ArticleHuman molecular genetics2016
Insertion of an SVA-E retrotransposon into the CASP8 gene is associated with protection against prostate cancer.
Open access · bronzeAbstract readMulticenter Study
In one paragraph
Article in Human molecular genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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23citing papers in PubMed
1.7field-weighted citation impact, top 16% of its field
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Who cites it
23 citing papers in PubMed, 31 citations in OpenAlex.
- Article
- Article
- The landscape of non-reference SINE-VNTR-Alus in amyotrophic lateral sclerosis.Experimental biology and medicine (Maywood, N.J.) · 2025Article
- Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism.American journal of human genetics · 2024Article
- A SINE-VNTR-Alu at the LRIG2 locus is associated with proximal and distal gene expression in CRISPR and population models.Scientific reports · 2024Article
- A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2023Article
- Mechanisms of disease-associated SINE-VNTR-Alus.Experimental biology and medicine (Maywood, N.J.) · 2022Review
- Role of Cell-Free DNA and Deoxyribonucleases in Tumor Progression.International journal of molecular sciences · 2021Review
- Human Recombinant DNase I (PulmozymeInternational journal of molecular sciences · 2021Article
- Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors.The Journal of pathology · 2021Article
- Multicolor Whole-Genome Mapping in Nanochannels for Genetic Analysis.Analytical chemistry · 2021Article
- Role of Transposable Elements in Gene Regulation in the Human Genome.Life (Basel, Switzerland) · 2021Review
- A SINE-VNTR-International journal of molecular sciences · 2020Article
- Targeting Circulating SINEs and LINEs with DNase I Provides Metastases Inhibition in Experimental Tumor Models.Molecular therapy. Nucleic acids · 2020Article
- The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome.International journal of molecular sciences · 2019Article
- Benefits and limitations of genome-wide association studies.Nature reviews. Genetics · 2019Review
- Retrotransposons in the development and progression of amyotrophic lateral sclerosis.Journal of neurology, neurosurgery, and psychiatry · 2019Review
- Article
- Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon inProceedings of the National Academy of Sciences of the United States of America · 2017Article
- The impact of structural variation on human gene expression.Nature genetics · 2017Article
Corrections and comments
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Authors and funding
44 authors at 16 institutions in 6 countries.
Simon N StaceydeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland, simon.stacey@decode.is kari.stefansson@decode.is.
Birte KehrdeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Julius GudmundssondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Florian ZinkdeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Aslaug JonasdottirdeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Sigurjon A GudjonssondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Asgeir SigurdssondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Bjarni V HalldorssondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland, Institute of Biomedical and Neural Engineering, School of Science and Engineering, Reykjavik University, 101 Reykjavik, Iceland.
Bjarni A AgnarssonLandspitali-University Hospital, IS-101 Reykjavik, Iceland, Faculty of Medicine.
Kristrun R BenediktsdottirLandspitali-University Hospital, IS-101 Reykjavik, Iceland, Faculty of Medicine.
Katja K H AbenNetherlands Comprehensive Cancer Organisation, 3501GD Utrecht, The Netherlands, Radboud University Medical Center, Radboud Institute for Health Sciences, 6500HB Nijmegen, The Netherlands.
Sita H VermeulenRadboud University Medical Center, Radboud Institute for Health Sciences, 6500HB Nijmegen, The Netherlands.
Ruben G CremersRadboud University Medical Center, Radboud Institute for Health Sciences, 6500HB Nijmegen, The Netherlands.
Angeles PanaderoDivision of Medical Oncology, Ciudad de Coria Hospital, 10800 Coria, Spain.
Brian T HelfandDivision of Urology, NorthShore University Health System, Evanston, IL 60201, USA.
Phillip R CooperDepartment of Urology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Jenny L DonovanSchool of Social and Community Medicine, University of Bristol, Bristol BS8 1TH, UK.
Freddie C HamdyNuffield Department of Surgical Science, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK.
Viorel JingaUniversity of Medicine and Pharmacy Carol Davila, Theodore Burghele Urology Clinic, Str. Dionisie Lupu, No.37, 020021 Bucharest, Romania.
Ichiro OkamotoDepartment of Dermatology, Medical University of Vienna, Währinger Gürtel 18-20, A-1090 Vienna, Austria.
Jon G JonassonLandspitali-University Hospital, IS-101 Reykjavik, Iceland, Faculty of Medicine, Icelandic Cancer Registry, Skogarhlid 8, 105 Reykjavik, Iceland.
Laufey TryggvadottirIcelandic Cancer Registry, Skogarhlid 8, 105 Reykjavik, Iceland.
Hrefna JohannsdottirdeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Anna M KristinsdottirdeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Gisli MassondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Olafur T MagnussondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Paul D IordacheInstitute of Biomedical and Neural Engineering, School of Science and Engineering, Reykjavik University, 101 Reykjavik, Iceland.
Agnar HelgasondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland, Department of Anthropology and.
Hannes HelgasondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland, School of Engineering and Natural Sciences, University of Iceland, IS-101 Reykjavik, Iceland.
Patrick SulemdeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Daniel F GudbjartssondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland, School of Engineering and Natural Sciences, University of Iceland, IS-101 Reykjavik, Iceland.
Augustine KongdeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Eirikur JonssonLandspitali-University Hospital, IS-101 Reykjavik, Iceland, Faculty of Medicine.
Rosa B BarkardottirLandspitali-University Hospital, IS-101 Reykjavik, Iceland, Faculty of Medicine.
Gudmundur V EinarssonLandspitali-University Hospital, IS-101 Reykjavik, Iceland, Faculty of Medicine.
Thorunn RafnardeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland, Faculty of Medicine.
Ioan N MatesUniversity of Medicine and Pharmacy Carol Davila, St Mary General Surgical Clinic, Blv. I. Mihalache 29-43, 011172 Bucharest, Romania.
David E NealNuffield Department of Surgical Science, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK, Oncology Centre, Addenbrooke's Hospital, University of Cambridge, Cambridge CB2 0QQ, UK and.
William J CatalonaDepartment of Urology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
José I MayordomoDivision of Medical Oncology, University of Colorado, Aurora, CO 80045, USA.
Lambertus A KiemeneyRadboud University Medical Center, Radboud Institute for Health Sciences, 6500HB Nijmegen, The Netherlands.
Gudmar ThorleifssondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland.
Kari StefanssondeCODE genetics/AMGEN, Sturlugata 8, 101 Reykjavik, Iceland, Faculty of Medicine, simon.stacey@decode.is kari.stefansson@decode.is.
deCODE Genetics (Iceland) · ISReykjavík University · ISFaculty (United Kingdom) · GBNational University Hospital of Iceland · ISNorthwestern University · USRadboud Institute for Molecular Life Sciences · NLRadboud University Medical Center · NLAddenbrooke's Hospital · GBCarol Davila University of Medicine and Pharmacy · ROIcelandic Cancer Society · ISMedical University of Vienna · ATNorthShore University HealthSystem · USUniversity of Bristol · GBUniversity of Colorado Anschutz Medical Campus · USUniversity of Iceland · ISUniversity of Oxford · GB
Funding
Tumor Environment and Metastasis (TEAM) Research ProgramP30CA060553 · NCI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Daniela E Matei · 1993 to 2026
$153.9MTargeting FOXA1-downstream pathways: a novel therapeutic strategy for castration-resistant prostate cancerP50CA180995 · NCI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI ABDULKADIR, SARKI A., HUSSAIN, MAHA H · 2015 to 2025
$19.9MLIMBIC &MEDULLARY MECH. IN COCAINE-RELATED SUDDEN DEATHR01DA006227 · NIDA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MASH, DEBORAH C. · 1990 to 2012
$3.7MEpigenetic Marks of Cocaine AddictionR01DA033684 · NIDA · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI MASH, DEBORAH C., TURECKI, GUSTAVO · 2011 to 2015
$3.6MMethods for high-resolution analysis of genetic effects on gene expressionR01MH101814 · NIMH · UNIVERSITY OF GENEVA · PI BUSTAMANTE, CARLOS DANIEL, DERMITZAKIS, EMMANOUIL · 2013 to 2016
$2.3MHarnessing GTEx to Create Transcriptome Knowledge and Inform Disease BiologyR01MH101820 · NIMH · UNIVERSITY OF CHICAGO · PI COX, NANCY J, NICOLAE, DAN LIVIU · 2013 to 2015
$2.3MIdentification and validation of cell specific eQTLs by Bayesian modelingR01MH101822 · NIMH · UNIVERSITY OF PENNSYLVANIA · PI BROWN, CHRISTOPHER DAVID, ENGELHARDT, BARBARA · 2013 to 2016
$1.9MGenetic Regulation of Gene Expression and its Impact on Phenotypes - SupplementR01MH101782 · NIMH · STANFORD UNIVERSITY · PI SABATTI, CHIARA · 2013 to 2016
$1.3MMODELING THE EFFECTS OF STRUCTURAL VARIATION IN GTEX DATA AND MENDELIAN DISEASER01MH101810 · NIMH · WASHINGTON UNIVERSITY · PI CONRAD, DONALD F. · 2013 to 2016
$1.3MSystems approaches to link tissue-specific expression to diseaseR01MH101819 · NIMH · NORTH CAROLINA STATE UNIVERSITY RALEIGH · PI NOBEL, ANDREW B, WRIGHT, FRED A. · 2013 to 2015
$1.3MStatistical analysis of gene expression quantitative trait loci (eQTL)R01MH101825 · NIMH · UNIVERSITY OF CHICAGO · PI STEPHENS, MATTHEW · 2013 to 2015
$1.1MStatistical analysis of gene expression quantitative trait loci (eQTL)R01MH090951 · NIMH · UNIVERSITY OF CHICAGO · PI PRITCHARD, JONATHAN K · 2010 to 2012
$873kCancer Research UKCCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENCI NIH HHS P30 CA060553NCI NIH HHS P50 CA180995NHLBI NIH HHS HHSN268201000029CNIDA NIH HHS DA006227NIDA NIH HHS DA033684NIDA NIH HHS R01 DA006227NIDA NIH HHS R01 DA033684NIMH NIH HHS MH090937NIMH NIH HHS MH090941NIMH NIH HHS MH090948NIMH NIH HHS MH090951NIMH NIH HHS MH101782NIMH NIH HHS MH101810NIMH NIH HHS MH101814NIMH NIH HHS MH101820NIMH NIH HHS MH101822NIMH NIH HHS MH101825NIMH NIH HHS R01 MH090936NIMH NIH HHS R01 MH090937NIMH NIH HHS R01 MH090941NIMH NIH HHS R01 MH090948NIMH NIH HHS R01 MH090951NIMH NIH HHS R01 MH101782NIMH NIH HHS R01 MH101810NIMH NIH HHS R01 MH101814NIMH NIH HHS R01 MH101819NIMH NIH HHS R01 MH101820NIMH NIH HHS R01 MH101822NIMH NIH HHS R01 MH101825
Abstract
Transcriptional and splicing anomalies have been observed in intron 8 of the CASP8 gene (encoding procaspase-8) in association with cutaneous basal-cell carcinoma (BCC) and linked to a germline SNP rs700635. Here, we show that the rs700635[C] allele, which is associated with increased risk of BCC and breast cancer, is protective against prostate cancer [odds ratio (OR) = 0.91, P = 1.0 × 10(-6)]. rs700635[C] is also associated with failures to correctly splice out CASP8 intron 8 in breast and prostate tumours and in corresponding normal tissues. Investigation of rs700635[C] carriers revealed that they have a human-specific short interspersed element-variable number of tandem repeat-Alu (SINE-VNTR-Alu), subfamily-E retrotransposon (SVA-E) inserted into CASP8 intron 8. The SVA-E shows evidence of prior activity, because it has transduced some CASP8 sequences during subsequent retrotransposition events. 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)).
Indexed as
RetroelementsRNA SplicingAdultAgedAged, 80 and overAllelesBasal Cell CarcinomaBase SequenceBreast NeoplasmsCaspase 8FemaleGenome-Wide Association StudyHumansIntronsMaleMiddle AgedCASP8 protein, humanCaspase 8Retroelements
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