Conceptualizing human variation

Keita, S. O. Y.; Kittles, Rick A.; Royal, Charmaine; Bonney, George E.; Furbert-Harris, Paulette; Dunston, Georgia M.; Rotimi, Charles N.

doi:10.1038/ng1455

Cited by 139 publications

(102 citation statements)

References 27 publications

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“…Some authors have thus advocated taking a shortcut using the ethnic background of patients to capture a fraction of the genetic (and environmental) variation underlying traits of medical relevance (Burchard et al 2003;Risch et al 2002). How well such a strategy may perform depends on a series of factors, including the number of genes involved in the trait as well as patterns of past and present natural selection that affected those genes (Keita et al 2004). …”

Section: Introductionmentioning

confidence: 99%

Geography is a better determinant of human genetic differentiation than ethnicity

2005

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Individuals differ genetically in their susceptibility to particular diseases and their response to drugs. However, personalized treatments are difficult to develop, because disease susceptibility and drug response generally have poorly characterized genetic architecture. It is thus tempting to use the ethnicity of patients to capture some of the variation in allele frequencies at the genes underlying a clinical trait. The success of such a strategy depends on whether human populations can be accurately classified into discrete genetic ethnic groups. Despite the heated discussions and controversies surrounding this issue, there has been essentially no attempt so far to quantify the relative power of ethnic groups and geography at predicting the proportion of shared alleles between human populations. Here, we present the first such quantification using a dataset of 51 populations typed at 377 microsatellite markers, and show that pair-wise geographic distances across landmasses constitute a far better predictor than ethnicity. Allele sharing between human populations decays smoothly with increasing physical distance at a worldwide scale. We discuss the relevance of those patterns for the expected distribution of variants of medical interest. The distribution patterns for genes coding for simple traits are expected to be highly heterogeneous, as most such genes experienced strong natural selection. However variants involved in complex traits are expected to behave essentially neutrally and we expect them to fit closely our predictions based on microsatellites. We conclude that the use of ethnicity alone will often be inadequate as a basis for medical treatment.

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Section: Introductionmentioning

confidence: 99%

Geography is a better determinant of human genetic differentiation than ethnicity

2005

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“…The latter contrasted with more than 48% of Whites with over 95% European American ancestry. Our figures highlight that variation within so-called "racial groups" deconstruct traditional racial categorization 34 .…”

Section: Discussionmentioning

confidence: 84%

Race as a Social Construct in Head and Neck Cancer Outcomes

Worsham¹,

Divine²,

Kittles³

2010

Otolaryngol.--head neck surg.

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Objective-We examined ancestry informative markers (AIMs) to estimate the amount of population admixture and control for this heterogeneity for stage and survival in a primary head and neck squamous carcinoma (HNSCC) cohort. Study Design-Historical cohort studySetting-Integrated health care system. Subjects-The cohort comprised 358 HNSCC who self-reported race as Caucasian American (CA), African American (AA), or Other.Methods-DNA was interrogated for West African (WA) and European genetic background by genotyping AIMs. Associations of race (self-report or WA ancestry) with stage and survival were analyzed using logistic regression and Cox regression modeling. A subgroup analysis for diagnosis (late versus early stage) and survival (time to death) and WA ancestry was performed for self-reported AAs.Results-There were significant associations between stage and self-reported race (p=0.04 {univariate}) and with cancer site (OP: p=0.014; HP: p=0.026{multivariate}). For prognosis, there were significant multivariate associations between stage (p=0.002), age (>65 years, p<.001), and cancer site (HP: p<0.001; OC: p=0.049), but self-reported race was not associated with overall survival. Interestingly, there was no association with degree of WA ancestry and stage or survival. In the sub-group analysis of genetic ancestry among self-reported AAs, cancer site remained an independent risk factor for stage (other site: p=0.026) and survival (OP: p=0.036). Late stage persisted as an independent variable for poor survival (p=0.032).Conclusions-Stratification within AAs by WA ancestry revealed no correlation with stage or survival suggesting that HNSCC outcomes with race may be due to social/ behavior factors rather than biological differences.

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“…Human beings are all one species and biologically distinct races do not exist. 67 The relationship between skin color and ancestry is also complex 68,69 and also appears to have been influenced by social factors (the racist treatment of people identified as black). 70 To some extent broad geographical ancestry (for example, Africa, Europe or Asia) can be predicted from the frequency of different genes.…”

Section: Genetic Research Without Consentmentioning

confidence: 99%

4. Prejudice, Stigma, and DNA Databases

Wallace¹

2011

Race and the Genetic Revolution

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Conceptualizing human variation

Cited by 139 publications

References 27 publications

Geography is a better determinant of human genetic differentiation than ethnicity

Geography is a better determinant of human genetic differentiation than ethnicity

Race as a Social Construct in Head and Neck Cancer Outcomes

4. Prejudice, Stigma, and DNA Databases

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