Handbook of Behavior Genetics

579 Pages·2009·11.73 MB·English

by  John C. Loehlin (auth.)

Handbook of Behavior Genetics
Yong-Kyu Kim
Editor
Handbook of Behavior
Genetics
123
Editor
Yong-KyuKim
UniversityofGeorgia
Athens,GA
USA
[email protected]
ISBN978-0-387-76726-0 e-ISBN978-0-387-76727-7
DOI10.1007/978-0-387-76727-7
LibraryofCongressControlNumber:2008941695
(cid:2)c SpringerScience+BusinessMedia,LLC2009
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Preface
Behaviorgeneticsisaninterdisciplinaryareacombiningthebehavioralsciencesandgenetics.
The study of behavior genetics has become increasingly important as we see growth spurts
in finding genes involved in complex behaviors following on advances in molecular genetic
techniques. This domain has been growing rapidly since the 1970s and increasingly receives
attention from many different disciplines. It has now become a vast common ground for sci-
entists from very diverse fields including psychology, psychiatry, neurology, endocrinology,
biochemistry,neuroimaging,andgenetics.
When I was invited to organize this book by Springer, I was preparing for a new course,
Behavior Genetics, at the University of Georgia in fall, 2005. Only a few textbooks were
available at that time, but I could not find good references for graduate students and scien-
tists. I thought that we needed to offer research guides to the studies of genetic and environ-
mentalinfluences onavarietyofcomplexbehaviors inhumans andanimals.Ihadlittleidea
abouttheproperscopeforsuchabook.IcontactedseniorcolleaguesoftheBehaviorGenet-
ics Association and they gave me excellent advice. I initially invited contributors who were
largely members of the Behavior Genetics Association and the handbook was outlined with
14chapters.AstheHandbookdeveloped,itbecameclearthatthefirstdraftwasnotsufficient
tocover allimportantdomainsinbehavior genetics.Inthesecondmeetingwithcontributors
during the BGA meeting in Hollywood, CA, we discussed expanding the handbook to other
relateddomains,suchasevolutionarypsychology,healthbehavior,andneurosciences.Iinvited
additional contributors from other disciplines, and added chapters on the history of behavior
genetics,quantitativemethodsandmodels,aswellasmorestudiesofanimalmodels.Nowthe
handbookstandswith34chaptersandintegratesmanyofthebasicissuesinbehaviorgenetics.
In each chapter, current research and issues on the selected topics are intensively reviewed
anddirectionsforfutureresearchonthesetopicsarehighlighted:newresearchdesigns,ana-
lytic methods, and their implications are addressed. It is anticipated that the handbook will
contributetoourunderstandingofbehaviorgeneticsandfutureresearchendeavorsinthe21st
century.
Chapter1addressesahistoryofbehaviorgeneticsgoingbacktosomeofPlato’sideasand
discusses the nature–nurture controversies on behavior in the modern era which sometimes
broughtaboutuproarinourcommunity.InPartI,weaddressdesignsandmethodsinbehavior
geneticresearch.Chapters2and4introducestatisticalmodelsandanalyses,i.e.,biometrical
models and multivariate genetic analyses, which explain genetic and environmental causes
of covariation between quantitative traits and comorbidity between disorders. In Chapter 3,
quantitative trait locus (QTL) analysis is introduced and methods of linkage and association
mappingofcontinuoustraitsarediscussed.ResultsoftheQTLanalysesinseveralquantitative
traits are presented throughout this volume. Chapter 5 addresses the importance of animals
as models of human behaviors – cognition, personality, and pathology are presented in this
volume.
Part II addresses the genetics of cognition in humans and animals with nine selected top-
ics. Chapter 6 discusses genetic and environmental influences on general intelligence using
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viii Preface
twin studies, followed by new twin research designs, analytic methods, findings, and their
implications.InChapter7,behavioralgeneticresearchoncognitiveagingisreviewed:genetic
andenvironmentalcontributionstoage-relatedchangesincognitiveabilities;contributionsof
genesandlifestylevariablestodementia,andtotheterminaldeclineincognitivefunctioning;
andquantitativemethodsforinvestigatingcognitiveagingarepresented.Chapter8addresses
behavioralgeneticresearchonreading,andthegeneticandenvironmentaletiologiesofread-
ing ability and disability are discussed. Chapter 9 explores behavioral and molecular genetic
studieselucidatingtheroleofthegenomeinthedevelopmentandmanifestationofdisorders
of speech and language. The human brain continues to show dynamic changes from child-
hoodintoadulthood.Geneticandenvironmentalinfluencesinbrainvolumesareaddressedin
Chapter10.Usingquantitativemagneticresonanceimaging(MRI),brainstructuresinpatients
with a clear genetic etiology are reviewed. Genetic approaches to the search for genes asso-
ciated with brain volume are discussed. Cognitive abilities in animals as models of human
behavior are presented in Chapters 11, 12, 13, and 14. Quantitative and molecular genetic
approaches to cognition research in rodents are presented in Chapter 11. Cognitive deficits
affectedbygeneticmanipulationsandmousemodelsforhumancognitivedisabilitiesaredis-
cussed.Specifically,Chapter12reviewshumancognitiveimpairmentassociatedwithchromo-
somal abnormalities, and mouse models of trisomy 21 are discussed addressing the relation-
shipsamonggenes,brain,andcognitivefunction.Drosophila(fruitfly)modelsofAlzheimer’s
diseaseareintroducedinChapter13.PathologicalrolesofAβ peptidesinflybrains,memory
defects,andlocomotordysfunctionsarediscussed.Chapter14addressesDrosophilacourtship
songswhichareutilizedforintersexualselectionandspeciesrecognitioninnature.Quantita-
tiveandmoleculargeneticstudiesonthephylogeneticpatternsofsongevolutionindifferent
speciesgroupsarereviewed.
In Part III, the genetics of personality in humans and animals is addressed with 10
selectedtopics.Personalityisinfluencedbybothgenesandenvironmentduringdevelopment.
Chapter15 explores genotype–environment correlation through a review of the behavioral
genetic literature on genetic and environmental influences on family relationships. It is very
importantthatbehavioralgeneticmodelsthatmeasurebehaviorsofinterestreflectthecontent
of the domains. Chapter 16 reviews behavioral genetic methods and models for personality
researchandtheory,andaddressessomemethodologicalissues.Chapter17addressestheroles
of specific genes, i.e., DRD4 and 5-HTTLPR genes, contributing to the multifaceted dimen-
sions of human personality, including altruism. Temperament, developing early in life and
possiblyformingthebasisforlaterpersonalityandpsychopathology,isexploredinChapter18
in which quantitative and molecular genetic findings, as well as endophenotypic approaches,
arediscussed.Sexualorientationisacontroversialissueinourcommunities.Agrowingbody
ofevidencesuggeststhatfamilialandgeneticfactorsaffecthumansexualorientation.Quan-
titativeandmoleculargeneticstudiesonsexualorientationarereviewedinChapter19.Three
chaptersintroduceanimalmodelsofpersonalityandaggression.Chapter20explorespersonal-
itydifferencesinratswidelyusedinlaboratoriesanddiscussesanatomicalandneurochemical
analysesinthisendeavor.Behavioralandgeneticresearchonoffensiveaggressioninmiceis
reviewedandcomparativegeneticstudiesofaggressionacrossspeciesareaddressedinChap-
ter 21. Chapter 22 discusses aggressive behavior in fruit flies from the ecological, genetic,
neurological, and evolutionary perspectives. Approximately 10% of the population are left-
handers.Thehistory,determination,andetiologyofhandednessareaddressedinChapter23.
Chapter24introducesexercisebehaviorasanewdisciplineinbehaviorgenetics.Alargepro-
portionofadultsintheworlddonotregularlyengageinexercise,althoughbenefitsofexercise
arewelldocumented.Geneticdeterminantsofvariabilityinexercisebehaviorarediscussed.
InPartIVthegeneticsofpsychopathologyisrepresentedwithnineselectedtopics.Some
psychiatric disorders like ADHD are only diagnosed by questionnaires or psychiatric inter-
views, rather than by clinical tests, and consequently the genetic studies of the disorders
can vary as a function of applied assessment methods and informants. Chapter 25 addresses
suchbehavioralmeasureissuesconcerningADHD.Depressionandanxietyhavetheirorigins
Preface ix
in childhood and arise from genetic and shared environmental effects. Epidemiological and
behavior genetic research on childhood depression and anxiety are discussed in Chapter 26.
Autism is familial and, thus, relatives of probands with autism are at high risk for depres-
sion, anxiety, and personality attributes. Chapter 27 reviews current findings in the genetic
epidemiology of autism and its etiological issues concerning the definition of autism pheno-
typesarediscussed.Twochaptersaddresssubstanceabusebehaviors,thatis,smoking,drugs,
and drinking. Smoking behaviors aggregate in families and in peer networks due to genetic
dispositions and common environmental influences. Chapter 28 reviews behavioral genetic
researchonsmokingbehaviorandnicotinedependence,usingFinnishsamplestudies,andits
comorbidities with other substance use, depression, and schizophrenia are discussed. Behav-
ioralandmoleculargeneticresearchontheuseandabuseofbothalcoholanddrugsisreviewed
inChapter29.Substanceabuseandsubstanceusedisorderco-occurwithconductdisorderand
antisocial behavior. Chapter 30 gives results of a meta-analysis of twin and adoption studies
examininggeneticandenvironmentalinfluencesonconductdisorderandantisocialbehavior.
Associationandlinkagestudiesforgenesinfluencingantisocialbehaviorarediscussed.Chap-
ter 31 explores the behavioral and molecular genetic approaches to the origins of two major
psychoses: schizophrenia andbipolarmooddisorder.Theconceptofendophenotypes,which
are measured intermediate traits or states between genotypes (genetic liability) and pheno-
types (disorders), is discussed. Chapter 32 discusses indepth longitudinal ”high-risk” studies
thatintendtoidentifyendophenotypesinthefirst-degreerelativesofschizophrenicprobands
andtoofferputativebehavioralpredictorsoffutureschizophreniaspectrumdisorders.Mouse
modelsofcognitivedysfunctionsinschizophreniaareexploredinChapter33wheretherole
of dopamine in attention and working memory is discussed. Finally, in Chapter 34, future
directionsforbehaviorgeneticsareaddressed.
Itisnotsurprisingthat,atthefinalpublicationdateofabookliketheHandbookofBehavior
Genetics,researchhasmovedon.In2008wesawthepublicationofgenomewideassociation
studies for Bipolar disorder (Ferreira et al., 2008), for five dimensions of personality (Ter-
racciano et al., 2008), ADHD (Neale et al., 2008) and major depressive disorder (Sullivan
etal.,2008).ManymoreGWAstudiesofcomplexbehavioralandpsychiatricphenotypesare
expected in the next few years. The landscape of behavior genetics has changed remarkably
in a relatively short space of time. The field continues to progress from comparatively small
studiestoconsortia-basedeffortsthattargettheinheritedcomponentsofcomplexdiseasesand
behaviorsandwhichtypicallyinvolvethousandsofparticipants(Orr&Chanock,2008).
References
Ferreira, M. A., O’Donovan, M. C., Meng, Y. A., Jones, I. R., Ruderfer, D. M., Jones, L., et al. (2008).
Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar
disorder.NatureGenetics,40,1056–1058.
Neale, B. M., Lasky-Su, J., Anney, R., Franke, B., Zhou, K., Maller, J. B., et al. (2008). Genome-wide
association scan of attention deficit hyperactivity disorder. American Journal of Medical Genetics B
NeuropsychiatricGenetics,147B,1337–1344.
Orr,N.,&Chanock,S.(2008).Commongeneticvariationandhumandisease.AdvancesinGenetics,62,1–32.
Sullivan, P. F., de Geus, E. J. C., Willemsen, G., James, M. R., Smit, J. H., Zandbelt, T., et al. (2008).
Genome-wideassociationformajordepressivedisorder:apossibleroleforthepresynapticproteinpiccolo.
MolecularPsychiatry,1–17.
Terracciano,A.,Sanna,S.,Uda,M.,Deiana,B.,Usala,G.,Busonero,F.,etal.(2008).Genome-wideassociation
scanforfivemajordepressionsofpersonality.MolecuarPsychiatry(inpress).
Acknowledgments
I gratefully acknowledge John DeFries, L. Erlenmeyer-Kimling, Irving Gottesman, Jenae
Neiderhiser,NancyPedersen,andAnitaThaparwhoprovidedusefulsuggestionsforshaping
thecontentsofthishandbook.Ioweagreatdebttomycolleagueswhosecontributionscreate
the substance of this exciting book. They have been very patient, and they have promptly
respondedandrevisedtheirchaptersinlightofreviewers’commentsandsuggestions.Ihope
that they are as pleased with the final result as I am. I also acknowledge Janice Stern, my
SpringerEditor,forherpatienceonthelongdelayofthehandbook,andIthankherstafffor
theirhelpinpublishingthisbook.
Iamespeciallygratefultothenumerouscolleagueswhocriticallyreviewedandimproved
theearlierversionsofthechapterswithveryvaluablecommentsandsuggestions.Thesepeople
include W. Anderson, J. Ando, R. Asarnow, H. Ble´aut, D. Blizzard, D. Boomsma, J. Bridle,
D. Bruck, T. Button, A. Caspi, S. Cherny, K. Christensen, J. Crabbe, W. Crusio, K. Deater-
Deckard, S. de Boer, C. DeCarli, J. DeFries, D. Dick, L. DiLalla, M. Dunne, L. Ehrman,
T.Eley,L. Erlenmeyer-Kimling,W.Etges,J.-F.Ferveur,G.Fisch,B.Fish,J.Flint,S.Gammie,
X.Ge,M.Geyer,N.Gillespie,J.Gleason,D.Gooding,I.Gottesman,T.Gould,P.A.Gowaty,
E.Grigorenko,N.Harlaar,J.Harris,N.Henderson,J. Hewitt,A.Holmes,J.Horn,G.Jackson,
J.-M.Jallon,K.Jang,J.Kaprio,W.Kates,J.Kuntsi,C.Kyriacou,R. Landgraf,J.-O.Larsson,
L. Leve, J. Loehlin, M. Luciano, H. Maes, T. Markow, L. Matzel, S. Maxson, R. McCrae,
S. McGuire, S. Medland, K. Morley, P. Mullineaux, J. Neiderhiser, R. Nelson, Y. Oguma,
D. Overstreet, D. Patterson, S. Petrill, A. Pike, R. Pillard, R. Plomin, M. Pogue-Geile,
G.Riedel,G.Rieger,F.Rijsdijk,J.Ringo,P.Roubertoux,M. Rutter,S.Smith,M.Stallings,
T.Suzuki,G.Swan,P.Szatmari,M.Thomis,R.Todd,T.Verson,E.Viding,J.Vink,I.Weiner,
H.Welzl,J.Wilson,D.Wolfer,andJ.Young.
xi
Contents
Introduction
1 HistoryofBehaviorGenetics ............................................. 3
JohnC.Loehlin
PartI QuantitativeMethodsandModels
2 BiometricalModelsinBehavioralGenetics ................................. 15
MichaelC.Neale
3 QTLMethodologyinBehaviorGenetics ................................... 35
StaceyS.Cherny
4 MultivariateGeneticAnalysis............................................. 47
DaniellePosthuma
5 ModelsofHumanBehavior:TalkingtotheAnimals......................... 61
GeneS.Fisch
PartII GeneticsofCognition
6 TwinStudiesofGeneralMentalAbility .................................... 81
NancyL.SegalandWendyJohnson
7 BehavioralGeneticInvestigationsofCognitiveAging........................101
DeborahFinkelandChandraA.Reynolds
8 TheGeneticsandEnvironmentsofReading:ABehavioralGeneticPerspective.113
SaraA.HartandStephenA.Petrill
9 Behavior-Genetic and Molecular Studies of Disorders of Speech
andLanguage:AnOverview..............................................125
ElenaL.Grigorenko
10 HumanBrainVolume:What’sintheGenes? ...............................137
JiskaS.Peper,MarcelP.Zwiers,DorretI.Boomsma,Rene´ S.Kahn,andHilleke
E.HulshoffPol
xiii