The use of race, ethnicity and ancestry in human genetic research

Ali‐Khan, Sarah E.; Krakowski, Tomasz; Tahir, Rabia; Daar, Abdallah S.

doi:10.1007/s11568-011-9154-5

Cited by 45 publications

(42 citation statements)

References 88 publications

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“…They were used to infer European, African and Amerindian ancestry from ethnically diverse populations from United States (US) cities. It is important to clarify that we understand the term "ethnicity" as the social identity of a group or population with few or no relationship with its actual genetic background (Ali-Khan et al, 2011). Brazilian populations were also founded by admixture from these three ancestral populations.…”

Section: Introductionmentioning

confidence: 99%

A rapid screening of ancestry for genetic association studies in an admixed population from Pernambuco, Brazil

Coelho¹,

Moura²,

Cavalcanti³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Genetic association studies determine how genes influence traits. However, non-detected population substructure may bias the analysis, resulting in spurious results. One method to detect substructure is to genotype ancestry informative markers (AIMs) besides the candidate variants, quantifying how much ancestral populations contribute to the samples' genetic background. The present study aimed to use a minimum quantity of markers, while retaining full potential to estimate ancestries. We tested the feasibility of a subset of the 12 most informative markers from a previously established study to estimate influence from three ancestral populations: European, African and Amerindian. The results showed that in a sample with a diverse ethnicity (N = 822) derived 2877 Screening of ancestry for genetic association studies ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 14 (1): 2876-2884 (2015) from 1000 Genomes database, the 12 AIMs had the same capacity to estimate ancestries when compared to the original set of 128 AIMs, since estimates from the two panels were closely correlated. Thus, these 12 SNPs were used to estimate ancestry in a new sample (N = 192) from an admixed population in Recife, Northeast Brazil. The ancestry estimates from Recife subjects were in accordance with previous studies, showing that Northeastern Brazilian populations show great influence from European ancestry (59.7%), followed by African (23.0%) and Amerindian (17.3%) ancestries. Ethnicity selfclassification according to skin-color was confirmed to be a poor indicator of population substructure in Brazilians, since ancestry estimates overlapped between classifications. Thus, our streamlined panel of 12 markers may substitute panels with more markers, while retaining the capacity to control for population substructure and admixture, thereby reducing sample processing time.

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Section: Introductionmentioning

confidence: 99%

A rapid screening of ancestry for genetic association studies in an admixed population from Pernambuco, Brazil

Coelho¹,

Moura²,

Cavalcanti³

et al. 2015

Genet. Mol. Res.

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“…A full discussion of the methodological and ethical issues involved in using racial categories in genetic research is beyond the scope of this paper; the reader is referred to a number of excellent papers on this topic [2]. A multidisciplinary working group previously convened to address this issue emphasized that each individual has characteristics that could form the basis for his or her membership in any number of populations [3].…”

Section: Introductionmentioning

confidence: 99%

Genetics of Obesity and Type 2 Diabetes in African Americans

McCormack

Grant

2013

Journal of Obesity

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Obesity and type 2 diabetes are highly prevalent and lead to significant morbidity and mortality. In the United States, the impact of these conditions may be worse on historically underserved minorities, particularly African Americans. Genetic ancestry and differences in physiology are unlikely to be the sole or primary determinants of these disparities. In addition, research in this area has the ethically problematic possibility of conflating race with biology. Despite these important considerations and the challenges of conducting this work, population-based approaches for investigating the etiology of obesity and T2D may yield useful information about the pathophysiology of disease, and have implications that extend to all affected individuals. The purpose of this paper is to describe what is understood about the genetic variation that underlies obesity and T2D in African Americans and other individuals of more recent African descent and to highlight several examples that illustrate how ensuring adequate minority representation in genetic research improves its quality. For a variety of reasons a number of unique insights have been possible as a result of these efforts.

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“…Nevertheless, the study's result The low missing data on ethnicity (5.63%) indicates the ability of students to disclose their ethnic group root. Confessed ethnicity as a social identity, therefore, probably relates to genetic factors [2]. Although the analysis results demonstrate no association between ethnicity and emotional problems, there is a need for further exploration.…”

Section: Discussionmentioning

confidence: 78%

Emotional Problems in High School Students in Jakarta

Yusuf¹,

Sabarinah

2018

KLS

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A 2007 Indonesia survey reported emotional mental disorders was 11.6%. Its prevalence in the population aged 15 to 24 years was nearly 9%, and increasing in older age. Markedly, emotional problems may lead to depression associated with suicide, which is the most frequent cause of death among youths. Early detection of emotional problems in adolescence is, therefore, important for improving future general health. Since Jakarta was included in the big five proportion of this disorder (14.1%), the study objective was to describe the frequency and factors of emotional problems among high school students in Jakarta. An analysis employed polynomial logistic regression using 941 students obtained by a survey purposively conducted in one vocational and two public high schools in 2015 by the Ministry of Health. All firstand second-grade students, in similar numbers per school, were assessed using a selfadministered SDQ questionnaire that measured emotional problems. Results showed that emotional problems were differentiated by gender on the questionnaire: Girls measured 19% abnormal and 16.7% borderline, and boys measured 6.2% abnormal and 5.4% borderline. Likewise, girls were almost three-times more likely to score "abnormal" than were boys (95% CI was 1.7 to 4.8). Vocational school students were at double the risk, compared to public school students, of having emotional problems.To conclude, based on these findings, a school-based program in Jakarta addressing emotional disorders must utilize a gender-based design. Follow-up study is needed to explore different mental health problems that occur in public and vocational high schools, as well as ethnicity factors in emotional disorders.

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The use of race, ethnicity and ancestry in human genetic research

Cited by 45 publications

References 88 publications

A rapid screening of ancestry for genetic association studies in an admixed population from Pernambuco, Brazil

A rapid screening of ancestry for genetic association studies in an admixed population from Pernambuco, Brazil

Genetics of Obesity and Type 2 Diabetes in African Americans

Emotional Problems in High School Students in Jakarta

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