한국인 정신분열병 환자의 안구추적운동 이상과 Dystrobrevin Binding Protein 1(DTNBP1) 유전자의 P1635와 P1655 단염기 다형성의 연합에 대한 연구 = Association Analysis between P1635 and P1655 Polymorphisms on Dystrobrevin Binding Protein 1(DTNBP1) Gene and Smooth Pursuit Eye Movement(SPEM) Abnormality in Korean Schizophrenia Patients

다국어 초록 (Multilingual Abstract)

Objective : We investigated the association of P1635 and P1655 polymorphisms on dystrobrevin binding protein 1(DTNBP1) gene with smooth pursuit eye movement(SPEM) abnormality in Korean schizophrenia　patients. Methods : We measured SPEM function in 216 Korean schizophrenia patients(male 116, female 100) and divided them into two groups, one is a good SPEM function group and the other is a poor SPEM function group. We then analyzed P1635 polymorphism and P1655 polymorphism on DTNBP1 gene from their DNAs extracted from their blood. We compared the differences of genotype and allele distributions of the two polymorphisms on DTNBP1 gene between the two groups. Results : The Ln S/N ratio(mean ± sd) of the good SPEM function group was 4.39 ± 0.33 and the ratio of poor SPEM function group was 3.18 ± 0.71. There were no statistically significant differences of age and male/female ratio between the two groups. There were no significant differences of genotype or allele distributions of the P1635 polymorphism and P1655 polymorphism on DTNBP1 gene between the two schizophrenia groups divided by SPEM function. Conclusion : The results suggest that P1635 polymorphism and P1655 polymorphism on DTNBP1 gene might not be related to SPEM function abnormality in schizophrenia.

국문 초록 (Abstract)

연구목적：정신분열병 환자의 안구추적운동 이상은 유력한 생물학적인 지표이나 유전자적 원인에 대한 연구가 활발히 진행되지 못하였다. 최근 여러 연구들에서 dystrobrevin binding protein 1(DTNBP1, dysbin-din)이 정신분열병의 원인 유전자의 후보로서 시사되었고, 그 유전자에서 번역된 dysbindin의 발현의 저하가 정신분열병 환자의 해마 및 CA2, CA3 부위 조직에서 나타난다는 보고가 있었다. 그러나 DTNBP1 유전자가 정신분열병 환자의 안구운동 이상의 원인 유전자로 작용할 것인지에 대한 연구는 거의 없었다. 본 연구의 목적은 DTNBP1 유전자상에 존재한 비교적 인접한 두개의 단 염기 다형성들인 P1 635와 P165가 정신분열병 환자의 안구추적운동 이상의 유전자적인 원인으로 작용할 것인지를 알아보고자 시행되었다. 방 법 ：대상군은 216명의 입원한 만성 정신분열병 환자들이며 안구운동(SPEM)을 측정하였고, 신호/잡음의 자연 대수 값(Ln S/N ratio)을 구하여 안구운동이 우수한 군과 열등한 군으로 구분하였다. 이후 대상군의 혈액에서 추출한 DNA로부터 DTNBP1 유전자상의 단 염기 다형성들인 P1 635와 P1655를 분석하여 유전자형과 대립인자형을 알아낸 후, 안구운동 이상 유무에 따른 두 군사이의 분포의 차이를 조사하였다. 결 과 ：정신분열병 환자들 중 안구운동이 우수한 군의 신호/잡음의 자연대수 값(Ln S/N ratio)의 평균과 표준편차는 4.39 ± 0.3이었고, 안구운동이 열등한 군의 신호/잡음의 자연 대수 값(Ln S/N ratio)의 평균과 표준편차는 3.18 ± 0.71이었다. 두 군 사이에 나이나 성별비율의 차이는 통계적으로 의미가 없었다. P1 635와 P 1655의 유전자형과 대립인자형의 분포의 차이는 안구운동 이상 유무에 따라 구분한 두 군 사이에 나타나지 않았다.

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