Isela Montúfar-Robles1, María Elena Soto2, Silvia Jiménez-Morales3, Ricardo Gamboa2, Claudia Huesca-Gómez2, Julian Ramírez-Bello4. 1. Unidad de Investigación, Hospital Juárez de México, México City, Mexico. 2. Departamento de Inmunología, Instituto Nacional de Cardiología Ignacio Chávez, México City, Mexico. 3. Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Mexico City, Mexico. 4. Unidad de Investigación, Hospital Juárez de México, México City, Mexico. Electronic address: dr.julian.ramirez.hjm@gmail.com.
Abstract
BACKGROUND: Takayasu arteritis (TAK) is considered a rare disease characterized by nonspecific inflammation of the large arteries, especially the aorta and its major branches. Because TAK is an autoimmune disease (AD), it could share susceptibility loci with other pathologies such as systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA), among others. Widely explored polymorphisms in non-HLA genes, including TNFAIP3, STAT4, TNFSF4, BANK1, and BLK have been consistently associated with both SLE and RA, but they have not been evaluated in TAK. OBJECTIVE: The aim of our study was to investigate whether TNFAIP3, STAT4, BANK1, BLK, and TNFSF4 polymorphisms are associated with susceptibility to TAK. METHODS: The TNFAIP3 rs2230926T/G and rs5029924C/T, STAT4 rs7574865G/T, BANK1 10516487G/A, BLK rs2736340T/C, rs13277113A/G, and TNFS4 rs2205960G/T polymorphisms were genotyped in 101 cases and 276 controls by using a TaqMan SNP genotyping assay. An association analysis was performed. RESULTS: The TNFAIP3 rs2230926T/G and rs5029924C/T polymorphisms were in complete linkage disequilibrium and turned out to be risk factors for TAK (OR = 4.88, p = 0.0001). The STAT4, BANK1, BLK, and TNFSF4 polymorphisms were not associated with the disease. CONCLUSIONS: This is the first study documenting an association of TNFAIP3 rs2230926T/G and rs5029924C/T with TAK. Our results provide new information on the genetic bases of TAK.
BACKGROUND:Takayasu arteritis (TAK) is considered a rare disease characterized by nonspecific inflammation of the large arteries, especially the aorta and its major branches. Because TAK is an autoimmune disease (AD), it could share susceptibility loci with other pathologies such as systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA), among others. Widely explored polymorphisms in non-HLA genes, including TNFAIP3, STAT4, TNFSF4, BANK1, and BLK have been consistently associated with both SLE and RA, but they have not been evaluated in TAK. OBJECTIVE: The aim of our study was to investigate whether TNFAIP3, STAT4, BANK1, BLK, and TNFSF4 polymorphisms are associated with susceptibility to TAK. METHODS: The TNFAIP3 rs2230926T/G and rs5029924C/T, STAT4 rs7574865G/T, BANK110516487G/A, BLK rs2736340T/C, rs13277113A/G, and TNFS4 rs2205960G/T polymorphisms were genotyped in 101 cases and 276 controls by using a TaqMan SNP genotyping assay. An association analysis was performed. RESULTS: The TNFAIP3 rs2230926T/G and rs5029924C/T polymorphisms were in complete linkage disequilibrium and turned out to be risk factors for TAK (OR = 4.88, p = 0.0001). The STAT4, BANK1, BLK, and TNFSF4 polymorphisms were not associated with the disease. CONCLUSIONS: This is the first study documenting an association of TNFAIP3 rs2230926T/G and rs5029924C/T with TAK. Our results provide new information on the genetic bases of TAK.
Authors: Joao Carlos Batista Liz; Fernanda Genre; Verónica Pulito-Cueto; Sara Remuzgo-Martínez; Diana Prieto-Peña; Ana Márquez; Norberto Ortego-Centeno; María Teresa Leonardo; Ana Peñalba; Javier Narváez; Luis Martín-Penagos; Lara Belmar-Vega; Cristina Gómez-Fernández; José A Miranda-Filloy; Luis Caminal-Montero; Paz Collado; Diego De Árgila; Patricia Quiroga-Colina; Esther F Vicente-Rabaneda; Ana Triguero-Martínez; Esteban Rubio; Manuel León Luque; Juan María Blanco-Madrigal; Eva Galíndez-Agirregoikoa; Javier Martín; Oreste Gualillo; Ricardo Blanco; Santos Castañeda; Miguel A González-Gay; Raquel López-Mejías Journal: J Clin Med Date: 2022-09-22 Impact factor: 4.964