Genome studies must account for history

Richardson, Sarah S.; Borsa, Alexander; Boulicault, Marion; Galka, Jonathan; Ghosh, Nayanika; Gompers, Annika; Noll, Nicole E.; Perret, Meg; Reiches, Meredith W.; Sandoval, Juana C. Becerra; Shattuck‐Heidorn, Heather; Vitti, Joseph J.; Weir, Brianna; Zhao, Helen

doi:10.1126/science.aaz6594

Cited by 6 publications

(4 citation statements)

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“…Furthermore, steps should be taken toward a genetics education and research model that strives to be more transdisciplinary to aid in increased awareness and skills among geneticists to tackle these issues. Along the same lines, we echo the call for “standards for research design that acknowledge the historical, political, and social context of phenotypes under study” ( Richardson et al 2019 ).…”

Section: Discussionmentioning

confidence: 74%

Populations, Traits, and Their Spatial Structure in Humans

Sohail

Izarraras-Gomez

Vecchyo

2021

Genome Biology and Evolution

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The spatial distribution of genetic variants is jointly determined by geography, past demographic processes, natural selection and its interplay with environmental variation. A fraction of these genetic variants are “causal alleles” that affect the manifestation of a complex trait. The effect exerted by these causal alleles on complex traits can be independent or dependent on the environment. Understanding the evolutionary processes that shape the spatial structure of causal alleles is key to comprehend the spatial distribution of complex traits. Natural selection, past population size changes, range expansions, consanguinity, assortative mating, archaic introgression, admixture, and the environment can alter the frequencies, effect sizes and heterozygosities of causal alleles. This provides a genetic axis along which complex traits can vary. However, complex traits also vary along biogeographical and sociocultural axes which are often correlated with genetic axes in complex ways. The purpose of this review is to consider these genetic and environmental axes in concert, and examine the ways they can help us decipher the variation in complex traits that is visible in humans today. This initiative necessarily implies a discussion of populations, traits, the ability to infer and interpret “genetic” components of complex traits, and how these have been impacted by adaptive events. In this review we provide a history-aware discussion on these topics using both the recent and more distant past of our academic discipline and its relevant contexts.

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Section: Discussionmentioning

confidence: 74%

Populations, Traits, and Their Spatial Structure in Humans

Sohail

Izarraras-Gomez

Vecchyo

2021

Genome Biology and Evolution

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“…According to previous research, we can cautiously conclude that there exists a substantial number of genes that impact human sexuality, a considerable proportion of which remain undiscovered. Recent advancements in human genome analysis have made it feasible to dissect the molecular basis of complex traits, such as sexual orientation, even if these traits are probably influenced by multiple genes and/or shaped by environmental or experiential factors, or, more probably, by some complex, non-linear combinations of these ( McGuffin et al, 2001 ; Mustanski et al, 2002 ; Price, 2018 ; Richardson et al, 2019 ; McGuire et al, 2021 ). For instance, GWAS is a whole genome scanning method that simultaneously analyzes the relationship between thousands of SNPs across the entire genome and traits or diseases.…”

Section: Discussionmentioning

confidence: 99%

Probing the genomic landscape of human sexuality: a critical systematic review of the literature

Bragazzi,

Converti,

Crapanzano

et al. 2023

Front. Genet.

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Whether human sexuality is the result of nature or nurture (or their complex interplay) represents a hot, often ideologically driven, and highly polarized debate with political and social ramifications, and with varying, conflicting findings reported in the literature. A number of heritability and behavioral genetics studies, including pedigree-based investigations, have hypothesized inheritance patterns of human sexual behaviors. On the other hand, in most twin, adoption, and nuclear family studies, it was not possible to disentangle between underlying genetic and shared environmental sources. Furthermore, these studies were not able to estimate the precise extent of genetic loading and to shed light both on the number and nature of the putative inherited factors, which remained largely unknown. Molecular genetic studies offer an unprecedented opportunity to overcome these drawbacks, by dissecting the molecular basis of human sexuality and allowing a better understanding of its biological roots if any. However, there exists no systematic review of the molecular genetics of human sexuality. Therefore, we undertook this critical systematic review and appraisal of the literature, with the ambitious aims of filling in these gaps of knowledge, especially from the methodological standpoint, and providing guidance to future studies. Sixteen studies were finally retained and overviewed in the present systematic review study. Seven studies were linkage studies, four studies utilized the candidate gene approach, and five studies were GWAS investigations. Limitations of these studies and implications for further research are discussed.

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“…The study itself starts from the idea that genetic markers that are associated with same-sex sexual behaviour could have an evolutionary advantage and ends in saying the behaviour is complex. Critics claim the "approach [of the study] implies that it is acceptable to issue claims of genetic drivers of behaviours and then lay the burden of proof on social scientists to perform post-hoc socio-cultural analysis" (Richardson et al 2019(Richardson et al , p. 1461.…”

Section: Datafication Of Scientific Knowledge Productionmentioning

confidence: 99%

“…Critics, however, note that the context of data collected from the individuals may have influence on the findings; for instance, past developments (i.e. decriminalization of homosexuality, the HIV/AIDS epidemic, and legalization of same-sex marriage) are relevant to understand the UK Biobank's donor profile and if the GWAS were to be redone according to the birth year of the individuals, different findings could have come out of the study (Richardson et al 2019(Richardson et al , p. 1461.…”

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confidence: 99%

Moving back to the future of big data-driven research: reflecting on the social in genomics

Goisauf

Akyüz

Martin

2020

Humanit Soc Sci Commun

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With the advance of genomics, specific individual conditions have received increased attention in the generation of scientific knowledge. This spans the extremes of the aim of curing genetic diseases and identifying the biological basis of social behaviour. In this development, the ways knowledge is produced have gained significant relevance, as the dataintensive search for biology/sociality associations has repercussions on doing social research and on theory. This article argues that an in-depth discussion and critical reflection on the social configurations that are inscribed in, and reproduced by genomic data-intensive research is urgently needed. This is illustrated by debating a recent case: a large-scale genome-wide association study (GWAS) on sexual orientation that suggested partial genetic basis for same-sex sexual behaviour (Ganna et al. 2019b). This case is analysed from three angles: (1) the demonstration of how, in the process of genomics research, societal relations, understandings and categorizations are used and inscribed into social phenomena and outcomes; (2) the exploration of the ways that the (big) data-driven research is constituted by increasingly moving away from theory and methodological generation of theoretical concepts that foster the understanding of societal contexts and relations (Kitchin 2014a). Big Data Soc and (3) the demonstration of how the assumption of 'free from theory' in this case does not mean free of choices made, which are themselves restricted by data that are available. In questioning how key sociological categories are incorporated in a wider scientific debate on genetic conditions and knowledge production, the article shows how underlying classification and categorizations, which are inherently social in their production, can have wide ranging implications. The conclusion cautions against the marginalization of social science in the wake of developments in data-driven research that neglect social theory, established methodology and the contextual relevance of the social environment.

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Genome studies must account for history

Cited by 6 publications

References 6 publications

Populations, Traits, and Their Spatial Structure in Humans

Populations, Traits, and Their Spatial Structure in Humans

Probing the genomic landscape of human sexuality: a critical systematic review of the literature

Moving back to the future of big data-driven research: reflecting on the social in genomics

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