The Korean Journal of Gastroenterology (대한소화기학회지)

The Korean Society of Gastroenterology (대한소화기학회)
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Serotonin Transporter Gene Polymorphism in Healthy Adults and Patients with Irritable Bowel Syndrome

건강한성인 및 과민성 장 증후군 환자에서 세로토닌 수송 단백질 유전자의 다형성

Lee, Dok-Yong;Park, Hyo-Jin;Kim, Won-Ho;Lee, Sang-In;Seo, Youn-Ju;Choi, Young-Chul
이덕용;박효진;김원호;이상인;서윤주;최영철

  • Published : 20040100
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Abstract

Background/Aims: Serotonin is thought to be an important neurotransmitter in the pathogenesis of irritable bowel syndrome (IBS). It is reported that functional polymorphism in the promotor region of the serotonin transporter gene is related with the subtypes of IBS and shows racial difference. However, a functional relation between polymorphism and IBS is not clear. The aim of this study was to investigate 5-hydroxytryptamine transporter (5-HTT) gene polymorphism in patients with IBS. Methods: For fifty-six healthy controls and 33 patients with IBS fulfilling Rome II criteria, 5`-flank promotor region of 5-HTT gene was analyzed by polymerase chain reaction. Results: The genotypes of healthy controls were S/S (57.1%), S/L (37.5%), and L/L (5.4%). Those of IBS patients were S/S (54.5%), S/L (36.4%), and L/L (9.1%). IBS patients were divided into three groups: diarrhea predominant (n=15; S/S, 40%; S/L, 53.3%; L/L, 6.7%), constipation predominant (n=12; S/S, 75.0%; S/L, 8.3%; L/L, 16.7%), diarrhea-constipation alternating type (n=6; S/S, 50%; S/L, 50%). There was no statistical difference in the 5-HTT gene polymorphism between patients and controls, and according to the subtypes of IBS patients (p=0.135). Conclusions: There was no relationship between serotonin transporter gene polymorphism and IBS. However, allele S/S genotype was most prominent genotype in both controls and patients.

건강한 성인 및 과민성 장 증후군 환자에서 세로토닌 수송 단백질 유전자의 다형성 Serotonin Transporter Gene Polymorphism in Healthy Adults and Patients with Irritable Bowel Syndrome 이덕용 ( Lee Deog-Yong ) , 박효진 ( Park Hyo-Jin ) , 김원호 ( Kim Won-Ho ) , 이상인 ( Lee Sang-In ) , 서윤주 ( Seo Yun-Ju ) , 최영철 ( Choe Yeong-Cheol ) 목적: 과민성 장 증후군의 발병 원인으로 최근에는 신경전달물질 중 세로토닌이 중요한 역할을 하는 것으로 생각되고 있다. 세로토닌이 과민성 장 증후군의 병태생리에 관여하며 세로토닌 수송 단백질 유전자형이 과민성 장 증후군의 아형과 관련이 있고 인종에 따른 차이가 보고되고 있으나 아직 명확하게 밝혀져 있지 않다. 본 연구에서는 한국인에서 세로토닌 수송 단백질의 유전자형과 과민성 장 증후군과의 연관 관계를 규명하고자 하였다. 대상 및 방법: 건강한 성인 56명과 외래에 내원한 로마기준 II에 합당한 과민성 장 증후군 환자 33명을 대상으로 세로토닌 수송 단백질 유전자의 다형성을 중합효소연쇄반응을 이용하여 측정하였다. 결과: 건강한 성인에서의 S/S, S/L, L/L 유전자형은 각각 32명(57.1%), 21명(37.5%), 3명(5.4%)이었으며, 과민성 장 증후군 환자에서는 각각 18명(54.5%), 12명(36.4%), 3명(9.1%)이었다. 과민성 장 증후군 환자에서 설사 우세형, 변비 우세형, 그리고 설사와 변비의 교대형은 각각 15명, 12명, 6명이었으며, 아형에 따른 유전자형은 설사 우세형의 경우 S/S, S/L, L/L 유전자형은 각각 6명(40%), 8명(53.3%), 1명(6.7%)이었고, 변비 우세형의 경우 S/S, S/L, L/L 유전자형은 각각 9명(75.0%), 1명(8.3%), 2명(16.7%)이었으며, 설사와 변비의 교대형의 경우 S/S, S/L 유전자형은 각각 3명(50%), 3명(50%)이었다. 건강한 성인과 과민성 장 증후군 환자에 있어서 세로토닌 수송 단백질의 유전자형의 차이는 없었으며(p= 0.794) 과민성 장 증후군의 아형에 따른 세로토닌 수송 단백질의 유전자형의 차이도 없었다(p=0.135). 결론: 세로토닌 수송 단백질 유전자의 다형성과 과민성 장 증후군과의 연관성은 없었다. 그러나, 건강한 성인 및 과민성 장 증후군 환자에서 세로토닌 수송 단백질 유전자 조절 부위의 유전자형 분포는 S/S 유전자형이 다른 아형보다 많았다.

Keywords

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