ABSTRACT
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.
Subject(s)
Pulmonary Disease, Chronic Obstructive/epidemiology , Pulmonary Disease, Chronic Obstructive/genetics , alpha 1-Antitrypsin Deficiency/epidemiology , alpha 1-Antitrypsin Deficiency/genetics , alpha 1-Antitrypsin/genetics , Age Factors , Aged , Alleles , Case-Control Studies , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Prevalence , Real-Time Polymerase Chain Reaction , Respiratory Function Tests , Saudi Arabia/epidemiology , Smoking/epidemiologyABSTRACT
BACKGROUND: Vitamin D deficiency is a global public health problem. The published literature on vitamin D deficiency is limited among Arab pregnant women and its association with different metabolic markers. OBJECTIVE: To determine the prevalence of vitamin D deficiency in Arab pregnant women and neonates and its association with various biomarker profiles. METHODS: This is a multicenter study taken from a large prospective project in Riyadh, the capital city of Saudi Arabia. Maternal biochemical levels were measured routinely. Maternal and neonatal 25(OH)D levels were assessed using a chemiluminescence immunoassay. A total of 1,097 pregnant women >16 years old with gestational ages <24 weeks were recruited from different tertiary hospitals in Riyadh between February 2011 and June 2012. RESULTS: Almost 85% of pregnant subjects had 25(OH)D level <50 nmol/L. Vitamin D deficiency among neonates was 88%. Maternal 25(OH)D was significantly associated with neonatal 25(OH)D (r = 0.54, p < 0.01), as well as serum calcium (r = 0.16, p = 0.02) and phosphate levels (r = 0.17, p = 0.02), and had an inverse correlation with parathyroid hormone (r = -0.22, p = 0.001). CONCLUSION: Maternal and neonatal vitamin D deficiency is alarmingly high in Arabs and significantly associated with each another. Universal screening for serum 25(OH)D may be appropriate for Arab mothers and vitamin D supplementation mandatory until term. The study puts a spotlight on vitamin D deficiency with the hope that health professionals will address it adequately to prevent the known long-term consequences for metabolism and bone health of both mothers and their children.
Subject(s)
Infant, Newborn, Diseases/epidemiology , Pregnancy Complications/epidemiology , Vitamin D Deficiency/epidemiology , Adolescent , Adult , Arabs/statistics & numerical data , Calcium/blood , Female , Humans , Infant, Newborn , Infant, Newborn, Diseases/blood , Male , Parathyroid Hormone/blood , Pregnancy , Pregnancy Complications/blood , Prevalence , Saudi Arabia/epidemiology , Vitamin D/blood , Young AdultABSTRACT
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 the proper diagnosis of alpha-1 antitrypsin deficiency (AATD), as well as the association of liver cirrhosis with AATD in Saudi adults.Blood samples from 300 liver cirrhosis patients and 400 controls were analyzed according to serum AAT concentration, phenotyping, and genotyping. Nephelometry was used for AAT quantification, isoelectric focusing electrophoresis was used for phenotyping detection, and real-time PCR was used for genotyping to determine the Z and S deficiency alleles.This study highlights the accuracy of using genotyping in addition to AAT quantification, since this technique has proven to be successful in the diagnosis of AATD for 100% of our cases. A significant deviation in AAT genotypes frequencies from the Hardy-Weinberg equilibrium in the adult cirrhosis group occurred due to a higher observed frequency than expected for the Pi ZZ homozygous genotype.Pi ZZ in adults may be considered as the risk factor for liver cirrhosis. However, we could not establish this relationship for heterozygous AATD genotypes (such as Pi MZ and Pi SZ).