정신분열병에서 연성 신경학적 징후의 가족내 전달에 관한 연구
The study about Intra-familial Transmission of the Neurological Soft Signs in Schizophrenia
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목 적 : 연성 신경학적 징후는 정신분열병의 유전과 관계되는 생물학적 표현형으로 여겨져 왔다. 본 연구에서는 연성 신경학적 징후가 유전적 하중과 관련해서 가족 내에서 연관성을 보이는지를 알아보고자 하였다. 대상 및 방법 : 정신분열병 환자로서 부모 중 한 명은 정신분열병의 가족력이 있고 나머지 한 명은 가족력이 없는 환자가(N=14) 모집되었다. 이들의 부모가 가진 가족력에 따라 유전적 하중을 정하였고 이를 위해 Family Interview for Genetic Studies (FIGS)로 직접 면담을 시행하였다. 환자의 부모에서 환자를 제외한 1차 혹은 2차 친척에서 정신분열병 환자가 있는 부모를 유전적 하중이 있는 ‘추정 보유자’(presumed carrier)(N=9)로, 그렇지 않은 부모를 ‘추정 비보유자’(presumed noncarrier)(N=11)로 구분하였다. 또한 정상 대조군은 1차 혹은 2차 친척에서 정신분열병의 가족력이 없는 일반인(N=12)이었다. 이들의 연성 신경학적 징후를 한국어판 신경학적 평가 척도(Neurological Evaluation Scale-Korean version)를 사용하여 평가하였으며 가족내 연관성에 대한 분석 방법으로 급내 상관계수법(Intra-class coefficients[ICC]) method)을 이용하였다. 결 과 : 연성 신경학적 징후의 하위 영역 중 운동 조정 영역에서 환자와 추정 보유자 간에 유의한 연관성이 존재하였고(ICC=.804, p=.016) 환자와 추정 비보유자와는 연관성이 존재하지 않았다. 운동 조정 영역 이외의 다른 하위 영역에서는 유전적 하중과 상관없이 가족내 연관성이 존재하지 않았다. 그러나, 환자군과 정상 대조군의 운동 조정 영역의 점수 간에는 통계적으로 유의한 차이가 존재하지 않았다. 결 론 : 이번 연구에서는 연성 신경학적 징후들이 정신분열병의 유전적 하중과 같이 유전되는 생물학적 표현형일 가능성이 입증되지 못하였다. 향후 보다 많은 수를 대상으로 한 추시 연구가 필요하다.
Abstract
Purpose: Neurological soft signs have been regarded as endophenotypes associated with the genetic basis of schizophrenia. This study was to investigate the intra-familial correlations of the neurological soft signs according to their genetic loading. Subjects and Methods: The schizophrenic patients (N=14) were included, who had one parent with a family history of schizophrenia and the other without it. Genetic loading was determined according to parent's family history of schizophrenia by interviewing subjects using the Family Interview for Genetic Studies (FIGS). These parents were subdivided into two groups. The first group was designated as ‘presumed carriers’ (N=9) of genetic loading, who had one more schizophreic first- or second-degree relatives. The second group was designated as ‘presumed non-carriers’ (N=11) of genetic loading, who had no schizophrenic first- or second-degree relatives. Normal controls (N=12) consisted of people without schizophrenic relatives. NSS were evaluated using the Neurological Evaluation Scale-Korean Version (NES-K), and the intra-familial correlations of NSS were tested using the Intra-class coefficients (ICC) method. Results: The scores of Motor Coordination subdimension of NES-K were significantly correlated between the patients and their presumed carriers (ICC=.804, p=.016), but not significantly correlated between the patients and their presumed noncarriers. In other subdimensions of NES-K, no significant correlation were found between the patients and their parents regardless of the genetic loading. But, there were no statistically significant difference in the scores of Motor Coordination subdimension of NES-K between the patients and controls. Conclusion: This study did not prove the neurological soft signs might be an endophenotype of schizophrenia that cosegregate with the genetic loading. The future study using more subjects than this would be needed.
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