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Inflamm Res. 2019 Mar;68(3):195-201. doi: 10.1007/s00011-018-1204-1. Epub 2018 Nov 23.

An association study in PTPN22 suggests that is a risk factor to Takayasu's arteritis.

Author information

1
Departamento de Inmunología, Instituto Nacional de Cardiología "Ignacio Chávez", Mexico City, Mexico.
2
Unidad de Investigación en Enfermedades Metabólicas y Endócrinas, Hospital Juárez de México, Av. Instituto Politécnico Nacional No. 5160, Delegación Gustavo A. Madero, C.P. 07760, Mexico City, DF, Mexico.
3
Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
4
Departamento de Fisiología, Instituto Nacional de Cardiología "Ignacio Chávez", Mexico City, Mexico.
5
Unidad de Investigación en Enfermedades Metabólicas y Endócrinas, Hospital Juárez de México, Av. Instituto Politécnico Nacional No. 5160, Delegación Gustavo A. Madero, C.P. 07760, Mexico City, DF, Mexico. dr.julian.ramirez.hjm@gmail.com.

Abstract

OBJECTIVES:

Takayasu's arteritis (TA) represents a rare autoimmune disease (AD) characterized by systemic vasculitis that primarily affects large arteries, especially the aorta and the aortic arch and its main branches. Genetic components in TA are largely unknown. PTPN22 is a susceptibility loci for different ADs; however, the role of different PTPN22 single-nucleotide polymorphisms (SNPs) in the susceptibility to TA is not clear.

METHODS:

We evaluated the PTPN22 R620W (C1858T), R263Q (G788A), and - 123G/C SNPs in a group of patients with TA and in healthy individuals from Mexico. Our study included 111 patients with TA and 314 healthy individuals. Genotyping was performed with the 5' exonuclease (TaqMan®) assay.

RESULTS:

Our data showed that the PTPN22 R620W polymorphism is a risk factor for TA (CC vs. CT: OR 4.3, p = 0.002, and C vs. T: OR 4.1, p = 0.003); however, the PTPN22 R263Q and - 1123G/C polymorphisms are not associated with this AD. In addition, the PTPN22 CGT haplotype, which carries the minor allele of the PTPN22 C1858T variant, was also associated with TA susceptibility.

CONCLUSION:

This is the first report documenting an association between PTPN22 R620W and TA.

KEYWORDS:

PTPN22; R620W; Single nucleotide polymorphism; Susceptibility; Takayasu’s arteritis

PMID:
30470857
DOI:
10.1007/s00011-018-1204-1

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