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بسمه محمد عبدالعزيز المعارك Basmah Mohammad Almaarik

Lecturer

Lecturer in Microbiology

كلية العلوم الطبية التطبيقية
KSU Girls City Campus, Building 11, 3rd floor office NO.124
publication
Journal Article
2017

The prevalence of PI*S and PI*Z SERPINA1 alleles in healthy individuals and COPD patients in Saudi Arabia A case–control study

Al-Shareef,, Noura Al-Jameil, MD,a Amina A. Hassan, PhD,a,* Rana Hassanato, MD,b Sree R. Isac, PhD,a Maram Al Otaiby, PhD,b Fadwa . 2017

Alpha-1 antitrypsin (AAT) is an acute phase protein produced in hepatocytes. Its deficiency affects the lungs and liver. A case-control study was carried out to determine the prevalence of 2 common deficiency alleles, PI*S and PI*Z, for alpha-1 antitrypsin deficiency (AATD) in both healthy and chronic obstructive pulmmonary disease (COPD)-affected Saudi populations and to clarify the importance of genetic tests in the screening of people at risk for COPD.One thousand blood samples from healthy individuals and 1000 from COPD-affected Saudi individuals were genotyped for the above-mentioned alleles, using real-time polymerase chain reaction (PCR), with the exclusion of any other nationalities. Data were analyzed by determining the allele and genotype frequencies through gene counting and its confidence intervals. The allele frequencies, derived by the Hardy-Weinberg equilibrium method, were analyzed by Pearson Chi-squared tests. The confidence intervals for genotype frequencies were calculated using exploratory software for confidence intervals.Of the 1000 COPD patients included in our study, the prevalence of PI*S and PI*Z was 21.8% and 7.7%, respectively, while within the 1000 normal samples, these alleles occurred in 8.9% of patients for PI*S and 1.6% for PI*Z. The AAT deficiency genotype frequencies (PI*ZZ, PI*SS, and PI*SZ) were 6.5 per 1000 and 87 per 1000 for normal and COPD-affected Saudi individuals.Our results indicated a high prevalence of AATD alleles in the normal Saudi population and an association between AAT deficiency and pulmonary disease development. Additionally, our research confirms the importance of genetic screening to achieve early and accurate diagnosis of AATD.

Volume Number
96
Issue Number
e8320
Magazine \ Newspaper
Medicine (Baltimore)
Pages
96(42): .
more of publication
publications
by Noura Al-Jameil1 , Sree R. Isac1 , Rana Hassanato2 , Basma Al-Maarek1 , Eman Al-Ajian1 , Amina A. Hassan
2016
publications

Alpha-1 antitrypsin (AAT) is an acute phase protein produced in hepatocytes. Its deficiency affects the lungs and liver.

by Noura Al-Jameil, MD,a Amina A. Hassan, PhD,a,* Rana Hassanato, MD,b Sree R. Isac, PhD,a Maram Al Otaiby, PhD,b Fadwa Al-Shareef,
2017
publications

The acute phase protein alpha-1 antitrypsin (AAT) is mainly produced in liver cells. AAT deficiency affects the lungs and liver. We conducted a case-control study to define a valuable method for…

by Noura Al-Jameil, MDa , Amina A. Hassan, PhDa,∗ , Ahlam Buhairan, PhDa , Rana Hassanato, MDb , Sree R. Isac, PhDa , Maram Al-Otaiby, PhDb , Basmah Al-Maarik, MSca , Iman Al-Ajeyan, MSca
2017