Human Leukocyte Antigen Genetic Variations in Obstructive Sleep Apnea Patients that were positive for HLA-DQB1*0602.

Authors

  • ThamerA Fattah Al Qatarneh Department of Applied Biological Sciences, Jordan University of Science and Technology, Jordan.
  • Suleiman Mohammad Momany Department of Internal Medicine, Jordan University of Science and Technology, Jordan
  • Nizar Mohammad Abuharfil Department of Applied Biological Sciences, Jordan University of Science and Technology, Jordan
  • Amjad Abduallah Mahasneh Department of Applied Biological Sciences, Jordan University of Science and Technology, Jordan
  • Yousef Saleh Khader Department of Public Health and Community Medicine, Department of Applied Biological Sciences, Jordan University of Science and Technology, Jordan
  • Ammar Khaled Daoud Department of Internal Medicine, Jordan University of Science and Technology, Jordan

DOI:

https://doi.org/10.3329/bjms.v18i3.41613

Keywords:

HLA (Human Leukocyte Antigen), OSA (Obstructive Sleep Apnea), SNPs (Single Nucleotide Polymorphisms), Polymerase Chain Reaction Sequence Specific Primers (PCR-SSPs)

Abstract

Background: Genetic variations in the HLA system may cause susceptibility to a large number of autoimmune and infectious diseases, and the complexity of HLA makes it hard to investigate HLA types associated with diseases. The association between HLA and Obstructive Sleep Apnea (OSA) is not well investigated due to the complexity of OSA pathogenesis; including genetic and non-genetic in different populations. Our previous study using PCR-SSPs technique showed that HLA-DQB1*0602 allele is associated with almost 6 times increase in risk in North Jordan OSA patients.

Aim: The aim of this study was to see if there are any HLA genetic variations using DNA sequencing technique in the region in which HLA-DQB1*0602 is located that might interact with HLA-DQB1*0602 and affect OSA development in OSA patients who were positive for HLA-DQB1*0602 allele.

Result: The DNA sequencing results showed 8 nucleotide substitution variations, which are p.G77E (c.230G>A), p.R80R (c.240C>G), p.Q85L (c.254A>T), p.R87P (c.260G>C), p.Y69D (c.205T>G), p.A70V (c.209C>T), p.A70A (c.210G>A), p.Y79Y (c.237C>T). Although only 5 variants resulted in amino acid change, all 8 variants were included in the statistical analysis, and none of these genetic variants was significant (p-value> 0.05). Additionally, eight haplotypes were detected. Some of these haplotypes might have a role in disease development through the interaction with HLA-DQB1*0602 and other genetic variants or could be as markers for OSA by the mechanism of linkage disequilibrium.

Conclusion: Further studies are needed to explain the pathogenesis of OSA in terms of possible self or non-self-antigens involved.

Bangladesh Journal of Medical Science Vol.18(3) 2019 p.473-478

Downloads

Download data is not yet available.
Abstract
0
PDF
4

Downloads

Published

2019-05-30

How to Cite

Qatarneh, T. F. A., Mohammad Momany, S., Mohammad Abuharfil, N., Mahasneh, A. A., Khader, Y. S., & Daoud, A. K. (2019). Human Leukocyte Antigen Genetic Variations in Obstructive Sleep Apnea Patients that were positive for HLA-DQB1*0602. Bangladesh Journal of Medical Science, 18(3), 473–478. https://doi.org/10.3329/bjms.v18i3.41613

Issue

Vol. 18 No. 3 (2019)

Section

Original Articles

License

Authors who publish in the Bangladesh Journal of Medical Science agree to the following terms that:

  1. Authors retain copyright and grant Bangladesh Journal of Medical Science the right of first publication of the work.

  2. Creative Commons Licence
    Articles in Bangladesh Journal of Medical Science are licensed under a Creative Commons Attribution 4.0 International License CC BY-4.0.This license permits use, distribution and reproduction in any medium, provided the original work is properly cited.
  3. Authors are able to enter into separate, additional contractual arrangements for the distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
  4. Authors are permitted to post their work online (e.g., in institutional repositories or on their website) as it can lead to productive exchanges, as well as greater citation of published work.