SMAD7 variant rs4939827 is associated with colorectal cancer risk in Croatian population

Kirac, Iva and Matošević, Petar and Augustin, Goran and Šimunović, Iva and Hostić, Vedran and Župančić, Sven and Hayward, Caroline and Antoljak, Nataša and Rudan, Igor and Campbell, Harry and Dunlop, Malcolm G. and Vrdoljak, Danko Velimir and Kovačević, Dujo and Zgaga, Lina (2013) SMAD7 variant rs4939827 is associated with colorectal cancer risk in Croatian population. PLoS ONE, 8 (9). e74042. ISSN 1932-6203

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BACKGROUND: Twenty common genetic variants have been associated with risk of developing colorectal cancer (CRC) in genome wide association studies to date. Since large differences between populations exist, generalisability of findings to any specific population needs to be confirmed. ----- AIM: The aim of this study was to perform an association study between risk variants: rs10795668, rs16892766, rs3802842 and rs4939827 and CRC risk in Croatian population. ----- METHODS: An association study was performed on 320 colorectal cancer cases and 594 controls recruited in Croatia. We genotyped four variants previously associated with CRC: rs10795668, rs16892766, rs3802842 and rs4939827. ----- RESULTS: SMAD7 variant rs4939827 (18q21.1) was significantly associated with CRC risk in Croatian population. C allele was associated with a decreased risk, odds ratio (OR): 0.70 (95% CI: 0.57-0.85, P=3.5E-04). Compared to TT homozygotes, risk was reduced by 34% in heterozygotes (OR=0.66, 95% CI: 0.47-0.92) and by 52% in CC homozygotes (OR=0.48, 95% CI: 0.33-0.72). ----- CONCLUSION: Our results show association of rs4939827 with colorectal cancer risk in Croatian population. The higher strength of the association in comparison to other studies suggests population-specific environmental or genetic factors may be modifying the association. More studies are needed to further describe role of rs4939827 in CRC. Likely reason for failure of replication for other 3 loci is inadequate study power.

Item Type: Article
Additional Information: Copyright: © 2013 Kirac et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
MeSH: Aged ; Colorectal Neoplasms / genetics ; Croatia ; Female ; Genetic Predisposition to Disease / genetics ; Genetic Variation ; Genotype ; Heterozygote ; Humans ; Male ; Middle Aged ; Smad7 Protein / genetics
Departments: Katedra za kirurgiju
Katedra za medicinsku statistiku, epidemiologiju i medicinsku informatiku
Depositing User: Marijan Šember
Status: Published
Matošević, PetarUNSPECIFIED
Augustin, GoranUNSPECIFIED
Hayward, CarolineUNSPECIFIED
Antoljak, NatašaUNSPECIFIED
Campbell, HarryUNSPECIFIED
Dunlop, Malcolm G.UNSPECIFIED
Vrdoljak, Danko VelimirUNSPECIFIED
Kovačević, DujoUNSPECIFIED
Date: 16 September 2013
Date Deposited: 10 Feb 2014 13:37
Last Modified: 13 Jul 2020 10:19
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