조현병에 대한 유전학연구의 최신현황 (Recent Updates in Schizophrenia Genetics)

서지정보

· 발행기관 : 대한조현병학회
· 수록지 정보 : 대한조현병학회지 / 16권 / 1호 / 5 ~ 13페이지
· 저자명 : 정희정, 이병대, 박제민, 이영민, 문은수

초록

이러한 유전(gene), 환경(environment), 나이(age), 성(sex)이라는 변수인자(variable)가 어떻게 조현병을 포함한 다양한 정신의학적 표현형을 이룰것이냐 하는 문제는 결국에는 물리적 과학의 언어일수 있는 수학적 규명의 영역으로 갈수도 있을것이다. 이러한 방정식(equation)을 푸는 과정은 신의 영역에 도전하는 인간의 노력에 비유될수도 있을것이다.
그밖에도 에너지학-에너지 유전체학(Energyomics-energe-nomics), 미토콘드리아 연구의 전사적 접근(Translational Ap-proaches to Mitochondrial Research), 흔한 질환의 미토콘드리아적 원인(A mitochondrial etiology of common diseases), 면역유전학 및 정신내분비학(Immunogenetics : Psychoneu-roendocrinology), 진화유전학(Evolutionary Genetics), 통계유전학(Statistical Genetics), 생명통계학/생명정보학(Biosta-tistics/Bioinformatics), 약물유전체학(Pharmacogenomics), 유전자에 대한 소유권문제(Owning the Genome) 등의 많은 이슈들이 제기된다.
유전적 위험도에 대한 예측(Genetic risk prediction) 및 유전적 성과를 바탕으로 한 새로운 치료법의 개발(Development of novel therapeutics)은 개인형 맞춤 진단과 치료의 이른 전망(Prospects for personalized interventions and therapeu-tics)도 낳게한다.

영어초록

Schizophrenia is a devastating mental illness that can lead to deterioration in the social and occupational functioning of affected individuals with a major cost to society. A wide range of studies suggest a genetic component to the inheritance of schizophrenia. The molecular genetic studies on schizophrenia have been actively performed since late 1980s. In linkage studies, no loci were replicated across studies and there were no loci surpassing genome-wide significance. Candidate gene association studies showed generally inconsistent results and there were no enrichment of smaller P-values. In the GWAS era, the community has coalesced into large international consortia. The largest schizophrenia GWAS to date is 50,000 samples and efforts are ongoing to accumulate 50,000 cases and 50,000 controls as part of ‘PGC2’ collaboration. With the limitation of GWAS results, several alternatives are being explored. In genotyping, the concepts of allelic spectrum including from common polygenic to rare penetrant variation are emerging. Phenotypes include all phenomena beyond DNA. The developments in transcriptomic & proteomic approach and intensive research on endophenotype will bring crucial insights into the nature of schizophrenia in the future. But there still remains our task about research on many factors including environment that influence gene expression (epigenetics), age, and gender.

참고자료

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