BLK and BANK1 variants and interactions are associated with susceptibility for primary Sjögren's syndrome and with some clinical features
| Autor: | Claudia Hübbe-Tena, Ivonne Leticia Reyes-Cetina, Samantha Lara-García, Kerly Janina Cruz-Mayor, Ana Sánchez-Tlapalcoyoatl, Gabriela Hernández-Molina, Ivonne Arenas-Silva, Maribel De Anda-Turati, Rashel Cheja-Kalb, Rosa Elda Barbosa-Cobos, Julian Ramírez-Bello, José Manuel Fragoso, Luz Elena Concha del Río, Carlos Cabello-Gutierrez, Guadalupe Lima, Isela Montúfar-Robles, Gilberto Vargas-Alarcón, Jorge Flavio Mendoza-Rincón |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Genotype Immunology Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Serology Arthritis Rheumatoid 03 medical and health sciences 0302 clinical medicine Gene Frequency Humans Genetic Predisposition to Disease Allele Mexico Adaptor Proteins Signal Transducing Aged Genetic interaction Membrane Proteins Middle Aged SNP genotyping 030104 developmental biology Sjogren's Syndrome src-Family Kinases Case-Control Studies Dominant model Female Sjogren s 030215 immunology |
| Zdroj: | Cellular immunology. 363 |
| ISSN: | 1090-2163 |
| Popis: | BLK and BANK1 in primary Sjögren's syndrome (pSS) have scarcely been evaluated and the results are inconclusive. The aim of our study was to determine whether single nucleotide variants (SNVs) located within BLK or BANK1 are associated with susceptibility, clinical and serological features, and smoking in pSS. BLK rs13277113A/G, BANK1 rs10516487G/A and rs3733197G/A were genotyped in 203 cases and 424 controls using a TaqMan® SNP genotyping assay. The BLK rs13277113A allele showed association with pSS under the allelic (OR 1.35, p = 0.02), and recessive (OR 1.83, p = 0.003) model, while, BANK1 rs3733197G/A showed association under the dominant model (OR 2.90, p = 0.043). Interactions between BANK1 and BLK genotypes also showed association (OR 2.36, p 0.0001). In addition, BLK rs13277113A/G was associated with protection against arthritis and BANK1 rs10516487G/A with both arthritis and keratoconjunctivitis sicca, meanwhile, BANK1 rs3733197G/A was associated with smoking in patients with pSS. This is the first study to describe an association between BLK and susceptibility to pSS in a Latin-American population. Our data also shows a first evidence of association between interactions of BLK and BANK1 in pSS, and association of BLK and BANK1with arthritis, keratoconjunctivitis sicca and smoking in patients with pSS. |
| Databáze: | OpenAIRE |
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