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      Categorization of humans in biomedical research: genes, race and disease

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      Author(s): 1 , 2 , , 3 , 3 , 4
      Publication date (Electronic):
      Journal: Genome Biology
      Publisher: BioMed Central

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          Abstract

          A debate has arisen regarding the validity of racial/ethnic categories for biomedical and genetic research. An epidemiologic perspective on the issue of human categorization in biomedical and genetic research strongly supports the continued use of self-identified race and ethnicity.

          Abstract

          A debate has arisen regarding the validity of racial/ethnic categories for biomedical and genetic research. Some claim 'no biological basis for race' while others advocate a 'race-neutral' approach, using genetic clustering rather than self-identified ethnicity for human genetic categorization. We provide an epidemiologic perspective on the issue of human categorization in biomedical and genetic research that strongly supports the continued use of self-identified race and ethnicity.

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          Characterization of single-nucleotide polymorphisms in coding regions of human genes.

          M Cargill, D. Altshuler, J. Ireland … (1999)
          A major goal in human genetics is to understand the role of common genetic variants in susceptibility to common diseases. This will require characterizing the nature of gene variation in human populations, assembling an extensive catalogue of single-nucleotide polymorphisms (SNPs) in candidate genes and performing association studies for particular diseases. At present, our knowledge of human gene variation remains rudimentary. Here we describe a systematic survey of SNPs in the coding regions of human genes. We identified SNPs in 106 genes relevant to cardiovascular disease, endocrinology and neuropsychiatry by screening an average of 114 independent alleles using 2 independent screening methods. To ensure high accuracy, all reported SNPs were confirmed by DNA sequencing. We identified 560 SNPs, including 392 coding-region SNPs (cSNPs) divided roughly equally between those causing synonymous and non-synonymous changes. We observed different rates of polymorphism among classes of sites within genes (non-coding, degenerate and non-degenerate) as well as between genes. The cSNPs most likely to influence disease, those that alter the amino acid sequence of the encoded protein, are found at a lower rate and with lower allele frequencies than silent substitutions. This likely reflects selection acting against deleterious alleles during human evolution. The lower allele frequency of missense cSNPs has implications for the compilation of a comprehensive catalogue, as well as for the subsequent application to disease association.
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            The Apportionment of Human Diversity

            R. C. Lewontin (1972)
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              Ethnic disparities in diabetic complications in an insured population.

              Andrew Karter (2002)
              Higher rates of microvascular complications have been reported for minorities. Disparate access to quality health care is a common explanation for ethnic disparities in diabetic complication rates in the US population. Examining an ethnically diverse population with uniform health care coverage may be useful. To assess ethnic disparities in the incidence of diabetic complications within a nonprofit prepaid health care organization. Longitudinal observational study conducted January 1, 1995, through December 31, 1998, at Kaiser Permanente Medical Care Program in northern California. A total of 62 432 diabetic patients, including Asians (12%), blacks (14%), Latinos (10%), and whites (64%). Incident myocardial infarction (MI), stroke, congestive heart failure (CHF), and nontraumatic lower extremity amputation (LEA), defined by primary hospitalization discharge diagnosis, procedures, or underlying cause of death; and end-stage renal disease (ESRD), defined as renal insufficiency requiring renal replacement therapy or transplantation for survival or by underlying cause of death. Patterns of ethnic differences were not consistent across complications and frequently persisted despite adjustment for a wide range of demographic, socioeconomic, behavioral, and clinical factors. Adjusted hazard ratios (relative to that of whites) were 0.56, 0.68, and 0.68 for blacks, Asians, and Latinos, respectively (P<.001), for MI; 0.76 and 0.72 for Asians and Latinos, respectively (P<.01), for stroke; 0.70 and 0.61 for Asians and Latinos, respectively (P<.01), for CHF; 0.40 for Asians (P<.001) for LEA; and 2.03, 1.85, and 1.46 for blacks, Asians, and Latinos, respectively (P<.01), for ESRD. There were no statistically significant black-white differences for stroke, CHF, or LEA and no Latino-white differences for LEA. This study confirms previous reports of elevated incidence of ESRD among ethnic minorities, despite uniform medical care coverage, and provides new evidence that rates of other complications are similar or lower relative to those of whites. The persistence of ethnic disparities after adjustment suggests a possible genetic origin, the contribution of unmeasured environmental factors, or a combination of these factors.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Genome Biol
                Title: Genome Biology
                Publisher: BioMed Central (London )
                ISSN (Print): 1465-6906
                ISSN (Electronic): 1465-6914
                Publication date (Print): 2002
                Publication date (Electronic): 1 July 2002
                Volume: 3
                Issue: 7
                Pages: comment2007.1-comment2007.12
                Affiliations
                [1 ]Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5120, USA
                [2 ]Division of Research, Kaiser Permanente, Oakland, CA 94611-5714, USA
                [3 ]Department of Medicine, University of California, San Francisco, CA 94143, USA
                [4 ]Department of Statistics, Stanford University, Stanford, CA 94305, USA
                Correspondence: Neil Risch. E-mail: risch@lahmed.stanford.edu
                Article
                Publisher ID: gb-2002-3-7-comment2007
                DOI: 10.1186/gb-2002-3-7-comment2007
                PMC ID: 139378
                PubMed ID: 12184798
                SO-VID: 5605da11-7fa2-4bc9-9f1f-1c295ff76cb0
                Copyright © Copyright © 2002 BioMed Central Ltd
                History
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                Subject: Opinion

                ScienceOpen disciplines: Genetics
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                ScienceOpen disciplines: Genetics

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