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Pregled bibliografske jedinice broj: 732849

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.


Wolber, Lisa; Girotto, Giuglia; Buniello, Ana; Vuckovic, Dijana; Pirastu, Nicola; Lorente-Cánovas B; Polašek, Ozren; Ciullo, Marina; Mangino, Massimo; Spector, Tim; Gasparini, Paolo
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. // Human molecular genetics, 23 (2014), 23; 6407-6418 doi:10.1093/hmg/ddu346 (međunarodna recenzija, članak, znanstveni)


Naslov
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.

Autori
Wolber, Lisa ; Girotto, Giuglia ; Buniello, Ana ; Vuckovic, Dijana ; Pirastu, Nicola ; Lorente-Cánovas B ; Polašek, Ozren ; Ciullo, Marina ; Mangino, Massimo ; Spector, Tim ; Gasparini, Paolo

Izvornik
Human molecular genetics (0964-6906) 23 (2014), 23; 6407-6418

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

Ključne riječi
Gene ; SNP ; hearnig

Sažetak
Hearing function is known to be heritable, but few significant and reproducible associations of genetic variants have been identified to date in the adult population. In this study, genome-wide association results of hearing function from the G-EAR consortium and TwinsUK were used for meta-analysis. Hearing ability in eight population samples of Northern and Southern European ancestry (n = 4591) and the Silk Road (n = 348) was measured using pure-tone audiometry and summarized using principal component (PC) analysis. Genome-wide association analyses for PC1-3 were conducted separately in each sample assuming an additive model adjusted for age, sex and relatedness of subjects. Meta-analysis was performed using 2.3 million single-nucleotide polymorphisms (SNPs) tested against each of the three PCs of hearing ability in 4939 individuals. A single SNP lying in intron 6 of the salt-inducible kinase 3 (SIK3) gene was found to be associated with hearing PC2 (P = 3.7×10(-8)) and further supported by whole-genome sequence in a subset. To determine the relevance of this gene in the ear, expression of the Sik3 protein was studied in mouse cochlea of different ages. Sik3 was expressed in murine hair cells during early development and in cells of the spiral ganglion during early development and adulthood. Our results suggest a developmental role of Sik3 in hearing and may be required for the maintenance of adult auditory function.

Izvorni jezik
Engleski



POVEZANOST RADA


Projekt / tema
216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Ozren Polašek, )

Ustanove
Medicinski fakultet, Split

Autor s matičnim brojem:
Ozren Polašek, (271725)

Citiraj ovu publikaciju

Wolber, Lisa; Girotto, Giuglia; Buniello, Ana; Vuckovic, Dijana; Pirastu, Nicola; Lorente-Cánovas B; Polašek, Ozren; Ciullo, Marina; Mangino, Massimo; Spector, Tim; Gasparini, Paolo
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. // Human molecular genetics, 23 (2014), 23; 6407-6418 doi:10.1093/hmg/ddu346 (međunarodna recenzija, članak, znanstveni)
Wolber, L., Girotto, G., Buniello, A., Vuckovic, D., Pirastu, N., Lorente-Cánovas B, Polašek, O., Ciullo, M., Mangino, M., Spector, T. & Gasparini, P. (2014) Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.. Human molecular genetics, 23 (23), 6407-6418 doi:10.1093/hmg/ddu346.
@article{article, year = {2014}, pages = {6407-6418}, DOI = {10.1093/hmg/ddu346}, keywords = {gene, SNP, hearnig}, journal = {Human molecular genetics}, doi = {10.1093/hmg/ddu346}, volume = {23}, number = {23}, issn = {0964-6906}, title = {Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.}, keyword = {gene, SNP, hearnig} }

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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