Frequencies of the Arg16Gly, Gln27Glu and Thr164Ile Adrenoceptor β2 Polymorphisms among Omanis
Journal Title: Sultan Qaboos University Medical Journal - Year 2015, Vol 15, Issue 4
Abstract
Objectives: Tis study aimed to assess the distribution of missense mutations in the adrenoceptor β2 (ADRB2) gene in an Omani cohort. Methods: Tis study was carried out between May 2014 and March 2015 at the Sultan Qaboos University, Muscat, Oman. Blood samples were taken from 316 unrelated Omani subjects. Genotyping for rs1042713 (c.46A>G, p.Arg16Gly), rs1042714 (c.79C>G, p.Gln27Glu) and rs1800888 (c.491C>T, p.Tr164Ile) polymorphisms was performed by real-time polymerase chain reaction using single nucleotide polymorphism (SNP) genotyping assays. Te allelic frequencies of these polymorphisms were estimated on the basis of the observed numbers of specifc alleles from the genotype data for male and female subjects. Te genotype frequencies for each polymorphism were tested for deviation from the Hardy-Weinberg equilibrium. Results: Gly16 and Glu27 were the most frequent variants found among the cohort (63% and 75%, respectively). Te Ile164 variant was not detected in the study population. Tere was a signifcant linkage disequilibrium between the rs1042713 and rs1042714 SNPs (r2 = 0.209; P ≤0.001). Te most observed haplotypes were Gly16-Gln27 and Arg16-Gln27 (0.37 and 0.38, respectively). Te frequency of Gly16-Glu27 was 0.25, comprising all Glu27 carriers. Conclusion: Te allelic distribution of variants in this Omani cohort was similar to distributions reported among Caucasian populations.
Authors and Affiliations
Khalid Al-Balushi| Departments of 1Pharmacology & Clinical Pharmacy, Fahad Zadjali| Biochemistry, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman, Sawsan Al-Sinani| Department of Laboratory Medicine & Pathology, Royal Hospital, Muscat, Oman, Al-Muatasim Al-Zadjali| Department of Small Animal Health, Directorate General of Veterinary Services, Royal Court Affairs, Muscat, Oman, Riad Bayoumi| Department of Basic Medical Sciences, Dubai Healthcare City, Dubai, United Arab Emirates
Keywords
Related Articles
- EP ID EP14609
- DOI -
- Views 331
- Downloads 13
A Massive Tuberculosis Abscess at the Erector Spinae Muscles and Subcutaneous Tissues in a Young Man
Tuberculosis (TB) is a chronic granulomatous infection which can present in an atypical form. Isolated muscle involvement is very rare. We report a 25-year-old man who presented with a massive cystic swelling on the ri...
Public Knowledge of Oral Cancer and Modelling of Demographic Background Factors Affecting this Knowledge in Khartoum State, Sudan
Objectives: Knowledge of oral cancer affects early detection and diagnosis of this disease. Tis study aimed to assess the current level of public knowledge of oral cancer in Khartoum State, Sudan, and examine how demo...
Professor Christopher Sapara Grant MB.ChB, FRCS, FACS 1942–2013
A Female Child with Skin Lesions and Seizures Case report of Incontinentia Pigmenti
Incontinentia Pigmenti )IP(, )OMIM # 308300(, is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal fndings involving the skin, eyes, hair, nails, teeth, and central nervous system....
Acute Idiopathic Pulmonary Haemorrhage in a 2 month old Infant Case report and review of the literature
Pulmonary haemorrhage is usually secondary to a systemic disease affecting the lung with or without other organ involvement. Idiopathic pulmonary haemorrhage is a diagnosis of exclusion; as described in the literature,...