Identification of HAVCR1 gene haplotypes associated with mRNA expression levels and susceptibility to autoimmune diseases |
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Authors: | José Raúl García-Lozano Cristina Abad Ana Escalera Belén Torres Olga Fernández Alicia García Julio Sánchez-Román José-Mario Sabio Norberto Ortego-Centeno Enrique Raya-Álvarez Antonio Núñez-Roldán Javier Martín María Francisca González-Escribano |
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Institution: | 1. Servicio de Inmunología, Instituto de Biomedicina, Hospital Universitario Virgen del Rocío, Avda Manuel Siurot s/n, 41013, Seville, Spain 2. Unidad de Reumatología, Hospital Universitario Virgen del Rocío, Seville, Spain 3. Servicio de Medicina Interna, Hospital Universitario Virgen del Rocío, Seville, Spain 7. Servicio de Medicina Interna, Hospital Virgen de las Nieves, Granada, Spain 4. Servicio de Medicina Interna, Hospital Clínico San Cecilio, Granada, Spain 5. Servicio de Reumatología, Hospital Clínico San Cecilio, Granada, Spain 6. Instituto de Parasitología y Biomedicina “López Neyra”, CSIC, Granada, Spain
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Abstract: | Human HAVCR1 gene maps on 5q33.2, a region linked with susceptibility to allergic and autoimmune diseases. The aims of the present study were to define the haplotypes of HAVCR1 gene taking into account both HapMap Project SNP haplotypes and exon 4 variants, to investigate a possible relationship between these haplotypes and mRNA expression levels, and to assess whether HAVCR1 gene is involved in susceptibility to rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). Genotyping of three ins/del variants in the exon 4 was performed by fragment length analysis. Five tag SNPs genotypes and mRNA levels were determined using TaqMan assays. We defined four major haplotypes in our population: the two major haplotypes (named haplotypes A and B) bear both the 5383_5397del variant and the two most common SNP sets found in the CEU population. Quantification analysis revealed that genotype B/B had the highest median of mRNA expression levels (vs. BX + XX, p < 0.0001). Additionally, frequency of the genotype BB was significantly higher in RA patients than in controls (12.3 vs. 5.9% in controls, p = 0.0046, p c = 0.014, OR = 2.23, 95% CI 1.23–4.10). Our results support a relationship between HAVCR1 haplotypes and mRNA expression levels, and suggest an association of this gene with autoimmune diseases. |
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