Napredna pretraga

Pregled bibliografske jedinice broj: 648182

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations


O'Seaghdha, C.M.; ...; Zemunik, Tatijana; Boban, Mladen; Kolčić, Ivana; ...; Rudan, Igor; ...; Polašek, Ozren; ...; Bochud, M.
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations // Plos genetics, 9 (2013), e1003796-e1003796 doi:10.1371/journal.pgen.1003796 (međunarodna recenzija, članak, znanstveni)


Naslov
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations

Autori
O'Seaghdha, C.M. ; ... ; Zemunik, Tatijana ; Boban, Mladen ; Kolčić, Ivana ; ... ; Rudan, Igor ; ... ; Polašek, Ozren ; ... ; Bochud, M.

Izvornik
Plos genetics (1553-7390) 9 (2013); E1003796-e1003796

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

Ključne riječi
Calcium; genome-wide; gene

Sažetak
Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta- analysis of 39, 400 individuals from 17 population-based cohorts and investigated the 14 most strongly associated loci in ≤21, 679 additional individuals. Seven loci (six new regions) in association with serum calcium were identified and replicated. Rs1570669 near CYP24A1 (P = 9.1E-12), rs10491003 upstream of GATA3 (P =  4.8E-09) and rs7481584 in CARS (P = 1.2E-10) implicate regions involved in Mendelian calcemic disorders: Rs1550532 in DGKD (P = 8.2E-11), also associated with bone density, and rs7336933 near DGKH/KIAA0564 (P = 9.1E-10) are near genes that encode distinct isoforms of diacylglycerol kinase. Rs780094 is in GCKR. We characterized the expression of these genes in gut, kidney, and bone, and demonstrate modulation of gene expression in bone in response to dietary calcium in mice. Our results shed new light on the genetics of calcium homeostasis.

Izvorni jezik
Engleski

Napomena
SUNLIGHT consortium ; GEFOS consortium.



POVEZANOST RADA


Projekt / tema
216-1080315-0293 - Genetska epidemiologija šećerne bolesti tip 1 u populaciji Hrvatske (Tatijana Zemunik, )
216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Ozren Polašek, )

Ustanove
Medicinski fakultet, Split

Časopis indeksira:


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


Citati