Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.
Stacey SN, Kehr B, Gudmundsson J, Zink F, Jonasdottir A, Gudjonsson SA, Sigurdsson A, Halldorsson BV, Agnarsson BA, Benediktsdottir KR, Aben KK, Vermeulen SH, Cremers RG, Panadero A, Helfand BT, Cooper PR, Donovan JL, Hamdy FC, Jinga V, Okamoto I, Jonasson JG, Tryggvadottir L, Johannsdottir H, Kristinsdottir AM, Masson G, Magnusson OT, Iordache PD, Helgason A, Helgason H, Sulem P, Gudbjartsson DF, Kong A, Jonsson E, Barkardottir RB, Einarsson GV, Rafnar T, Thorsteinsdottir U, Mates IN, Neal DE, Catalona WJ, Mayordomo JI, Kiemeney LA, Thorleifsson G, Stefansson K.
Stacey SN, et al. Among authors: cooper pr.
Hum Mol Genet. 2016 Mar 1;25(5):1008-18. doi: 10.1093/hmg/ddv622. Epub 2016 Jan 5.
Hum Mol Genet. 2016.
PMID: 26740556
Free PMC article.
Whole-genome sequence (WGS) data were used to tag the SVA-E with a surrogate SNP rs1035142[T] (r(2) = 0.999), which showed associations with both the splicing anomalies (P = 6.5 10(-32)) and with protection against prostate cancer (OR = 0.91, P = 3.8 10(-7))....
Whole-genome sequence (WGS) data were used to tag the SVA-E with a surrogate SNP rs1035142[T] (r(2) = 0.999), which showed ass …