[HLA polymorphism and Behçet's disease in Moroccan population]
N Bennani1, O Atouf, N Benseffaj
1Unité d'immunologie, service de transfusion sanguine et d'hémovigilance, hôpital Ibn Sina, CHU de Rabat, Rabat, Maroc. pegy_nai@yahoo.fr
Pathologie-Biologie
|November 29, 2008
Summary
The HLA-B51 allele is strongly associated with Behçet disease in the Moroccan population. Other human leukocyte antigen (HLA) alleles may influence susceptibility or protection against this inflammatory condition.
Area of Science:
- Immunogenetics
- Human Leukocyte Antigen (HLA) complex
- Autoimmune diseases
Context:
- Behçet disease is a multisystemic inflammatory disorder with a complex etiology.
- Genetic factors, particularly HLA alleles, are known to influence susceptibility to Behçet disease.
- The Moroccan population represents a distinct genetic background for studying HLA associations.
Purpose:
- To investigate the association between specific human leukocyte antigen (HLA) class I and II alleles and Behçet disease in a Moroccan cohort.
- To determine the correlation of HLA allele distribution with clinical manifestations and sex in patients with Behçet disease.
Summary:
- The study identified HLA-B51 as a significant predisposing allele for Behçet disease in Moroccans, with specific alleles like -A2, -B5102, -B58, and -B72 also showing predisposition.
- Conversely, alleles A23, -A33, -B18, -B41, and -B49 demonstrated a negative correlation, suggesting a protective role.
- Sex-specific associations were observed, with alleles A2 and -B72 linked to males, and -A68 and -B58 to females, while -B51 and -B5102 were associated with both genders.
- Clinical manifestations were linked to specific alleles: B51 with mucous issues, B72 with vasculitis, and B58 with cutaneous symptoms.
- The haplotype A2-B51 showed a strong positive correlation with Behçet disease.
- No significant association was found for DRB1* alleles, but DQB1*02 appeared to offer protection.
Impact:
- This research elucidates the specific genetic landscape of Behçet disease in the Moroccan population, highlighting the crucial role of HLA-B51.
- Findings contribute to understanding the genetic underpinnings of Behçet disease, potentially aiding in risk stratification and personalized medicine approaches.
- Identifies potential genetic markers for disease susceptibility and protection, paving the way for further etiological research.
Related Concept Videos
Malaria
Malaria pathogenesis in humans reflects a delicate interplay between parasite biology and host response. Clinical illness reflects a host’s immune response to the parasite’s asexual replication cycle, which is often asymptomatic in individuals with partial immunity. From the parasite's perspective, transmission between mosquito and human with minimal host pathology is evolutionarily advantageous. Among the six Plasmodium species infecting humans, P. falciparum and P. vivax dominate in global...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Leishmaniasis
Leishmaniasis is a protozoal disease caused by species of the genus Leishmania and transmitted through the bite of infected female sandflies. The parasite exists in two principal morphological forms during its life cycle. A sandfly acquires intracellular amastigotes from an infected reservoir host, such as a dog. Within the sandfly, these forms differentiate into motile, flagellated promastigotes. During a subsequent blood meal, promastigotes are injected into the human host, where they...
Genetic Lingo
Overview
Amebiasis
Entamoeba histolytica, a protozoan parasite, is responsible for intestinal and extraintestinal amebiasis. Though a significant proportion of infections remain asymptomatic, approximately 50 million individuals annually are estimated to present with clinical disease, resulting in up to 100,000 deaths globally. The disease burden is disproportionately high in regions with lower socioeconomic status, such as parts of India, Africa, Mexico, and Latin America.Etiology and TransmissionThe infective...
