Evaluación del desequilibrio de ligamiento entre los polimorfismos del gen CYP2D6 asociados a cáncer de mama en mujeres

Sergio Vladimir  Flores; Angel Roco-Videla; Raúl Aguilera-Eguía; Román Montaña

doi:10.56294/saludcyt2024904

Short communications

Published: 2024-04-30

DOI: https://doi.org/10.56294/saludcyt2024904

Evaluation of linkage disequilibrium between CYP2D6 gene polymorphisms associated with breast cancer in women

Abstract

Introduction: The CYP2D6 gene is highly polymorphic and is involved in the metabolism of a wide variety of drugs and xenobiotics. Three allelic variants of the gene (rs3892097, rs1065852 and rs28371725) have been studied in relation to breast cancer, but the degree of genetic linkage between them is unknown.
Aim: To test whether the three breast cancer-associated SNPs are inherited en bloc.
Methods: Genotypes of 280 SNPs of the CYP2D6 gene were obtained from the 1000Genomes database and linkage disequilibrium between the three breast cancer-associated SNPs and the other 277 SNPs in the gene was analysed. A threshold of r2= 0.7 was used to identify loci in linkage disequilibrium.
Results: A strong correlation was found between rs3892097 and rs1065852 in Europe and Latin America. In addition, eleven polymorphisms with a high level of linkage were identified, four of which have a non-synonymous mutation effect.
Conclusions: Both polymorphisms could have a causal effect on breast cancer or that one of them is associated by linkage. Continuing to study both polymorphisms and considering the eleven new polymorphisms for analysis would be of relevance to deepen knowledge in relation to breast cancer in women.

Keywords:

Population genetics,

SNP,

Linkage disequilibrium,

CYP2D6 gene,

Breast cancer,

How to Cite

Flores SV, Roco-Videla A, Aguilera-Eguía R, Montaña R. Evaluation of linkage disequilibrium between CYP2D6 gene polymorphisms associated with breast cancer in women. Salud, Ciencia y Tecnología [Internet]. 2024 Apr. 30 [cited 2024 Jul. 27];4:904. Available from: https://revista.saludcyt.ar/ojs/index.php/sct/article/view/904

Copyright Notice

The article is distributed under the Creative Commons Attribution 4.0 License. Unless otherwise stated, associated published material is distributed under the same licence.

Article metrics

Google scholar: See link

Metrics

Metrics Loading ...

Vol. 4 (2024)

See full issue

Revistas/Journals

Issue

About

Author Guidelines