Relationship Association of HLA-B51 Genotype With Bechets Disease Clinical Characteristics

Published: 2021-07-02
1880 words
7 pages
16 min to read
Harvey Mudd College
Type of paper: 
Literature review
This essay has been submitted by a student. This is not an example of the work written by our professional essay writers.

Introduction: The research involves a study conducted with an aim to investigate the relationship association of HLA-B51 genotype with Bechets disease clinical characteristics in the population living in the Northern Europe. The analysis conducted laid down the background information of the Bechet's disease and how it is connected or associated with the allele known as HLA-B51. Bechet's disease is known to be chronic, and it affects the population of a particular ethnicity and ancestry. Its characterization of phenotypic variation in its clinical characteristics like genital ulcers, eye, joint, and skin involvement has caused the link of the sub allele that splinted from HLA-B5 forming a predominantly HLA-B51.

Background: The review of the literature on its background was made on a different publication based on the study and assessment that different scientists conducted and concluded.

Methodology: The methodology was hinged on a deductive approach in which the information was thoroughly reviewed from relevant sources, results and findings related to each other and the points of commonalities and differences used to deduce a conclusion for this study. Thereby, four major studies tackling major countries in Northern Europe were considered and used to provide a major framework of the entire study region.

Discussion: The HLA-B51 antigen was conclusively associated with the disease where major clinical characteristics of the disease were gathered to be oral ulcers, genital ulcers, skin lesions and positive pathergy test with ethnicity and age being among the factors that affected the prevalence.

Conclusion: In conclusion, the study identified that HLA-B51 plays a great role in the pathogenesis of Behcets diseases although it cannot be used for organ involvement and its occurrence



Behcets disease is an inflammatory, multisystem disorder that is very rare but also very chronic since it occurs on the vasculitis of arteries and veins. It is characterized by the recurrent oral ulcers and genital ulcers and other multisystem features. BD clusters in an area that even extends to the far Eastern Asia and the Mediterranean basin. There have been numerous scholars who have presented evidence suggesting that the host genetic factor plays a pivotal role in identifying the vulnerability of the BD [3]. It has been identified that the Behcets disease has been associating with HLA-B5 and most importantly with the HLA-B51 which is the split of the HLA-B5 antigen. An actual variability of the relationship of HLA-B51 with BD can be found to exist over people with more different ethnicities or even in the clinical subtypes of BD.

Behcets disease is presumed to be an autoimmune disease and it includes the involvement of the mucocutaneous, cardiovascular, renal, musculoskeletal, and urological and the central nervous system. The prevalence of the disease in the northern Europe have not been more, but they are more often described in the migration population though not very exclusively. HLA-B51 accounts for 20% of the genetic risk even in the cases that are familiar, therefore indicating that other genetic factors are still yet to be discovered. The disease affects patients who are aged 20-30 years, but if the age of onset is below 25 years, the association is made with a high prevalence of eye disease and active clinical disease [5]. Both female and male have got an equal chance of being affected, but nevertheless, men tend to have a more active form of disease.

BD has got a protean nature whose manifestation leads to a lot of questions on whether HLA-B51 has a mandatory effect on the expression of the disease. It is considered that BD patients with positive and negative HLA-B51 differed in the former more frequently developed Central Nervous System o in the eye involvement. The patients who harbor the HLA-B51 allele have got unfavorable BD courses which are characterized by the poorer outcomes of ocular or the neurological involvement. In light of the potential implications for the clinical practice, it appears suitable to consider that there is a relationship between the HLA-B51 genetic background and the clinical BD phenotype.

The etiology of BD remains to be unclear as the imbalances in the innate and adaptive immune responds to the infectious agents or the environmental factors while considering the genetically predisposed individuals. With existing evidence on the pathogenesis of the disease which is based on the predominance of the individual in the Mediterranean or the northern European region and the association with human leukocyte antigen HLA-B51 [4]. Thevaious investigation has been done to visualize the relationship between the diseases and also specify how the HLA-B51 becomes independent in a particular population. Association of an HLA-B51 allele can be less consistency if there is no replication with other HLA-B. The influence of HLA region in BD explore a relationship with the genes associated with BD.

Aim of the Review

The aim of this study was to investigate the relationship association of HLA-B51 genotype with Bechets disease clinical characteristics in the population living in the Northern Europe. The investigation would be made by reviewing the literature of different publications that have done analysis on the association of HLA-B51 with BD. About how BD is a rare phenomenon, the aim of the study involved critical analysis and investigation that would allow the full discussion of the background of the disease and how it is linked with the antigen HLA-B51.

The research aims at focusing primarily on the Northern part of Europe like Sweden and UK indicating the prevalence of the disease and how the environment especially the geographic distribution and genetic factors influence the spread and control of BD [6]. The issue needs to be critically scrutinized so that the study can identify whether theHLA-B51 has a modulatory effect on the expression of the disease and if the suggested positive and negative HLA-B51 in the BD patient from the same situation or not. Primarily the study was to identify the BD occurrence and indicate whether there was any association with HLA-B51 focusing on the population of Northern Europe.


Behcets disease has a high prevalence in zones close to Mediterranean and Middle East countries. It is considered through different studies that the prevalence of BD relies on the geographical distribution of a place. There is a peculiar geographic distribution that has supported the genetic influence on the pathogenesis of BD. The Behcets prevalence is commonly dependent on the ethnic origin and the genetic factors rather than the environmental factors4. HLA-B1 is considered to be a split antigen from HLA-B5 and has been identified to be a very accurate genetic maker in various groups in the world [6]. The susceptibility of the BD has been estimated to be 20% and since HLA-B51 is common in the BD patients ranging from a 40-80% in the ethnic groups of Turkey, European and Asian populations. The strongest association that exists between BD and HLA-B51 is among the population with high prevalence.

The pathogenesis role of HLA-B51 in BD is yet to be known although the HLA-B51 molecule is considered to be responsible for the hyper neutrophil function that is in BD patients. The primary role for the HLA class 1 antigen like HLA-B5i is to be able to present the endogenous peptides to the CD8+ cells3. The pathogenesis of the disease has also been evaluated through the Genome-Wide Association Studies, and they have been identified to provide more definite answers for the disease cause and the disease complex genetic trait if the performance is in large groups and different populations.

BD is a systemic disease which affects almost all the vascularized body systems which are characterized by the episodes of relapses and remissions that leads to sequale. Although there is a various clinical manifestation that goes hand in hand with BD, the pattern of the disease is known to have complex oral, genital and uveitis. The basis of the association of HLA with BD can be very much elusive, but the study has indicated that it can be explained by the variant that is located between the association of both HLA and BDA.

In the identification of the information that can be used to identify the phenotypic BD characterizes and generic organ or system manifestation, the use of secondary information from eligible publication was necessary. Different scholars had gathered data and also information on the BD classification criteria and the status of HLA-B51 status of the BD cases [5]. The study indicates that the association of Behcets disease with HLA-B51 is aided by a variance like a gene called ERAPI which process microbial protein in the white blood cells. The variation points to either less or more effective dispensation of microbial proteins prior being loaded in the HLA molecule to be presented in the immune system.

The study has been conducted to indicate that HLA-B51 antigen four times more likely to thrombophlebitis than the patient who does not have it. If in an occasion there is less involvement or association in frequency for the patients with HL and they have thrombophlebitis, then increased and a decrease in other types of HLA and therefore controlling the symptoms of the BD diseases1. Another scholar found out that deep thrombosis was seen to be mostly in the HLA-B5 positive BD patients compared to the HLA-B5 negative patients.

HLA-B51 indicates that for a Behcets patient, there is much more to the diagnosis given. Behcets disease occurs in 1 individual out of 1000 who have got the HLA-B51 phenotype. One does not need to show any of the HLA types so they can be diagnosed with Behcets. The physician has been able to base their diagnosis on the combination of observed physical sign and symptoms, their personal experience in treating Behcets patients, medical history, and the patients test results.

Recent research has indicated that evidence lean more strongly to HLA-B51 as the primary genetic association over any other potential maker that might exist. In a study conducted on 148 patients who posed symptoms of Behcets disease for at least five years. The patients were put into groups based on whether the symptoms are severe, moderate and mild [1]. Although there was the occurrence of certain symptoms occurred more frequently in the B51 positive patients, the connection between having more severe forms of Behcets and a patient being B51 positive is minimal, research provides a comparative look.

The study involved 61 patients who had BD and 56 patients who had recurrent aphthous ulcers and also 70 healthy subjects. The result obtained led to a conclusion that the BD patients who had the HLA-B51 were more susceptible to a lot of symptoms like uveitis, erythema and to add to it full blown Behcets disease [9]. The study came up with a concluding theory that indicated that being HLA-B51 positive, is a marker of a more severe prognosis.

The distinct distribution for BD has its high prevalence in the region that is reported to have been handling old trade and therefore providing a suitable route for migration to take place. In the northern Europe, the prevalence of BD is also eminent with 0.64/100000 in the UK and with high prevalence being Sweden. Sweden has been reported to handle 12 cases of BD with six immigrants on the question. Based on the cases that were brought forward, the prevalence of BD in Sweden was approximated to be 1.18/100000 [9]. The disease has got clinical characteristics that are highly associated if the person is suspected to suffer from BD. The patients experience recurrent fevers, posterior uveitis, folliculitis, erythema nosodum, blindn...

Request Removal

If you are the original author of this essay and no longer wish to have it published on the website, please click below to request its removal: