Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Objective: Asthma is a heterogeneous and genetically complex respiratory disease, and more than 300 million people are affected worldwide. In this study, frequencies of four SNPs (rs3816470, rs7216389, rs8067378, rs12603332) in chromosome 17q21 region were analyzed and their relationship with the asthma susceptibility, in the Pashtun population of Khyber Pakhtunkhwa province (KPK) of Pakistan were investigated.
Methods: DNA samples from 500 subjects (asthma cases/controls) were genotyped by Sanger sequencing. Chi-square tests, logistic regression analysis, linkage disequilibrium, and haplotype analysis techniques were applied to study the association of the SNPs with asthma.
Results: Genetic models, including recessive, dominant, co-dominant, over-dominant, and additive, were tested. The frequencies of alleles T/T at rs3816470 (OR = 1.91; 95%CI = 1.15-3.18; = ) and rs7216389 (OR = 2.14; 95%CI = 1.21-3.79; = ), A/A at rs 8067378 (OR = 1.89; 95%CI = 1.17-3.06; = ), C/C at rs12603332 (OR = 1.97; 95%CI = 1.18-3.27; = ), under recessive models, respectively, were significantly (-values < ) associated with asthma susceptibility. The frequencies of T/T genotype in rs3816470 (OR = 6.01; 95%CI = 2.48-14.60; = ), and rs7216389 (OR = 5.05; 95%CI = 1.79-14.21; = ), and C/C at rs12603332 (OR = 2.64; 95%CI = 1.11-6.32; = ), were significantly (-values < ) associated with asthma susceptibility in Pashtun women by stratified analysis based on age and gender. Similarly, three unique haplotypes were found associated with disease development and protective effect in female and male subjects. Linkage disequilibrium analysis presented a strong linkage (≥80%) between SNP variants and predicted their co-inheritance in the studied population.
Conclusion: The 17q21 variants (rs3816470, rs7216389, rs12603332) were found significantly (-values < ) associated with asthma predisposition in the Pashtun population of KPK exclusively in the female asthmatic cases.
Unlabelled: Supplemental data for this article can be accessed.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1080/02770903.2021.2025391 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identification of mutation in ASPM gene in microcephaly families from Khyber Pakhtunkhwa.
Mol Biol Rep
August 2025
Department of Allied Health Sciences, Iqra National University, Peshawar, 25000, Pakistan.
Background: Microcephaly is a neurodevelopmental disorder characterized by a reduced head circumference, non-progressive intellectual disability (ID), and a smaller brain size relative to the age and sex-matched population. The condition is heterogeneous, with both environmental and genetic causes. Among the 27 genes implicated in its pathogenesis, the ASPM gene, primarily an autosomal recessive disorder, accounts for over 40% of reported cases, making it a key contributor to the genetic basis of microcephaly.
View Article and Find Full Text PDFIdentification of genetic risk variants in PCSK9 gene and its association with myocardial infarction in Pakistani Pashtun population.
Cardiovasc J Afr
June 2025
Department of Pharmacy, University of Peshawar, Peshawar 25000, Pakistan.
Objective: Substantial advancements have been made in the identification of genetic risk variants associated with myocardial infarction (MI), predominantly within developed nations. The limited representation of the Pakistani population in genetic studies motivated us to design this study. The objective of this study is to identify the genetic variants within the PCSK9 gene and its possible association with myocardial infarction (MI) in Pakistani Pashtun population.
View Article and Find Full Text PDFPathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.
Sci Rep
April 2025
Institute of Pathology & Diagnostic Medicines, Khyber Medical University, Phase V, Hayatabad, Peshawar, 25000, Khyber Pakhtunkhwa, Pakistan.
Primary Congenital Glaucoma (PCG) is a severe form of glaucoma that affects infants and young children that damage and causes vision impairment. Despite being a well-known condition, the genetic basis of PCG, particularly in highly consanguineous populations like the Pashtun community, still needs to be explored. Six consanguineous Pashtun families (PCG-01, PCG-02, PCG-03, PCG-04, PCG-05, & PCG-07) suffering from PCG were recruited for whole exome sequencing.
View Article and Find Full Text PDFThe association of migration-related stress with poor mental health among recently resettled Afghan refugees.
J Migr Health
November 2024
TSET Health Promotion Research Center, Stephenson Cancer Center, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Background: The resettlement of Afghan refugees in Oklahoma City, OK, provides a critical context for examining the mental health challenges faced by this population due to post-migration stressors.
Methods: This study utilized online surveys to recently resettled Afghan refugees in Oklahoma City, with support provided by bilingual research assistants to accommodate low literacy rates. Surveys, initially in English, were professionally translated into Dari and Pashto and validated through back-translation.
Identification of genetic risk variants for Type-2 Diabetes mellitus in Pakistani Pashtun population: A case-control association study.
Pak J Med Sci
November 2024
Abdullah R. Alanzi, Department of Pharmacognosy, College of Pharmacy, King Saud University, Riyadh 1151, Saudi Arabia.
Article Synopsis
- Pakistan is witnessing a rise in diabetes cases, particularly among the Pashtun population, prompting a study to explore genetic factors linked to Type-2 Diabetes Mellitus (T2DM).
- The study, conducted from March 2018 to January 2020 with 1,000 participants (500 patients and 500 controls), involved identifying known and new genetic markers related to T2DM in a two-stage process of discovery and validation.
- Eleven known and four novel genetic markers were identified, with strong associations established for specific variants, offering new insights into the genetic risk factors for T2DM in the Pashtun community.