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Pregled bibliografske jedinice broj: 488544

New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8


Vitart, Veronique; Bencić, Goran; Hayward, Caroline; Skunca Herman, Jelena; Huffman, Jennifer; Campbell, Susan; Bućan, Kajo; Navarro, Pau; Gunjaca, Grgo; Marin, Jelena et al.
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8 // Human molecular genetics, 19 (2010), 21; 4304-4311 doi:10.1093/hmg/ddq349 (međunarodna recenzija, članak, znanstveni)


CROSBI ID: 488544 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8

Autori
Vitart, Veronique ; Bencić, Goran ; Hayward, Caroline ; Skunca Herman, Jelena ; Huffman, Jennifer ; Campbell, Susan ; Bućan, Kajo ; Navarro, Pau ; Gunjaca, Grgo ; Marin, Jelena ; Zgaga, Lina ; Kolčić, Ivana ; Polašek, Ozren ; Kirin, Mirna ; Hastie, Nick ; Wilson, Jim ; Rudan, Igor ; Campbell, Harry ; Vatavuk, Zoran ; Fleck, Bill ; Wright, Alan

Izvornik
Human molecular genetics (0964-6906) 19 (2010), 21; 4304-4311

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

Ključne riječi
cornea; thickness; genome-wide

Sažetak
Central corneal thickness (CCT) is a highly heritable trait, which has been proposed to influence disorders of the anterior segment of the eye. A genome-wide association study (GWAS) of CCT was performed in 2269 individuals from three Croatian and one Scottish population. In the discovery set (1445 individuals), two genome-wide significant associations were identified for single nucleotide polymorphisms rs12447690 (β = 0.23 SD, P = 4.4 × 10(-9)) and rs1536482 (β = 0.22 SD, P = 7.1 × 10(-8)) for which the closest candidate genes (although ≥90 kb away) were zinc finger 469 (ZNF469) on 16q24.2 and collagen 5 alpha 1 (COL5A1) on 9q34.2, respectively. Only the ZNF469 association was confirmed in our replication set (824 individuals, P = 8.0 × 10(-4)) but COL5A1 remained a suggestive association in the combined sample (β = 0.16 SD, P = 1.1 × 10(-6)). Following a larger meta-analysis including recently published CCT GWAS summary data, COL5A1 was genome-wide significant (β = 0.13 SD, P = 5.1 × 10(-8)), together with two additional novel loci. The second new locus (defined by rs1034200) was 5 kb from the AVGR8 gene, encoding a putative transcription factor with typical ZNF and KRAB domains, in chromosomal region 13q12.11 (β = 0.14 SD, P = 3.5 × 10(-9)). The third new locus (rs6496932), on 15q25.3 (β = 0.13, P = 1.4 × 10(-8)), was within a wide linkage disequilibrium block extending into the 5' end of the AKAP13 gene, encoding a scaffold protein concerned with signal transduction from the cell surface. These associations offer mechanistic insights into the regulation of CCT and offer new candidate genes for susceptibility to common disorders in which CCT has been implicated, including primary open-angle glaucoma and keratoconus.

Izvorni jezik
Engleski

Znanstvena područja
Javno zdravstvo i zdravstvena zaštita



POVEZANOST RADA


Projekti:
216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Polašek, Ozren, MZOS ) ( POIROT)

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Zoran Vatavuk (autor)

Avatar Url Ozren Polašek (autor)

Avatar Url Igor Rudan (autor)

Avatar Url Ivana Kolčić (autor)

Avatar Url Lina Zgaga (autor)

Avatar Url Goran Benčić (autor)

Avatar Url Kajo Bućan (autor)

Avatar Url Grgo Gunjača (autor)

Poveznice na cjeloviti tekst rada:

doi hmg.oxfordjournals.org

Citiraj ovu publikaciju:

Vitart, Veronique; Bencić, Goran; Hayward, Caroline; Skunca Herman, Jelena; Huffman, Jennifer; Campbell, Susan; Bućan, Kajo; Navarro, Pau; Gunjaca, Grgo; Marin, Jelena et al.
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8 // Human molecular genetics, 19 (2010), 21; 4304-4311 doi:10.1093/hmg/ddq349 (međunarodna recenzija, članak, znanstveni)
Vitart, V., Bencić, G., Hayward, C., Skunca Herman, J., Huffman, J., Campbell, S., Bućan, K., Navarro, P., Gunjaca, G. & Marin, J. (2010) New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8. Human molecular genetics, 19 (21), 4304-4311 doi:10.1093/hmg/ddq349.
@article{article, author = {Vitart, Veronique and Benci\'{c}, Goran and Hayward, Caroline and Skunca Herman, Jelena and Huffman, Jennifer and Campbell, Susan and Bu\'{c}an, Kajo and Navarro, Pau and Gunjaca, Grgo and Marin, Jelena and Zgaga, Lina and Kol\v{c}i\'{c}, Ivana and Pola\v{s}ek, Ozren and Kirin, Mirna and Hastie, Nick and Wilson, Jim and Rudan, Igor and Campbell, Harry and Vatavuk, Zoran and Fleck, Bill and Wright, Alan}, year = {2010}, pages = {4304-4311}, DOI = {10.1093/hmg/ddq349}, keywords = {cornea, thickness, genome-wide}, journal = {Human molecular genetics}, doi = {10.1093/hmg/ddq349}, volume = {19}, number = {21}, issn = {0964-6906}, title = {New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8}, keyword = {cornea, thickness, genome-wide} }
@article{article, author = {Vitart, Veronique and Benci\'{c}, Goran and Hayward, Caroline and Skunca Herman, Jelena and Huffman, Jennifer and Campbell, Susan and Bu\'{c}an, Kajo and Navarro, Pau and Gunjaca, Grgo and Marin, Jelena and Zgaga, Lina and Kol\v{c}i\'{c}, Ivana and Pola\v{s}ek, Ozren and Kirin, Mirna and Hastie, Nick and Wilson, Jim and Rudan, Igor and Campbell, Harry and Vatavuk, Zoran and Fleck, Bill and Wright, Alan}, year = {2010}, pages = {4304-4311}, DOI = {10.1093/hmg/ddq349}, keywords = {cornea, thickness, genome-wide}, journal = {Human molecular genetics}, doi = {10.1093/hmg/ddq349}, volume = {19}, number = {21}, issn = {0964-6906}, title = {New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8}, keyword = {cornea, thickness, genome-wide} }

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


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