Incorporating genetics into your studies: a guide for social scientists.
- Authors
- Dick, Danielle M; Latendresse, Shawn J; Riley, Brien
- Year
- 2011
- Journal
- Frontiers in psychiatry
- PMID
- 21629842
- DOI
- 10.3389/fpsyt.2011.00017
- PMCID
- PMC3098715
There has been a surge of interest in recent years in incorporating genetic components into on-going longitudinal, developmental studies and related psychological studies. While this represents an exciting new direction in developmental science, much of the research on genetic topics in developmental science does not reflect the most current practice in genetics. This is likely due, in part, to the rapidly changing landscape of the field of genetics, and the difficulty this presents for developmental scientists who are trying to learn this new area. In this review, we present an overview of the paradigm shifts that have occurred in genetics and we introduce the reader to basic genetic methodologies. We present our view of the current stage of research ongoing at the intersection of genetics and social science, and we provide recommendations for how we could do better. We also address a number of issues that social scientists face as they integrate genetics into their projects, including choice of a study design (candidate gene versus genome-wide association versus sequencing), different methods of DNA collection, and special considerations involved in the analysis of genotypic data. Through this review, we hope to equip social scientists with a deeper understanding of the many considerations that go into genetics research, in an effort to foster more meaningful cross-disciplinary initiatives.
Allele frequency differences between cases and controls as defined by the liability threshold model. The white circles refer to the null allele, and the red circles refer to the risk (‘B’) allele. The cases are above the threshold for disease on the liability distribution and are more likely to carry the risk allele than the controls.
LLM interpretation
This diagram illustrates the liability threshold model for disease, featuring a red normal distribution curve plotted against a "Disease liability" x-axis. A vertical threshold line separates "unaffected" controls from "affected" cases, with the cases showing a higher frequency of the risk 'B' allele (50%) compared to the controls (20%). The alleles are visually represented by red circles for the risk allele and white circles for the null allele.
The preservation of linkage disequilibrium (LD) through mutation and subsequent recombination in the human genome. At the time the mutation occurs it is in LD with the genetic background of the chromosome. Recombination changes the genetic background as variation is introduced until only the DNA sequence very near the mutation remains in LD.
LLM interpretation
This diagram illustrates the process of linkage disequilibrium (LD) decay over time in a hypothetical human chromosome. It shows a mutation occurring on a red ancestral chromosome, followed by successive rounds of recombination over 20 and 50 generations. The visualization demonstrates that as recombination introduces genetic material from other ancestral chromosomes (represented by different colors), the region of LD surrounding the mutation progressively shrinks.
Screenshot from Haploview (Barrett et al., 2005) showing the linkage disequilibrium structure surrounding the DRD2 gene.
LLM interpretation
This figure is a Haploview linkage disequilibrium (LD) plot showing the genetic structure surrounding the *DRD2* gene. The top panel displays the genomic coordinates, genotyped SNPs, and associated Entrez genes, including *DRD2* and *NCAM1*. The bottom triangular heat map uses a red-to-white color scale to represent the strength of LD between pairs of SNPs, with dense red blocks indicating high LD regions.
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| Citation | PMID | DOI | Status |
|---|---|---|---|
| BarrettJ. C.FryB.MallerJ.DalyM. J. (2005). Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263–26510.1093/bioinformatics/bth45715297300 | — | — | — |
| ButtonT. M.CorleyR. P.RheeS. H.HewittJ. K.YoungS. E.StallingsM. C. (2007). Delinquent peer affiliation and conduct problems: a twin study. J. Abnorm. Psychol. 116, 554–5641769671110.1037/0021-843X.116.3.554 | — | — | — |
| DickD. M.BierutL. (2006). The genetics of alcohol dependence. Curr. Psychiatr. Rep. 8, 151–15710.1007/s11920-006-0015-116539893 | — | — | — |
| DickD. M.LatendresseS. J.LansfordJ. E.BuddeJ.GoateA.DodgeK. A.PettitG. S.BatesJ. E. (2009). The role of GABRA2 in trajectories of externalizing behavior across development and evidence of moderation by parental monitoring. Arch. Gen. Psychiatry 66, 649–6571948763010.1001/archgenpsychiatry.2009.48PMC2750080 | — | — | — |
| DickD. M.PaganJ. L.VikenR.PurcellS.KaprioJ.PulkkinenL.RoseR. J. (2007a). Changing environmental influences on substance use across development. Twin Res. Hum. Genet. 10, 315–32610.1375/twin.10.2.31517564520PMC1905859 | — | — | — |
| DickD. M.VikenR.PurcellS.KaprioJ.PulkkinenL.RoseR. J. (2007b). Parental monitoring moderates the importance of genetic and environmental influences on adolescent smoking. J. Abnorm. Psychol. 116, 213–21810.1037/0021-843X.116.1.21317324032PMC1807367 | — | — | — |
| DickD. M.WangJ. C.PlunkettJ.AlievF.HinrichsA.BertelsenS.BuddeJ. P.GoldsteinE. L.KaplanD.EdenbergH. J.NurnbergerJ.HesselbrockV.SchuckitM.KupermanS.TischfieldJ.PorjeszB.BegleiterH.BierutL. J.GoateA. (2007c), Family-based association analyses of alcohol dependence phenotypes across DRD2 and neighboring gene ANKK1. Alcohol Clin.Exp. Res. 31, 1645–165310.1111/j.1530-0277.2007.00470.x17850642 | — | — | — |
| EdenbergH. J.DickD. M.XueiX.TianH.AlmasyL.BauerL. O.CroweR. R.GoateA.HesselbrockV.JonesK.KwonJ.LiT. K.NurnbergerJ. I.Jr.O'ConnorS. J.ReichT.RiceJ.SchuckitM. A.PorjeszB.ForoudT.BegleiterH. (2004). Variations in GABRA2, encoding the α2 subunit of the GABA-A receptor are associated with alcohol dependence and with brain oscillations. Am. J. Hum. Genet. 74, 705–7141502469010.1086/383283PMC1181946 | — | — | — |
| EnochM. A. (2008). The role of GABA(A) receptors in the development of alcoholism. Pharmacol. Biochem. Behav. 90, 95–1041844005710.1016/j.pbb.2008.03.007PMC2577853 | — | — | — |
| GabrielS. B.SchaffnerS. F.NguyenH.MooreJ. M.RoyJ.BlumenstielB.HigginsJ.DeFeliceM.LochnerA.FaggartM.Liu-CorderoS. N.RotimiC.AdeyemoA.CooperR.WardR.LanderE. S.DalyM. J.AltshulerD. (2002). The structure of haplotype blocks in the human genome. Science 296, 2225–222910.1126/science.106942412029063 | — | — | — |
| HardenK. P.HillJ. E.TurkheimerE.EmeryR. E. (2008). Gene-environment correlation and interaction in peer effects on adolescent alcohol and tobacco use. Behav. Genet. 38, 339–3471836847410.1007/s10519-008-9202-7PMC2898558 | — | — | — |
| HedrickP.KumarS. (2001). Mutation and linkage disequilibrium in human mtDNA. Eur. J. Human Genet. 9, 969–9721184018610.1038/sj.ejhg.5200735 | — | — | — |
| JordeL. B. (1995). Linkage disequilibrium as gene-mapping tool. Am. J. Hum. Genet. 56, 11–147825565PMC1801317 | — | — | — |
| KesslerR. C.ChuiW. T.DemlerO.WaltersE. E. (2005). Prevalence, severity and comorbity of 12-month DSMIV disorders in the national comorbidity survey replication. Arch. Gen. Psychiatry 62, 617–6271593983910.1001/archpsyc.62.6.617PMC2847357 | — | — | — |
| LatendresseS. J.BatesJ. E.GoodnightJ. A.LansfordJ. E.BuddeJ. P.GoateA.DodgeK. A.PettitG. S.DickD. M. (in press). Differential susceptibility to adolescent externalizing trajectories: examining the interplay between CHRM2 and peer group antisocial behavior. Child Dev.10.1111/j.1467-8624.2011.01640.xPMC321824521883161 | — | — | — |
| LuoX.KranzlerH. R.ZuoL.WangS.BlumbergH. P.GelernterJ. (2005). CHRM2 gene predisposes to alcohol dependence, drug dependence, and affective disorders: results from an extended case-control structured association study. Hum. Mol. Genet. 14, 2421–24321600031610.1093/hmg/ddi244 | — | — | — |
| ManolioT. A.BrooksL. D.CollinsF. S. (2008). A HapMap harvest of insights into the genetics of common disease. J. Clin. Invest. 118, 1590–16051845198810.1172/JCI34772PMC2336881 | — | — | — |
| ManolioT. A.CollinsF. S.CoxN. J.GoldsteinD. B.HindorffL. A.HunterD. J.McCarthyM. I.RamosE. M.CardonL. R.ChakravartiA.ChoJ. H.GuttmacherA. E.KongA.KruglyakL.MardisE.RotimiC. N.SlatkinM.ValleD.WhittemoreA. S.BoehnkeM.ClarkA. G.EichlerE. E.GibsonG.HainesJ. L.MackayT. F.McCarrollS. A.VisscherP. M. (2009). Finding the missing heritability of complex diseases. Nature 461, 747–7531981266610.1038/nature08494PMC2831613 | — | — | — |
| McCarthyM. I.AbecasisG. R.CardonL. R.GoldsteinD. B.LittleJ.IoannidisJ. P.HirschhornJ. N. (2008). Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat. Rev. Genet. 9, 356–3691839841810.1038/nrg2344 | — | — | — |
| McClellanJ.KingM. C. (2010). Genetic heterogeneity in human disease. Cell 141, 210–2172040331510.1016/j.cell.2010.03.032 | — | — | — |
| MeaneyM. J. (2010). Epigenetics and the biological definition of gene x environment interactions. Child Dev. 81, 41–792033165410.1111/j.1467-8624.2009.01381.x | — | — | — |
| NealeB. M.FerreiraM. A. R.MedlandS. E.PosthumaD. (2008). Statistical Genetics: Gene Mapping Through Linkage and Association. New York: Taylor & Francis | — | — | — |
| NobleE. P. (2000). The DRD2 gene in psychiatric and neurological disorders and its phenotypes. Pharmacogenetics 1, 309–33310.1517/14622416.1.3.30911256581 | — | — | — |
| NyholtD. R. (2004). A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am. J. Hum. Genet. 74, 765–7691499742010.1086/383251PMC1181954 | — | — | — |
| SlutskeW. S.HeathA. C.DinwiddleS. H.MaddenP. A. F.BucholzK. K.DunneM. P.StathamD. J.MartinN. G. (1998). Common genetic risk factors for conduct disorder and alcohol dependence. J. Abnorm. Psychol. 107, 363–374971557210.1037//0021-843x.107.3.363 | — | — | — |
| SpeliotesE. K.WillerC. J.BerndtS. I.MondaK. L.ThorleifssonG.JacksonA. U.AllenH. L.LindgrenC. M.LuanJ.MägiR.RandallJ. C.VedantamS.WinklerT. W.QiL.WorkalemahuT.HeidI. M.SteinthorsdottirV.StringhamH. M.WeedonM. N.WheelerE.WoodA. R.FerreiraT.WeyantR. J.SegrèA. V.EstradaK.LiangL.NemeshJ.ParkJ. H.GustafssonS.KilpeläinenT. O.YangJ.Bouatia-NajiN.EskoT.FeitosaM. F.KutalikZ.ManginoM.RaychaudhuriS.ScheragA.SmithA. V.WelchR.ZhaoJ. H.AbenK. K.AbsherD. M.AminN.DixonA. L.FisherE.GlazerN. L.GoddardM. E.Heard-CostaN. L.HoeselV.HottengaJ. J.JohanssonA.JohnsonT.KetkarS.LaminaC.LiS.MoffattM. F.MyersR. H.NarisuN.PerryJ. R.PetersM. J.PreussM.RipattiS.RivadeneiraF.SandholtC.ScottL. J.TimpsonN. J.TyrerJ. P.van WingerdenS.WatanabeR. M.WhiteC. C.WiklundF.BarlassinaC.ChasmanD. I.CooperM. N.JanssonJ. O.LawrenceR. W.PellikkaN.ProkopenkoI.ShiJ.ThieringE.AlavereH.AlibrandiM. T.AlmgrenP.ArnoldA. M.AspelundT.AtwoodL. D.BalkauB.BalmforthA. J.BennettA. J.Ben-ShlomoY.BergmanR. N.BergmannS.BiebermannH.BlakemoreA. I.BoesT.BonnycastleL. L.BornsteinS. R.BrownM. J.BuchananT. A.BusoneroF.CampbellH.CappuccioF. P.Cavalcanti-ProençaC.ChenY. D.ChenC. M.ChinesP. S.ClarkeR.CoinL.ConnellJ.DayI. N.HeijerM.DuanJ.EbrahimS.ElliottP.ElosuaR.EiriksdottirG.ErdosM. R.ErikssonJ. G.FacherisM. F.FelixS. B.Fischer-PosovszkyP.FolsomA. R.FriedrichN.FreimerN. B.FuM.GagetS.GejmanP. V.GeusE. J.GiegerC.GjesingA. P.GoelA.GoyetteP.GrallertH.GrässlerJ.GreenawaltD. M.GrovesC. J.GudnasonV.GuiducciC.HartikainenA. L.HassanaliN.HallA. S.HavulinnaA. S.HaywardC.HeathA. C.HengstenbergC.HicksA. A.HinneyA.HofmanA.HomuthG.HuiJ.IglW.IribarrenC.IsomaaB.JacobsK. B.JarickI.JewellE.JohnU.JørgensenT.JousilahtiP.JulaA.KaakinenM.KajantieE.KaplanL. M.KathiresanS.KettunenJ.KinnunenL.KnowlesJ. W.KolcicI.KönigI. R.KoskinenS.KovacsP.KuusistoJ.KraftP.KvaløyK.LaitinenJ.LantieriO.LanzaniC.LaunerL. J.LecoeurC.LehtimäkiT.LettreG.LiuJ.LokkiM. L.LorentzonM.LubenR. N.LudwigB. M. A. G. I. C.ManuntaP.MarekD.MarreM.MartinN. G.McArdleW. L.McCarthyA.McKnightB.MeitingerT.MelanderO.MeyreD.MidthjellK.MontgomeryG. W.MorkenM. A.MorrisA. P.MulicR.NgwaJ. S.NelisM.NevilleM. J.NyholtD. R.O'DonnellC. J.O'RahillyS.OngK. K.OostraB.ParéG.ParkerA. N.PerolaM.PichlerI.PietiläinenK. H.PlatouC. G.PolasekO.PoutaA.RafeltS.RaitakariO.RaynerN. W.RidderstråleM.RiefW.RuokonenA.RobertsonN. R.RzehakP.SalomaaV.SandersA. R.SandhuM. S.SannaS.SaramiesJ.SavolainenM. J.ScheragS.SchipfS.SchreiberS.SchunkertH.SilanderK.SinisaloJ.SiscovickD. S.SmitJ. H.SoranzoN.SovioU.StephensJ.SurakkaI.SwiftA. J.TammesooM. L.TardifJ. C.Teder-LavingM.TeslovichT. M.ThompsonJ. R.ThomsonB.TönjesA.TuomiT.van MeursJ. B.van OmmenG. J.VatinV.ViikariJ.Visvikis-SiestS.VitartV.VogelC. I.VoightB. F.WaiteL. L.WallaschofskiH.WaltersG. B.WidenE.WiegandS.WildS. H.WillemsenG.WitteD. R.WittemanJ. C.XuJ.ZhangQ.ZgagaL.ZieglerA.ZittingP.BeilbyJ. P.FarooqiI. S.HebebrandJ.HuikuriH. V.JamesA. L.KähönenM.LevinsonD. F.MacciardiF.NieminenM. S.OhlssonC.PalmerL. J.RidkerP. M.StumvollM.BeckmannJ. S.BoeingH.BoerwinkleE.BoomsmaD. I.CaulfieldM. J.ChanockS. J.CollinsF. S.CupplesL. A.SmithG. D.ErdmannJ.FroguelP.GrönbergH.GyllenstenU.HallP.HansenT.HarrisT. B.HattersleyA. T.HayesR. B.HeinrichJ.HuF. B.HveemK.IlligT.JarvelinM. R.KaprioJ.KarpeF.KhawK. T.KiemeneyL. A.KrudeH.LaaksoM.LawlorD. A.MetspaluA.MunroeP. B.OuwehandW. H.PedersenO.PenninxB. W.PetersA.PramstallerP. P.QuertermousT.ReinehrT.RissanenA.RudanI.SamaniN. J.SchwarzP. E.ShuldinerA. R.SpectorT. D.TuomilehtoJ.UdaM.UitterlindenA.ValleT. T.WabitschM.WaeberG.WarehamN. J.WatkinsH.Procardis, ConsortiumWilsonJ. F.WrightA. F.ZillikensM. C.ChatterjeeN.McCarrollS. A.PurcellS.SchadtE. E.VisscherP. M.AssimesT. L.BoreckiI. B.DeloukasP.FoxC. S.GroopL. C.HarituniansT.HunterD. J.KaplanR. C.MohlkeK. L.O'ConnellJ. R.PeltonenL.SchlessingerD.StrachanD. P.van DuijnC. M.WichmannH. E.FraylingT. M.ThorsteinsdottirU.AbecasisG. R.BarrosoI.BoehnkeM.StefanssonK.NorthK. E.McCarthyM. I.HirschhornJ. N.IngelssonE.LoosR. J. (2010). Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat. Genet. 42, 937–9482093563010.1038/ng.686PMC3014648 | — | — | — |
| van den OordE. J. (2007). Controlling false discoveries in genetic studies. Am. J. Med. Genet. B Neuropsychiatr. Genet. 147B, 637–6441809230710.1002/ajmg.b.30650 | — | — | — |
| WangJ. C.HinrichsA. L.StockH.BuddeJ.AllenR.BertelsenS.KwonJ. M.WuW.DickD. M.RiceJ.JonesK.NurnbergerJ. I.Jr.TischfieldJ.PorjeszB.EdenbergH. J.HesselbrockV.CroweR.SchuckitM.BegleiterH.ReichT.GoateA. M.BierutL. J. (2004). Evidence of common and specific genetic effects: association of the muscarinic acetylcholine receptor M2 (CHRM2) gene with alcohol dependence and major depressive syndrome. Human Mol. Genet. 13, 1903–19111522918610.1093/hmg/ddh194 | — | — | — |
| ZhangT. Y.MeaneyM. J. (2010). Epigenetics and the environmental regulation of the genome and its function. Annu. Rev. Psychol. 61, 433–43910.1146/annurev.psych.60.110707.16362519958180 | — | — | — |
| ZieglerA.KönigI. R.ThompsonJ. R. (2008). Biostatistical aspects of genome-wide association studies. Biom. J. 50, 8–281821769810.1002/bimj.200710398 | — | — | — |
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