Race, Ethnicity, Ancestry, and Genomics in Hawai‘i

2020 ◽  
Vol 50 (5) ◽  
pp. 596-623
Author(s):  
Joan H. Fujimura ◽  
Ramya M. Rajagopalan

This paper examines how populations in a multiethnic cohort project used to study environmental causes of cancer in Hawai‘i have been reorganized in ways that have contributed to the racialization of the human genome. We examine the development of two central genomic data infrastructures, the multiethnic cohort (MEC) and a collection of reference DNA called the HapMap. The MEC study populations were initially designed to examine differences in nutrition as risk factors for disease, and then were repurposed to search for potential genomic risk factors for disease. The biomaterials collected from these populations became institutionalized in a data repository that later became a major source of “diverse” DNA for other studies of genomic risk factors for disease. We examine what happened when the MEC biorepository and dataset, organized by ethnic labels, came to be used, in conjunction with the data from the HapMap reference populations, to construct human population genetic categories. Developing theory on genomic racialization, we examine (1) how and why Hawai‘i became sited as a “virtual natural laboratory” for collecting and examining biomaterials from different ethnic groups, and the consequences of the transformation of those local Hawaiian ethnic groups into five racial and ethnic OMB categories meant to represent global continental groups for genomic studies. We then discuss (2) how this transformation, via the geneticists’ effort to standardize the study of genomic risk for disease around the globe, led to the construction of humans as statistical genetic resources and entities for genomic biomedicine and the human population genetics discipline. Through this transformation of populations and biorepositories, we argue (3) that the twenty-first century has seen the intertwining of “race,” “population,” and “genome” via large-scale genomic association studies. We show how “race” has become imbricated in human population genetics and genomic biomedicine. This essay is part of a special issue entitled Pacific Biologies: How Humans Become Genetic, edited by Warwick Anderson and M. Susan Lindee.

2007 ◽  
Vol 15 (5) ◽  
pp. 578-583 ◽  
Author(s):  
Georgios Athanasiadis ◽  
Esther Esteban ◽  
Marc Via ◽  
Jean-Michel Dugoujon ◽  
Nicholas Moschonas ◽  
...  

2011 ◽  
Vol 20 (4) ◽  
pp. 434-440 ◽  
Author(s):  
Maarten HD Larmuseau ◽  
Claudio Ottoni ◽  
Joost AM Raeymaekers ◽  
Nancy Vanderheyden ◽  
Hendrik FM Larmuseau ◽  
...  

Author(s):  
Anne Hinks ◽  
Wendy Thomson

Juvenile rheumatic diseases are heterogeneous, complex genetic diseases; to date only juvenile idiopathic arthritis (JIA) has been extensively studied in terms of identifying genetic risk factors. The MHC region is a well-established risk factor but in the last few years candidate gene and large-scale genome-wide association studies have been utilized in the search for non-HLA risk factors. There are now 17 JIA susceptibility loci which reach the genome-wide significance threshold for association and a further 7 regions with evidence for association in more than one study. In addition, some subtype-specific associations are emerging. These risk loci now need to be investigated further using fine-mapping strategies and then appropriate functional studies to show how the variant alters the gene function. This knowledge will not only lead to a better understanding of disease pathogenesis for juvenile rheumatic diseases but may also aid in the classification of these heterogeneous diseases. It may identify new pathways for potential therapeutic targets and help in the prediction of disease outcome and response to treatment.


Science ◽  
1966 ◽  
Vol 153 (3736) ◽  
pp. 660-661
Author(s):  
J. N. Spuhler

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