Role Q223R polymorphism of LEPR gene as genetic predictor for overlap syndrome (obstructive sleep apnea / hypopnea syndrome and chronic obstructive pulmonary disease)
https://doi.org/10.25557/2073-7998.2020.01.46-54
Abstract
Comorbidity of obstructive sleep apnea / hypopnea syndrome (OSAHS) and chronic obstructive pulmonary disease (COPD) is defined as overlap syndrome and is a state of mutual aggravation characterized by an accelerated development of pulmonary hypertension and chronic respiratory failure, as well as a high risk of sudden death in sleep. At the same time, obesity is one of the most significant and independent risk factors for the development of OSAHS. The aim of the study was to identify the role of the leptin receptor gene LEPR single nucleotide polymorphism (SNP) Q223R (rs1137101) in the development of overlap syndrome. A total of 134 people (73,1% of men and 26,9% of women) aged 60 [53; 65] years were examined, 66 of them with OSAHS, 30 patients with a diagnosis of COPD, and 38 with comorbidity of both forms of pathology. It was shown that the carriage of both the polymorphic G allele and the GG genotype is not a risk factor for the development of OSAHS in patients with COPD (p = 0,92) and does not correlate with the severity of both nosologies, but is statistically significantly associated with the formation of obesity 2 degrees (p < 0,05). The findings suggest that among the residents of the Krasnoyarsk Territory, the study of SNP Q223R of the LEPR gene cannot be used as a genetic predictor of the formation of overlap syndrome.
About the Authors
S. N. Zobova
Krasnoyarsk State Medical University n.a. V.F. Voyno-Yasenetsky; Scientific Research Institute of Medical Problems of the North, Krasnoyarsk Research Center, Siberian Division of Russian Academy of Sciences
Russian Federation
Krasnoyarsk
Russian Federation
Krasnoyarsk
O. V. Alekseeva
Krasnoyarsk State Medical University n.a. V.F. Voyno-Yasenetsky
Russian Federation
Russian Federation
Alekseeva Olga
Krasnoyarsk
N. A. Shnayder
Krasnoyarsk State Medical University n.a. V.F. Voyno-Yasenetsky; National Research Medical Center for Psychiatry and Neurology n.a. V.M. Bekhterev
Russian Federation
Krasnoyarsk
Saint Petersburg
Russian Federation
Krasnoyarsk
Saint Petersburg
I. V. Demko
Krasnoyarsk State Medical University n.a. V.F. Voyno-Yasenetsky
Russian Federation
Krasnoyarsk
Russian Federation
Krasnoyarsk
T. I. Prusova
Krasnoyarsk State Medical University n.a. V.F. Voyno-Yasenetsky
Russian Federation
Krasnoyarsk
Russian Federation
Krasnoyarsk
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Review
For citations:
Zobova S.N., Alekseeva O.V., Shnayder N.A., Demko I.V., Prusova T.I. Role Q223R polymorphism of LEPR gene as genetic predictor for overlap syndrome (obstructive sleep apnea / hypopnea syndrome and chronic obstructive pulmonary disease). Medical Genetics. 2020;19(1):46-54. (In Russ.) https://doi.org/10.25557/2073-7998.2020.01.46-54
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