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- Title
A lesson not learned: allele misassignment.
- Authors
Sand, Philipp G.
- Abstract
Misassigned alleles can annihilate efforts to control quality in otherwise well-designed genetic association analyses. To date, the issue remains underreported, as is exemplified by studies of a diallelic DRD2 missense variant in schizophrenia. For this variant, allele frequency data have been either misassigned, or incorrectly cited on four consecutive occasions. Contrary to conjecture, low heterozygosity has not guarded against the error with regard to rs1801028, a SNP that features a canonical base pair transversion, G:C. Measures are discussed that may help to identify misassigned alleles, and to avoid related perils pending more systematic investigation of this confounder in genotype-phenotype associations.
- Subjects
GENES; GENETIC polymorphisms; SCHIZOPHRENIA; PHENOTYPES; GENOTYPE-environment interaction
- Publication
Behavioral & Brain Functions, 2007, Vol 3, p1
- ISSN
1744-9081
- Publication type
Article
- DOI
10.1186/1744-9081-3-65