PMID- 25780800
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20151026
LR  - 20201001
IS  - 2305-7823 (Print)
IS  - 2305-7823 (Electronic)
IS  - 2305-7823 (Linking)
VI  - 2014
IP  - 4
DP  - 2014
TI  - Genetic susceptibility to endomyocardial fibrosis.
PG  - 473-81
LID - 10.5339/gcsp.2014.60 [doi]
AB  - 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.
FAU - Beaton, Andrea M D
AU  - Beaton A M D
AD  - Children's National Medical Center, Washington, DC.
FAU - Sable, Craig M D
AU  - Sable C M D
AD  - Children's National Medical Center, Washington, DC.
FAU - Brown, Juliette PhD
AU  - Brown J PhD
AD  - NHS Blood and Transplant, Colindale, England.
FAU - Hoffman, Joshua
AU  - Hoffman J
AD  - Center for Human Genetics Research, Vanderbilt University Medical Center, 
      Nashville, TN.
FAU - Mungoma, Michael M D
AU  - Mungoma M M D
AD  - Mulago Hospital, Kampala, Uganda.
FAU - Mondo, Charles M D
AU  - Mondo C M D
AD  - Mulago Hospital, Kampala, Uganda.
FAU - Cereb, Nezith
AU  - Cereb N
AD  - Histogenetics.
FAU - Brown, Colin PhD
AU  - Brown C PhD
AD  - NHS Blood and Transplant, Colindale, England.
FAU - Summar, Marshall M D
AU  - Summar M M D
AD  - Children's National Medical Center, Washington, DC.
FAU - Freers, Jurgen M D
AU  - Freers J M D
AD  - Mulago Hospital, Kampala, Uganda.
FAU - Ferreira, Maria Beatriz Md
AU  - Ferreira MB Md
AD  - Instituto do Coracao, Mozambique.
FAU - Yacoub, Magdi M D
AU  - Yacoub M M D
FAU - Mocumbi, Ana Olga M D
AU  - Mocumbi AO M D
LA  - eng
PT  - Journal Article
DEP - 20141231
PL  - Qatar
TA  - Glob Cardiol Sci Pract
JT  - Global cardiology science & practice
JID - 101613130
PMC - PMC4355520
OTO - NOTNLM
OT  - Cardiomyopathy
OT  - Endomyocardial Fibrosis
OT  - Genetic Suceptibility
EDAT- 2014/01/01 00:00
MHDA- 2014/01/01 00:01
PMCR- 2014/12/31
CRDT- 2015/03/18 06:00
PHST- 2014/06/24 00:00 [received]
PHST- 2014/12/11 00:00 [accepted]
PHST- 2015/03/18 06:00 [entrez]
PHST- 2014/01/01 00:00 [pubmed]
PHST- 2014/01/01 00:01 [medline]
PHST- 2014/12/31 00:00 [pmc-release]
AID - gcsp.2014.60 [pii]
AID - 10.5339/gcsp.2014.60 [doi]
PST - epublish
SO  - Glob Cardiol Sci Pract. 2014 Dec 31;2014(4):473-81. doi: 10.5339/gcsp.2014.60. 
      eCollection 2014.