Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese patients with OSAHS

Chen, Hongbin; Hu, Ke; Jun, Zhu; Xianyu, Yunyan; Cao, Xia; Kang, Jian; He, Jingya; Zhao, Pengzhan; Mei, Yongtian

doi:10.1007/s11325-013-0829-0

Cited by 15 publications

(12 citation statements)

References 28 publications

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“…Another area of research used in sleep disorder breathing is the study of serotonin transporter gene (5-HTT) polymorphism, responsible for the interactions between serotonin and its receptors, in order to control the reuptake of serotonin and the peripheral actions of 5-HT. 38 The encoding 5-HTT gene is located in the 17q11.1-17q12 region of Chromosome 17, as shown in Figure 1. 74 Previous studies have identified two polymorphisms of this gene (5-HTTLPR and 5-HTTVNTR), also illustrated in Figure 1, that influence the intrasynaptic serotonin concentration and are implicated in sleep disorder, psychological diseases, and other associated OSA phenotypes, as seen in Table 1.…”

Section: Serotonin Transporter Genementioning

confidence: 99%

“…This evidence suggests that there is a positive association between OSA and 5-HTT polymorphism and that the allele 10 of 5-HTTVNTR might become a susceptible factor in the development of sleep disorders. 38 Kunugi et al conducted a study that took into account the serotonin transporter gene polymorphism in patients with bipolar affective disorders and found that there are significant ethnic differences between the Chinese Han and European American population in terms of genotype or allele frequencies of 5-HTTLPR and STin2.VNTR in the 5-HTT gene. 75 Similar to the study of Yue et al, which stipulated that the allele 10 repeat of STin2.VNTR was associated with OSA in both total and male subjects and that the L allele showed significant differences between OSA male and male controls, the study of Chen et al revealed same results.…”

Section: Dovepressmentioning

confidence: 99%

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Polymorphism of the Serotonin Transporter Gene and the Peripheral 5-Hydroxytryptamine in Obstructive Sleep Apnea: What Do We Know and What are We Looking for? A Systematic Review of the Literature

Maierean¹,

Bordea²,

Sălăgean³

et al. 2021

NSS

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Background: Obstructive sleep apnea (OSA) is a highly prevalent disease with substantial public health burden. In most of the cases, there is a genetic predisposition to OSA. Serotonin/T-HydroxyTriptamine (5-HT) plays a key role in ventilatory stimulation, while the polymorphism of the serotonin transporter gene (STG) leads to alterations in serotonin level, making it important in OSA. Objective: To examine whether the 5-HydroxyTriptamine and the genetic predisposition influence the incidence and evolution of OSA, we reviewed randomized, controlled trials and observational studies on the selected topic. The secondary objective was to determine the metabolic effects of the circulating serotonin in other tissues (liver, pancreas, gut, brown adipose tissue, and white adipose tissue) and its role in the development of obesity. Data Sources: A systematic review of English articles was performed based on PubMed and the Cochrane Library databases. Search filters included randomized controlled trial, controlled clinical trial, random allocation, double-blind method, and case-control studies and used the following keywords: Brain Serotonin OR Serotonin Transporter Gene Polymorphism OR Peripheral 5-HydroxyTryptamine AND Obstructive Sleep Apnea OR Sleep Disorder Breathing OR brain serotonin AND OSA OR serotonin transporter gene OR Peripheral 5-Hydroxytryptamine AND Sleep. Study Eligibility Criteria: The inclusion criteria for the current review were previous diagnosis of OSA, age above 18 years, and articles including quantitative data about serotonin transporter gene or peripheral serotonin. Language and time criteria were added-English articles published in the last 15 years. Studies that were not included were reviews and case reports. Study Appraisal and Synthesis Methods: In order to study the serotonin function, a literature research was conducted in the databases Pubmed and Cochrane Library. The following search terms were used: serotonin, 5-hydroxytryptamine, serotonin transporter gene. A critical appraisal of the included studies was performed with the Newcastle-Ottawa scale (NOS) and Delphi list. Results: The search yielded 1210 articles, from which 43 were included. The included studies suggest that the two polymorphisms of serotonin transporter gene (5HTT)-variable number of tandem repeats (VNTR) and linked polymorphic region (LPR)-are strong candidates in the pathogenesis of OSA. The allele 10 of 5HTTVNTR and the long/long

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Section: Serotonin Transporter Genementioning

confidence: 99%

Section: Dovepressmentioning

confidence: 99%

Polymorphism of the Serotonin Transporter Gene and the Peripheral 5-Hydroxytryptamine in Obstructive Sleep Apnea: What Do We Know and What are We Looking for? A Systematic Review of the Literature

Maierean¹,

Bordea²,

Sălăgean³

et al. 2021

NSS

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“…In summary, for outcomes >1 available study, a meta-analysis was performed for polymorphisms such as angiotensin-converting enzyme insertion/deletion (ACE I/D)[ 28 – 35 ], tumor necrosis factor (TNF)-α-308G/A[ 27 , 36 – 39 ], interleukin (IL)-6[ 40 , 41 ], 5-hydroxytryptamine receptor (5-HTR) 2A-102T/C[ 42 – 44 ] and -1438G/A[ 42 – 45 ], 5-HTR2C-796 C/G[ 42 , 44 ], 5-hydroxytryptamine transporter gene-linked promoter region (5-HTTLPR)[ 36 , 45 – 47 ], 5-HTT variable number tandem repeat (5-HTTVNTR)[ 44 – 47 ], leptin receptor (LEPR) Gln223Arg[ 48 – 50 ], peroxisome proliferator-activated receptor (PPAR-γ) Pro12Ala[ 51 , 52 ], apolipoprotein E (APOE) ε2/ε4[ 53 , 54 ], β1-adrenergic receptor (ADRB1)[ 55 , 56 ] and ADRB2[ 55 , 57 ]. Candidate genes identified from included studies were summarized in Table 1 .…”

Section: Resultsmentioning

confidence: 99%

Obstructive Sleep Apnea Susceptibility Genes in Chinese Population: A Field Synopsis and Meta-Analysis of Genetic Association Studies

Sun

et al. 2015

PLoS ONE

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BackgroundEpidemiological studies to date have evaluated the association between genetic variants and the susceptibility to obstructive sleep apnea (OSA). However, the results of these studies have been inconclusive. In this current study we performed meta-analysis of genetic association studies (GAS) to pool OSA-susceptible genes in Chinese population, to perform a more precise evaluation of the association.MethodsVarious databases (i.e., PubMed, EMBASE, HuGE Navigator, Wanfang and CNKI) were searched to identify all eligible GAS-related variants associated with susceptibility to OSA. The generalized odds ratio metric (ORG) and the odds ratio (OR) of the allele contrast were used to quantify the impact of genetic variants on the risk of OSA. Cumulative and recursive cumulative meta-analyses (CMA) were also performed to investigate the trend and stability of effect sizes as evidence was accumulated.ResultsThirty-two GAS evaluating 13 polymorphisms in 10 genes were included in our meta-analysis. Significant associations were derived for four polymorphisms either for the allele contrast or for the ORG. The variants TNF-α-308G/A, 5-HTTLPR, 5-HTTVNTR, and APOE showed marginal significance for ORG (95% confidence interval [CI]): 2.01(1.31–3.07); 1.31(1.09–1.58); 1.85(1.16–2.95); 1.79(1.10–2.92); and 1.79(1.10–2.92) respectively. In addition, the TNF-α-308G/A, 5-HTTLPR, and 5-HTTVNTR variants showed significance for the allele contrast: 2.15(1.39–3.31); 2.26(1.58–3.24); 1.32(1.12–1.55); and 1.86(1.12–3.08) respectively. CMA showed a trend towards an association, and recursive CMA indicated that more evidence was needed to determine whether this was significant.ConclusionsTNF-α, 5-HTT, and APOE genes can all be proposed as OSA-susceptibility genes in Chinese population. Genome-wide association studies (GWAS) are therefore urgently needed to confirm our findings within a larger sample of OSA patients in China.

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“…Certain studies have been conducted to investigate the association of OSAHS with the polymorphisms of the 5-HTR2A genes with the 'T' and 'C' allele. Bayazit et al (17) reported on Turkish patients with OSAS, de Carvalho et al (18) reported on Brazilian patients with OSAS, Sakai et al (19) reported on Japanese patients with OSA, and Chen et al (20) and Yin et al (21), reported on Chinese patients with OSAS. All these studies showed that genotypes and allele frequencies of the T102C (rs6311) polymorphism of 5-HTR2A did not significantly increase the OSAS risk.…”

Section: Male N (%) Female N (%) ----------------------------------mentioning

confidence: 99%

5-HTR2A and IL-6 polymorphisms and obstructive sleep apnea-hypopnea syndrome

Tang

et al. 2015

Biomedical Reports

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Abstract. At present, variants of the 5-hydroxytryptamine receptor 2A (5-HTR2A) and interleukin-6 (IL-6) genes may be susceptible markers to develop for obstructive sleep apnea-hypopnea syndrome (OSAHS). Therefore, the aim of the present study was to explore the potential associations between the 5-HTR2A and IL-6 single-nucleotide polymorphisms (SNPs) and OSAHS. In total there were 130 cases and 136 controls collected for genotyping of 5-HTR2A (rs6311) and IL-6 (rs1800796) SNPs. The association of these SNPs with OSAHS risk were evaluated by computing the odds ratio (OR) and 95% confidence interval (CI) from multivariate unconditional logistic regression analyses with adjustment for gender and age. The results indicated that the genotype and allele frequencies in these two loci (rs6311 and rs1800796) were not significantly different between the cases and controls. However, carrying the 'C' allele of rs6311 has a protective effect against OSAHS via the gender-specific comparison (P=0.0409; OR, 1.744; 95% CI, 1.021-2.978). The 'G' allele and 'CG' genotype distribution of rs1800796, and 'C' allele and 'CT' genotype distribution of rs6311 have significant differences between the mild and moderate group (P<0.05). Similarly, the genotype distribution of rs6311 has differences between mild and severe cases (P=0.0026). The current research demonstrated that variants of rs6311 have an association with OSAHS in males. Additionally, polymorphisms of rs6311 and rs1800796 have relevance to the severity of OSAHS.

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Polymorphisms of the 5-hydroxytryptamine 2A/2C receptor genes and 5-hydroxytryptamine transporter gene in Chinese patients with OSAHS

Cited by 15 publications

References 28 publications

Polymorphism of the Serotonin Transporter Gene and the Peripheral 5-Hydroxytryptamine in Obstructive Sleep Apnea: What Do We Know and What are We Looking for? A Systematic Review of the Literature

Polymorphism of the Serotonin Transporter Gene and the Peripheral 5-Hydroxytryptamine in Obstructive Sleep Apnea: What Do We Know and What are We Looking for? A Systematic Review of the Literature

Obstructive Sleep Apnea Susceptibility Genes in Chinese Population: A Field Synopsis and Meta-Analysis of Genetic Association Studies

5-HTR2A and IL-6 polymorphisms and obstructive sleep apnea-hypopnea syndrome

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