title: An angiotensin I-converting enzyme insertion/deletion polymorphism is associated with Pakistani asthmatic cases and controls.
abstract: 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 less than 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 less than 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.
authors: Institute of Biomedical and Genetic Engineering, Islamabad, Pakistan, nusratsaba@yahoo.co.in.
authors: Nusrat
authors: N
authors: Saba
authors: Osman
authors: O
authors: Yusuf
authors: Sadia
authors: S
authors: Rehman
authors: Saeeda
authors: S
authors: Munir
authors: Sheeraz
authors: S
authors: Ahmad
authors: Atika
authors: A
authors: Mansoor
authors: Ghazala K
authors: GK
authors: Raja
mesh_terms: D000328:Adult; D001249:Asthma / Q000235:genetics* / Q000473:pathology; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006720:Homozygote; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D008875:Middle Aged; D010154:Pakistan; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D007703:Peptidyl-Dipeptidase A