Abstract
Age prediction is an important field in forensic and aging research. Traditional methods used DNA methylation, telomere shortening, and mitochondrial DNA mutations to conduct age prediction models. Sex chromosomes, like the Y chromosome, have a significant role in aging as previously reported in hematopoietic disease and many non-reproductive cancers. Until now, there is no age predictor based on the percentage of loss of Y chromosome (LOY). LOY has been previously revealed to be correlated with Alzheimer’s disease, short survival, and higher risk of cancer. The possible correlation of LOY between normal aging was not fully explored. In this study, we conducted age prediction by measuring LOY percentage by droplet digital PCR (ddPCR), based on 232 healthy male samples, including 171 blood samples, 49 saliva samples, 12 semen samples. The age group of samples ranges from 0 to 99 years, with two individuals in almost every single age. Pearson correlation method was performed to calculate the correlation index. The result indicated a correlation index of 0.21 (p = 0.0059) between age and LOY percentage in blood samples, with the regression formula being y = − 0.016823 + 0.001098x. The correlation between LOY percentage and age is obvious only when the individuals were divided into different age groups (R = 0.73, p = 0.016). In the studied saliva and semen samples, p-values of the correlation are 0.11 and 0.20, respectively, showing no significant association between age and LOY percentage in these two biological materials. For the first time, we investigated male-specific age predictor based on LOY. The study showed that LOY in leukocytes can be regarded as a male-specific age predictor for age group estimation in forensic genetics. This study might be indicative for forensic applications and aging research.
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Data availability
All relevant data are within the manuscript and its Supporting Information files. The code used for data processing was stored in Github (https://github.com/mengyuanSong/LOY/tree/main).
Abbreviations
- LOY:
-
Loss of Y chromosome
- ddPCR:
-
Droplet digital PCR
- MAD:
-
Mean absolute deviation
- FISH:
-
Fluorescence in situ hybridization
- CE:
-
Capillary electrophoresis
- AMOVA:
-
Analysis of molecular variance
- EDY:
-
Extreme downregulation of Y chromosome
- LOD:
-
Limit of detection
- AZF:
-
Azoospermia factors
- GOY:
-
Gain of Y chromosome
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Acknowledgements
Thanks for the anonymous volunteers who provide samples. This work was supported by National Natural Science Foundation of China (grant numbers 82202614 and 81871532) and supported by the National Key Research and Development Program of China (No.2020YFC2005300). Thanks for the anonymous volunteers who provide samples.
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Conceptualization: MS; sample curation: MS, FS, XW; experiment: MS, FS; funding acquisition: YH; data analysis: MS, LJ, WZ, NW; supervision: FS, YH. Writing—original draft: MS; writing—review and editing: MS, WZ, NW, FS, YH. MS and FS conducted the experiment.
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Communicated by Shuhua Xu.
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Song, M., Jiang, L., Wang, X. et al. Loss of Y chromosome in leukocytes can be regarded as a male-specific age predictor for age group estimation in forensic genetics. Mol Genet Genomics 298, 1073–1085 (2023). https://doi.org/10.1007/s00438-023-02039-9
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DOI: https://doi.org/10.1007/s00438-023-02039-9