Background Fibromyalgia is a chronic pain syndrome, characterized by widespread pain and tenderness at spesific anatomical localizations.
Objectives The purpose is investigating candidate genes related to the serotonergic system which is thought to be responsible for the pathophysiology of primer fibromyalgia and the validity of serotonin receptor gene polymorphisms for the Turkish society.
Methods Ninety-six female patients diagnosed with fibromyalgia according to 1990 and 2010 ACR criteria and 96 healthy controls were included in the study. A detailed medical history of the patients were taken, the symptoms were questioned. Assessment of disease activity and functional status were performed with tender point examination and assessment of the severity of the pain, Fibromyalgia Impact Questionnaire. A total of 192 blood samples were taken from the patient and the control group and isolation of DNA was performed. Primer design for serotonin receptor gene was done, the products derived from polymerase chain reaction were cleaned. The analysis of sequence results after the sequence reaction and statistical evaluation were performed.
Results The regions of serotonin receptor 2A gene were analyzed. According to the analysis, E318E mutation occurring at amino acid 318 which has not caused a change in any amino acid, and V143V mutation which has not caused a change at amino acid 143 were detected for the first time. A similar number of heterozygous polymorphic allele of rs35224115 single-nucleotide polymorphism were found in the patient and control groups. Although, Rs6305 was found as polymorphic heterozygous in 7 samples in the patient grup, it was found in 3 samples in the control group. Although, Rs6314 was found in 3 samples as polymorphic heterozygous in the control group, it was found in 16 samples in the patient group. The difference between the two groups in terms of the incidence of heterozygous allele was statistically significant according to chi-square test (p=0.002).
Conclusions In our study that we investigate the relationship between fibromyalgia and the exons of serotonin receptor 2A gene which are the protein-coding regions, we found that rs6314 polymorphism associated with the disease. This relationship is a result which can be used and developed for diagnostic and treatment process. We also determined two new possible polymorphism single base change (E318E, V143V), but we did not find any relationship with the fibromyalgia syndrome. We determined that, there was no differce in terms of other known polymorphisms between patients and controls.
Disclosure of Interest None declared