Identification of HAVCR1 gene haplotypes associated with mRNA expression levels and susceptibility to autoimmune diseases
| Autor: | María Francisca González-Escribano, Olga Fernández, Enrique Raya-Alvarez, Julio Sánchez-Román, José-Mario Sabio, Belén Torres, Norberto Ortego-Centeno, Antonio Núñez-Roldán, Alicia García, Ana Escalera, Cristina Abad, Javier Martín, José Raúl García-Lozano |
|---|---|
| Rok vydání: | 2010 |
| Předmět: |
Genotype
Biochemical Phenomena Population Single-nucleotide polymorphism Immunologic Tests Biology Polymorphism Single Nucleotide Autoimmune Diseases Arthritis Rheumatoid Exon Genetics Humans Lupus Erythematosus Systemic RNA Messenger International HapMap Project education Genotyping Physiological Phenomena Genetics (clinical) education.field_of_study Haplotype Exons Haplotypes HAVCR1 Gene Disease Susceptibility |
| Zdroj: | Human Genetics. 128:221-229 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s00439-010-0844-1 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink