Association of vitamin D receptor gene polymorphisms with breast cancer risk in an Egyptian population

This study aimed to explore whether genetic polymorphisms in vitamin D receptor are correlated to the breast cancer prevalence in an Egyptian population. Polymerase chain reaction–restriction fragment polymorphism was used to genotype three frequently analyzed vitamin D receptor gene single-nucleoti...

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Main Authors: Haidan M El-Shorbagy, Nada H Mahmoud, Salwa Sabet
Format: Article
Language:English
Published: SAGE Publishing 2017-10-01
Series:Tumor Biology
Online Access:https://doi.org/10.1177/1010428317727738
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author Haidan M El-Shorbagy
Nada H Mahmoud
Salwa Sabet
author_facet Haidan M El-Shorbagy
Nada H Mahmoud
Salwa Sabet
author_sort Haidan M El-Shorbagy
collection DOAJ
description This study aimed to explore whether genetic polymorphisms in vitamin D receptor are correlated to the breast cancer prevalence in an Egyptian population. Polymerase chain reaction–restriction fragment polymorphism was used to genotype three frequently analyzed vitamin D receptor gene single-nucleotide polymorphisms (rs1544410, rs7975232, and rs731236) and were identified by sequencing analysis. This is the first study that recorded a new single-nucleotide polymorphism in ApaI genotype within an Egyptian population and was registered with the accession number KY859868. The authors found that TC in rs731236, and TG in KY859868 single-nucleotide polymorphism showed significant distribution differences with an increased risk of breast cancer ( p  < 0.05, odds ratio = 3.71, 95% confidence interval: 1.04–13.28 and p  < 0.001, odds ratio = 7.05, 95% confidence interval: 2.02–24, respectively) compared with the wild-type TT genotype carriers in both single-nucleotide polymorphisms. In addition, the distribution frequencies of haplotypes ACT, GTT, and ATT in the patients group were significant, where ATT haplotype was associated with the highest breast cancer risk among all other haplotypes in the patients group ( p  = 0.0023, odds ratio = 1.72, 95% confidence interval: 1.24–2.437). In conclusion, vitamin D receptors ApaI and TaqI confer high breast cancer susceptibility, particularly in Egyptians females carrying haplotype ATT. However, further studies focusing on the vitamin D receptor variants and haplotypes effects on vitamin D and vitamin D receptor concentrations, activities, and functionalities are needed.
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spelling doaj-art-026fcd54010a485eab540faf56e6676e2025-08-20T03:32:51ZengSAGE PublishingTumor Biology1423-03802017-10-013910.1177/1010428317727738Association of vitamin D receptor gene polymorphisms with breast cancer risk in an Egyptian populationHaidan M El-ShorbagyNada H MahmoudSalwa SabetThis study aimed to explore whether genetic polymorphisms in vitamin D receptor are correlated to the breast cancer prevalence in an Egyptian population. Polymerase chain reaction–restriction fragment polymorphism was used to genotype three frequently analyzed vitamin D receptor gene single-nucleotide polymorphisms (rs1544410, rs7975232, and rs731236) and were identified by sequencing analysis. This is the first study that recorded a new single-nucleotide polymorphism in ApaI genotype within an Egyptian population and was registered with the accession number KY859868. The authors found that TC in rs731236, and TG in KY859868 single-nucleotide polymorphism showed significant distribution differences with an increased risk of breast cancer ( p  < 0.05, odds ratio = 3.71, 95% confidence interval: 1.04–13.28 and p  < 0.001, odds ratio = 7.05, 95% confidence interval: 2.02–24, respectively) compared with the wild-type TT genotype carriers in both single-nucleotide polymorphisms. In addition, the distribution frequencies of haplotypes ACT, GTT, and ATT in the patients group were significant, where ATT haplotype was associated with the highest breast cancer risk among all other haplotypes in the patients group ( p  = 0.0023, odds ratio = 1.72, 95% confidence interval: 1.24–2.437). In conclusion, vitamin D receptors ApaI and TaqI confer high breast cancer susceptibility, particularly in Egyptians females carrying haplotype ATT. However, further studies focusing on the vitamin D receptor variants and haplotypes effects on vitamin D and vitamin D receptor concentrations, activities, and functionalities are needed.https://doi.org/10.1177/1010428317727738
spellingShingle Haidan M El-Shorbagy
Nada H Mahmoud
Salwa Sabet
Association of vitamin D receptor gene polymorphisms with breast cancer risk in an Egyptian population
Tumor Biology
title Association of vitamin D receptor gene polymorphisms with breast cancer risk in an Egyptian population
title_full Association of vitamin D receptor gene polymorphisms with breast cancer risk in an Egyptian population
title_fullStr Association of vitamin D receptor gene polymorphisms with breast cancer risk in an Egyptian population
title_full_unstemmed Association of vitamin D receptor gene polymorphisms with breast cancer risk in an Egyptian population
title_short Association of vitamin D receptor gene polymorphisms with breast cancer risk in an Egyptian population
title_sort association of vitamin d receptor gene polymorphisms with breast cancer risk in an egyptian population
url https://doi.org/10.1177/1010428317727738
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AT nadahmahmoud associationofvitamindreceptorgenepolymorphismswithbreastcancerriskinanegyptianpopulation
AT salwasabet associationofvitamindreceptorgenepolymorphismswithbreastcancerriskinanegyptianpopulation