4 research outputs found
Π€ΡΠ½ΠΊΡΠΈΠΎΠ½Π°Π»ΡΠ½ΡΠΉ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌ ΡΡΠ°Π½ΡΠΏΠΎΡΡΠ΅ΡΠ° ΠΎΠ±ΡΠ°ΡΠ½ΠΎΠ³ΠΎ Π·Π°Ρ Π²Π°ΡΠ° ΡΠ΅ΡΠΎΡΠΎΠ½ΠΈΠ½Π° Π³Π΅Π½Π° SLC6A4 ΠΏΡΠΈ ΡΠ°Π·Π»ΠΈΡΠ½ΡΡ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ Π²Π°ΡΠΈΠ°Π½ΡΠ°Ρ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΡΠ°Π·Π΄ΡΠ°ΠΆΠ΅Π½Π½ΠΎΠ³ΠΎ ΠΊΠΈΡΠ΅ΡΠ½ΠΈΠΊΠ°
Rationale: Irritable bowel syndrome (IBS) is a multifactorial disease, the genetic aspect of which is being actively studied.Aim: To investigate functional polymorphism of the serotonin reuptake transporter (SERT) SLC6A4 gene of various clinical variants of IBS.Materials and methods: We performed a cross-sectional single center study in 79 Caucasian patients with IBS (according to the Rome criteria IV). The patients were divided into two groups: group 1, IBS with diarrhea (IBS-D, n = 45) and group 2, IBS with constipation (IBS-C, n = 34). The control group included 59 Caucasian patients with gastrointestinal disorders without IBS. Polymorphism 5-HTTLPR of the SLC6A4 gene was assessed in all subjects. In group 1 patients, blood serotonin levels were measured and psychological tests were performed, including Spielberger's State / Trait Anxiety Inventory, quality of life by SF36 and GSRS, Asthenia scale, VAS scores for pain intensity.Results: Thirty-five of 45 (77.8%) patients with IBS-D carried the mutant S allele, which was significantly more frequent than in the IBS-C group (p = 0.002) and in the control group (p = 0.005). There were no statistically significant differences (p = 0.54) in the frequency of detection of the homozygous LL genotype (normal allele) and the heteroand homozygous mutant alleles (SL and SS) genotype between the IBS-C and control patients. In the IBS-D group, a gender difference for the mutant SS allele of 5-HTTLPR was found, with significantly higher frequency in female patients (p = 0.0147). No significant gender differences in the genotype distribution between the patients with IBS-C and the control group were found. There were also no differences in blood serotonin levels in the IBS patients with various 5-HTTLPR types (p = 0.086); they were all in the reference range. However, there was a trend towards lower serotonin levels in the LL genotype carriers compared to those with the SS/SL polymorphisms. The Gastroenterological inventory GSRS demonstrated significantly higher total score for the constipation syndrome in the patients with homozygous LL 5-HTTLPR polymorphism, compared to that in the patients with the SS/SL genotype (p = 0.013).Conclusion: The results may be related to lower expression of the SLC6A4 gene in the carriers of the mutant allele in the 5-HTTLPR promoter and subsequent decreased rate of serotonin uptake, with resulting stimulation of the gastrointestinal tract. The SERT polymorphism of the SLC6A4 gene is worth further investigation as a potential candidate gene in the IBS pathophysiology.ΠΠΊΡΡΠ°Π»ΡΠ½ΠΎΡΡΡ. Π‘ΠΈΠ½Π΄ΡΠΎΠΌ ΡΠ°Π·Π΄ΡΠ°ΠΆΠ΅Π½Π½ΠΎΠ³ΠΎ ΠΊΠΈΡΠ΅ΡΠ½ΠΈΠΊΠ° (Π‘Π Π) ΠΎΡΠ½ΠΎΡΠΈΡΡΡ ΠΊ ΠΌΠ½ΠΎΠ³ΠΎΡΠ°ΠΊΡΠΎΡΠ½ΡΠΌ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΡΠΌ, Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠΉ Π°ΡΠΏΠ΅ΠΊΡ ΠΊΠΎΡΠΎΡΡΡ
Π½Π°Ρ
ΠΎΠ΄ΠΈΡΡΡ Π² ΡΠΎΠΊΡΡΠ΅ Π²Π½ΠΈΠΌΠ°Π½ΠΈΡ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°ΡΠ΅Π»Π΅ΠΉ.Π¦Π΅Π»Ρ β ΠΈΠ·ΡΡΠΈΡΡ ΡΡΠ½ΠΊΡΠΈΠΎΠ½Π°Π»ΡΠ½ΡΠΉ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌ ΡΡΠ°Π½ΡΠΏΠΎΡΡΠ΅ΡΠ° ΠΎΠ±ΡΠ°ΡΠ½ΠΎΠ³ΠΎ Π·Π°Ρ
Π²Π°ΡΠ° ΡΠ΅ΡΠΎΡΠΎΠ½ΠΈΠ½Π° Π³Π΅Π½Π° SLC6A4 ΠΏΡΠΈ ΡΠ°Π·Π½ΡΡ
ΡΠΎΡΠΌΠ°Ρ
Π‘Π Π.ΠΠ°ΡΠ΅ΡΠΈΠ°Π» ΠΈ ΠΌΠ΅ΡΠΎΠ΄Ρ. ΠΡΠΎΠ²Π΅Π΄Π΅Π½ΠΎ ΠΏΠΎΠΏΠ΅ΡΠ΅ΡΠ½ΠΎΠ΅ (ΠΎΠ΄Π½ΠΎΠΌΠΎΠΌΠ΅Π½ΡΠ½ΠΎΠ΅) ΠΎΠ΄Π½ΠΎΡΠ΅Π½ΡΡΠΎΠ²ΠΎΠ΅ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠ΅. ΠΡΠ½ΠΎΠ²Π½ΡΡ Π³ΡΡΠΏΠΏΡ ΡΠΎΡΡΠ°Π²ΠΈΠ»ΠΈ 79 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Π΅Π²ΡΠΎΠΏΠ΅ΠΎΠΈΠ΄Π½ΠΎΠΉ ΡΠ°ΡΡ Ρ Π΄ΠΈΠ°Π³Π½ΠΎΠ·ΠΎΠΌ Π‘Π Π (ΡΡΡΠ°Π½ΠΎΠ²Π»Π΅Π½ Π² ΡΠΎΠΎΡΠ²Π΅ΡΡΡΠ²ΠΈΠΈ Ρ Π ΠΈΠΌΡΠΊΠΈΠΌΠΈ ΠΊΡΠΈΡΠ΅ΡΠΈΡΠΌΠΈ IV ΠΏΠ΅ΡΠ΅ΡΠΌΠΎΡΡΠ°), ΠΊΠΎΡΠΎΡΡΡ
ΡΠ°ΡΠΏΡΠ΅Π΄Π΅Π»ΠΈΠ»ΠΈ Π½Π° 2 ΠΏΠΎΠ΄Π³ΡΡΠΏΠΏΡ: Π‘Π Π Ρ ΠΏΡΠ΅ΠΎΠ±Π»Π°Π΄Π°Π½ΠΈΠ΅ΠΌ Π΄ΠΈΠ°ΡΠ΅ΠΈ (Π‘Π Π-Π, n = 45) ΠΈ Π‘Π Π Ρ ΠΏΡΠ΅ΠΎΠ±Π»Π°Π΄Π°Π½ΠΈΠ΅ΠΌ Π·Π°ΠΏΠΎΡΠΎΠ² (Π‘Π Π-Π, n = 34). Π ΠΊΠΎΠ½ΡΡΠΎΠ»ΡΠ½ΡΡ Π³ΡΡΠΏΠΏΡ Π²ΠΎΡΠ»ΠΈ 59 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Π΅Π²ΡΠΎΠΏΠ΅ΠΎΠΈΠ΄Π½ΠΎΠΉ ΡΠ°ΡΡ Π³Π°ΡΡΡΠΎΡΠ½ΡΠ΅ΡΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΏΡΠΎΡΠΈΠ»Ρ Π±Π΅Π· Π‘Π Π. ΠΡΠ΅ΠΌ Π²ΠΊΠ»ΡΡΠ΅Π½Π½ΡΠΌ Π² ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠ΅ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠ°ΠΌ ΠΏΡΠΎΠ²ΠΎΠ΄ΠΈΠ»ΡΡ Π³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΈΠΉ Π°Π½Π°Π»ΠΈΠ· Ρ ΡΠ΅Π»ΡΡ ΠΎΡΠ΅Π½ΠΊΠΈ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌΠ° 5-HTTLPR Π³Π΅Π½Π° SLC6A4. Π ΠΎΡΠ½ΠΎΠ²Π½ΠΎΠΉ Π³ΡΡΠΏΠΏΠ΅ ΡΠ°ΠΊΠΆΠ΅ ΠΎΠΏΡΠ΅Π΄Π΅Π»ΡΠ»ΠΈ ΡΡΠΎΠ²Π΅Π½Ρ ΡΠΎΠ΄Π΅ΡΠΆΠ°Π½ΠΈΡ ΡΠ΅ΡΠΎΡΠΎΠ½ΠΈΠ½Π° Π² ΠΊΡΠΎΠ²ΠΈ, ΠΏΡΠΎΠ²ΠΎΠ΄ΠΈΠ»ΠΈ ΠΏΡΠΈΡ
ΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΡΠ΅ΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ Ρ ΠΎΡΠ΅Π½ΠΊΠΎΠΉ ΡΠ΅Π°ΠΊΡΠΈΠ²Π½ΠΎΠΉ ΠΈ Π»ΠΈΡΠ½ΠΎΡΡΠ½ΠΎΠΉ ΡΡΠ΅Π²ΠΎΠΆΠ½ΠΎΡΡΠΈ Ρ ΠΈΡΠΏΠΎΠ»ΡΠ·ΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΠΎΠΏΡΠΎΡΠ½ΠΈΠΊΠ° Π‘ΠΏΠΈΠ»Π±Π΅ΡΠ³Π΅ΡΠ° β Π₯Π°Π½ΠΈΠ½Π°, ΠΎΡΠ΅Π½ΠΈΠ²Π°Π»ΠΈ ΠΊΠ°ΡΠ΅ΡΡΠ²ΠΎ ΠΆΠΈΠ·Π½ΠΈ Ρ ΠΏΠΎΠΌΠΎΡΡΡ ΠΎΠΏΡΠΎΡΠ½ΠΈΠΊΠΎΠ² SF-36 ΠΈ GSRS, Π²ΡΡΠ°ΠΆΠ΅Π½Π½ΠΎΡΡΡ Π°ΡΡΠ΅Π½ΠΈΠΈ Ρ ΠΏΠΎΠΌΠΎΡΡΡ ΡΠΊΠ°Π»Ρ Π°ΡΡΠ΅Π½ΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠΎΡΡΠΎΡΠ½ΠΈΡ, ΠΈΠ½ΡΠ΅Π½ΡΠΈΠ²Π½ΠΎΡΡΡ Π±ΠΎΠ»ΠΈ ΠΏΠΎ Π²ΠΈΠ·ΡΠ°Π»ΡΠ½ΠΎΠΉ Π°Π½Π°Π»ΠΎΠ³ΠΎΠ²ΠΎΠΉ ΡΠΊΠ°Π»Π΅.Π Π΅Π·ΡΠ»ΡΡΠ°ΡΡ. Π£ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π‘Π Π-Π ΡΠ°ΡΡΠΎΡΠ° Π½ΠΎΡΠΈΡΠ΅Π»ΡΡΡΠ²Π° ΠΌΡΡΠ°Π½ΡΠ½ΠΎΠ³ΠΎ Π°Π»Π»Π΅Π»Ρ S ΡΠΎΡΡΠ°Π²ΠΈΠ»Π° 77,8% (35 ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² ΠΈΠ· 45), ΡΡΠΎ ΠΎΠΊΠ°Π·Π°Π»ΠΎΡΡ ΡΡΠ°ΡΠΈΡΡΠΈΡΠ΅ΡΠΊΠΈ Π·Π½Π°ΡΠΈΠΌΠΎ Π²ΡΡΠ΅, ΡΠ΅ΠΌ Π² Π³ΡΡΠΏΠΏΠ΅ Π‘Π Π-Π (Ρ = 0,002) ΠΈ Π² ΠΊΠΎΠ½ΡΡΠΎΠ»ΡΠ½ΠΎΠΉ Π³ΡΡΠΏΠΏΠ΅ (Ρ = 0,005). ΠΠ΅ΠΆΠ΄Ρ Π³ΡΡΠΏΠΏΠΎΠΉ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π‘Π Π-Π ΠΈ ΠΊΠΎΠ½ΡΡΠΎΠ»Π΅ΠΌ Π½Π΅ ΠΏΠΎΠ»ΡΡΠ΅Π½ΠΎ ΡΡΠ°ΡΠΈΡΡΠΈΡΠ΅ΡΠΊΠΈ Π·Π½Π°ΡΠΈΠΌΡΡ
ΡΠ°Π·Π»ΠΈΡΠΈΠΉ (Ρ = 0,54) Π² ΡΠ°ΡΡΠΎΡΠ΅ ΠΎΠ±Π½Π°ΡΡΠΆΠ΅Π½ΠΈΡ Π³ΠΎΠΌΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΠΎΠ³ΠΎ Π³Π΅Π½ΠΎΡΠΈΠΏΠ° ΠΏΠΎ Π½ΠΎΡΠΌΠ°Π»ΡΠ½ΠΎΠΌΡ Π°Π»Π»Π΅Π»Ρ (LL) ΠΈ Π³Π΅ΡΠ΅ΡΠΎΠΈ Π³ΠΎΠΌΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΠΎΠ³ΠΎ Π³Π΅Π½ΠΎΡΠΈΠΏΠ° Ρ ΠΌΡΡΠ°Π½ΡΠ½ΡΠΌ Π°Π»Π»Π΅Π»Π΅ΠΌ (SL ΠΈ SS). Π Π³ΡΡΠΏΠΏΠ΅ Π‘Π Π-Π Π²ΡΡΠ²Π»Π΅Π½ΠΎ Π³Π΅Π½Π΄Π΅ΡΠ½ΠΎΠ΅ ΡΠ°Π·Π»ΠΈΡΠΈΠ΅: Π³ΠΎΠΌΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΡΠΉ Π³Π΅Π½ΠΎΡΠΈΠΏ ΠΏΠΎ ΠΌΡΡΠ°Π½ΡΠ½ΠΎΠΌΡ Π°Π»Π»Π΅Π»Ρ (SS) 5-HTTLPR ΡΡΠ°ΡΠΈΡΡΠΈΡΠ΅ΡΠΊΠΈ Π·Π½Π°ΡΠΈΠΌΠΎ ΡΠ°ΡΠ΅ ΠΎΠΏΡΠ΅Π΄Π΅Π»ΡΠ»ΡΡ Ρ ΠΆΠ΅Π½ΡΠΈΠ½ (p = 0,0147); Ρ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² c Π‘Π Π-Π ΠΈ ΠΊΠΎΠ½ΡΡΠΎΠ»ΡΠ½ΠΎΠΉ Π³ΡΡΠΏΠΏΡ ΡΡΠ°ΡΠΈΡΡΠΈΡΠ΅ΡΠΊΠΈ Π·Π½Π°ΡΠΈΠΌΡΡ
Π³Π΅Π½Π΄Π΅ΡΠ½ΡΡ
ΡΠ°Π·Π»ΠΈΡΠΈΠΉ Π² ΡΠ°ΡΠΏΡΠ΅Π΄Π΅Π»Π΅Π½ΠΈΠΈ Π³Π΅Π½ΠΎΡΠΈΠΏΠ° Π½Π΅ Π±ΡΠ»ΠΎ. Π£ΡΠΎΠ²Π΅Π½Ρ ΡΠ΅ΡΠΎΡΠΎΠ½ΠΈΠ½Π° Π² ΠΊΡΠΎΠ²ΠΈ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π‘Π Π Π² Π·Π°Π²ΠΈΡΠΈΠΌΠΎΡΡΠΈ ΠΎΡ Π³Π΅Π½ΠΎΡΠΈΠΏΠ° 5-HTTLPR Π½Π΅ ΡΠ°Π·Π»ΠΈΡΠ°Π»ΡΡ (p = 0,086) ΠΈ Π±ΡΠ» Π² ΠΏΡΠ΅Π΄Π΅Π»Π°Ρ
ΡΠ΅ΡΠ΅ΡΠ΅Π½ΡΠ½ΡΡ
Π·Π½Π°ΡΠ΅Π½ΠΈΠΉ, ΠΎΠ΄Π½Π°ΠΊΠΎ ΡΠ»Π΅Π΄ΡΠ΅Ρ ΠΎΡΠΌΠ΅ΡΠΈΡΡ ΡΠ΅Π½Π΄Π΅Π½ΡΠΈΡ ΠΊ ΡΠ½ΠΈΠΆΠ΅Π½ΠΈΡ ΡΡΠΎΠ²Π½Ρ ΡΠ΅ΡΠΎΡΠΎΠ½ΠΈΠ½Π° Ρ Π½ΠΎΡΠΈΡΠ΅Π»Π΅ΠΉ LL ΠΏΠΎ ΡΡΠ°Π²Π½Π΅Π½ΠΈΡ Ρ Π½ΠΎΡΠΈΡΠ΅Π»ΡΠΌΠΈ ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌΠΎΠ² SS/SL. ΠΠ½Π°Π»ΠΈΠ· Π³Π°ΡΡΡΠΎΡΠ½ΡΠ΅ΡΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΎΠΏΡΠΎΡΠ½ΠΈΠΊΠ° GSRS ΠΏΠΎΠΊΠ°Π·Π°Π» ΡΡΠ°ΡΠΈΡΡΠΈΡΠ΅ΡΠΊΠΈ Π·Π½Π°ΡΠΈΠΌΠΎΠ΅ (p = 0,013) ΠΏΠΎΠ²ΡΡΠ΅Π½ΠΈΠ΅ ΡΡΠΌΠΌΠ°ΡΠ½ΠΎΠ³ΠΎ Π±Π°Π»Π»Π° ΠΊΠΎΠ½ΡΡΠΈΠΏΠ°ΡΠΈΠΎΠ½Π½ΠΎΠ³ΠΎ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° Ρ ΠΏΠ°ΡΠΈΠ΅Π½ΡΠΎΠ² Ρ Π³ΠΎΠΌΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΡΠΌ LL ΠΏΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌΠΎΠΌ 5-HTTLPR ΠΏΠΎ ΡΡΠ°Π²Π½Π΅Π½ΠΈΡ Ρ Π³Π΅Π½ΠΎΡΠΈΠΏΠΎΠΌ SS/SL.ΠΠ°ΠΊΠ»ΡΡΠ΅Π½ΠΈΠ΅. ΠΡΡΠ²Π»Π΅Π½Π½ΡΠ΅ ΠΎΡΠΎΠ±Π΅Π½Π½ΠΎΡΡΠΈ ΠΌΠΎΠ³ΡΡ Π±ΡΡΡ ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»Π΅Π½Ρ ΡΠ½ΠΈΠΆΠ΅Π½Π½ΠΎΠΉ ΡΠΊΡΠΏΡΠ΅ΡΡΠΈΠ΅ΠΉ Π³Π΅Π½Π° SLC6A4 Ρ Π½ΠΎΡΠΈΡΠ΅Π»Π΅ΠΉ ΠΌΡΡΠ°Π½ΡΠ½ΠΎΠ³ΠΎ Π°Π»Π»Π΅Π»Ρ Π² ΠΏΡΠΎΠΌΠΎΡΠΎΡΠ΅ 5-HTTLPR ΠΈ ΠΊΠ°ΠΊ ΡΠ΅Π·ΡΠ»ΡΡΠ°Ρ β Π·Π°ΠΌΠ΅Π΄Π»Π΅Π½Π½ΠΎΠΉ ΡΠΊΠΎΡΠΎΡΡΡΡ ΠΏΠΎΠ³Π»ΠΎΡΠ΅Π½ΠΈΡ ΡΠ΅ΡΠΎΡΠΎΠ½ΠΈΠ½Π°, ΠΊΠΎΡΠΎΡΡΠΉ ΠΎΠΊΠ°Π·ΡΠ²Π°Π΅Ρ ΡΡΠΈΠΌΡΠ»ΠΈΡΡΡΡΠ΅Π΅ Π²Π»ΠΈΡΠ½ΠΈΠ΅ Π½Π° ΠΆΠ΅Π»ΡΠ΄ΠΎΡΠ½ΠΎ-ΠΊΠΈΡΠ΅ΡΠ½ΡΠΉ ΡΡΠ°ΠΊΡ. ΠΠΎΠ»ΠΈΠΌΠΎΡΡΠΈΠ·ΠΌ ΡΡΠ°Π½ΡΠΏΠΎΡΡΠ΅ΡΠ° ΠΎΠ±ΡΠ°ΡΠ½ΠΎΠ³ΠΎ Π·Π°Ρ
Π²Π°ΡΠ° ΡΠ΅ΡΠΎΡΠΎΠ½ΠΈΠ½Π° Π³Π΅Π½Π° SLC6A4 Π·Π°ΡΠ»ΡΠΆΠΈΠ²Π°Π΅Ρ Π΄Π°Π»ΡΠ½Π΅ΠΉΡΠ΅Π³ΠΎ ΠΈΠ·ΡΡΠ΅Π½ΠΈΡ ΠΊΠ°ΠΊ ΠΏΠΎΡΠ΅Π½ΡΠΈΠ°Π»ΡΠ½ΡΠΉ Π³Π΅Π½-ΠΊΠ°Π½Π΄ΠΈΠ΄Π°Ρ Π² ΠΏΠ°ΡΠΎΡΠΈΠ·ΠΈΠΎΠ»ΠΎΠ³ΠΈΠΈ Π‘Π Π