janyu sahasambandham

bahula vaividhya parimaanaatmaka janyusaastramlo, janyu sahasambandham (suuchimchabadina suutram _ 1 ledhaa suutram _ 2) anedi janyu kaaranaala valla rendu lakshanaalu panchukune vaividhyam yokka nishpatti, oka lakshanampai janyu prabhavalu mariyu pleotropy ledhaa kaarana ativyaapti yokka sthaayini anchanaa vese vaerae lakshanampai janyu prabhaavaala madhya sahasambandham. 0 yokka janyu sahasambandham oka lakshanampai janyu prabhavalu marokati nundi swatantramgaa unnayani suuchistumdi, ayithe 1 yokka sahasambandham rendu lakshanaalapai janyu prabhaavaalannii okela unnayani suuchistumdi. kaarakaala vislaeshanhanu upayoginchi 2 lakshanaalalo janyu gupta chararaasulanu oohinchadaaniki dvi-vaividhya janyu sahasambandhaanni saadhaaraneekarinchavachchu. janyu sahasambandha namuunaalu namuunaalu pravartanaa janyusaastramlo pravesapettabaddaayi.
janyu-vistruta anubandha adhyayanam (zii. vii. eah) phalitaala dhruvikarana, santanotpatti, lakshanaala anchanaa mariyu lakshanaalu & vyaadhula kaaranaalanu kanugonadamlo janyu sahasambandhaalu anuvartanaalanu kaligi unnaayi.
janta adhyayanalu mariyu molecular genetics nundi vyaktigata-sthaayi daetaanu upayoginchi ledhaa GWA saaraamsa ganaamkaalato kooda vaatini anchanaa veyavachu. janyu sahasambandhaalu maanavetara janyusaastramlo saadhaaranamainavigaa mariyu vaati sambandhita samalakshana paraspara sambandhaalato vistrutamgaa pooli untaayi, mariyu 'samalakshanam' anie piluvabade maanava lakshanaalalo kooda vistrutamgaa kanipistaayi.
vistrutamaina pleotropy yokka eee aavishkarana vyavasaayamlo krutrima empika, samalakshana paraspara sambandhaala vivarana, saamaajika asamaanata, kaarana anumatiki mendelian yaadruchchikatanu upayoginche prayatnaalu, sanklishta lakshanaala jeeva muulaala avagahana mariyu vaayuvula roopakalpanapai chikkulanu kaligi undhi.
janyu sahasambandham anedi rendu lakshanaalanu prabhaavitam chese vaataavaranaala madhya paryaavarana sahasambandhamtho viruddhamgaa undaali (udhaa.zii. oka intlo poeshakaahaara lopam kaaranamgaa takkuva iqu mariyu etthu rendoo sambhavinchinatlayithe); rendu lakshanaala madhya janyu sahasambandham rendu lakshanaala madhya gamaninchina (samalakshana) sahasambandhaaniki dohadam chestundi, ayithe paryaavarana sahasambandham maroka disalo taginanta balamgaa unte, janyu sahasambandhaalu kooda vyatiraekamgaa undavacchu, bahusha marpidi ledhaa pratyekata kaaranamgaa. janyu sahasambandhaalu saadhaaranamgaa samalakshana sahasambandhaalanu pratibimbistaayane pariseelananu "cheverud yokka ooha" anie pilustaaru mariyu jantuvulu mariyu maanavulalo dhruvikarinchabadindi mariyu avi oke parimaanamlo unnayani choopinchindi; udaaharanaku, yuke biobanklo, 118 nirantara maanava lakshanaalalo, vaati paraspara sambandhaalalo 29 saatam matrame vyatiraeka sankethaalanu kaligi unnaayi, mariyu 17 adhika-naanhyata ukbb lakshanaala yokka tadupari vislaeshanha aikyataku sameepamlo sahasambandhaanni nivedinchindi.
vivarana.
janyu sahasambandhaalu vaarasatvaaniki samanam kaadu, endukante idhi rendu rakaala prabhaavaala madhya ativyaapti gurinchi, vaati sampoorna parimaanam gurinchi kaadu; rendu lakshanaalu atyanta vaarasatvamgaa undavacchu conny janyuparamgaa paraspara sambandham kaligi undavu ledhaa chinna vaarasatvaalanu kaligi undavacchu mariyu puurtigaa paraspara sambandham kaligi undavacchu (vaarasatvaalu sunna kaanivi unnanta varaku).
udaaharanaku, rendu lakshanaalanu pariganinchandi-nallati charmam mariyu nallati juttu. eee rendu lakshanaalu vyaktigatamgaa chaalaa ekkuva vaarasatvaanni kaligi undavacchu (janyu vyatyaasaala kaaranamgaa lakshanamlo janabha-sthaayi vaividhyam, ledhaa saralamgaa cheppalante, janyusaastram eee rendu lakshanaalaku gananeeyamgaa dohadam chestundi), ayithe, udaaharanaku, eee rendu lakshanaalu ververu, ativyaapti chendani, anusandhanam kaani janyu sthaanam dwara niyantrinchabadutunnatli avi ippatikee chaalaa takkuva janyu sahasambandhaanni kaligi undavacchu.
rendu lakshanaala madhya janyu sahasambandham samalakshana sahasambandhaalanu utpatti chestundi-udhaa.zii. medhassu mariyu ses ledhaa vidya mariyu kutumba ses madhya janyu sahasambandham anedi medhassu/ses kooda samalakshanamgaa sahasambandham kaligi untaayani suuchistumdi. samalakshana sahasambandham janyu sahasambandham yokka sthaayi dwara mariyu prati lakshanam yokka vaarasatvam dwara kooda parimitam cheyabadutundi. oohinchina samalakshana sahasambandham "dwibhinna vaarasatva" mariyu janyu sahasambandhamtho guninchabadina vaarasatvaala varga mulaluga lekkinchavacchu. (oka plamin udaaharananu upayoginchi, 0.60 & 0.23 vaarasatvaalu kaligina rendu lakshanaalaku, suutram _ 3, mariyu "r" = 0.45 yokka samalakshana sahasambandham kosam dvividha vaarasatva vaarasatva suutram _ 4 avutundi, kabatti gamaninchina samalakshana sahasambandham, 0.28/0.45 = 62 saatam janyusaastram kaaranamgaa untundi.)
kaaranam.
janyu sahasambandhaalu eee krindi kaaranaala valla talettavachuhu
upayoginchandi.
lakshanaalalo maarpulaku kaaranaalu.
janyu sahasambandhaalu saastriiyamgaa upayogapadataayi endukante janyu sahasambandhaalanu kalakramena oka vyakti lopala rekhaamsamgaa vislaeshimchavachchu (udhaa.zii. adhe janyu prabhaavaala kaaranamgaa-balyam janyuparamgaa vruddhaapyamtho suutram _ _ sahasambandhistundi), ledhaa adhyayanalu ledhaa janabha ledhaa jaathi samuuhaalu/jaatula antataa, ledhaa roganirdhaaranala antataa, vividha janyuvulu jeevitakaalamlo oka lakshanaanni prabhaavitam chestaya (saadhaaranamgaa, avi cheyavu), ververu sthaanika vaataavaranaala kaaranamgaa ververu janyualu ververu janabhalo oka lakshanaanni prabhaavitam chestaya, samayaallo ledhaa pradaesaalaloo ledhaa lingamlo vyaadhi vaividhyata undaa (mukhyamgaa manasika roganirdhaaranalo 1 desham yokka 'autism' ledhaa 'schizophrenia' marokati maadirigaane undaa ledhaa roganirdhaarana vargaalu samayam/pradaesamloe maraiah anae anischiti undhi, gurthunchukodaniki pakshapaatam yokka vividha sthaayilaku daariteestundi), mariyu swayam pratirakshaka ledhaa manasika rugmatalu ledhaa abhignaa paniteeru vanti lakshanaalu yea sthaayiki jeevasambandhamaina aadharam mariyu janyu nirmaanam (udaaharanaku, chadavadaaniki mariyu chadavadaaniki), sthiramaina ganitam mariyu vaikalyam, eee nirdishta samaya-sambandhita charyalu, abhignaa charyalu, gurthunchukodaniki mariyu gurthunchukovadaaniki, nirdishta samaya-sambandhita charyalu, abhignaa charyalu, gurthunchukodaniki, gurthunchukodaniki, gurtha neuroanatomical kolatala maadirigaane annee adhika janyu sahasambandhaalanu chuuputaayi, mariyu sahasambandhaalu vayassutho paatu peragavacchu, kaaranasaastram & medhassu yokka swabhaavam yokka chikkulatho). rendu lakshanaala bhaavanapai idhi oka mukhyamaina addanki kaavachuh samalakshanaparamgaa bhinnamgaa kanipinche conny saadhaarana janyu aadharaanni panchukune lakshanaalu eee janyuvulu rendu lakshanaalanu elaa prabhaavitam chestayanedaniki vivarana avasaram.
vaayuvulanu penchadam.
rendava lakshanam kosam vaividhyaala mundastu sambhaavyatanu penchadaaniki oka (tarachugaa marinta sulabhamgaa koliche) lakshanam kosam bahujanyu skorlu ledhaa janyuvu-vistruta hitlanu upayoginchadam dwara janyu sahasambandhaalanu upayoginchavacchu; udaaharanaku, medhassu mariyu vidya samvatsaraalu janyuparamgaa paraspara sambandham kaligi unnanduna, vidya kosam oka Gwas kooda antargatamgaa medhassu kosam oka GWA avutundi mariyu medhassulo vyatyaasaanni kooda anchanaa veyagaladu mariyu balamaina SNP abhyardhulanu chinna GWA yokka ganaanka saktini penchadaaniki upayoginchavacchu, prati kolichina janyuparamgaa-sambandhita lakshanam koliche lopaanni tagginchadaaniki mariyu GWA yokka saktini gananeeyamgaa penchadaaniki sahayapade gupta lakshanampai samyukta vislaeshanha (udhaa.zii. crapol mariyu itarulu. 2017, saage nikara mariyu bahula bahujanyu skorlanu upayoginchi, medhassu anchanaanu 3.6% nundi 4.8% kii meruguparachadam; hill mariyu itarulu. itarulu vidya yokka 3 "graa"-load cheyabadina lakshanaalu, gruha aadaayam mariyu 107 hitlu & rettimpu anchanaa saktini kanugonadaaniki abhignaa pareeksha skornu kalapadaniki kalapadaniki upayogistundi) ledhaa bahula lakshanaala kosam samyuktamgaa oka gwas cheyavachu.
vibhina kolata paddhatulu, puurveekula prabhavalu ledhaa vaataavaranaalu paakshikamgaa ativyaapti chendutunna sambandhita janyu vaividhyaalanu matrame srushtistaayo anchanaa veyadam dwara janyu sahasambandhaalu datasetlalo paraspara sambandhaala sahakaranni kooda lekkinchagalavu, ivi tappudu "tappipoyina vaarasatvaanni" srushtinchavachu.
santanotpatti.
janyu sahasambandhaalu kooda anuvartita sandarbhaalalo upayogapadataayi, udaaharanaku, sulabhamgaa koliche conny atyanta janyuparamgaa paraspara sambandha lakshanaalanu (mukhyamgaa linga-anusandhaana ledhaa binary lakshanaala vishayamlo, liability-threashold modal kinda, ikkada samalakshanhaalalo thedaalu arudugaa gamaninchavacchu, conny maroka atyanta paraspara charya kolata, bahusha endophenotype, andarilo andubaatulo untundi), idhi santanotpatti kante vividha vaataavaranaalaku pariharam istundi, bahula-vaividhya pempakandaarula sameekaranaanni upayoginchi santanotpatti viluva gurinchi marinta khachitamaina anchanaalu cheyadam, prati-lakshanam vaarasatvaanni matrame upayoginchi yeka-vaividhya pempakandaarula sameekaranaanni aadhaaramgaa anchanaa veyadam mariyu lakshanaala swaatantryaanni oohinchadam, mariyu "x" lakshanam kosam/vyatiraekamgaa krutrima empika kooda x "lakshanamtho sanukoolamgaa/pratikuulamgaa sambandham unna anni lakshanaalanu penchutundi/taggistundi/taggistundi. lakshanaala paraspara sambandham dwara nirnayinchabadina empika parimitulu, mariyu deerghakaalika santanotpatti karyakramalalo janyu sahasambandhaalu maare avakaasam, empika yokka teevratanu parimitam chese haldane gandaragolaniki daariteestundi, tadwara purogati.
janyuparamgaa paraspara sambandha lakshanaalapai santanotpatti prayogaalu sahajamgaa paraspara sambandha lakshanaalu yea meraku abhivruddhi chendutaayi mariyu pratispandana parimitam cheyabadi, mariyu yea meraku vidadeeyabadutundo kolavgalavu. seethaakokachiluka "cyclus anenana" paie kanti macchala parimaanam vanti konni lakshanaalu santanotpattilo vidadeeyabadavachu, conny kanti maccha rangulu vanti itara jatala prayatnaalu pratighatinchaayi.
ganita nirvachanam.
janyu sahasambandha maatrukanu batti, janyu sahasambandham dheenini praamaaneekarinchadam dwara lekkinchabadutundi, i.ii., covarians matricksnu correlation matrixga marchadam dwara. saadhaaranamgaa, suutram _ 6 anedi janyu sahasambandha maatruka mariyu suutram _ 7 ayithe, appudu paraspara sambandham maatruka suutram _ 8. rendu lakshanaala madhya icchina janyu sahasambandha suutram _ 9 kosam, okati janyu vaividhyam suutram _ 10 thoo mariyu marokati janyu vaividhyam suutram _ 11 thoo, janyu sahasambandham sahasambandha gunakam suutram _ 12 maadirigaane lekkinchabadutundi.
janyu sahasambandhaanni ganinchadam.
janyu sahasambandhaalaku janyuparamgaa samachara namuunaa avasaram. telisina vaarasatvapu rendu lakshanaalapai mariyu maroka lakshanamlo maarpunu kolavadaniki oka lakshanaanni enchukovadam (janyu sahasambandhaanni oohinchadaaniki veelu kalpinchadam), kutumbam/dattata/janta adhyayanalu (sems ledhaa defries-phul exterums vislaeshanhanu upayoginchi vislaeshimchabadimdi), zii. sii. tii. eah vanti sambandhaala yokka paramaanu anchanaa, hetch. dii. ell (hye-definition sambhaavyata), ell. dii. score regression, bolt-reml, sipbase ledhaa hess vanti bahujanyu skorlanu upayoginche paddhatulu, gwaslalo janyu-vistruta ess. enn. pii hitla poolika (vadulugaa unna diguva sarihaddugaa), mariyu kaneesam konni sambandhita vyaktulatoe janabha yokka samalakshana sahasambandhaalu vanti vaatipai vaatini anchanaa veyavachu.
snp vaarasatva mariyu janyu sahasambandhaanni anchanaa veyadam maadirigaa, merugaina ganana scaling mariyu sthaapinchabadina saaraamsa sangham ganaamkaalanu matrame upayoginchi anchanaa vese saamarthyam pootii paddhatula kante hcdl mariyu eldi score regressionku oka pratyeka prayojanam. yuke biobank vanti datasetla nundi zii. vii. eah. ess saaraamsa ganaamkaalu ledhaa bahujanyu skorla perugutunna labhyatatho kalipi, ituvanti saaraamsa-sthaayi paddhatulu 2015 nundi janyu sahasambandha parisoedhana yokka paeluduku daariteesaayi.
eee paddhatulu haseman-elston regression & pisijisi regressionku sambandhinchinavi. ituvanti paddhatulu saadhaaranamgaa janyuvu-vistrutamainavi, conny nirdishta vaividhyaalu ledhaa janyuvu praantaalaku janyu sahasambandhaalanu anchanaa veyadam kooda saadhyame.
dheenini pariganaloki teesukoovadaaniki oka maargam, ekajodi mariyu digygotic kavalala (i.ii. twin 2 yokka medadu parimaanaanni anchanaa vaeyadaaniki twin 1 yokka iqni upayoginchadam); digygotic kavalala kante janyuparamgaa-saaruupya monozygotic kavalalaku eee cross-correlation ekkuvagaa unte, saaruupyata lakshanaalu janyuparamgaa swatantramgaa levani suuchistumdi mariyu iqu mariyu medadu parimaanam rendintinee prabhaavitam chese konni saadhaarana janyusaastram undhi. (thobuttuvulanu upayoginchadam dwara kooda ganaanka saktini penchavacchu.)
janyu sahasambandhaalu paddati sambandhita aandolanala dwara prabhaavitamavutaayi; vargeekarana samyogam kaaranamgaa vaarasatvaanni takkuvagaa anchanaa veyadam, rekhansha janyu sahasambandham yokka atigaa anchanaa vaeyadaaniki daariteestundi mariyu mitamaina sthaayi tappudu roganirdhaaranalu nakilee sahasambandhaalanu srushtinchagalavu.
rendu lakshanaala vaarasatvaala dwara prabhaavitamainanduna, janyu sahasambandhaalu takkuva ganaanka saktini kaligi untaayi, mukhyamgaa kolata lopaala samakshamlo vaarasatvaanni krindiki pakshapaatam chestaayi, endukante "janyu sahasambandhaala anchanaalu saadhaaranamgaa pedda namuunaa lopalaku lobadi untaayi mariyu anduvalla arudugaa chaalaa khachitamainavi": anchanaa suutram _ 1 yokka praamaanika lopam suutram _ 14. (pedda janyu sahasambandhaalu & vaarasatvaalu marinta khachitamgaa anchanaa vaeyabadataayi.) ayithe, pleotropic lakshanam yokka vislaeshanhaloo janyu sahasambandhaalanu cherchadam valla adhe kaaranamgaa saktini penchutundi, bahula vaividhya tirogamanaalu pratyeka yeka vaividhya tirogamanaala kante marinta saktivantamainavi.
dwandwa paddhatulu vivaranaatmaka jeevasambandhamaina samacharam lekunda upayogapadagala prayojanaanni kaligi unnaayi, 1970la naati maanava janyu sahasambandhaalu mariyu mariyu lekkinchina janthu/mokkala janyu sahasambandhaalu, mariyu baga saktivantamainavi kaavadaaniki vandala sankhyalo namuunaa parimaanaalu avasaram, conny avi vimarsinchabadina anchanaalu cheyadamlo pratikuulatanu kaligi unnaayi, mariyu anorexia nervosa vanti arudaina lakshanaala vishayamlo ardhavantamaina cross-twin polikalanu cheyadaaniki rooga nirdhaaranatoo taginanta kavalalanu kanugonadam kashtam kaavacchu, mariyu janta daetaaku praapyathatho matrame anchanaa veyavachu; zii. sii. tii. eah ledhaa eldi score regression vanti paramaanu janyu paddhatulaku nirdishta sthaayi sambandham avasaram laeni prayojanam undhi mariyu kabatti cases-controll designlanu upayoginchi arudaina lakshanaalanu sulabhamgaa adhyayanam cheyavachu, idhi vaaru aadhaarapade anchanaala sankhyanu kooda taggistundi, conny aaa paddhatulanu iteevala varaku amalu cheyalemu, vandala ledhaa vaelaadi namuunaala parimaanaalu avasaram kaavacchu (nirdishta sthaayi lopam yokka praamaanika dayta), conny vyaktigata sthaayi lopam yokka janyu-sthaayi anchanaalalo chuudataaniki avasaram ledhu.
marinta khachitamaina, rendu lakshanaalu unte, etthu mariyu baruvu krindi sankalita janyu vaividhyam-sahasambandha maatrukanu kaligi unnayani cheppandi
appudu janyu sahasambandham. 55, krinda praamaanika maatruka kanipistundihi
aacharanalo, mx ledhaa openmx (mariyu daaniki mundu, chaaritraatmakamgaa, lisrel) vanti nirmaanaatmaka sameekarana namuunaa anuvartanaalu janyu sahasambandha maatruka mariyu daani praamaanika roopam rendintinee lekkinchadaaniki upayoginchabadataayi. r loe, matricksnu praamaaneekaristundi.
saadhaaranamgaa, prachurinchabadina nivedikalu mottam vaividhyam yokka nishpattigaa praamaaneekarinchabadina janyu vaividhyam bhaagaalanu andistaayi (udaaharanaku, v-total = a + c + e nishpattilo praamaaneekarinchabadina aes janta adhyayana namoonaalo). eee sandarbhamlo, janyu sahasambandham (janyu sahasambandham maatrukaloni vyatyaasam) ganana kosam metrik kolpotundi (praamaaneekarana prakriya kaaranamgaa), kabatti meeru atuvanti prachurinchina namuunaala nundi rendu lakshanaala janyu sahasambandhaanni takshaname anchanaa veyaleru. ayithe, bahula vaividhya namuunaalu (cholesky kullipovadam vantivi), maarga niyamaalanu anusarinchadam dwara veekshakudiki bhaagaswaamya janyu prabhavalanu (janyu paraspara sambandhaaniki viruddhamgaa) chuudataaniki veelu kalpistaayi. anduvalla prachuranalalo praamaanikam kaani maarga gunakaalanu andinchadam mukhyam.

