Camargo-Forero N. auteur aut IRD Orozco-Arias S. auteur aut IRD Agudelo J. M. P. auteur aut IRD Guyot Romain auteur aut IRD text journalArticle eng text/pdf born digital access Human endogenous retroviruses (HERVs) are LTR retrotransposons that are present in the human genome. Among them, members of the HERV-K (HML-2) group are suspected to play a role in the development of different types of cancer, including lung, ovarian, and prostate cancer, as well as leukemia. Acute myeloid leukemia (AML) is an important disease that causes 1% of cancer deaths in the United States and has a survival rate of 28.7%. Here, we describe a method for assessing the statistical association between HERV-K (HML-2) transposable element insertion polymorphisms (or TIPs) and AML, using whole-genome sequencing and read mapping using TIP_finder software. Our results suggest that 101 polymorphisms involving HERV-K (HML-2) elements were correlated with AML, with a percentage between 44.4 to 56.6%, most of which (70) were located in the region from 8q24.13 to 8q24.21. Moreover, it was found that the TRIB1, LRATD2, POU5F1B, MYC, PCAT1, PVT1, and CCDC26 genes could be displaced or fragmented by TIPs. Furthermore, a general method was devised to facilitate analysis of the correlation between transposable element insertions and specific diseases. Finally, although the relationship between HERV-K (HML-2) TIPs and AML remains unclear, the data reported in this study indicate a statistical correlation, as supported by the X2 test with p-values < 0.05. specialized 052 050 020 168 4 125 [12 p.] 2023 0304-8608 https://www.documentation.ird.fr/hor/fdi:010087597 10.1007/s00705-023-05747-0 0304-8608 [F B010087597] https://www.documentation.ird.fr/hor/fdi:010087597 https://www.documentation.ird.fr/intranet/publi/2023-06/010087597.pdf Accès réservé (Intranet de l'IRD) IRD - Base Horizon / Pleins textes 2023-06-30 2023-06-30 fdi:010087597 fre