The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish Population

Genet Test Mol Biomarkers. 2024 Apr;28(4):159-164. doi: 10.1089/gtmb.2023.0272.

Abstract

Introduction: Sleep is one of the most significant parts of everyone's life. Most people sleep for about one-third of their lives. Sleep disorders negatively impact the quality of life. Obstructive sleep apnea (OSA) is a severe sleep disorder that significantly impacts the patient's life and their family members. This study aimed to investigate the relationship between rs6313 and rs6311 polymorphisms in the serotonin receptor type 2A gene and OSA in the Kurdish population. Materials and Methods: The study's population comprises 100 OSA sufferers and 100 healthy people. Polysomnography diagnostic tests were done on both the patient and control groups. The polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) was used to investigate the relationship between OSA and LEPR gene polymorphisms. Results: Statistical analysis showed a significant relationship between genotype frequencies of patient and control groups of rs6311 with OSA in dominant [odds ratio (OR) = 5.203, p < 0.001) and codominant models (OR = 9.7, p < 0.001). Also, there was a significant relationship between genotype frequencies of patient and control groups of rs6313 with OSA in dominant (OR = 10.565, p < 0.001) and codominant models (OR = 5.938, p < 0.001). Conclusions: Findings from the study demonstrated that the two polymorphisms rs6311 and rs6313 could be effective at causing OSA; however, there was no correlation between the severity of the disease and either of the two polymorphisms.

Keywords: 5-hydroxytryptamine receptor 2A; obstructive sleep apnea; rs6311; rs6313.

MeSH terms

  • Adult
  • Alleles
  • Case-Control Studies
  • Female
  • Gene Frequency* / genetics
  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Iran
  • Male
  • Middle Aged
  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Single Nucleotide* / genetics
  • Polysomnography / methods
  • Receptor, Serotonin, 5-HT2A* / genetics
  • Receptors, Leptin / genetics
  • Sleep Apnea, Obstructive* / genetics

Substances

  • Receptor, Serotonin, 5-HT2A
  • HTR2A protein, human
  • Receptors, Leptin
  • LEPR protein, human