Figure 3. Eye Color Distribution Distribution of eye color among participants with different genotypes at rs12913832 (the top signal when performing GWAS using blue eye color in Genes for Good participants), a marker in HERC2 known to play a role in eye color determination.
The Genes for Good study uses social media to engage a large, diverse participant pool in genetics research and education. Health history and daily tracking surveys are administered through a Facebook application, and participants who complete a minimum number of surveys are mailed a saliva sample kit (''spit kit'') to collect DNA for genotyping. As of March 2019, we engaged >80,000 individuals, sent spit kits to >32,000 individuals who met minimum participation requirements, and collected >27,000 spit kits. Participants come from all 50 states and include a diversity of ancestral backgrounds. Rates of important chronic health indicators are consistent with those estimated for the general U.S. population using more traditional study designs. However, our sample is younger and contains a greater percentage of females than the general population. As one means of verifying data quality, we have replicated genome-wide association studies (GWASs) for exemplar traits, such as asthma, diabetes, body mass index (BMI), and pigmentation. The flexible framework of the web application makes it relatively simple to add new questionnaires and for other researchers to collaborate. We anticipate that the study sample will continue to grow and that future analyses may further capitalize on the strengths of the longitudinal data in combination with genetic information.
Genetic association studies routinely require many thousands of participants to achieve sufficient power, yet accumulation of large well-assessed samples is costly. We describe here an effort to efficiently measure cognitive ability and personality in an online genetic study, Genes for Good. We report on the first 21,550 participants with relevant phenotypic data, 7,458 of whom have been genotyped genome-wide. Measures of crystallized and fluid intelligence reflected a two-dimensional latent ability space, with items demonstrating adequate item-level characteristics. The Big Five Inventory questionnaire revealed the expected five-factor model of personality. Cognitive measures predicted educational attainment over and above personality characteristics, as expected. We found that a genome-wide polygenic score of educational attainment predicted educational level, accounting for 4%, 4%, and 2.7% of the variance in educational attainment, verbal reasoning, and spatial reasoning, respectively. In summary, the online cognitive measures in Genes for Good appear to perform adequately and demonstrate expected associations with personality, education, and an education-based polygenic score. Results indicate that online cognitive assessment is one avenue to accumulate large samples of individuals for genetic research of cognitive ability.
Objectives: It is crucial to examine how research on culture is fueled by assumptions, policies, and practices. The goal of this article is to promote meta-research on culture, the critical study of how investigations on culture are performed and interpreted, how scientific knowledge about culture is produced and transmitted, and the importance of scrutinizing assumptions, policies, and practices in a way that challenge views of minoritized groups as deviant and pathological. Method: We define key concepts, such as meta-research, culture, and meta-research on culture. Results: We approach cultural research as a system of people (researchers, participants), places (academic institutions, journals), practices (sampling, comparing groups), and power (legitimizing some groups as normative and others as deviant). We discuss assumptions, policies, and practices, and review landmark studies and methods. Conclusions: Meta-research on culture is an emerging field that can improve scientific understanding of human culture, guide efforts to elevate the perspectives of people who have historically experienced marginalization, inform institutional support and the creation of nurturing academic spaces, and guide the implementation of better research and training practices. Public Significance StatementIt is critical to study of how investigations on culture are performed and interpreted, how scientific knowledge about culture is produced and transmitted, and the importance of scrutinizing assumptions, policies, and practices in a way that challenge views of minoritized groups as deviant and pathological.
The Arizona Twin Project is an ongoing longitudinal study designed to elucidate gene–environment interplay underlying the development of risk and resilience to common mental and physical health problems during infancy, childhood and adolescence. Specificity of risk is carefully examined across mental and physical health and how these influences vary across socioeconomic and sociocultural environments. Participants are a sample of approximately 700 twins (31% Latinx) recruited from birth records in the state of Arizona, USA. Twins are 32% monozygotic twins, 36% same-sex dizygotic (DZ), 32% opposite-sex DZ, currently 10–11 years of age. Primary caregivers were interviewed on twins’ development and early physical and social environments when twins were 1, 2 and 5 years of age. In-depth objective measurement commenced in middle childhood, with in-person assessments at 8–11 years of age, with plans to continue to follow the sample across adolescence. Middle childhood measures focus on children’s physical and mental health, including diurnal cortisol, actigraphy-based measures of sleep and activity, cold pressor task assessing acute pain, and reaction time tasks assessing executive functioning. Preliminary findings illustrate that objective assessments of children’s health are highly heritable, but they do not always share genetic etiology with more commonly used subjective assessments. Exposure to early adversity moderates genetic influences on both executive functioning and health, with higher heritability typically seen under adverse conditions. Future directions include an examination of how pubertal stage affects genetic and environmental influences on diurnal cortisol, sleep, chronic pain, and mental health.
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