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Genetic susceptibility to endomyocardial fibrosis.

Beaton A, Sable C, Brown J, Hoffman J, Mungoma M, Mondo C, Cereb N, Brown C, Summar M, Freers J, Ferreira MB, Yacoub M, Mocumbi AO - Glob Cardiol Sci Pract (2014)

Bottom Line: The human leukocyte antigen (HLA) system is associated with predisposition to various diseases.In this first formal genetic study, we found HLA alleles associated with cases of EMF in two populations from sub-Saharan Africa, with EMF patients being more likely than controls to have the HLA-B*58 allele in Mozambique (p-0.03) and the HLA-A*02:02 in Uganda (p = 0.005).Further investigations are needed to more fully understand the role of genetics in EMF development.

View Article: PubMed Central - PubMed

Affiliation: Children's National Medical Center, Washington, DC.

ABSTRACT

Background: Endomyocardial fibrosis (EMF) is the most common form of restrictive cardiomyopathy worldwide. It has been linked to poverty and various environmental factors, but-for unknown reasons-only some people who live in similar conditions develop the disease. EMF cases cluster within both families and ethnic groups, suggesting a role for a genetic factor in host susceptibility. The human leukocyte antigen (HLA) system is associated with predisposition to various diseases. This two-center study was designed to investigate variation in the HLA system between EMF patients and unaffected controls. We provide the first genetic investigation of patients with EMF, as well as a comprehensive review of the literature.

Methods: HLA class I (HLA-A, -B, -C) and class II (DRB1, DQB1) types were determined in 71 patients with severe EMF and 137 controls from Uganda and Mozambique. Chi Square analysis was used to identify any significant difference in frequency of class I and class II HLA types between cases and controls.

Results: Compared to ethnically matched controls, HLA-B*58 occurred more frequently in Mozambique patients with EMF and HLA-A*02:02 occurred more frequently in Ugandan patients with EMF.

Conclusions: Ample subjective evidence in the historical literature suggests the importance of a genetically susceptible host in EMF development. In this first formal genetic study, we found HLA alleles associated with cases of EMF in two populations from sub-Saharan Africa, with EMF patients being more likely than controls to have the HLA-B*58 allele in Mozambique (p-0.03) and the HLA-A*02:02 in Uganda (p = 0.005). Further investigations are needed to more fully understand the role of genetics in EMF development.

No MeSH data available.


Related in: MedlinePlus

The study was conducted in 2 countries with high prevalence rates of EMF – Uganda and Mozambique.
© Copyright Policy - open-access
Related In: Results  -  Collection


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fig2: The study was conducted in 2 countries with high prevalence rates of EMF – Uganda and Mozambique.

Mentions: Our study was conducted in Mozambique and Uganda, two countries with endemic areas for EMF (Figure 2). Patients who underwent echocardiography and were diagnosed with EMF according to the previously described criteria were approached for participation (Table 1). There were no exclusion criteria for those with a positive echocardiogram. The first study was at the Mozambique Heart Institute between November 2004 and August 2006. Eighty consecutive patients with clinical evaluation and detailed echocardiographic diagnosis of EMF were recruited from outpatient clinics and wards. Of these, 40 had mild or moderate disease and were excluded from this analysis. Eighty-nine controls, matched for age and ethnic group, documented by echocardiogram to be EMF negative, were recruited from blood donors at a neighboring hospital.


Genetic susceptibility to endomyocardial fibrosis.

Beaton A, Sable C, Brown J, Hoffman J, Mungoma M, Mondo C, Cereb N, Brown C, Summar M, Freers J, Ferreira MB, Yacoub M, Mocumbi AO - Glob Cardiol Sci Pract (2014)

The study was conducted in 2 countries with high prevalence rates of EMF – Uganda and Mozambique.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4355520&req=5

fig2: The study was conducted in 2 countries with high prevalence rates of EMF – Uganda and Mozambique.
Mentions: Our study was conducted in Mozambique and Uganda, two countries with endemic areas for EMF (Figure 2). Patients who underwent echocardiography and were diagnosed with EMF according to the previously described criteria were approached for participation (Table 1). There were no exclusion criteria for those with a positive echocardiogram. The first study was at the Mozambique Heart Institute between November 2004 and August 2006. Eighty consecutive patients with clinical evaluation and detailed echocardiographic diagnosis of EMF were recruited from outpatient clinics and wards. Of these, 40 had mild or moderate disease and were excluded from this analysis. Eighty-nine controls, matched for age and ethnic group, documented by echocardiogram to be EMF negative, were recruited from blood donors at a neighboring hospital.

Bottom Line: The human leukocyte antigen (HLA) system is associated with predisposition to various diseases.In this first formal genetic study, we found HLA alleles associated with cases of EMF in two populations from sub-Saharan Africa, with EMF patients being more likely than controls to have the HLA-B*58 allele in Mozambique (p-0.03) and the HLA-A*02:02 in Uganda (p = 0.005).Further investigations are needed to more fully understand the role of genetics in EMF development.

View Article: PubMed Central - PubMed

Affiliation: Children's National Medical Center, Washington, DC.

ABSTRACT

Background: Endomyocardial fibrosis (EMF) is the most common form of restrictive cardiomyopathy worldwide. It has been linked to poverty and various environmental factors, but-for unknown reasons-only some people who live in similar conditions develop the disease. EMF cases cluster within both families and ethnic groups, suggesting a role for a genetic factor in host susceptibility. The human leukocyte antigen (HLA) system is associated with predisposition to various diseases. This two-center study was designed to investigate variation in the HLA system between EMF patients and unaffected controls. We provide the first genetic investigation of patients with EMF, as well as a comprehensive review of the literature.

Methods: HLA class I (HLA-A, -B, -C) and class II (DRB1, DQB1) types were determined in 71 patients with severe EMF and 137 controls from Uganda and Mozambique. Chi Square analysis was used to identify any significant difference in frequency of class I and class II HLA types between cases and controls.

Results: Compared to ethnically matched controls, HLA-B*58 occurred more frequently in Mozambique patients with EMF and HLA-A*02:02 occurred more frequently in Ugandan patients with EMF.

Conclusions: Ample subjective evidence in the historical literature suggests the importance of a genetically susceptible host in EMF development. In this first formal genetic study, we found HLA alleles associated with cases of EMF in two populations from sub-Saharan Africa, with EMF patients being more likely than controls to have the HLA-B*58 allele in Mozambique (p-0.03) and the HLA-A*02:02 in Uganda (p = 0.005). Further investigations are needed to more fully understand the role of genetics in EMF development.

No MeSH data available.


Related in: MedlinePlus