The functional PTPN22 C1858T polymorphism confers risk for rheumatoid arthritis in patients from Central Mexico

Rheumatoid arthritis (RA) is a complex genetic disease. Human leukocyte antigen (HLA) and non-HLA genes are reportedly associated with an increased risk of RA. The protein tyrosine phosphatase non-receptor 22 gene ( PTPN22 ), which encodes the lymphoid tyrosine phosphatase (LYP) protein, is one of t...

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Bibliographic Details
Published in:Clinical rheumatology 2016-06, Vol.35 (6), p.1457-1462
Main Authors: Rincón, J. F. Mendoza, Cano, D. López, Morales, S. Jiménez, Jiménez, M. L. Rivas, Cobos, R. E. Barbosa, Bello, J. Ramírez
Format: Article
Language:English
Subjects:
Adult
Aged
Alleles
Arthritis, Rheumatoid - epidemiology
Arthritis, Rheumatoid - genetics
Case-Control Studies
Female
Gene Frequency
Genetic Predisposition to Disease
Humans
Male
Medicine
Medicine & Public Health
Mexico
Middle Aged
Odds Ratio
Original Article
Polymorphism, Single Nucleotide
Protein Tyrosine Phosphatase, Non-Receptor Type 22 - genetics
Rheumatology
Risk Factors
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Summary:Rheumatoid arthritis (RA) is a complex genetic disease. Human leukocyte antigen (HLA) and non-HLA genes are reportedly associated with an increased risk of RA. The protein tyrosine phosphatase non-receptor 22 gene ( PTPN22 ), which encodes the lymphoid tyrosine phosphatase (LYP) protein, is one of the best examples of a non-HLA gene associated with a risk for RA in several populations. The functional PTPN22 C1858T (R620W) non-synonymous polymorphism is widely associated with an increased risk for RA in Europeans and non-Europeans. The aim of this study was to determine if the PTPN22 C1858T polymorphism confers susceptibility to RA in a sample of patients from Mexico. This study included 364 RA patients and 387 non-related controls from Central Mexico. Genotyping of the PTPN22 C1858T (rs2476601) polymorphism was performed using allelic discrimination assays with TaqMan probes. The functional PTPN22 C1858T polymorphism was associated with an increased risk for RA in our study population. The CC vs CT genotype in RA patients versus healthy controls had an odds ratio (OR) of 4.17 (95 % CI 1.79–9.74, p  = 0.00036), while T allele had an OR of 4.06 (95 % CI 1.75–9.41, p  = 0.00043). PTPN22 is a genetic risk factor for developing RA in the Mexican population.
ISSN:0770-3198
1434-9949
DOI:10.1007/s10067-016-3223-z