Dataset Information

Next Steps in Puberty Research: Broadening the Lens Toward Understudied Populations.

ABSTRACT: Decades of puberty research have yielded key scientific discoveries. Building on the field's rich history, we highlight four understudied populations: youth of color, boys, sexual minority youth, and gender minority youth. We explore why scientific study has been slow to evolve in these groups and propose paths forward for exciting new work. For ethnically racially diverse youth, we discuss the need to incorporate culture and context. For boys, we highlight methodological issues and challenges of mapping existing conceptual models onto boys. For sexual and gender minority youth, we discuss unique challenges during puberty and suggest ways to better capture their experiences. With an eye toward a new era, we make recommendations for next steps and underscore the importance of transdisciplinary research.

SUBMITTER: Deardorff J

PROVIDER: S-EPMC6827435 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature

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Publications

Next Steps in Puberty Research: Broadening the Lens Toward Understudied Populations.

Deardorff Julianna J Hoyt Lindsay T LT Carter Rona R Shirtcliff Elizabeth A EA

Journal of research on adolescence : the official journal of the Society for Research on Adolescence 20190301 1

Decades of puberty research have yielded key scientific discoveries. Building on the field's rich history, we highlight four understudied populations: youth of color, boys, sexual minority youth, and gender minority youth. We explore why scientific study has been slow to evolve in these groups and propose paths forward for exciting new work. For ethnically racially diverse youth, we discuss the need to incorporate culture and context. For boys, we highlight methodological issues and challenges o ...[more]

PMID: 30869847

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Project description:The majority of genome-wide association studies have been conducted using samples with a broadly European genetic background. As a field, we acknowledge this limitation and the need to increase the diversity of populations studied. A major challenge when designing and conducting such studies is to assimilate large samples sizes so that we attain enough statistical power to detect variants associated with disease, particularly when trying to identify variants with low and rare minor allele frequencies. In this review, we aimed to illustrate the benefits to genetic characterization of Alzheimer's disease, in researching currently understudied populations. This is important for both fair representation of world populations and the translatability of findings. To that end, we conducted a literature search to understand the contributions of studies, on different populations, to Alzheimer's disease genetics. Using both PubMed and Alzforum Mutation Database, we systematically quantified the number of studies reporting variants in known disease-causing genes, in a worldwide manner, and discuss the contributions of research in understudied populations to the identification of novel genetic factors in this disease. Additionally, we compared the effects of genome-wide significant single nucleotide polymorphisms across populations by focusing on loci that show different association profiles between populations (a key example being APOE). Reports of variants in APP, PSEN1 and PSEN2 can initially determine whether patients from a country have been studied for Alzheimer's disease genetics. Most genome-wide significant associations in non-Hispanic white genome-wide association studies do not reach genome-wide significance in such studies of other populations, with some suggesting an opposite effect direction; this is likely due to much smaller sample sizes attained. There are, however, genome-wide significant associations first identified in understudied populations which have yet to be replicated. Familial studies in understudied populations have identified rare, high effect variants, which have been replicated in other populations. This work functions to both highlight how understudied populations have furthered our understanding of Alzheimer's disease genetics, and to help us gauge our progress in understanding the genetic architecture of this disease in all populations.

Dataset Information

Next Steps in Puberty Research: Broadening the Lens Toward Understudied Populations.

Publications

Next Steps in Puberty Research: Broadening the Lens Toward Understudied Populations.

Similar Datasets

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