alexa 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
ISSN: 2167-0277

Journal of Sleep Disorders & Therapy
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Research Article

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
Tel: +393358022958
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.

Abstract

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.

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