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Polymorphisms PSCA rs2294008, IL-4 rs2243250 and MUC1 rs4072037 are associated with gastric cancer in a high risk population

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Abstract

Genetic variants are considered risk factors for gastric cancer. To date, 61 polymorphisms have been identified as associated with this disease. The aim of the present study was to analyze the association of some of those polymorphisms with GC in Chile. We performed a case-control study including 310 gastric cancer cases and 311 controls to assess the association of 36 single-nucleotide polymorphisms genotyped by Global Screening Array (GSA). Three polymorphisms was significantly associated: PSCA rs2294008 (allele model, OR = 1.49, 95%CI 1.17–1.88, P = 1.08 × 10–3), IL-4 rs2243250 (allele model, OR = 1.28, 95%CI 1.01–1.62, P = 0.04), and MUC1 rs4072037 (allele model, OR = 0.78, 95%CI 0.61–0.99, P = 0.04).PSCA rs2294008, IL-4 rs2243250 and MUC1 rs4072037 are associated with gastric cancer in Chile. It suggests that those polymorphisms could be used as biomarkers to assess the genetic risk for this cancer outside of the previously studied populations, not only for East Asians and Caucasians populations.

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Acknowledgments

The authors would like to acknowledge BSc Tracy Wormwood for her help in proofreading the manuscript, and Susana Escandar for her assistance in collecting samples from control group.

Funding

This work was partially supported by the Fondo Nacional de Desarrollo Científico y Tecnológico -Chile- (FONDECYT) under Grant #1151015, CONICYT Scolarship 21160297 for National Doctorate and FONDEF D10E1007.

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Authors and Affiliations

  1. Human Genetics Program, Institute of Biomedical Sciences (ICBM), School of Medicine, University of Chile, Santiago, Chile

    Patricio Gonzalez-Hormazabal, Rocío Retamales-Ortega, V. Gonzalo Castro, Lilian Jara & Ricardo A. Verdugo

  2. Department of Surgery, University of Chile Clinical Hospital, Santiago, Chile

    Maher Musleh, Hector Valladares & Enrique Lanzarini

  3. Department of Surgery, School of Medicine at Eastern Campus, University of Chile, Santiago, Chile

    Marco Bustamante

  4. Department of Surgery, San Juan de Dios Hospital, Santiago, Chile

    Juan Stambuk & Raul Pisano

  5. Department of Surgery, Barros Luco Hospital, Santiago, Chile

    Hector Chiong

  6. Institute for Research in Dental Sciences, School of Dentistry, University of Chile, Santiago, Chile

    Jose Suazo

  7. Department of Basic-Clinical Oncology, School of Medicine, University of Chile, Santiago, Chile

    Luis A. Quiñones, Nelson M. Varela & Ricardo A. Verdugo

  8. Latin American Network for Implementation and Validation of Clinical Pharmacogenomics Guidelines (RELIVAF-CYTED), Madrid, Spain

    Luis A. Quiñones & Nelson M. Varela

  9. Department of Gastroenterology, University of Chile Clinical Hospital, Santiago, Chile

    Zoltan Berger

Authors
  1. Patricio Gonzalez-Hormazabal
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  2. Rocío Retamales-Ortega
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  3. Maher Musleh
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  4. Marco Bustamante
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  5. Juan Stambuk
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  6. Raul Pisano
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  7. Hector Valladares
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  8. Enrique Lanzarini
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  9. Hector Chiong
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  10. Jose Suazo
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  11. Luis A. Quiñones
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  12. Nelson M. Varela
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  13. V. Gonzalo Castro
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  14. Lilian Jara
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  15. Ricardo A. Verdugo
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  16. Zoltan Berger
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Contributions

PG-H conceived, designed the analysis, performed statistical analyses and wrote the draft manuscript; RR-O and RAV performed statistical analyses; MM, MB, JSt, RP, HV, EL, HC, JSu, LAQ, NMV and ZB collected samples and clinicopathological data, MM cured and analyzed clinicopathological data, DP, LJ and VGC: Performed and contributed to laboratory procedures; PG-H supervised. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Patricio Gonzalez-Hormazabal.

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The authors declare that they have no conflict of interest.

Ethical approval

This study was approved by the institutional review board of University of Chile School of Medicine (#045/2015).

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Gonzalez-Hormazabal, P., Retamales-Ortega, R., Musleh, M. et al. Polymorphisms PSCA rs2294008, IL-4 rs2243250 and MUC1 rs4072037 are associated with gastric cancer in a high risk population. Mol Biol Rep 47, 9239–9243 (2020). https://doi.org/10.1007/s11033-020-05943-0

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  • DOI: https://doi.org/10.1007/s11033-020-05943-0

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