José Raúl García-Lozano

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INTRODUCTION According to genome wide association (GWA) studies as well as candidate gene approaches, Behçet's disease (BD) is associated with human leukocyte antigen (HLA)-A and HLA-B gene regions. The HLA-B51 has been consistently associated with the disease, but the role of other HLA class I molecules remains controversial. Recently, variants in non-HLA(More)
BACKGROUND Hepatitis C virus (HCV) is associated with a higher prevalence of steatosis compared to the general population. AIM Our aim was to assess the impact of PNPLA3 rs738409 G-allele on steatosis in HCV patients. MATERIAL AND METHODS We included 474 HCV patients treated with peginterferon plus ribavirin. PNPLA3 rs738409 was genotyped and patients(More)
We studied a 57-year-old female patient with clinical and biochemical evidences of McArdle's disease. Her muscle biopsy also revealed signs of mitochondrial proliferation, scattered RRF, and a deficit in complex I of the respiratory chain. Molecular genetic analysis showed that the patient was heterozygous for the most common mutation at codon 49 in the(More)
Behçet's disease (BD) is a multifactorial disorder associated with the HLA region. Recently, the ERAP1 gene has been proposed as a susceptibility locus with a recessive model and with epistatic interaction with HLA-B51. ERAP1 trims peptides in the endoplasmic reticulum to optimize their length for MHC-I binding. Polymorphisms in this gene have been related(More)
OBJECTIVES To determine whether the mitochondrial DNA (mtDNA) A4336G mutation represents a risk factor for Spanish patients with both Alzheimer's disease (AD) and Parkinson's disease (PD). MATERIAL AND METHODS One hundred and sixty-one AD and 106 PD unrelated patients were included in the study. Seventy-eight age-matched and 144 randomly chosen healthy(More)
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