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SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population
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 o...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774761/ https://www.ncbi.nlm.nih.gov/pubmed/24066093 http://dx.doi.org/10.1371/journal.pone.0074042 |
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author | Kirac, Iva Matošević, Petar Augustin, Goran Šimunović, Iva Hostić, Vedran Župančić, Sven Hayward, Caroline Antoljak, Natasa Rudan, Igor Campbell, Harry Dunlop, Malcolm G. Velimir Vrdoljak, Danko Kovačević, Dujo Zgaga, Lina |
author_facet | Kirac, Iva Matošević, Petar Augustin, Goran Šimunović, Iva Hostić, Vedran Župančić, Sven Hayward, Caroline Antoljak, Natasa Rudan, Igor Campbell, Harry Dunlop, Malcolm G. Velimir Vrdoljak, Danko Kovačević, Dujo Zgaga, Lina |
author_sort | Kirac, Iva |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3774761 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-37747612013-09-24 SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population Kirac, Iva Matošević, Petar Augustin, Goran Šimunović, Iva Hostić, Vedran Župančić, Sven Hayward, Caroline Antoljak, Natasa Rudan, Igor Campbell, Harry Dunlop, Malcolm G. Velimir Vrdoljak, Danko Kovačević, Dujo Zgaga, Lina PLoS One Research Article 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. Public Library of Science 2013-09-16 /pmc/articles/PMC3774761/ /pubmed/24066093 http://dx.doi.org/10.1371/journal.pone.0074042 Text en © 2013 Kirac et al http://creativecommons.org/licenses/by/4.0/ 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 properly credited. |
spellingShingle | Research Article Kirac, Iva Matošević, Petar Augustin, Goran Šimunović, Iva Hostić, Vedran Župančić, Sven Hayward, Caroline Antoljak, Natasa Rudan, Igor Campbell, Harry Dunlop, Malcolm G. Velimir Vrdoljak, Danko Kovačević, Dujo Zgaga, Lina SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population |
title | SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population |
title_full | SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population |
title_fullStr | SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population |
title_full_unstemmed | SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population |
title_short | SMAD7 Variant rs4939827 Is Associated with Colorectal Cancer Risk in Croatian Population |
title_sort | smad7 variant rs4939827 is associated with colorectal cancer risk in croatian population |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774761/ https://www.ncbi.nlm.nih.gov/pubmed/24066093 http://dx.doi.org/10.1371/journal.pone.0074042 |
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