The Relationship between Obstructive Sleep Apnea and Gln223Arg Polymorphism in Human Leptin Receptor Gene

Year 2017, , 43 - 50, 27.12.2017

Serkan Kuccukturk , Sebnem Yosunkaya Hacer Kuzu Okur Seyit Ali Kayis Sennur Demirel Hasibe Cingilli Vural

https://doi.org/10.5152/EurJBiol.2017.1708

Abstract

Leptin is derived from an adipocyte and
acts through the leptin receptor (LEPR). Gln223Arg polymorphism of the LEPR
gene is thought to be associated with impaired signaling capacity of LEPR and
with higher mean circulating levels of leptin and obesity; therefore, it may
contribute to the pathogenesis of obstructive sleep apnea syndrome (OSAS). The
aim of this study was to investigate the frequency of distribution of LEPR gene
polymorphism (Gln223Arg) in OSAS patients in relation to polysomnographic
traits and phenotype.

In total, 230 men (152 OSAS patients and 78
controls) were included in the study. All participants were evaluated by
polysomnography in addition to anthropometric, metabolic, and hemodynamic
variables. The relationship between these phenotypes and polymorphism of the
LEPR gene was investigated by PCR-RFLP.

There was no difference between the
genotype frequencies of the Gln223Arg polymorphism in the OSAS and control
groups. However, OSAS patients carrying the R allele (RR and QR genotypes) had
significantly lower Body Mass Index (BMI) than those carrying the Q allele
(QQ). OSAS patients with the RR genotype had a significantly lower diastolic
blood pressure value than those with the QQ and QR genotypes. When all
participants were grouped by blood pressure, the genotype frequency of RR
individuals was more prevalent among normotensive men compared to hypertensive
men.

Gln223Arg
polymorphism of LEPR does not seem to be associated with OSAS. This
polymorphism may, however, predispose the carrier to reduced BMI and blood
pressure. Further studies are needed to unveil the genetic basis of OSAS
pathophysiology.

Keywords

Blood pressure, gln223arg, leptin receptor polymorphism, leptin, obstructive sleep apnea, obstructive sleep apnea

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