An angiotensin I-converting enzyme insertion/deletion polymorphism is associated with Pakistani asthmatic cases and controls

• Published in: Journal of biosciences Vol. 41; no. 3; pp. 439 - 444
• Main Authors: Saba, Nusrat, Yusuf, Osman, Rehman, Sadia, Munir, Saeeda, Ahmad, Sheeraz, Mansoor, Atika, Raja, Ghazala K
• Format: Journal Article
• Language: English
• Published: New Delhi Springer India 01.09.2016; Springer Nature B.V
• Subjects: ACE inhibitors; Adult; Asthma; Asthma - genetics; Asthma - pathology; Biomedical and Life Sciences; Biomedicine; Cell Biology; Enzymes; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Health risks; Homozygote; Humans; INDEL Mutation; Life Sciences; Male; Microbiology; Middle Aged; Pakistan; Peptidyl-Dipeptidase A - genetics; Plant Sciences; Polymorphism; Polymorphism, Single Nucleotide; Risk assessment; Zoology; Pakistan; angiotensin I-converting enzyme; asthma; ACE I/D polymorphism; Pakistan
• ISSN: 0250-5991; 0973-7138
• DOI: 10.1007/s12038-016-9617-x

Asthma is a chronic disease due to inflammation of the airways of lungs that is clinically characterized by variable symptoms including wheezing, coughing and shortness of breath. Angiotensin I-converting enzyme (ACE) plays a major role in fibrous tissue formation and is highly expressed in lungs. The main aim of this research work was to study the role of ACE insertion/deletion (I/D) polymorphism, rs4646994, in asthma in Pakistani patients. A total of 854 subjects, including 333 asthma patients and 521 ethnically matched controls, were studied. The ACE (I/D) polymorphism was genotyped using polymerase chain reaction (PCR). Chi-square, Fisher’s exact and Hardy–Weinberg equilibrium tests were used to compare groups. Homozygous insertion genotype II (p<0.0001, OR=3.38) and insertion allele (I) was significantly more frequent in Pakistani asthmatics than in healthy controls (p=0.0007, OR=1.40). The ID genotype (p<0.0001, OR=0.43) and the deletion allele (D) were associated with protection of disease in Pakistani patients (p=0.0007, OR=0.71). These data suggest the involvement of ACE I/D polymorphism in asthma risk in the Pakistani population. This marker may be an important indication in the molecular mechanism of asthma and can become a useful tool in risk assessment and help in designing strategy to combat disease.