Association of Serotonin Transporter Gene Polymorphism with Obstructive Sleep Apnea Syndrome

Ylmaz, Metin; Bayazıt, Yıldırım A.; Çiftçi, Tansu Ulukavak; Erdal, Mehmet Emin; Urhan, Meral; Köktürk, Oğuz; Kemaloğlu, Yusuf Kemal; İnal, Erdoğan

doi:10.1097/01.mlg.0000157334.88700.e6

Cited by 37 publications

(34 citation statements)

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“…The comparison of genotypes with gender was done because of a higher prevalence of OSAS in males, as shown in the literature. 1,6,9,19 There was no correlation between the AHI (obtained during polysomnography) and the genotypes of both polymorphisms in index cases, which again concurs with the literature. 8,9 This condition may suggest that other mechanisms besides 5-HTR2A gene polymorphisms may be involved in the pathophysiology of OSAS.…”

Section: Resultssupporting

confidence: 90%

“…This criterion was followed strictly so that no patient with only a clinical exclusion diagnosis of OSAS is included in the control group, as was done in other published studies. 6,8,9 The OSAS is more frequent in men of all age groups, although the prevalence increases with age. 1 As in the literature, we found a higher prevalence of index…”

Section: Discussionmentioning

confidence: 99%

“…[2][3][4][5] Changes in central nervous control of upper airway muscles are considered an important component of this syndrome. 6 The genioglossus muscle is innervated by neurons that originate in the hypoglossal nucleus within the brainstem; contractions of this muscle during inspiration help ventilate the lungs and keep upper airways open during wakefulness and sleep. 7,8 Groups of serotonergic and noradrenergic cells may generate parallel patterns by stimulating directly the motor cells of the hypoglossal nerve, thereby regulating these dilating muscles.…”

Section: Introductionmentioning

confidence: 99%

“…Changes in the serotonergic system have been implied in several human diseases such as depression, headaches, epilepsy, obsessive-compulsive behaviors, temporomandibular dysfunction, and affective disorders. [6][7][8][9] Serotonin also has a relevant role in upper airway patency, as it excites airway motor neurons and intrinsically excites the motor neurons in the brainstem. The activity of neurons that provide 5-HT to motor neurons declines with sleep; most of the functional studies have shown that 5-HT and serotonergic neurons exert a significant excitatory effect on respiratory motor neurons in vivo and in vitro.…”

Section: Introductionmentioning

confidence: 99%

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Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome

Piatto

Carvalho

Marchi

et al. 2011

Braz. j. otorhinolaryngol. (Impr.)

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Obstructive sleep apnea syndrome (OSAS) is one of the most complex disorders of sleep; it involves several genetic factors that contribute to the phenotype. Serotonin (5-HT) regulates a variety of visceral and physiological functions, including sleep. Gene 5-HTR2A polymorphisms may change the transcription of several receptors in the serotoninergic system, thereby contributing to OSAS. Aim To investigate the prevalence of T102C and -1438G/A polymorphisms in the 5-HTR2A gene of patients with and without OSAS. Material and Method A molecular study of 100 index-cases and 100 controls of both genders. DNA was extracted from blood leukocytes samples and the regions that enclose both polymorphisms were amplified with PCR-RFLP. Study design A cross-sectional case study. Results There was a significant prevalence of males in index cases compared to controls (p<0.0001). No significant genotypic differences between cases and controls were found in T102C polymorphisms ( p =1.000). There were significant differences between the AA genotype of -1438G/A polymorphisms and patients with OSAS (OR:2.3; CI95%:1.20-4.38, p =0.01). Conclusion Serotonergic mechanisms may be related to OSAS. There were no differences in the prevalence of T102C polymorphisms in patients with OSAS and the control group. There is evidence of an association between the -1438G/A polymorphism and OSAS.

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Section: Resultssupporting

confidence: 90%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome

Piatto

Carvalho

Marchi

et al. 2011

Braz. j. otorhinolaryngol. (Impr.)

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“…2 Although the underlying mechanisms of sleep apnea/hypopnea remain unknown, altered central nervous system control of upper airway muscles is an important component of this syndrome. 3 The pathogenesis involves collapse of upper airways; for normal breathings, its patency depends on a specific dilator muscle. The genioglossus -one of the upper airway muscles -is the main extrinsic muscle for tongue protrusion; it is innervated by the hypoglossal nerve.…”

Section: Introductionmentioning

confidence: 99%

Avaliação dos níveis séricos de testosterona em pacientes com síndrome da apneia obstrutiva do sono

Molina¹,

Suman

Carvalho

et al. 2011

Braz. j. otorhinolaryngol. (Impr.)

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Mal es with obstructive sleep apnea syndrome (OSAS) may present decreased testosterone serum levels because of hypoxemia. Aim:To correlate testosterone levels in OSAS patients with laboratory parameters. Material and methods:103 registries of OSAS patients were reviewed from 2002 to 2009. The following data collected: age when polysomnography was done, hematocrit and hemoglobin levels, total testosterone serum levels, BMI, apnea/hypopnea index (AHI), and O2 saturation.Study Design: A cross-sectional retrospective case study.Results: 79 patients (77%) had no hormonal changes, and 24 patients (23%) had decreased serum levels. In patients with normal testosterone levels, 70% were overweight; 63% with altered testosterone levels had obesity grade I (p<0.05). Patients with altered testosterone levels had significantly lower average doses of Ht, Hb and androgen compared to patients without altered androgen levels. The average BMI of patients with altered hormone levels was significantly higher compared to patients with normal hormone levels. Conclusions:The relationship between morning testosterone levels and obesity, and to a lesser degree age, AHI and hypoxemia may be the cause of central suppression of testosterone in these patients. Decreased blood HT and HB levels may be related to lower levels of circulating testosterone. Braz J Otorhinolaryngol. 2011;77(1):88-95. BJORL ORIGINAL ARTICLE

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Serotonin transporter polymorphism is associated with increased apnea–hypopnea index in older adults

Schröder

Primeau

Hallmayer

et al. 2013

Int J Geriat Psychiatry

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Rationale A functional polymorphism of the serotonin transporter gene (5-HTTLPR) has previously been related to upper airway pathology, but its contribution to obstructive sleep apnea (OSA), a highly prevalent sleep disorder in older adults, remains unclear. Objectives We aimed to investigate the relationship between Apnea-Hypopnea Index (AHI) and genetic variations in the promoter region of the 5-HTTLPR in older adults. Methods and Measurements DNA samples from 94 community-dwelling older adults (57% female, mean age 72±8) were genotyped for the 5-HTTLPR polymorphism. All participants were assessed in their homes with full ambulatory polysomnography, in order to determine AHI and related parameters such as hypoxia, sleep fragmentation, and self-reported daytime sleepiness. Main Results The 5-HTT l allele was significantly associated with AHI (p=0.019), with l allele carriers displaying a higher Apnea-Hypopnea Index than s allele homozygotes. A single allele change in 5-HTTLPR genotype from s to l resulted in an increase of AHI by 4.46 per hour of sleep (95% CI, 0.75-8.17). The l allele was also associated with increased time during sleep spent at oxygen saturation levels below 90% (p=0.014). Conclusions The observed significant association between the 5-HTTLPR l allele and severity of OSA in older adults suggests that the l allele may be important to consider when assessing for OSA in this age group. This association may also explain some of the observed variability among serotonergic pharmacological treatment studies for OSA, and 5-HTT genotype status may have to be taken into account in future therapeutic trials involving serotonergic agents.

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Association of Serotonin Transporter Gene Polymorphism with Obstructive Sleep Apnea Syndrome

Cited by 37 publications

References 24 publications

Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome

Polymorphisms in the 5-HTR2A gene related to obstructive sleep apnea syndrome

Avaliação dos níveis séricos de testosterona em pacientes com síndrome da apneia obstrutiva do sono

Serotonin transporter polymorphism is associated with increased apnea–hypopnea index in older adults

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