Regulation of Vascular Thrombosis in Sleep Apnea
Regulation of Vascular Thrombosis in Sleep Apnea
Sleep Apnea is a prevalent condition that has been increasingly diagnosed in the adult
 population and is now considered an independent risk factor for the development of
 cardiovascular disease. A better understanding of the mechanisms associated with the
 development of cardiovascular disease in sleep apnea is needed.

 This research will investigate the function of the adenosine deaminase (ADA) in subjects with
 sleep disorders. This enzyme is responsible for metabolizing adenosine, a neuromodulator that
 is released during periods of sleep apnea and that has been found to promote vascular
 thrombosis. There are multiple types of ADA that are genetically determined and have
 different levels of function. Those different forms of this enzyme may determine groups that
 are more susceptible to the development of thrombosis. Given the known association between
 sleep apnea and thrombosis, this study will determine if polymorphisms of this enzyme are
 differentially found in subjects with sleep apnea as compared to other sleep disturbances.
 The overall objective of this experiment is to assess the presence of ADA polymorphisms in
 sleep apnea.
Obstructive Sleep Apnea (OSA) is a prevalent condition that has been increasingly diagnosed
 in the adult population and is now considered an independent risk factor for the development
 of cardiovascular disease. More specifically, OSA has been linked with thrombosis, or the
 formation of clots in the blood vessels which can lead to heart attack or stroke. A better
 understanding of the mechanisms associated with thrombosis and the development of
 cardiovascular disease in patients with obstructive sleep apnea is needed.

 This research will investigate the function of the enzyme adenosine deaminase (ADA) in
 subjects with sleep disorders. ADA is responsible for metabolizing adenosine, a
 neuromodulator that is released during periods of sleep apnea and that has been found to
 promote vascular thrombosis. There are multiple types of ADA that are genetically determined
 and have different levels of function. Those different forms of this enzyme may determine
 groups that are more susceptible to the development of thrombosis. Given the known
 association between sleep apnea and thrombosis, this study will determine if polymorphisms of
 this enzyme are differentially found in subjects with sleep apnea as compared to other sleep
 disturbances.

 A total of 60 subjects presenting for the evaluation of sleep disorders to the Weill Cornell
 Pulmonary Associates and the Cornell Center for Sleep Medicine practices will be offered
 participation in this study. The subjects with sleep apnea will be ethnically matched to the
 subjects with sleep disorders other than sleep apnea (controls). Once written informed
 consent is obtained by the Principal Investigator, venipuncture will be performed in the
 office by a trained phlebotomist. A total of 15 ml (approximately 1 tablespoon) of blood will
 be collected. The patient will be monitored for ten minutes following the blood draw to
 ensure adequate hemostasis. The blood samples will be utilized for DNA sequencing and
 determination of adenosine deaminase genotype and phenotype.

 Information from clinically indicated overnight sleep studies performed within 6 months of
 (prior or after) the visit will be used to categorize subjects into groups (sleep apnea vs.
 sleep disorder other than sleep apnea).
Inclusion Criteria:

 -  21 years or older

 -  Patient of the Weill Cornell Pulmonary Associates and Cornell Center for Sleep
 Medicine practices

 -  Clinically indicated for an overnight sleep study within six months prior to or after
 the outpatient office visit

 Exclusion Criteria:

 -  Pregnancy