1、 2016 14 6 17 Khan F Am at yaB NgL etal el ev anceand com pl et enessoft heI nt ernat ionalCl assificat ion of Funct ioning D isabil it y and Heal t h I CF com prehensiv ebreastcancercoreset t hepat ientperspect iv ein an Aust ral ian com m unit y cohort J J ehabilMed 2012 44 7 570 580 18 Gril lE Ew
2、ertT Chat t erjiS etal I CFCoreSet s dev el opm entfort heacut e hospit aland earl y post-acut e rehabil it at ion facil it ies J D isabil ehabil 2005 27 7 8 361 366 19 Gril lE Herm es SwobodaW etal I CFCoreSetforgeriat ricpa-t ient sin earl ypost-acut erehabil it at ion facil it ies J D isabil ehab
3、il 2005 27 7 8 411 417 20 Lem bergI Kirchberger I St ucki G etal TheI CF CoreSetforst rokefrom t heperspect iv eofphysicians aworl dwidev al idat ion st udyusingt heD el phit echnique J EurJ Phys ehabilMed 2010 46 3 377 388 21 Marques A Mart ins A J com eC etal Linkingt heEASY-carest andard t o t he
4、 int ernat ionalcl assificat ion of funct ioning disabil it yand heal t h J D isabil ehabil 2014 36 7 593 599 22 St uckiG Kost anjsek N U st n B etal I CF-based cl assificat ion andm easurem entoffunct ioning J EurJ Phys ehabilMed 2008 44 3 315 328 23 VogtD S KingD W KingLA Focusgroupsin psychol ogi
5、calassess-m ent enhancingcont entv al idit y by consul t ingm em bers oft het argetpopul at ion J PsycholAssess 2004 16 3 231 243 24 Sul t erG St een C D eKeyserJ U seoft heBart helindex and m odi-fied ankin scal ein acut est roket rial s J St roke 1999 30 8 1538 1541 25 D ongY Sharm aVK Chan BP eta
6、l TheMont realCognit iv eAs-sessm ent MoCA is superiort o t heMini-Ment alSt at eExam inat ion MMSE fort hedet ect ion ofv ascul arcognit iv eim pairm entaft eracut est roke J JNeurolSci 2010 299 1 2 15 18 26 Organizat ion W H I nt ernat ionalCl assificat ion ofFunct ioning D isa-bil it yand Heal t
7、h-Chil dren and Yout h Version J I nt ernat ionalcl as-sificat ion offunct ioning disabil it y and heal t h-chil dren yout h v er-sion 2007 v ol um e53 4 349 350 2 27 OC sT EM-1、PCT C P J 2011 15 11 1885 1887 2016 10 30 2【】2 Type2 diabet es T 2D。T 2D T 2D T 2D。20 T 2D T 2D、T 2D。【】2 d o i 10.3969/j.i
8、ssn.1672 4860.2016.06.004Th e e s e a r c h o f Ge n e t ic is k Va r ia n t s f o r Ty p e 2 Dia b e t e s in Ch in e s e Po p u la t io n ZHANG Ji n k u n CHE N Ch ao LI Zh i p e n g YANG Ze.Th e M O H K e y Lab o r at o r y o f Ge r i at r i c s Be i ji n g h o s p i t al Nat i o n al Ce n t e r
9、o f Ge r o n t o l o g y Be i ji n g 100730 P.Ch i n a.【Ab s t r a c t】Type2 diabet eshas becom eal eadingheal t h probl em cont ribut ed by acom binat ion ofm ul t ipl egenet ic and env iron-m ent alfact ors.ecent l y wit h m arked increaseoft hepeopl ewit h T 2D m oreand m oreat t ent ion is conce
10、nt rat ed on T 2D wit hin t heworl d.Moreov er t hem orecom prehensiv est udieson t heT 2D s genet ic et iol ogy and underst andingoft hedisease-associat ed genes t hem oreresearchesint ot hegenesassociat ed wit h t ype2 diabet essuscept ibil it y.Thisart icl erev iews20 v erified suscept ibil it yg
11、enesforT 2D and t hest udies aboutt hem conduct ed in Chinesepeopl e incl udingt hefunct ion ofT 2D suscept ibil it y genes pat hogenicm echanism and t hecurrentresearch st at usofChinesepeopl e【Ke y w o r d s】Type2 diabet es Suscept ibil it yGenes Pat hogenicMechanism GeneFunct ion、T 2D。2030 T 2D 2
12、000 1.7 3.7 2/3 6 1 2016 14 6、1。T 2D 2。T 2D 2。2000 2008 T 2D 9%23%40 T 2D 4 3。T 2D T 2D。T 2D Genom e-wide associat ion st udies GW AS 4 7 T 2D T 2D。T 2D GW AS。T 2D GW AS 70 SNP T 2D。GW AS 2。T 2D T 2D T 2D T 2D。1.T2D 20 T 2D SNPs singl enucl eot idepol ym orphism T 2D。T 2D。1.1 C2CD 4A/B C2 Cal cium-D
13、 ependentD om ain Cont ai-ning4A/B、。I L-1h I nt erl eukin 1 bet a 8。T 2D 2。C2CD 4A/B SNPs rs1370176 rs1436953 rs7172432 8000 T 2D 4。T 2D 4。1.2 CD C123 cel ldiv ision cycl e123 GW AS T 2D。SNPs rs12779790 CD C123 CAMK1D cal cium/cal m odul in dependentpro-t ein kinaseI D CD C123 3 U T。Annem arieM CD C
14、123 CAMK1D T 2D。CAMK1D B B 9 T 2D。T 2D T 2D 10。1.3 CD KAL1 CD K5 egul at ory SubunitAssociat ed Pro-t ein1 Like1 CD KAL1 T 2D。2015 CD KAL1 CD K5 CD KAL1 CD K5 T 2D。2008 T 2D CD KAL1。T 2D 10。1.4 CD KN2A/B cycl in dependentkinaseinhibit or2A/B CD KN2A/B P16I NK4A B 11。CD KN2A/B SNPs 1 CD KN2A/B 11。CD
15、KN2A/B SNP rs10811661 T 2D。SNP rs10811661“T”。CD KN2A/B P16I NK4A P15I NK4B P14A F。T 2D SNP CAD。1 11 CD KN2A/B SNPs 1.5 CENTD 2 Cent aurin-D el t a-2 11。B T 2D 12。Yun Qian 13 5U T SNP rs1552224 T 2D、T 2D 12。1.6 CHCHD 9 coil ed-coil-hel ix-coil ed-coil-hel ix dom ain 7 1 2016 14 6 cont aining9。T 2D 14
16、 T 2D T 2D。1.7 EX T 2 exost osin gl ycosyl t ransferase2 Hh hedgehogsignal ingpat hway。T 2D、T 2D。T 2D。2013 LeiLiu EX T 2 T 2D 15。2015 Qian en 14 EX T 2 T 2D 16。T 2D。1.8 FTO al pha-ket ogl ut arat edependentdioxygenase。m NA 12。FTO T 2D T 2D 10。T 2D。1.9 HHEX hem at opoiet ical l y expressed hom eobox
17、HHEX W nt。B T 2D。2014 ZhangJ 17 HHEX D D。HHEX D T 2D。HHEX T 2D 2 SNPs rs10748582。1.10 HHEX/I D E hem at opoiet ical l yexpressed hom eobox/insul in degradingenzym e I D E。2013。I D E、B-T 2D。2014 T 2D。T 2D 18。SNP rs5015480 T 2D 18。1.11 HNF1B hepat ocyt enucl earfact or1 HNF1B。19。SNP rs2229295 m i-NA H
18、NF1B T 2D 19。HNF1B T 2D。2012 2009 20 HNF1B T 2D。1.12 I GF2BP2 insul in l ikegrowt h fact or2 m NAbindingprot ein2 2 I GF2 m NA 5 U T I GF2。SNPs I GF2BP2。T 2D。T 2D 21。1.13 JAZF1 JAZFzincfinger1 JAZF1。JAZF1 SNP rs1635852 JAZF1。JAZF1 N 2C2 T 2D。T 2D SNP rs864745 T 2D 22。1.14 KCNJ11 pot assium v ol t ag
19、e-gat ed channelsubfam il yJm em ber11 Kir6.2 SU 1 KATP 2。KCNJ11 Kir6.2 KATP T 2D。KCNJ11 6 SNPs rs5219 KATP。2015 T 2D SNP T 2D。1.15 KCNQ1 pot assium v ol t age-gat ed channelsubfam il yQm em ber1 kcnq1 B。KCNQ1 NA KC-NQ1 T 2D SNPs NA 8 1 2016 14 6 T 2D。KCNQ1 T 2D。KCNQ1 T 2D 23。Kir 6.2 SU 1。KATP K+K+C
20、a2+Ca2+Ca2+。2 24 B KATP 1.16 SP Y2 sprout y TK signal ingant agonist2 SNP rs1359790 SP Y2 T 2D、25。rs1359790 T 2D 5。T 2D。1.17 PTP D prot ein t yrosine phosphat ase recept or t ypeD、。T 2D。PTP D SNP rs17584499 T 2D T 2D 6。26。1.18 SLC30A8 sol ut e carrier fam il y 30 m em ber 8 SLC30A8 B。T 2D 27。SLC30A8
21、 SNPs m et a SNP rs13266634 T 2D 27。T 2D 28。1.19 TCF7 L2 t ranscript ion fact or7 l ike2 TCF7 L2 W nt。SNPrs7903146 TCF7 L2 W nt T 2D 29。T 2D 29。T 2D。1.20 VPS26A VPS26 ret rom ercom pl ex com ponentA T 2D m i NA m i NA VPS26A SNPs m i NA 30 B。SNP rs1802295 T 2D 7 T 2D VPS26A。2.20 T 2D T 2D、T 2D。T 2D
22、T 2D、T 2D。1 W il d S ogl icG GreenA etal Gl obalprev al enceofdiabet es est i-m at esfort heyear2000 and project ions for2030 J D iabet es Care 2004 27 5 1047 1053 D OI 10 2337/diacare 27 10 2568 2 QiQ W angX St rizich G etal Genet icD et erm inant sofType2 D iabe-t es inAsians J I ntJD iabet olVasc
23、D is es 2015 2015 Suppl 1 D OI 10 19070/2328-353X-SI 01001 3 X ueY GaoM GaoY Chil dhood t ype2 diabet es isksand com pl i-cat ions J Exp TherMed 2016 12 4 2367 2370 4 CuiB ZhuX X uM etal Agenom e-wideassociat ionst udyconfirm sprev iousl yreport ed l ocifort ype2 diabet es in Han Chinese J PLoSONE 2
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26、dby acut einfl am m at ion in endot hel ialcel l s J Gene 2004 342 1 85 95 22 9 1 2016 14 6 2015 29 1 6 9 2.J 2013 33 14 3491 3492 3.J 2012 14 6 587 589 4.AMI J 2016 35 11 112 113 5.J 2015 24 26 2932 2934 6.J 2007 9 4 278 2016 10 31 19 9 Grarup N Andersen G Krarup NT etal Associat ion t est ingofnov
27、 elt ype2 diabet es risk al l el es in t he JAZF1 CD C123/CAMK1D TS-PAN8 THAD A AD AMTS9 and NOTCH2 l ociwit h insul in rel ease insul in sensit iv it y and obesit y in apopul at ion-based sam pl eof4 516gl ucose-t ol erantm iddl e-aged D anes J D iabet es 2008 57 9 2534 2540 10 KongX X ingX HongJ e
28、tal Genet icv ariant sassociat ed wit h l eanand obeset ype2 diabet esin aHan Chinesepopul at ion A case-con-t rolst udy J Medicine Bal t im ore 2016 95 23 e 3841 11 KongY Sharm a B Nwosu BU etal I sl etbiol ogy t heCD KN2A/B l ocus and t ype2 diabet es risk J D iabet ol ogia 2016 59 8 1579 1593 12
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30、us am ongChineseHan popul at ion J MolCel lEndocrinol 2015 407 46 51 14 ees SD HydrieMZ Shera AS etal epl icat ion of13 genom e-wideassociat ion GW A-v al idat ed risk v ariant sfort ype2 diabet esinPakist anipopul at ions J D iabet ol ogia 2011 54 6 1368 1374 15 Liu L Yang X W ang H etal Associat i
31、on bet ween v ariant s ofEX T 2 and t ype2 diabet es arepl icat ion and m et a-anal ysis J HumGenet 2013 132 2 139 145 16 enQ X iaoJ HanX etal I m pactofv ariant soft heEX T 2 geneonType2 diabet es and it s rel at ed t rait s in t heChinesehan popul at ion J Endocr es 2015 40 2 79 82 17 ZhangJ McKen
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35、018 22 Zhou D Z Liu Y ZhangD etal Variat ionsin/nearbygenescodingforJAZF1 TSPAN8/LG 5 and HHEX-I D E and risk oft ype2 diabe-t esin Han Chinese J JHum Genet 2010 55 12 810 815 23 ZhangW W angH Guan X etal Variantrs2237892 ofKCNQ1 I sPot ent ial l yAssociat ed wit h Hypert ensionand Macrov ascul arCo
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37、 Hu C Genet ics oft ype2 diabet es insight s int o t hepat hogenesisand it scl inicalappl icat ion J Biom ed es I nt 2014 2014 926713 26 GongY McD onough CW Beit el sheesAL etal PTP D geneasso-ciat ed wit h bl ood pressureresponset oat enol oland resist anthypert en-sion J JHypert ens 2015 33 11 227
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