Frequency of Human Leukocyte Antigens, Plasminogen Activator Inhibitor-1 and Methylenetetrahydrofolate Reductase Gene Polymorphisms in Obstructive Sleep Apnea-Hypopnea Syndrome with or without Pulmonary Artery Hypertension
|Domenico Maurizio Toraldo1*, Francesco De Nuccio2, Salvatore Mauro3, Francesco Spirito4, Alessandro Distante5 and Giuseppe Nicolardi2|
|1Department of Rehabilitation, Unit Care Respiratory, ASL/Lecce, Italy|
|2Laboratory of Human Anatomy and Neuroscience, Department of Biological and Environmental Sciences and Technologies, University of Salento, Italy|
|3Laboratory of Genetic, “Vito Fazzi”, ASL Lecce, Italy|
|4Division of Cardiovascular disease, City of Lecce Hospital, Lecce, Italy|
|5ISBEM Research Institute, Medical School of University of Pisa, Pisa, Italy|
|Corresponding Author :||Domenico M Toraldo
Department of Rehabilitation, Unit Care Respiratory
ASL/Lecce, via a.c. Casetti n. 2 Zip Code 73100, Italy
E-mail: [email protected]
|Received July 04, 2013; Accepted July 26, 2013; Published August 01, 2013|
|Citation: Toraldo DM, Nuccio FD, Mauro S, Spirito F, Distante A, et al. (2013) Frequency of Human Leukocyte Antigens, Plasminogen Activator Inhibitor-1 and Methylenetetrahydrofolate Reductase Gene Polymorphisms in Obstructive Sleep Apnea-Hypopnea Syndrome with or without Pulmonary Artery Hypertension. J Sleep Disord Ther 2:131. doi:|
|Copyright: © 2013 Toraldo DM, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.|
Background: The aim of this study was to investigate relationships between the genotypic frequencies of genes F5-coagulation factor V (proaccelerin, labile factor), F2-coagulation factor II (thrombin), MTHFRmethylenetetrahydrofolate reductase (NADPH), PAI-1 - plasminogen activator inhibitor-1, the frequencies of HLA haplotypes DQ2/DR3, DQ2/DR7, DQ8/DR4, 5, DQ7/DR5 and clinical features and severity of OSAS in comparison to a control population of 163 patients without OSAS.
Methods and results: Eighty-two consecutive outpatients with OSAS were enrolled in the respiratory, cardio, and genetic study. By means of cluster analysis it was shown that 40% of patients with PAI-1 5G/5G polymorphism had pulmonary artery hypertension, with a mean value of 46 mm Hg, and also 40% of OSAS patients with pulmonary artery hypertension had PAI-1 5G/5G polymorphism, 50% had 4G/5G and 10% had 4G/4G; as regards OSAS patients without PH, 8.95% only had PAI-1 5G/5G polymorphism, 22.38% had PAI-1 4G/4G and 67.16% had PAI- 1 4G/5G. PAI-1 polimorphisms were detected by RDB techniques. Moreover, these patients with OSAS showed HLA haplotypes polymorphism: DQ7 (40%), DQ2.5 (20%) and DQ2.2 (10%). Nevertheless, OSAS patients without PAH showed HLA polymorphism as follows: DQ7 (47, 76%); DQ2.5 (8.95%); DQ2.2 (16.41%). OSAS patients with pulmonary hypertension were 12.99 % of all OSAS patients. HLA polymorphism was analyzed by PCR amplification and gel electrophoresis.
Conclusions: Our results suggested a genotypic heterogeneity among OSAS patients PAI-1 5G/5G polymorphism with PAH possibly in relation with severity of the disease.