RISK LOCI FOR CHRONIC OBSTRUCTIVE DISEASE RESIDE ON CHROMOSOME 14: A CASE-CONTROL STUDY ON THE PAKISTANI POPULATION

Authors

  • Peerzada Fawad Ullah Jan
  • Samra Kousar Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
  • Atif Mahmood Fatima Memorial Hospital, FMH college of Medicine and Dentistry, Lahore, Pakistan
  • Sarooj Nadeem Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan. 2-Genomics Research Centre, Academia Sinica, Taiwan
  • Kausar Malik Centre of Excellence in molecular Biology, University of the Punjab, Lahore, Pakistan
  • Waqas Safir 1-Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan,2-Department of Biochemistry, Hazara University, Mansehra, Pakistan.
  • Nodia Shujaat Department of Biochemistry, Hazara University, Mansehra, Pakistan.
  • Fahim Ullah Khan Department of Agriculture, Hazara University, Mansehra, Pakistan
  • Mariam Shahid Centre of Excellence in Molecular Biology, University of the Punjab

DOI:

https://doi.org/10.55519/JAMC-02-11430

Keywords:

COPD, SERPINA, Single Nucleotide Polymorphism, Association Study

Abstract

Background: Chronic Obstructive Pulmonary Disease (COPD), the third leading cause of death worldwide, is characterized by airflow limitation that can be due to abnormalities in the airway and/or alveoli. Genetic diagnosis at an early stage can be a key factor in the provision of accurate and timely treatment. Single Nucleotide polymorphisms (SNPs) are an important tool to study genetic association/ predisposition of the disease and have great potential to be diagnostic markers for early diagnosis of disease. Methods: This case-control COPD association study was designed for the five SNPs residing on potential candidate genes (SERPINA1, SERPINA3, RIN3), to check whether these genes are involved in the genetic predisposition for COPD in the Pakistani population or not. The SNAPshot method was used to find out the risk alleles and haplotypes using ABI Genetic analyzer 3130. GeneMapper, Haploview and PLINK 1.9 software were used for analyzing the genotypes and haplotypes taking smoking exposure and gender as covariates. Results: Two of the SNPs, rs4934 and rs17473 were found to be independently and significantly associated with COPD in our studied population whereas haplotype H1 for two SNPs, rs754388 and rs17473 (that are in high linkage disequilibrium), was found to be a significant risk factor for developing COPD symptoms. Conclusion: SNP variants of SERPINA1 and SERPINA3 are significantly and independently associated with COPD in the local population of Pakistan.

Author Biographies

Peerzada Fawad Ullah Jan

M.Phil student 1-Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan. 2-Department of Biochemistry, Hazara University, Mansehra, Pakistan.

Samra Kousar, Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan

Ph.D student Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan

Atif Mahmood, Fatima Memorial Hospital, FMH college of Medicine and Dentistry, Lahore, Pakistan

Professor/Head of Pulmonology Fatima Memorial Hospital, FMH college of Medicine and Dentistry, Lahore, Pakistan  

Sarooj Nadeem, Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan. 2-Genomics Research Centre, Academia Sinica, Taiwan

1-MPhil Student Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan. 2-Research affiliate Genomics Research Centre, Academia Sinica, Taiwan

Kausar Malik, Centre of Excellence in molecular Biology, University of the Punjab, Lahore, Pakistan

Director/Professor Centre of Excellence in molecular Biology, University of the Punjab, Lahore, Pakistan

Waqas Safir, 1-Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan,2-Department of Biochemistry, Hazara University, Mansehra, Pakistan.

M.Phil Student 1-Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan 2-Department of Biochemistry, Hazara University, Mansehra, Pakistan.  

Nodia Shujaat, Department of Biochemistry, Hazara University, Mansehra, Pakistan.

Head of Department Department of Biochemistry, Hazara University, Mansehra, Pakistan.

Fahim Ullah Khan, Department of Agriculture, Hazara University, Mansehra, Pakistan

Assistant Professor Department of Agriculture, Hazara University, Mansehra, Pakistan

Mariam Shahid, Centre of Excellence in Molecular Biology, University of the Punjab

Assistant professor Incharge Genetic Screening Lab Centre of Excellence in Molecular Biology, University of the Punjab, Lahore

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Additional Files

Published

2023-04-16

Issue

Vol. 35 No. 2 (2023): JOURNL OF AYUB MEDICAL COLLEGE ABBOTTABAD

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ORIGINAL ARTICLE

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Copyright (c) 2023 Peerzada Fawad Ullah Jan, Samra Kousar, Atif Mahmood, Sarooj Nadeem, Kausar Malik, Waqas Safir, Nodia Shujaat, Fahim Ullah Khan, Mariam Shahid

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