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Association of CYP19 polymorphisms with breast cancer risk: A case-control study

BACKGROUND: The CYP19 gene is located on chromosome 15 and it plays an important role in aromatization, which results in production of estrogen from androgens. The mutation in this gene can result in either increased or decreased aromatase activity. MATERIALS AND METHODS: A case-control study was de...

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Autores principales: Surekha, Damineni, Sailaja, Kagitha, Rao, Dunna Nageswara, Padma, Tirunalai, Raghunadharao, Digumarthi, Vishnupriya, Satti
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121892/
https://www.ncbi.nlm.nih.gov/pubmed/25097392
http://dx.doi.org/10.4103/0976-9668.136150
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author Surekha, Damineni
Sailaja, Kagitha
Rao, Dunna Nageswara
Padma, Tirunalai
Raghunadharao, Digumarthi
Vishnupriya, Satti
author_facet Surekha, Damineni
Sailaja, Kagitha
Rao, Dunna Nageswara
Padma, Tirunalai
Raghunadharao, Digumarthi
Vishnupriya, Satti
author_sort Surekha, Damineni
collection PubMed
description BACKGROUND: The CYP19 gene is located on chromosome 15 and it plays an important role in aromatization, which results in production of estrogen from androgens. The mutation in this gene can result in either increased or decreased aromatase activity. MATERIALS AND METHODS: A case-control study was designed to compare 250 breast cancer cases with 250 age-matched healthy controls. The frequency distribution of CYP19 polymorphism was assessed by polymerase chain reaction confronting two pair primers (PCR-CTPP). RESULTS: CYP19 polymorphism at codon 39 Trp/Arg (W39R) results in three genotypes TT, TC, and CC, but in the present study CC genotype was not found in breast cancer cases as well as in controls. The TT genotype was significantly elevated in disease (90.8%) as compared to controls (68.5%). The frequency of TC was found to be increased in premenopausal women with breast cancer (12.2%) and the frequency of TT genotype was increased in patients who were postmenopausal (94.1%). The increased frequency of heterozygotes was found in cases with familial incidences of cancer (10.8%), estrogen and progesterone receptor positive status, node positive status (9.8%), and occupied in agriculture (14.8%). Higher frequencies of both TT and TC genotype were increased in patients with high body mass index (BMI). The frequency of TT genotype was found to be increased in advanced stage of the disease. CONCLUSION: Hence, we conclude that W39 with increased aromatase activity confers greater risk to develop breast cancer especially in postmenopausal women and might also contribute to advanced stage.
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spelling pubmed-41218922014-08-05 Association of CYP19 polymorphisms with breast cancer risk: A case-control study Surekha, Damineni Sailaja, Kagitha Rao, Dunna Nageswara Padma, Tirunalai Raghunadharao, Digumarthi Vishnupriya, Satti J Nat Sci Biol Med Original Article BACKGROUND: The CYP19 gene is located on chromosome 15 and it plays an important role in aromatization, which results in production of estrogen from androgens. The mutation in this gene can result in either increased or decreased aromatase activity. MATERIALS AND METHODS: A case-control study was designed to compare 250 breast cancer cases with 250 age-matched healthy controls. The frequency distribution of CYP19 polymorphism was assessed by polymerase chain reaction confronting two pair primers (PCR-CTPP). RESULTS: CYP19 polymorphism at codon 39 Trp/Arg (W39R) results in three genotypes TT, TC, and CC, but in the present study CC genotype was not found in breast cancer cases as well as in controls. The TT genotype was significantly elevated in disease (90.8%) as compared to controls (68.5%). The frequency of TC was found to be increased in premenopausal women with breast cancer (12.2%) and the frequency of TT genotype was increased in patients who were postmenopausal (94.1%). The increased frequency of heterozygotes was found in cases with familial incidences of cancer (10.8%), estrogen and progesterone receptor positive status, node positive status (9.8%), and occupied in agriculture (14.8%). Higher frequencies of both TT and TC genotype were increased in patients with high body mass index (BMI). The frequency of TT genotype was found to be increased in advanced stage of the disease. CONCLUSION: Hence, we conclude that W39 with increased aromatase activity confers greater risk to develop breast cancer especially in postmenopausal women and might also contribute to advanced stage. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4121892/ /pubmed/25097392 http://dx.doi.org/10.4103/0976-9668.136150 Text en Copyright: © Journal of Natural Science, Biology and Medicine http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Surekha, Damineni
Sailaja, Kagitha
Rao, Dunna Nageswara
Padma, Tirunalai
Raghunadharao, Digumarthi
Vishnupriya, Satti
Association of CYP19 polymorphisms with breast cancer risk: A case-control study
title Association of CYP19 polymorphisms with breast cancer risk: A case-control study
title_full Association of CYP19 polymorphisms with breast cancer risk: A case-control study
title_fullStr Association of CYP19 polymorphisms with breast cancer risk: A case-control study
title_full_unstemmed Association of CYP19 polymorphisms with breast cancer risk: A case-control study
title_short Association of CYP19 polymorphisms with breast cancer risk: A case-control study
title_sort association of cyp19 polymorphisms with breast cancer risk: a case-control study
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121892/
https://www.ncbi.nlm.nih.gov/pubmed/25097392
http://dx.doi.org/10.4103/0976-9668.136150
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