서울대학교 생물정보학 협동과정 주최로 세미나를 아래와 같이 열고자 하오니, 많은 참여 바랍니다.

일시: 2017년 11월 30일 목요일 오전 11시

연사: 오범석 (경희대학교 의과대학)

장소: 서울대학교 25동 411호

Title : Bioinformatic Analysis in Genetic Epidemiology

Abstract : Classic epidemiology has mainly focused on the determination of environmental risk factors. However, the human genome project made a turning point it to examine genetic risk factors governing diseases. Many classic epidemiology cohorts therefore have been transformed into the genetic epidemiology cohorts that aim to determine both the environmental and genetic factors as well as the interaction of both factors. The transition makes it better to understand the architecture of complex diseases and provide the strategies of disease prevention and treatment.

During the last decade we could identify many genetic factors affecting complex diseases by genome-wide association study (GWAS) using the genetic epidemiology cohorts including nation-wide biobanks. So far close to 10 thousand genetic variants have been reported to influence the human phenotypes and several databases such as dbGAP and GWAS Catalog have been constructed to archive the results. However, the outcome falls short of our expectation for disease prediction as well as diagnosis and prevention. The explanation for the disease development, based on the genetic factors identified by the GWAS, was not sufficient, lower than 20% in most complex diseases, which is called ‘missing heritability’. There are several arguments explaining the ‘missing heritability’, including the role of rare allele, gene-environment interaction and epigenetic modification.

The gene-environment interaction is a tempting possibility to explain the missing heritability since some genetic factors could interact with environment factors to affect diseases. The genetic factors would not be identified by GWAS if the gene-environment interaction was not considered for the analysis. Traditionally the gene-environment interaction has been analyzed by the Cox proportionally hazard model using the follow-up cohort study. When we compared the results between the follow-up and cross-sectional investigations, the cross-sectional study showed the better results in the KoGES cohort study of Korea National Institute of Health (KNIH). Therefore, we concentrated the environmental interaction on the baseline data of KoGES for the type 2 diabetes, hypertension and obesity.

In this talk, I would like to introduce the general features of genetic epidemiology and explain the analysis procedure of GWAS and gene-environment interaction. Additionally the results of both studies will be presented and discussed.

학 력

1978. 03. 01 - 1982. 02. 26 서울대학교 사범대학 생물과 (이학사)

1982. 03. 01 - 1984. 02. 25 서울대학교 과학교육과 생물전공 (교육학석사)

1986. 09. 01 - 1992. 05. 21 미국 Rutgers University; The State University of New Jersey (이학박사)

경 력

1992. 02 - 1993. 05 미국 The Wistar Institute 박사후연구원(Postdoctoral Fellow)

1993. 05 - 1993. 10 독일 Max-Planck Institute in Freiburg 박사후연구원 (Postdoctoral Fellow)

1993. 10 - 1997. 06 미국 The Jackson Laboratory 박사후연구원 (Postdoctoral Associate)

1997. 06 - 1998. 10 미국 The Jackson Laboratory 선임연구원 (Research Associate)

1998. 10 - 1999. 12 국립보건원, 특수질환부, 유전질환과 Brain Pool

1999. 12 - 2002. 03 국립보건원, 특수질환부, 유전질환과 보건연구관

2001. 03 - 2008. 02 고려대 객원교수

2002. 03 - 2003. 10 국립보건원, 유전체연구소, 유전체역학정보실장

2003. 10 - 2005. 10 질병관리본부, 국립보건연구원, 유전체연구부, 유전체형질연구실장

2005. 10 - 2008. 02 질병관리본부, 국립보건연구원, 유전체센터, 형질연구팀장

2008. 03 – 2013. 02 경희대, 의과대학, 의공학교실, 부교수

2013. 03 – 현재 경희대, 의과대학, 생화학분자생물학교실, 기초의과학과 학과장

Selected Publications

Hong, K-W., Shin, Y-B., Kim, K., Oh, B. 2011 Differentially expressed genes by inhibition of C-terminal src kinase by siRNA in human vascular smooth muscle cells and their association with blood pressure. Genomics & Informatics 9: 102-113.

Hong, K-W., Shin, D-J., Lee, S-H., Son, N-H., Go, M-J., Lim, J-E., Shin, C., Jang, Y., Oh, B. 2012 Common variants in RYR1 are associated with left ventricular hypertrophy assessed by ECG. European Heart J 33: 1250-1256.

Hong, K-W., Oh, B. 2012 Recapitulation of genome-wide association studies on body mass index in the Korean population. Int J Obesity 36: 1127-1130.

Hong, K-W., Lim, J-E., Go, M.J., Cho, Y.S., Ahn, Y., Han, B-G. and Oh, B. 2012 Recapitulation of the Association of the Val66Met Polymorphism of BDNF Gene With BMI in Koreans. Obesity 20: 1871-1875.

Kim, J.W., Hong, K-W., Go, M.J., Kim, S.S., Tabara, Y., Kita, Y., Tanigawa, T., Cho, Y.S., Han, B-G. and Oh, B. 2012 A Common Variant in SLC8A1 Is Associated with the Duration of the Electrocardiographic QT Interval. 2012 Am. J. Hum. Genet. 91: 180-184

Ji, S-M., Shin, Y-B., Park, S-Y., Lee, H-J. and Oh, B. 2012 Decreases in Casz1 mRNA by an siRNA complex do not alter blood pressure in mice. Genomics & Informatics 10: 40-43.

Lim, J-E., Hong, K-W., Jin, H-S., and Oh, B. 2012 Association analysis of reactive oxygen species-hypertension genes discovered by literature mining. Genomics & Informatics 10: 244-248.

Lim, J-E., Shin, Y-A., Hong, K-W., Jin, H-S., Koh, I.S., and Oh, B. 2013 Characterization of functional variants in 33 blood pressure loci using 1000 genomes project data. Genes & Genomics Epub ahead of print DOI 10.1007

Jin, H-S., Kim, B-Y., Kim, J., Hong, K-W., Jung, S-Y., Lee, Y-S., Huh, D., Oh, B., Chung, Y-S., and Jeong, S-Y. 2013 Association between the SPRY1 gene polymorphism and obesity-related traits and osteoporosis in Korean women. Molecular Genetics and Metabolism 108: 95–101.

Shin, Y-B., Lim, J-E., Ji, S-M., Lee, H-J., Park, S-Y., Hong, K-W., Lim, M. L., McCarthy, M.I., Lee, Y-H., Oh, B. 2013 Silencing of Atp2b1 increases blood pressure through vasoconstriction. J Hypertension 31: 1575-1583.

Park, S-Y., Lee, H-J., Ji, S-M., Kim, M-E., Jigden, B, Lim, J-E., Oh, B. 2014 ANTXR2 is a potential causative gene in the genome-wide association study of the blood pressure locus 4q21.Hypertens Res. 37:811-7.

Hong, K-W., Lim, J-E., Kim, J.W., Tabara, Y., Ueshima, H., Miki, T., Matsuda, F., Cho, Y.S., Kim, Y., Oh, B. 2014 Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. Human Molecular Genetics 23:6659-67.

서울대학교 생물정보학 협동과정 주최