BEGIN:VCALENDAR VERSION:2.0 PRODID:-//talks.cam.ac.uk//v3//EN BEGIN:VTIMEZONE TZID:Europe/London BEGIN:DAYLIGHT TZOFFSETFROM:+0000 TZOFFSETTO:+0100 TZNAME:BST DTSTART:19700329T010000 RRULE:FREQ=YEARLY;BYMONTH=3;BYDAY=-1SU END:DAYLIGHT BEGIN:STANDARD TZOFFSETFROM:+0100 TZOFFSETTO:+0000 TZNAME:GMT DTSTART:19701025T020000 RRULE:FREQ=YEARLY;BYMONTH=10;BYDAY=-1SU END:STANDARD END:VTIMEZONE BEGIN:VEVENT CATEGORIES:Twentieth Century Think Tank SUMMARY:How wide and how tall? Genome Wide Association Stu dies in debate\, from height to educational attain ment and back - Ulrika Björkstén (Clare Hall\; Sve riges Radio) DTSTART;TZID=Europe/London:20190509T130000 DTEND;TZID=Europe/London:20190509T140000 UID:TALK123088AThttp://talks.cam.ac.uk URL:http://talks.cam.ac.uk/talk/index/123088 DESCRIPTION:In April 2018 a study was published that claimed t o have found evolutionary differences between huma n populations on different continents\, with a lar ger selection in some populations for genes which could be linked to educational attainment (Racimo et al\, _Genetics_\, 208\, 1565–1584). A few month s later the same research group presented new resu lts calling to question the very foundations of th eir own methodology (Jeremy Berg et al\, BioRxiv\, 23 June 2018).\n\nIn this paper based on a chapte r in progress I trace how claims about evolutionar y differences between human populations in the sel ection of complex traits were constructed from 201 0 to 2018\, starting with the publication of GWAS- data linked to height by the so-called GIANT-conso rtium in 2010 (_Nature_\, 467\, 832–838). This art icle was considered a breakthrough in GWA-studies of complex human traits\, finding hundreds of gene tic markers correlating to height differences betw een individuals. Although the authors carefully no ted that these genetic markers could not be used f or predictive purposes\, but should rather be rega rded as indicators of genetic loci suitable for fu rther exploration of functional genetic links to h eight\, this set of markers was subsequently used in a study investigating evolutionary explanations to height differences between different European populations (_Nature Genetics_\, 44\, 1015–1019). The article published in 2012 was hence one of the first to claim to have found active selection for a complex human trait which differed between popu lations.\n\nAfter these two initial articles were published\, several years of similar research foll owed on ever larger datasets\, as the GIANT consor tium grew. With the increasing power of new datase ts\, including genetic data from hundreds of thous ands of individuals\, the number of genetic marker s that could be statistically linked to height dif ferences between individuals also grew. These resu lts were in their turn used as starting points for new studies of the evolutionary background to dif ferences in height between different populations\, notably between southern and northern Europeans. Simultaneously\, the success of the 2010-study had sparked a whole new field of research applying GW AS to an increasing number of human traits\, inclu ding one as complex and highly culturally dependen t as 'educational attainment'. In 2018 the field h ence culminated in a study claiming to have found an evolutionary background to differences between human populations in the frequency of genetic mark ers that could be linked to educational attainment . The political implications of this claim sparked a controversy within the population genetics comm unity (Novembre et al\, _Genetics_\, 208\, 1351–13 55) which led to a reconsideration of earlier resu lts. Comparing the GWAS-results from one data set (GIANT) to another (UK Biobank) researchers found that the statistical link between certain genetic markers and height all but disappeared. The explan ation given was that the GIANT-dataset suffered fr om unknown population stratification. This finding brought to question the methodology as such\, sin ce it uncovered a hitherto underestimated sensitiv ity to confounding factors.\n\nInterestingly\, the seminal article of the field\, published in 2010\ , included a clear warning of using GWAS-results f or prediction. Instead it stated that the genetic markers found should only be used as a starting po int for further investigations of genetic function ality. This story hence unfolds as a case study of how scientific results take on new meanings as th ey leave their original setting and are interprete d by other researchers and implemented as starting points for new studies.\n\nAnother aspect of this case study is that the original datasets used had a very heavy bias of northern European genetic da ta. Recent studies have shown that genetic markers found by GWAS in one population cannot necessaril y be transferred in a meaningful way to another po pulation. This story hence also serves as a very c oncrete illustration of how a Eurocentric approach may skew scientific results. LOCATION:Seminar Room 2\, Department of History and Philoso phy of Science CONTACT:Richard Staley END:VEVENT END:VCALENDAR