Estonian Biobank and Human Genetic Variation - Ahhaa

tanktherapistΒιοτεχνολογία

23 Οκτ 2013 (πριν από 3 χρόνια και 7 μήνες)

103 εμφανίσεις

Tõnu Esko

Estonian Genome Center, University of Tartu

Department of Biotechnology, University of Tartu


GTTCCTAGAAAATGGAGCTGTCTTGGCATGTAGTCTTTATTGCCCTGCTAAGTTTTTCATGCTGGGGGTCAGACTGGGAGTCTGATAGAAATTTCATTTCCACCGCTGGTCCTCTAACCAAT
GACTTGCTGCACAACCTGAGTGGTCTCCTGGGAGACCAGAGTTCTAACTTTGTAGCAGGGGACAAAGACATGTATGTTTGTCACCAGCCACTGCCCACTTTCCTGCCAGAATACTTCAGCAG
TCTCCATGCCAGTCAGATCACCCATTATAAGGTATTTCTGTCATGGGCACAGCTCCTCCCAGCAGGAAGCACCCAGAATCCAGACGAGAAAACAGTGCAGTGCTACCGGCGACTCCTCAAG
GCCCTCAAGACTGCACGGCTTCAGCCCATGGTCATCCTGCACCACCAGACCCTCCCTGCCAGCACCCTCCGGAGAACCGAAGCCTTTGCTGACCTCTTCGCCGACTATGCCACATTCGCCTTC
CACTCCTTCGGGGACCTAGTTGGGATCTGGTTCACCTTCAGTGACTTGGAGGAAGTGATCAAGGAGCTTCCCCACCAGGAATCAAGAGCGTCACAACTCCAGACTCTCAGTGATGCCCACA
GAAAAGCCTATGAGATTTACCACGAAAGCTATGCTTTTCAGGGTGAGTACACATTGACCTGATGGTGACCCCTCGGCAACCTTCATCACACACCTTCCCCATCCTCCTTAGAGCAGATTCGA
CATTTCTCCCAACTCACCTTCAGCAGTCCTCTTATGTCTGTGCATAGGGAGAAATTAATATTGTAAATTGATTTCCCACTGGCGATAGGAAGGGGTAGCTAACATGGCAAAACACTCAGCAT
TTCCTTTGAAAAATATCTTTGAGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGTGGGCGGATCACTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGCAAAACCCCG
TCTCTACTAAAAATACCAAAATTAGCCAGGGATGGTAGCAGGCGCCTGTGATCCCAGCTACTCGGGAGGCTTAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGATGTTGCAGTGAGCCG
AAATCATGCCACTGTACTACAGCCTGTGCGACAGAGCAAGACACAATCTCAAAAAAAAAAAATATGTATATATATATATATATATATATATACACACATGTATCTTTGAAATACCCCTTGCC
CAGTCTTGAGTTGTGCAAGCACTGATTGTCTTTCTGTCTTCCTTTCCGTCTATGTCCTGCTACCCTGACTTGGAGGCAAAGTTTCGTGGTTTCCTGTCCTTCCCCCTCGGCTCCCCTATACTTA
CATGTCTTAGTTGGAGCTTACATTGCAGCTTGGGAGACAGACAAATACAAGATGAAACAATTATATATCACAGGATGAGGAGAGCACAACTGTAACTGTTCACATTCCTGCCTCCTAGGGG
ACTTGAAGTTCTGATCTGTAGGCCTAGGCTGAACCAGGACATTTGTGATTATAATCAATTCCCTAAGTGTATGTTAGGTACACCAATTTTGAGAATCAATTTTGGATTATATATGCTTTCTTG
TTTTTATTATATACCATATACATACATATTTGTATATATAGTACCTGATATATATATATATATATATATATATATATATATATATATATATATACTTCTATGTTCTACTTTTTCATTTTAACATA
GTTTATGACTATATTCTCATTTTATTAAAAACTTGAGCCAGGCATGGTGGCTCATGCCTATAATCCCAGCACGTTAGGAGGCCAAGGCAGGGGGATTGCTTGAGGCCAGGAGTTGGAGACC
AGCCTGGGCAACATAGAGAGCCACTATCTCTAAAATAATATAATAATTTACTCCAGTGCTGGAATAGTATTGCTTAAAACAAAAGAAAAACTTGAAAGCATAACTTTCAATGGTCTTTTAGG
TTCCCATTGTATAAATGGAGCATAAAGTTTAAGGTATTTTCCTTATTTTTGTATGTTTATTCTAATTTTCACTAGTTACAAGTTATGTTGCAATGACATTCCTATCTATAAACTATTTCCCACC
TTCTGATAAATTCTTTCTGACAGAATCTTAGAATTGAAACTACTAGGTGAAAAGATCTGCATTCTTTAAGATTTTAAAGCATGGTACTAAATTATTTTCCAGAAAAGTTGTAATCATTTATAC
GAACAGTTATAAAATTACTCTCTGACCCCATTCTGTCAGTTTCAAATGCTATATTTTATTACTAATTTGACAGCTGAAAACAGCTTATTTTCATGTCTTGTTAATTTGCATGTATTTGATTATA
GAGACGTTAAACATTTTTTTCTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTTTTGTCCAGGCTGGAGTGCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCT
CCCGAGTTCAAGCAATTCTCCTGCCTCAGCCTTCCCAGTAGCTGGGATTACAGGCACGCACCACCACATCTGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTGGCCAGG
CTGGACTCAANNNNNNNNNNNNNNNNNNNNCTATTTGTAGGAGTGATCAACTGTGACAAAGCTGTGGACAGGCTGAGTACTGAGAATGGCCAGCTGACAGGAGTGGAGAGAAGGTAT
GTGATGGGCCTGTGAGAGAGTGAGGCAAAGAACTGACCCGGGAAAAGGAATTGCACTGGGCAGTGCTGTCATGAGGTTGATGAGACAGTAAGAACTGTCCACTTGAGATTTCTGGTCATC
GATTTAAATAAGACTGGGCTCATAATTATATGCTTTTC
TCCAGATACTTTCAGCTGCTTAGATAAGGATACAAAAAAAAAAAAAAGTTATATTTAACCAAGTTTGGGGTTTCCCCAAGCAA
GTAAGATGCAAGATTGACTATTGGGTTGGGTAAGGTGGGTACTAAGTATGTGAGGATAATGAGACATAGACAGTAGGTGTCATCAGTCCGGCCGAGGGCGAATACAAGGATGGGAAACA
TGAGCTTTTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAATAAATGAAAAATAAACTAGGACATCATAGCTGCCTTATTCACAATAGCCAAAAGGTGGAAGCAACCCAGA
TATCCACTGATGGATGAATGGATAAACGAGACGTGGCATAGACATAAAATGGAATATTACTCCACATTTATTAAAAAGGGAAGAAATCATCACATGCTACAACATGGATGAACCTTGAGGA
CATTATGCTATGTGAAATAAGCCAGACACAAAAAGACAAACGCTGTATGATTCCATGTATAGGAGGAAACTAGAGCAGTCGAATTCATGGAGAGAGGAAGGAGAATGGCAGAGGCCAGG
GGCTGGGGTAGGGGAGAAATGGAGAGCTCTTTAATGGGAGTAGAATTTCTGTTCAGAAAAATGAAAAAGTTCTGGAGATTGGTTGCACAACAATGTGAATATACTTAATAATACTGAACT
GTGCACTTAAAAATAGTTAAGATGGCCCGGGCGCGGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCGGGCAGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAAC
CCGGTGCAACTCCGTCTCTACCAAAATGCAAAAAATTAGCCGGGCGTGGTGGCGGGCCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACGCGGGAGGCGGA
GCTTTCAGTGAGCCGAGATGGCACGACTGCACTCCAGCCTGGGCGACGGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAGTTTAGGAAGGAGTTCTCTCCTTGCCAACT
CTCCAACTGCTCTGCATTTCATAGTCCTGATTTTCACAAAACACTCTCTAAAGGAACATTATTTTTTTAAGCCACCTTGTCTTCTAAAATCTTTCAGCTAGAGTAAAGTCATTTGGATGATTTC
TTCAGGTCCATAGGAAATGAATCCCCCAGTGGTTTCCACAGTCAGAGCCTCCTGCCCTCGCTCACCTGCTGTTCGTGTCTCTGGTTGGTTTCAGGCGGAAAACTCTCTGTTGTCCTGCGAGCT
GAAGATATCCCGGAGCTCCTGCTAGAACCACCCATATCTGCGCTTGCCCAGGTGACAGCAGCCCAAAAATATACCTGTAACATCTGAGGAGAGTTTGATTTTAATTTTTTAAAAACAAGAG
AAGTTTTGGTCTATTGGTTTGACATTTCTGTAAATGCCTCAGAATGAGTGGTGTATGTTCTCCAGGTTCATAATTACCTTAAAAACAAAATCTTGAAGCTGCAGCTCCTGCTTGGTCAAGTGT
CAGCTTCCCTGCAGGAAGAAGCCACTTGCCTCTGCTGGCTCTGATTTTTGAGTCCAAAATAGCTTATAGGATAAGAGATGAGATTATGGCAAAACAGGTACTAGGGTAAAGGGGTTTTTCA
AAAATGTGCACCTGGCCAAACACGGTGGCTCACTTCTGTAATCCCAGCACTTTGGGAGGCGGAGATGGGAGGGTTGTTTGAGCCAGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAAC
TCCTTCTTTGCTAAAAATACAAAAATTAGCAAGGCATGGTGATGCATGCCTGTAGTCCAGCTGCTCGGGAGGCAATCCTCCCACCTCAGCCTCCCAAAGTGTCAGGATTACAGGCATGAGCC
ACCACACCCAGCCAACTATCACTTTTTAACTATAATTTATATTTTTTATTTTATTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCGGCTCACTG
CAACCTCTACACCCTGGATTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGTGCACCACCACGCCCGGCTAATTTTGTATTTTTAGTAGAGATGGGCTTTCACCAT
GTTGGTCAGGCTTGTCTCAAACTCCTGACCTCAGGTAATCCACCTGCCTCGGCCTCCCAAAGTGCTGGAATTACAGGCTTGAGCCACCGCGCCAGCCTTTAACTATAATTTTTAAAAGAAAA
ATTAAAATAATCTGGGAAGTGAACAGCTTTGGGCCCCCTTGGGCAGCTGGGCAGTCTGGAAGCCATGGGAACCACCGCCGGTCTCCGTAGTTCTGCAGCATCGCCCTGGTGCTGTAGAGAT
GTTGTGCTGCTCATTGGCGTCTGTGCGTTGATGGGGGCCCCAGGAGTCAGGGTCTGGTCTTCAGATTTTCCATTTCAAACATGATGGAACCAAGACTGATAAGGTTCTGGAGGGACAACTC
CCAGGCTGATTGCACGGCCAGAATGGCACCTAAATTAGTTTACAGAGGGCGATAACTGCTATCAGTTATGAACGCAGGAGACCAAAGTGCTGATCAGAAAAATGCTTGTCGAGAAATAGC
CTTTGTACTGGTCTATCTGCCCCAGTCCATGCTGTGCAATGCTTCTGGGTCATCTCCCAAAAGCACAGTTCTGACCAGTTACCTGCTGGGAAGCCACACTTCCGAGTGGGACGAATCCCACA
GGACCCTCCAGTGCATGAACGTGTGGGCGTCTCTCTCTGTCTCTCTCTGGCCTCACCTCCTATTTTGTCCATGTGAGTGCTATGCTTGCTTCCTACCCTCCTGCATCCCCTACTGGACGTCCTT
CCTGTCTTCCTGCCTTCCTCAAATCTCCTTCCAGCAAAATTTTCTCCATTGTTAATGTACACGTAACTGTGCTCTCCAGCTGAGGCCTCGCTCAGTAACACTCCCTCACTCACCCTGATGCACT
CTGTCCCCACCCGGACCCTTAGCCATTGCTTTAGACCAGTGGTTCCCAAGCTTGAGTGGGCATCAGAACCACCTAGAGAGCTAGGAGAGAGCACGGAGACCAAGACTTAATGTGGTGGGA
CCCACCTGGGCCTGCACAGGCATCCGAAGTCCCCAGGTGAGTCTAATCCCC


1
leht

= 9000
tähte


1
raamat
= 9 000 000
tähte


1
genoom
= 366
raamatut



Tähestik
:


A G C
T



20 000
mõistetavat



sõna

ehk

tähte












Euroopa

geneetiline

kaart

21

Nelis & Esko et al 2009


Eesmärgiks

arendada

tagasivaatav
,
pikajaline
,
populatsioonip
õ
hine

andmebaas
,
mis

võimaldaks

erineva

ülesehitusega

(
geneetika
)
uuringuid

ning

viia

ellu

personaaliseeritud

meditsiini
.



Luua

andmebaas

elustiili
,
tervisekäitumise

ning

põetud

haiguste

kohta
,
kus

iga

indiviidi

kohta

oleks

kogutud

ka DNA,
plasma
ning

vererakud
.



Pidev

andmebaasi

uuendamine

kasutades

riiklikke

elektroonilisi

andmebaase
.




27

60670

56490

36719

36533

34646

19701

17727

12652

11572

11472

11063

9985

8050

5091

3039

2845

2797

1257

1248

506

124

0
10000
20000
30000
40000
50000
60000
70000
Certain infectious and parasitic diseases
Diseases of the respiratory system
Diseases of the circulatory system
Diseases of the digestive system
Diseases of the musculoskeletal system and connective tissue
Diseases of the genitourinary system
Diseases of the eye and adnexa
Diseases of the ear and mastoid process
Diseases of the skin and subcutaneous tissue
Endocrine, nutritional and metabolic diseases
Diseases of the nervous system
Mental and behavioural disorders
Neoplasms
Injury, poisoning and certain other consequences of external causes
Pregnancy, childbirth and the puerperium
Symptoms, signs and abnormal clinical and laboratory findings
Diseases of blood and blood-forming organs
Congenital malformations, deformations and chrom. abnormalities
Factors influencing health status and contact with health services
External causes of morbidity and mortality
Certain conditions originating in the perinatal period
Kõrgeim
suremus
südame
-

haigustesse

Väga madal
südame
-

haiguste
esinemis
-

sagedus;
madal
keskimine
KMI

Südame
-
haiguste
sagedus
kõrgeim

Inimestest, kellel on Teiega
sarnane genotüüp ja
kehakaal, põevad 25% II
tüüpi diabeeti. Haiguse
riski saab oluliselt
vähendada, langetades
kehakaalu.


Uuringud on näidanud, et
mõnevõrra suurendab
riski ka suitsetamine.




P
redictive





Ennustav


P
ersonalized





Personaalne


P
reventive





Ennetav


P
articipatory





Osavõtlik



Tuleviku

tervishoid

eeldab

inimeste

suuremat

panust

ning

eeldab

tarku

valikuid
!