Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism
Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with the protective alleles delaying onset by seven yea...
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Nature Portfolio
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/11ebd21e7c7b492c804497da333f8fd9 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:11ebd21e7c7b492c804497da333f8fd9 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:11ebd21e7c7b492c804497da333f8fd92021-12-02T15:49:38ZIdentifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism10.1038/s41467-021-23491-42041-1723https://doaj.org/article/11ebd21e7c7b492c804497da333f8fd92021-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-23491-4https://doaj.org/toc/2041-1723Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with the protective alleles delaying onset by seven years.Björn-Hergen LaabsChristine KleinJelena PozojevicAloysius DomingoNorbert BrüggemannKaren GrützRaymond L. RosalesRoland Dominic JamoraGerard SaranzaCid Czarina E. DiestaMichael WittigSusen SchaakeMarija Dulovic-MahlowJana QuismundoPia OttoPatrick AcunaCriscely GoNutan SharmaTrisha Multhaupt-BuellUlrich MüllerHenrike HanssenFabian KilpertAndre FrankeArndt RolfsPeter BauerValerija DobričićKatja LohmannLaurie J. OzeliusFrank J. KaiserInke R. KönigAna WestenbergerNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-8 (2021) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Björn-Hergen Laabs Christine Klein Jelena Pozojevic Aloysius Domingo Norbert Brüggemann Karen Grütz Raymond L. Rosales Roland Dominic Jamora Gerard Saranza Cid Czarina E. Diesta Michael Wittig Susen Schaake Marija Dulovic-Mahlow Jana Quismundo Pia Otto Patrick Acuna Criscely Go Nutan Sharma Trisha Multhaupt-Buell Ulrich Müller Henrike Hanssen Fabian Kilpert Andre Franke Arndt Rolfs Peter Bauer Valerija Dobričić Katja Lohmann Laurie J. Ozelius Frank J. Kaiser Inke R. König Ana Westenberger Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism |
| description |
Age at onset of X-linked dystonia-parkinsonism is 50% explained by the length of a repeat in an SVA insert. The authors perform a GWAS for genetic modifiers and discover three more loci, accounting for another 13% of variability in age at onset with the protective alleles delaying onset by seven years. |
| format |
article |
| author |
Björn-Hergen Laabs Christine Klein Jelena Pozojevic Aloysius Domingo Norbert Brüggemann Karen Grütz Raymond L. Rosales Roland Dominic Jamora Gerard Saranza Cid Czarina E. Diesta Michael Wittig Susen Schaake Marija Dulovic-Mahlow Jana Quismundo Pia Otto Patrick Acuna Criscely Go Nutan Sharma Trisha Multhaupt-Buell Ulrich Müller Henrike Hanssen Fabian Kilpert Andre Franke Arndt Rolfs Peter Bauer Valerija Dobričić Katja Lohmann Laurie J. Ozelius Frank J. Kaiser Inke R. König Ana Westenberger |
| author_facet |
Björn-Hergen Laabs Christine Klein Jelena Pozojevic Aloysius Domingo Norbert Brüggemann Karen Grütz Raymond L. Rosales Roland Dominic Jamora Gerard Saranza Cid Czarina E. Diesta Michael Wittig Susen Schaake Marija Dulovic-Mahlow Jana Quismundo Pia Otto Patrick Acuna Criscely Go Nutan Sharma Trisha Multhaupt-Buell Ulrich Müller Henrike Hanssen Fabian Kilpert Andre Franke Arndt Rolfs Peter Bauer Valerija Dobričić Katja Lohmann Laurie J. Ozelius Frank J. Kaiser Inke R. König Ana Westenberger |
| author_sort |
Björn-Hergen Laabs |
| title |
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism |
| title_short |
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism |
| title_full |
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism |
| title_fullStr |
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism |
| title_full_unstemmed |
Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism |
| title_sort |
identifying genetic modifiers of age-associated penetrance in x-linked dystonia-parkinsonism |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/11ebd21e7c7b492c804497da333f8fd9 |
| work_keys_str_mv |
AT bjornhergenlaabs identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT christineklein identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT jelenapozojevic identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT aloysiusdomingo identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT norbertbruggemann identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT karengrutz identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT raymondlrosales identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT rolanddominicjamora identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT gerardsaranza identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT cidczarinaediesta identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT michaelwittig identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT susenschaake identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT marijadulovicmahlow identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT janaquismundo identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT piaotto identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT patrickacuna identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT criscelygo identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT nutansharma identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT trishamulthauptbuell identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT ulrichmuller identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT henrikehanssen identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT fabiankilpert identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT andrefranke identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT arndtrolfs identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT peterbauer identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT valerijadobricic identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT katjalohmann identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT lauriejozelius identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT frankjkaiser identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT inkerkonig identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism AT anawestenberger identifyinggeneticmodifiersofageassociatedpenetranceinxlinkeddystoniaparkinsonism |
| _version_ |
1718385674297540608 |