PMID- 17578052
OWN - NLM
STAT- MEDLINE
DCOM- 20070719
LR  - 20140729
IS  - 0966-8519 (Print)
IS  - 0966-8519 (Linking)
VI  - 16
IP  - 3
DP  - 2007 May
TI  - Human leukocyte antigen (HLA) class II association with rheumatic heart disease 
      in Pakistan.
PG  - 300-4
AB  - BACKGROUND AND AIM OF THE STUDY: Rheumatic heart disease (RHD) is widespread in 
      Pakistan. Specific alleles of the human leukocyte antigen (HLA) system are 
      associated with RHD in various world populations. The study aim was to 
      investigate the involvement of HLA class II alleles in genetic susceptibility to 
      RHD in patients with relatively homogeneous clinical manifestations, in Pakistan. 
      METHODS: Blood samples were collected from 114 unrelated patients (94 females, 20 
      males) with rheumatic mitral valve disease, predominantly mitral stenosis, as 
      assessed by echocardiography. The control group comprised 109 unrelated, 
      ethnically matched, healthy individuals (60 females, 49 males) with normal 
      echocardiograms. Genomic DNA was extracted from venous blood using a standard 
      phenol/chloroform extraction procedure. HLA-DRB, -DQA1, and -DQB1 alleles were 
      typed using polymerase chain reaction with sequence-specific primers. HLA allele 
      and haplotypes frequencies were then calculated. RESULTS: A significantly higher 
      frequency of DRB1*07 was observed in patients as compared to controls (one-way 
      parametric analysis of variance, F = 4.84, p = 0.028; OR = 1.76, p = 0.039). No 
      alleles for the HLA-DQA1 or -DQB1 loci were associated with the disease. 
      HLA-DRB1*07-DQA1*0501-DQB1*02, the only haplotype that differed significantly 
      between patients and controls (one-way parametric Anova, F = 4.866, p = 0.028; OR 
      = 7.33, p = 0.06), did not exhibit significant linkage disequilibrium. 
      CONCLUSION: These results show that HLA-DRB1*07, associated with RHD in various 
      world populations, is also associated with RHD in the Pakistani population. The 
      validation of HLA associations with RHD, which is observed in different world 
      populations, may lead to the development of a cost-effective strategy in the 
      primary prevention of this disease.
FAU - Rehman, Sadia
AU  - Rehman S
AD  - Biomedical and Genetic Engineering Laboratories, Islamabad, Pakistan.
FAU - Akhtar, Naveed
AU  - Akhtar N
FAU - Ahmad, Waqar
AU  - Ahmad W
FAU - Ayub, Qasim
AU  - Ayub Q
FAU - Mehdi, Syed Q
AU  - Mehdi SQ
FAU - Mohyuddin, Aisha
AU  - Mohyuddin A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Heart Valve Dis
JT  - The Journal of heart valve disease
JID - 9312096
RN  - 0 (Histocompatibility Antigens Class II)
SB  - IM
MH  - Adult
MH  - Case-Control Studies
MH  - Female
MH  - Gene Frequency
MH  - Haplotypes
MH  - Histocompatibility Antigens Class II/*blood/*genetics
MH  - Humans
MH  - Male
MH  - Pakistan
MH  - Polymerase Chain Reaction
MH  - Rheumatic Heart Disease/*genetics
EDAT- 2007/06/21 09:00
MHDA- 2007/07/20 09:00
CRDT- 2007/06/21 09:00
PHST- 2007/06/21 09:00 [pubmed]
PHST- 2007/07/20 09:00 [medline]
PHST- 2007/06/21 09:00 [entrez]
PST - ppublish
SO  - J Heart Valve Dis. 2007 May;16(3):300-4.