Julian Ramírez-Bello1, Silvia Jiménez-Morales2, Isela Montufar-Robles3, José M Fragoso4, Rosa Elda Barbosa-Cobos5, Miguel A Saavedra6, Fausto Sánchez-Muñoz7. 1. Unidad de Investigación en Enfermedades, Metabólicas y Endócrinas, Hospital Juárez de México, Av Instituto Politécnico Nacional 5160, Magdalena de las Salinas, 07760, Mexico City, Mexico. dr.julian.ramirez.hjm@gmail.com. 2. Laboratorio de Genómica del Cáncer, Instituto Nacional de Medicina Genómica, Mexico City, Mexico. 3. Unidad de Investigación en Enfermedades, Metabólicas y Endócrinas, Hospital Juárez de México, Av Instituto Politécnico Nacional 5160, Magdalena de las Salinas, 07760, Mexico City, Mexico. 4. Laboratorio de Biología Molecular, Instituto Nacional de Cardiología, Mexico City, Mexico. 5. Servicio de Reumatología, Hospital Juárez de México, Mexico City, Mexico. 6. Servicio de Reumatología, Centro Médico Nacional "La Raza", Instituto Mexicano del Seguro Social, Mexico City, Mexico. 7. Laboratorio de Inmunología, Instituto Nacional de Cardiología, Mexico City, Mexico.
Abstract
OBJECTIVES: The BLK and BANK1 genes have been consistently associated with systemic lupus erythematosus (SLE), primarily in European or Asian-derived populations. However, this finding has not been replicated in Latin-American patients. METHODS: Our study included 881 women from Mexico: 487 healthy controls and 394 SLE patients. The BLK rs13277113A/G-rs2736340T/C as well as BANK1 rs10516487G/A (R61H)-rs3733197G/A (A383T) single nucleotide polymorphisms (SNPs) were evaluated using a TaqMan® SNP genotyping assay. RESULTS: Our data showed that the BLK rs2736340T/C and rs13277113A/G polymorphisms are associated with susceptibility to SLE (C vs T, OR 1.60, p = 2×10-5; G vs A, OR 1.53, p = 9 × 10-5, respectively). We also identified an association between the functional BANK1 R61H polymorphism and SLE (A vs G, OR 1.56, p = 0.002). In addition, we observed a genetic interaction between BLK (rs2736340T/C, rs13277113A/G) and BANK1 (R61H and A383T) associated with susceptibility to SLE. CONCLUSION: This is the first study documenting an association between BLK and BANK1 and SLE in a Latin-American population. Our data confirm previous reports: BLK and BANK1 are factors associated with SLE. Thus, both genes are universal loci for this autoimmune disease.
OBJECTIVES: The BLK and BANK1 genes have been consistently associated with systemic lupus erythematosus (SLE), primarily in European or Asian-derived populations. However, this finding has not been replicated in Latin-American patients. METHODS: Our study included 881 women from Mexico: 487 healthy controls and 394 SLEpatients. The BLK rs13277113A/G-rs2736340T/C as well as BANK1 rs10516487G/A (R61H)-rs3733197G/A (A383T) single nucleotide polymorphisms (SNPs) were evaluated using a TaqMan® SNP genotyping assay. RESULTS: Our data showed that the BLK rs2736340T/C and rs13277113A/G polymorphisms are associated with susceptibility to SLE (C vs T, OR 1.60, p = 2×10-5; G vs A, OR 1.53, p = 9 × 10-5, respectively). We also identified an association between the functional BANK1R61H polymorphism and SLE (A vs G, OR 1.56, p = 0.002). In addition, we observed a genetic interaction between BLK (rs2736340T/C, rs13277113A/G) and BANK1 (R61H and A383T) associated with susceptibility to SLE. CONCLUSION: This is the first study documenting an association between BLK and BANK1 and SLE in a Latin-American population. Our data confirm previous reports: BLK and BANK1 are factors associated with SLE. Thus, both genes are universal loci for this autoimmune disease.
Authors: Karin Bolin; Juliana Imgenberg-Kreuz; Dag Leonard; Johanna K Sandling; Andrei Alexsson; Pascal Pucholt; Malena Loberg Haarhaus; Jonas Carlsson Almlöf; Joanne Nititham; Andreas Jönsen; Christopher Sjöwall; Anders A Bengtsson; Solbritt Rantapää-Dahlqvist; Elisabet Svenungsson; Iva Gunnarsson; Ann-Christine Syvänen; Karoline Lerang; Anne Troldborg; Anne Voss; Øyvind Molberg; Søren Jacobsen; Lindsey Criswell; Lars Rönnblom; Gunnel Nordmark Journal: Genes Immun Date: 2021-06-14 Impact factor: 2.676