Genomics and Nursing Practice

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1 약물유전체학 Pharmacogenomics Kangwon National Univ School of Medicine Hee Jae Lee PhD

3 A : 안녕? 어떻게지내? B : 응, 난요즘혈압이조절이안돼. A : 그래? 난네가고혈압인줄몰랐다. 괜찮니? B : 그리오래되지않았어. 한반개월정도. 우리아버지가혈압이높으셨거든. 형이랑누나들도혈압이높은것같아. A : 나도고혈압때문에병원에다녀. Thiazide 먹어봤니? 내의사는그약을처방해주더라고. 난그것먹고좋아졌어. 가끔은머리가아프지만말이야. B : 이상하네. 실은나도그약먹고있거든. 하지만나한테안듣는것같은데. A : 내쌍둥이동생도처음에는효과가없었다고하더라고. 그런데, 짠음식피하고, 식이요법을한결과혈압이떨어졌다고하던데너도음식조절좀해보지. B : 너도알다시피내가좀신겁게먹고, 야채도많이먹잖니. 게다가몸생각해서운동도열심히한다고. 근데왜나는이약이안듣지?

4 증상, 진단 : 고혈압요인 처방 유전고염분식사운동부족 항고혈압약물 : 이뇨제 (thiazide) 식이요법운동

약물종류 약물반응이없는군 SSRI ( 항우울제 ) 10-25 % ACE inhibitor ( 항고혈압제 ) 10-30% Beta blocker ( 심혈관질환치료제 )

5 약물종류 약물반응이없는군 SSRI ( 항우울제 ) % ACE inhibitor ( 항고혈압제 ) 10-30% Beta blocker ( 심혈관질환치료제 ) 15-25% TCA ( 항우울제 ) 20-50% HMGCoA reductase inhibitors ( 고지혈증치료제 ) 30-70% Beta-2 agonist ( 천식치료제 ) 40-70%

6 약효과가있는거야없는거야? Department of Pharmacology Kangwon National University

7 생물학적정보의종류 DNA* RNA* Polypeptide* Protein structure Protein function Protein interaction pathways Cellular dynamics Tissue interactions Organism (phenotype) Population dynamics *almost complete knowledge

Francis Crick Central Dogma DNA DNA RNA Protein Replication

8 Gene and Genome ( 유전자와유전체 ) Gene - DNA (1953 yr) Adenine, Guanine, Cytosine, Thymine An antiparallel double helix James Watson & Francis Crick Central Dogma DNA DNA RNA Protein Replication Transcription Translation Department of Pharmacology Kangwon National University

9 Gene and Genome - Information When, Where, How much, What kind of Department of Pharmacology Kangwon National University

10 Gene and Genome Chromosome ( 염색체 ) - 46 Chromosome (23 pairs) - about 28,000~35,000 genes Human Genome Project - Sequence 3.1 billion of genetic code - Began in Draft in Finished in 2003

11 Gene and Genome Department of Pharmacology Kangwon National University

12 Many genomes are now sequenced!!! E. coli 4,200 genes sequenced in 1997 mouse ~22,500 genes sequenced in 2005 chimpanzee S. cerevisiae 5,800 genes sequenced in 1997 ~22,500 genes sequenced in 2005 human D. melanogaster 14,000 genes sequenced in 2000 ~22,500 genes sequenced in 2003

13 Human differences and mutations Polymorphism ( 다형성 ) 집단에서유의적인빈도로둘또는그이상의변이들이존재 alleles ( 대립형질 ), phenotypes, sequence variants, chromosomal structure variants 집단에서빈도가 1% 이상 Department of Pharmacology Kangwon National University

14 Human differences and mutations Human genetic markers - Blood group ( ) : ~20 (No. of loci) - Electrophoretic mobility variants of serum protein ( ) : ~30 - HLA tissue types (1970- ) : 1 (haplotype) - DNA RFLPs (1975- ) : > DNA VNTRs (minisatellites) (1985- ) : > DNA VNTRs (microsatellites) (1989- ) : > DNA SNPs (1989- ) : > 10 6 Department of Pharmacology Kangwon National University

15 단일염기다형성 (Single nucleotide polymorphism; SNP) DNA 단일염기 (A,T,C,or G) 변이 Alter regulation of gene expression, mrna processing (splicing, half-life, etc), and protein and enzyme activities.

16 약물반응과유전학 ( 약물유전학 ) Pharmacogenetics ( 약물유전학 ) 약물반응에대한개인적차이에대하여유전적수준에서연구하는학문

17 Pharmacogenomics( 약물유전체학 ) 약물에대한개개인의인체의반응을유전체수준에서연구하는학문 proteomics, bioinformatics,microarray 포함 맞춤의약품개발에활용 개인맞춤약물요법

18 약동학 약물의흡수, 분포, 대사, 배설

19 약력학 작용부위 ( 수용체 ) 에서의약물작용

20 약력학 Normal Mutation

21 Evans and McLeod NEJM 348 (6): 538

22 약물표적물질의유전자다형성 Evans and McLeod NEJM 348 (6): 538

23 인종적차이에따른대사효소의활성도 Caucasians Africa Americans Asians NAT2, slow acetylator 40-70% 50-60% 10-15% CYP2D6/null (PM) 6-10% 5% 1% CYP2C19/null (PM) 2% 4%, 18% 12-23% CYP2C9/het/low (PM) 14-37% 0-8% 0-1% beta-2 adrenergic receptor (codon 16) 37% 49% 59& PM : poor metabolizer From Bertilsson (1995); Evans et al., (2001); Mancinelli (2000); Meyer (2000); Wood (2001); Wilson et al., (2001)

24 Examples of dose adjustments based on PGDx.

26 In the Future.

27 Here is my sequence....

31 개인유전체분석서비스

32 In the future?

33 In the future?

34 In the future? GATACA?

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<4D F736F F F696E74202D20B1E8BCB120B1B3BCF6B4D420B0ADBFACC0DAB7E1> Outline 2012. 1. 30 CS4HS 생물정보학 생물정보학및암정보의학 맟춤의학과생물정보학 김선 서울대학교컴퓨터공학부생물정보연구소생물정보학협동과정 유전체학, 후생유전체학을이용한암연구와맟춤의학 1 2 Central Dogma in Biology PART1. 생물정보학 http://en.wikipedia.org/wiki/central_dogma_of_molecular_biology