1. DRD2 allele frequencies and linkage disequilibria, including the -141CIns/Del promoter polymorphism, in European-American, African-American, and Japanese subjects.
- Author
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Gelernter J, Kranzler H, Cubells JF, Ichinose H, and Nagatsu T
- Subjects
- Alleles, Asian People genetics, Black People genetics, Connecticut, Europe ethnology, Humans, Japan, Mental Disorders etiology, White People genetics, Black or African American, Gene Frequency, Linkage Disequilibrium, Polymorphism, Genetic, Promoter Regions, Genetic, Racial Groups genetics, Receptors, Dopamine D2 genetics
- Abstract
Although many studies have addressed the possible association of D2 dopamine receptor (DRD2) alleles-particularly in the TaqI "A" system (with the DRD2*A1 allele)-with positive results for a range of behavioral phenotypes in populations of European origin, the interpretation of those results remains controversial; they could reflect physiological relationships between gene and phenotype, population stratification, or random variation. Since mutational analysis studies of the DRD2 gene have thus far failed to reveal a mutation that could provide a physiological basis for these results, functional meaning for them depends on linkage disequilibrium with a functional variant. A recently described functional variant in the DRD2 promoter (-141CIns/Del), which is about 250 kb 5' to the variants studied in psychiatric illness, could conceivably provide an explanation for the positive findings, if it were in linkage disequilibrium with DRD2*A1 in populations similar to those for which an association has been reported. We studied linkage disequilibrium (LD) and frequencies of haplotypes containing the DRD2*A, DRD2*D, and -141CIns/Del systems in European-Americans, African-Americans, and Japanese subjects. Although we found evidence for LD across the 250-kb first intron in both American populations, we did not find significant LD between the DRD2*A system and the -141CIns/Del system in the European-Americans. This newly described functional variant therefore does not provide a straightforward physiological explanation for previously reported genetic associations with DRD2*A1 in European-American subjects., (Copyright 1998 Academic Press.)
- Published
- 1998
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