Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups

@article{Mountain2004AssessingGC,
  title={Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups},
  author={Joanna L. Mountain and Neil Risch},
  journal={Nature Genetics},
  year={2004},
  volume={36 Suppl 1},
  pages={S48-S53}
}
Descriptions of human genetic variation given thirty years ago have held up well, considering the substantial accrual of DNA sequence data in the interim. Most importantly, estimates of between-group genetic variation have remained relatively low. Despite the low average level of between-group variation, clusters recently inferred from multilocus genetic data coincide closely with groups defined by self-identified race or continental ancestry. This correspondence implies that genetic factors… 

The use of racial, ethnic, and ancestral categories in human genetics research.

Investigation of the biological, environmental, social, and psychological attributes associated with racial, ethnic, and ancestral categories will be an essential component of cross-disciplinary research into the origins, prevention, and treatment of common diseases, including those diseases that differ in prevalence among groups.

The use of racial, ethnic, and ancestral categories in human genetics research.

T careful investigations of the biological, environmental, social, and psychological attributes associated with these categories will be an essential component of cross-disciplinary research into the origins, prevention, and treatment of common diseases, including those diseases that differ in prevalence among groups.

Reduction of sample heterogeneity through use of population substructure: an example from a population of African American families with sarcoidosis.

The results demonstrate the usefulness of stratifying on genetically determined ancestry, to create genetically homogeneous subsets--more reliable and less controversial than race-stratified subset--in which to identify genetic factors.

Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine

Overall, the study demonstrates that AIMs can provide a useful adjunct to forensic medicine, pharmacogenomics and disease studies in which major ancestry or ethnic affiliation might be linked to specific outcomes.

Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals

The geographic distribution of admixture proportions in this sample reveals extensive population structure, illustrating the continuing impact of demographic history on the genetic diversity of Latin America.

Racial Differences in Genetic and Environmental Risk to Preterm Birth

Biometrical genetic models are applied to a large mixed-race sample consisting of 733,339 births to measure the extent that heritable factors and environmental exposures predict the timing of birth and explain differences between racial groups.

Racial and Ethnic Groups of Interest in Fertility Research

The National Institutes of Health, to further the goal of reducing and ultimately eliminating health disparities in the USA, requires collection and reporting of data on race and ethnicity for all

Genetic history of Latin America : fine-scale population structure, sub-continental ancestry and phenotypic diversity

Overall, it is demonstrated how increasing the robustness and accuracy of fine-scale genetic structure analysis allows a comprehensive picture of the histori-cal and biological diversity of Latin America, highlighting the impact of regional genetic variation on human phenotypic diversity.

Admixture mapping for hypertension loci with genome-scan markers

Admirixture mapping using genome-scan microsatellite markers among the African American participants in the US National Heart, Lung, and Blood Institute's Family Blood Pressure Program suggests that chromosome 6q24 and 21q21 may contain genes influencing risk of hypertension in African Americans.

The patterns of natural variation in human genes.

It is found that the patterns of human gene variation suggest that no one approach will be appropriate for genetic association studies across all genes, therefore, many different approaches may be required to identify the elusive genotypes associated with common human phenotypes.
...

References

SHOWING 1-10 OF 60 REFERENCES

Human population genetic structure and inference of group membership.

These results set a minimum for the number of markers that must be tested to make strong inferences about detecting population structure among Old World populations under ideal experimental conditions and note that, whereas some proxies correspond crudely, if at all, to population structure, the heuristic value of others is much higher.

Genetic Structure of Human Populations

General agreement of genetic and predefined populations suggests that self-reported ancestry can facilitate assessments of epidemiological risks but does not obviate the need to use genetic information in genetic association studies.

Interrogating a high-density SNP map for signatures of natural selection.

An analysis of single nucleotide polymorphisms with allele frequencies that were determined in three populations provides a first generation natural selection map of the human genome and provides compelling evidence that selection has shaped extant patterns of human genomic variation.

Deconstructing the relationship between genetics and race

The success of many strategies for finding genetic variants that underlie complex traits depends on how genetic variation is distributed among human populations, and recent discoveries are helping to deconstruct this relationship, and provide better guidance to scientists and policy makers.

Human Genetic Diversity and the Nonexistence of Biological Races

By relaxing the underlying statistical assumptions, the results for chimpanzees become consistent with common knowledge, and a richer pattern of human genetic diversity is seen, while some human groups are far more diverged than would be implied by standard computations of FST.

Multilocus genotypes, a tree of individuals, and human evolutionary history.

The authors' analyses indicate that some recent ancestor(s) of each of a few of the individuals tested may have immigrated, and the populations within regional groups appear to have been isolated from one another for <25,000 years.

Population genetic structure of variable drug response

It is found that commonly used ethnic labels are both insufficient and inaccurate representations of the inferred genetic clusters, and that drug-metabolizing profiles, defined by the distribution of DME variants, differ significantly among the clusters.

Evaluating loci for use in the genetic analysis of population structure

  • M. BeaumontR. Nichols
  • Biology
    Proceedings of the Royal Society of London. Series B: Biological Sciences
  • 1996
It is suggested that genetic variation at a discrepant locus, Identified under these conditions, is likely to have been influenced by natural selection, either acting on the locus itself or at a closely linked locus.

An apportionment of human DNA diversity.

By partitioning genetic variances at three hierarchical levels of population subdivision, it is found that differences between members of the same population account for 84.4% of the total, which is in excellent agreement with estimates based on allele frequencies of classic, protein polymorphisms.

Drift, admixture, and selection in human evolution: a study with DNA polymorphisms.

A reconstruction of human differentiation based on 100 DNA polymorphisms tested in five populations from four continents shows that Europeans do not fit a simple model of independently evolving populations with equal evolutionary rates, and evolutionary models involving early admixture are compatible with the data.
...