Microsatellites used in forensics are in regions enriched for trait-associated variants

Vivian Link; Yuómi Jhony A Zavaleta; Rochelle-Jan Reyes; Linda Ding; Judy Wang; Rori V Rohlfs; Michael D Edge

doi:10.1016/j.isci.2023.107992

Microsatellites used in forensics are in regions enriched for trait-associated variants

iScience. 2023 Sep 21;26(10):107992. doi: 10.1016/j.isci.2023.107992. eCollection 2023 Oct 20.

Authors

Vivian Link¹, Yuómi Jhony A Zavaleta², Rochelle-Jan Reyes², Linda Ding¹, Judy Wang¹, Rori V Rohlfs^{2

3}, Michael D Edge¹

Affiliations

¹ Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
² Department of Biology, San Francisco State University, San Francisco, CA, USA.
³ Department of Data Science and Institute of Ecology and Evolution, University of Oregon, Eugene, OR, USA.

Abstract

The 20 short tandem repeat (STR) loci of the combined DNA index system (CODIS) are the basis of the vast majority of forensic genetics in the United States. One argument for permissive rules about the collection of CODIS genotypes is that the CODIS loci are thought to contain little information about ancestry or traits. However, in the past 20 years, a growing field has identified hundreds of thousands of genotype-trait associations. Here, we conduct a survey of the landscape of such associations surrounding the CODIS loci as compared with non-CODIS STRs. Although this study cannot establish or quantify associations between CODIS genotypes and phenotypes, we find that the regions around the CODIS loci are enriched for both known pathogenic variants (> 90th percentile) and for trait-associated SNPs identified in genome-wide association studies (GWAS) (≥ 95th percentile in 10kb and 100kb flanking regions), compared with other random sets of autosomal tetranucleotide-repeat STRs.

Keywords: Biological sciences; Genetics; Genomics.

Abstract

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