Pretraga

Pretražite po imenu i prezimenu autora, mentora, urednika, prevoditelja

Napredna pretraga

Pregled bibliografske jedinice broj: 1249506

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

(Blue Mountains Eye Study-GWAS Group ; NEIGHBORHOOD Consortium ; Wellcome Trust Case Control Consortium 2 (WTCCC2)) Iglesias, Adriana I.; Mishra, Aniket; Vitart, Veronique; Bykhovskaya, Yelena; Hoehn, Rene; Springelkamp, Henriet; Cuellar-Partida, Gabriel; Gharahkhani, Puya; Bailey, Jessica N. Cooke; Willoughby, Colin E. et al.
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases // Nature communications, 9 (2018), 1864, 11 doi:10.1038/s41467-018-03646-6 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1249506 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Autori
Iglesias, Adriana I. ; Mishra, Aniket ; Vitart, Veronique ; Bykhovskaya, Yelena ; Hoehn, Rene ; Springelkamp, Henriet ; Cuellar-Partida, Gabriel ; Gharahkhani, Puya ; Bailey, Jessica N. Cooke ; Willoughby, Colin E. ; Li, Xiaohui ; Yazar, Seyhan ; Nag, Abhishek ; Khawaja, Anthony P. ; Polašek, Ozren ; Siscovick, David ; Mitchell, Paul ; Tham, Yih Chung ; Haines, Jonathan L. ; Kearns, Lisa S. ; Hayward, Caroline ; Shi, Yuan ; van Leeuwen, Elisabeth M. ; Taylor, Kent D. ; Bonnemaijer, Pieter ; Rotter, Jerome I. ; Martin, Nicholas G. ; Zeller, Tanja ; Mills, Richard A. ; Staffieri, Sandra E. ; Jonas, Jost B. ; Schmidtmann, Irene ; Boutin, Thibaud ; Kang, Jae H. ; Lucas, Sionne E. M. ; Wong, Tien Yin ; Beutel, Manfred E. ; Wilson, James F. ; Uitterlinden, Andre G. ; Vithana, Eranga N. ; Foster, Paul J. ; Hysi, Pirro G. ; Hewitt, Alex W. ; Khor, Chiea Chuen ; Pasquale, Louis R. ; Montgomery, Grant W. ; Klaver, Caroline C. W. ; Aung, Tin ; Pfeiffer, Norbert ; Mackey, David A. ; Hammond, Christopher J. ; Cheng, Ching-Yu ; Craig, Jamie E. ; Rabinowitz, Yaron S. ; Wiggs, Janey L. ; Burdon, Kathryn P. ; van Duijn, Cornelia M. ; MacGregor, Stuart

Kolaboracija
Blue Mountains Eye Study-GWAS Group ; NEIGHBORHOOD Consortium ; Wellcome Trust Case Control Consortium 2 (WTCCC2)

Izvornik
Nature communications (2041-1723) 9 (2018); 1864, 11

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
CHROMATIN STATES ; GENE-EXPRESSION ; RISK-FACTOR ; MUTATIONS ; LUMICAN ; MOUSE ; KERATOCONUS ; DECORIN ; POLYMORPHISMS ; HERITABILITY

Sažetak
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT- loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = -0.62, P = 5.30 x 10(-5)) but not between CCT and primary open-angle glaucoma (r = -0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Ozren Polašek (autor)

Poveznice na cjeloviti tekst rada:

doi www.ncbi.nlm.nih.gov

Citiraj ovu publikaciju:

(Blue Mountains Eye Study-GWAS Group ; NEIGHBORHOOD Consortium ; Wellcome Trust Case Control Consortium 2 (WTCCC2)) Iglesias, Adriana I.; Mishra, Aniket; Vitart, Veronique; Bykhovskaya, Yelena; Hoehn, Rene; Springelkamp, Henriet; Cuellar-Partida, Gabriel; Gharahkhani, Puya; Bailey, Jessica N. Cooke; Willoughby, Colin E. et al.
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases // Nature communications, 9 (2018), 1864, 11 doi:10.1038/s41467-018-03646-6 (međunarodna recenzija, članak, znanstveni)
(Blue Mountains Eye Study-GWAS Group ; NEIGHBORHOOD Consortium ; Wellcome Trust Case Control Consortium 2 (WTCCC2)) (Blue Mountains Eye Study-GWAS Group, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2)) Iglesias, A., Mishra, A., Vitart, V., Bykhovskaya, Y., Hoehn, R., Springelkamp, H., Cuellar-Partida, G., Gharahkhani, P., Bailey, J. & Willoughby, C. (2018) Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. Nature communications, 9, 1864, 11 doi:10.1038/s41467-018-03646-6.
@article{article, author = {Iglesias, Adriana I. and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Hoehn, Rene and Springelkamp, Henriet and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N. Cooke and Willoughby, Colin E. and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P. and Pola\v{s}ek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L. and Kearns, Lisa S. and Hayward, Caroline and Shi, Yuan and van Leeuwen, Elisabeth M. and Taylor, Kent D. and Bonnemaijer, Pieter and Rotter, Jerome I. and Martin, Nicholas G. and Zeller, Tanja and Mills, Richard A. and Staffieri, Sandra E. and Jonas, Jost B. and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H. and Lucas, Sionne E. M. and Wong, Tien Yin and Beutel, Manfred E. and Wilson, James F. and Uitterlinden, Andre G. and Vithana, Eranga N. and Foster, Paul J. and Hysi, Pirro G. and Hewitt, Alex W. and Khor, Chiea Chuen and Pasquale, Louis R. and Montgomery, Grant W. and Klaver, Caroline C. W. and Aung, Tin and Pfeiffer, Norbert and Mackey, David A. and Hammond, Christopher J. and Cheng, Ching-Yu and Craig, Jamie E. and Rabinowitz, Yaron S. and Wiggs, Janey L. and Burdon, Kathryn P. and van Duijn, Cornelia M. and MacGregor, Stuart}, year = {2018}, pages = {11}, DOI = {10.1038/s41467-018-03646-6}, chapter = {1864}, keywords = {CHROMATIN STATES, GENE-EXPRESSION, RISK-FACTOR, MUTATIONS, LUMICAN, MOUSE, KERATOCONUS, DECORIN, POLYMORPHISMS, HERITABILITY}, journal = {Nature communications}, doi = {10.1038/s41467-018-03646-6}, volume = {9}, issn = {2041-1723}, title = {Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases}, keyword = {CHROMATIN STATES, GENE-EXPRESSION, RISK-FACTOR, MUTATIONS, LUMICAN, MOUSE, KERATOCONUS, DECORIN, POLYMORPHISMS, HERITABILITY}, chapternumber = {1864} }
@article{article, author = {Iglesias, Adriana I. and Mishra, Aniket and Vitart, Veronique and Bykhovskaya, Yelena and Hoehn, Rene and Springelkamp, Henriet and Cuellar-Partida, Gabriel and Gharahkhani, Puya and Bailey, Jessica N. Cooke and Willoughby, Colin E. and Li, Xiaohui and Yazar, Seyhan and Nag, Abhishek and Khawaja, Anthony P. and Pola\v{s}ek, Ozren and Siscovick, David and Mitchell, Paul and Tham, Yih Chung and Haines, Jonathan L. and Kearns, Lisa S. and Hayward, Caroline and Shi, Yuan and van Leeuwen, Elisabeth M. and Taylor, Kent D. and Bonnemaijer, Pieter and Rotter, Jerome I. and Martin, Nicholas G. and Zeller, Tanja and Mills, Richard A. and Staffieri, Sandra E. and Jonas, Jost B. and Schmidtmann, Irene and Boutin, Thibaud and Kang, Jae H. and Lucas, Sionne E. M. and Wong, Tien Yin and Beutel, Manfred E. and Wilson, James F. and Uitterlinden, Andre G. and Vithana, Eranga N. and Foster, Paul J. and Hysi, Pirro G. and Hewitt, Alex W. and Khor, Chiea Chuen and Pasquale, Louis R. and Montgomery, Grant W. and Klaver, Caroline C. W. and Aung, Tin and Pfeiffer, Norbert and Mackey, David A. and Hammond, Christopher J. and Cheng, Ching-Yu and Craig, Jamie E. and Rabinowitz, Yaron S. and Wiggs, Janey L. and Burdon, Kathryn P. and van Duijn, Cornelia M. and MacGregor, Stuart}, year = {2018}, pages = {11}, DOI = {10.1038/s41467-018-03646-6}, chapter = {1864}, keywords = {CHROMATIN STATES, GENE-EXPRESSION, RISK-FACTOR, MUTATIONS, LUMICAN, MOUSE, KERATOCONUS, DECORIN, POLYMORPHISMS, HERITABILITY}, journal = {Nature communications}, doi = {10.1038/s41467-018-03646-6}, volume = {9}, issn = {2041-1723}, title = {Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases}, keyword = {CHROMATIN STATES, GENE-EXPRESSION, RISK-FACTOR, MUTATIONS, LUMICAN, MOUSE, KERATOCONUS, DECORIN, POLYMORPHISMS, HERITABILITY}, chapternumber = {1864} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE
  • Nature Index

Citati:

    Altmetrijski pokazatelji:


    Podijeli:





    Contrast
    Increase Font
    Decrease Font
    Dyslexic Font
    CROSBI koristi kolačiće (cookies) kako bi poboljšao funkcionalnost stranice.