) polymorphism and RA patients with RF positivity and anti-CCP positivity, respectively (
OR:
2.05, P = 0.04 and
OR:
2.1, P = 0.03, respectively). Our study suggests that the PTPN22 C1858T polymorphism acts as a susceptibility gene for autoantibody-positive RA in Turkey.
Affiliation
Department of Rheumatology, Ankara Numune Training and Research Hospital, Ankara, Turkey Institute of Hepatology, Ankara University, Ankara, Turkey Department of Microbiology, Ankara Numune Training and Research Hospital, Ankara, Turkey Refgen Biotechnolo
Journal Details
This article was published in the following journal.
Name: Tissue antigens
ISSN: 1399-0039
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21506938
- DOI: http://dx.doi.org/10.1111/j.1399-0039.2011.01675.x
Medical and Biotech [MESH] Definitions
Complement C3 Nephritic Factor
An IgG autoantibody against the ALTERNATIVE PATHWAY C3 CONVERTASE, found in serum of patients with MESANGIOCAPILLARY GLOMERULONEPHRITIS. The binding of this autoantibody to C3bBb stabilizes the enzyme thus reduces the actions of C3b inactivators (COMPLEMENT FACTOR H; COMPLEMENT FACTOR I). This abnormally stabilized enzyme induces a continuous COMPLEMENT ACTIVATION and generation of C3b thereby promoting the assembly of MEMBRANE ATTACK COMPLEX and cytolysis.
Polymorphism, Genetic
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Gene Dosage
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Ribotyping
RESTRICTION FRAGMENT LENGTH POLYMORPHISM analysis of rRNA genes that is used for differentiating between species or strains.
Gene Knockout Techniques
Techniques to alter a gene sequence that result in an inactivated gene, or one in which the expression can be inactivated at a chosen time during development to study the loss of function of a gene.
PubMed Articles
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 mimi...
The protein tyrosine phosphatase nonreceptor 22 gene (PTPN22) is an important negative regulator of signal transduction through the T-cell receptors (TCR). Recently a single-nucleotide polymorphism (S...
In this work, we proposed to determine the association of the PTPN22*R620W SNP with primary antiphospholipid syndrome (PAPS) in a case-control association study of Spanish Caucasian individuals. A tot...
Recently, a functional PTPN22 variant (R263Q; rs33996649) was found to be associated with systemic lupus erythematosus (SLE). This study was undertaken to analyze the influence of this polymorphism on...
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a strong susceptibility gene shared by many autoimmune diseases. The aim of this study was to explore the mechanisms underlying this relat...
Clinical Trials
1. To investigate the relationship between arsenic methylation enzymes (AS3MT, PNP,GSTO1, and GSTO2) genetic polymorphism and UC risk. 2. To explore the relationship between cigare...
Age related macular degeneration (AMD) is a multifactorial disease with a strong genetic component. Most importantly a genetic polymorphism in the gene encoding for the complement factor H...
Age related macular degeneration (AMD) is a multifactorial disease with a strong genetic component. Most importantly a genetic polymorphism in the gene encoding for the complement factor H...
Gustin Gene Polymorphism and 6-n-propylthiouracil (PROP) Taste
The investigators investigate the possible association of PROP taste with gustin gene polymorphism rs2274333 (A/G), salivary zinc ion concentration and BMI.
Autoantibody Blood Test in Finding Metastasis in Patients With Localized or Metastatic Kidney Cancer
RATIONALE: Studying specific autoantibodies in blood samples from patients with cancer may help doctors find metastasis and help plan cancer treatment. PURPOSE: This clinical trial is stu...
