Association between copy number variations in the OCA2-HERC2 locus and human eye colour
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Association between copy number variations in the OCA2-HERC2 locus and human eye colour. / Salvo, Nina Mjølsnes; Janssen, Kirstin; Olsen, Gunn Hege; Berg, Thomas; Andersen, Jeppe Dyrberg.
In: Forensic Science International: Genetics Supplement Series, Vol. 8, 2022, p. 82-84.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Association between copy number variations in the OCA2-HERC2 locus and human eye colour
AU - Salvo, Nina Mjølsnes
AU - Janssen, Kirstin
AU - Olsen, Gunn Hege
AU - Berg, Thomas
AU - Andersen, Jeppe Dyrberg
N1 - Funding Information: The authors would like to thank all participants. The project was funded by UiT-The Arctic University of Norway .
PY - 2022
Y1 - 2022
N2 - Human eye colour variation is strongly associated with single nucleotide polymorphisms (SNPs) in the OCA2-HERC2 locus, especially rs12913832 that is found in an enhancer element of OCA2. In a previous study we found that 43 out of 166 individuals in a Norwegian population with the brown eye colour genotype HERC2 rs12913832:AA or AG, did not have the expected brown eye colour. To investigate if duplications or deletions in the OCA2-HERC2 locus could explain the blue eye colour in these individuals, we analysed massively parallel sequencing (MPS) data for copy number variations (CNVs) in the OCA2-HERC2 region. The ∼500 kb long OCA2-HERC2 locus was sequenced in 94 individuals with the rs12913832:AG and AA genotypes. Of these, 43 were observed to have blue eye colour and 51 were observed to have brown eye colour. CNVs were analysed using R and the R-package panelcn.MOPS - CNV detection tool for targeted NGS panel data. In rs12913832:AG individuals, CNVs in 32 regions were significantly associated with blue eye colour (Benjamini-Hochberg adjusted p-value ≤ 0.05). In rs12913832:AA individuals, CNVs in 14 regions were associated with blue eye colour using raw p-values (p ≤ 0.05). The functional effects of these CNVs on OCA2 expression are yet to be investigated. However, this study suggests that CNVs in the OCA2-HERC2 locus might explain why some of the rs12913832:AG and AA individuals have unexpectedly blue eyes.
AB - Human eye colour variation is strongly associated with single nucleotide polymorphisms (SNPs) in the OCA2-HERC2 locus, especially rs12913832 that is found in an enhancer element of OCA2. In a previous study we found that 43 out of 166 individuals in a Norwegian population with the brown eye colour genotype HERC2 rs12913832:AA or AG, did not have the expected brown eye colour. To investigate if duplications or deletions in the OCA2-HERC2 locus could explain the blue eye colour in these individuals, we analysed massively parallel sequencing (MPS) data for copy number variations (CNVs) in the OCA2-HERC2 region. The ∼500 kb long OCA2-HERC2 locus was sequenced in 94 individuals with the rs12913832:AG and AA genotypes. Of these, 43 were observed to have blue eye colour and 51 were observed to have brown eye colour. CNVs were analysed using R and the R-package panelcn.MOPS - CNV detection tool for targeted NGS panel data. In rs12913832:AG individuals, CNVs in 32 regions were significantly associated with blue eye colour (Benjamini-Hochberg adjusted p-value ≤ 0.05). In rs12913832:AA individuals, CNVs in 14 regions were associated with blue eye colour using raw p-values (p ≤ 0.05). The functional effects of these CNVs on OCA2 expression are yet to be investigated. However, this study suggests that CNVs in the OCA2-HERC2 locus might explain why some of the rs12913832:AG and AA individuals have unexpectedly blue eyes.
KW - Copy number variation
KW - Eye colour
KW - Forensic DNA phenotyping
KW - Forensic genetics
KW - Next generation sequencing
KW - OCA2-HERC2
U2 - 10.1016/j.fsigss.2022.09.030
DO - 10.1016/j.fsigss.2022.09.030
M3 - Journal article
AN - SCOPUS:85139278260
VL - 8
SP - 82
EP - 84
JO - Forensic Science International: Genetics. Supplement Series
JF - Forensic Science International: Genetics. Supplement Series
SN - 1875-1768
ER -
ID: 322787734