Association between VDR Gene Polymorphisms (rs 1544410, rs 7975232, rs 2228570, rs 731236 and rs 11568820) and Susceptibility to Breast Cancer in a Sample of Southeastern Iranian Population

Hashemi, Seyed Mehdi; Arbabi, Narges; Mashhadi, Mohammad Ali; Allahyari, Abolghasem; Sadeghi, Masoud

doi:10.5812/ijcm.8807

Cited by 11 publications

(18 citation statements)

References 29 publications

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“…Evidence indicates that the VDR mediates most of the activities of vitamin D. Analyses of common VDR SNPs ( Fok 1, Bsm 1, Apa 1, Taq 1, and Poly -A) show associations between VDR SNPs and BC, although the results are inconsistent among different types of exposure. 20 , 22 , 33 , 34 The Fok 1 ‘ff’ genotype may increase the risk of BC. 35 , 36 However, evidence suggests that Fok 1 significantly correlates with human epidermal growth factor receptor 2 status 20 and is significantly associated with estrogen receptor status of patients with BC.…”

Section: Discussionmentioning

confidence: 99%

“… 20 , 22 , 33 , 34 The Fok 1 ‘ff’ genotype may increase the risk of BC. 35 , 36 However, evidence suggests that Fok 1 significantly correlates with human epidermal growth factor receptor 2 status 20 and is significantly associated with estrogen receptor status of patients with BC. 37 One study shows that the Bsm 1 ‘b’ allele is associated with risk of BC; 20 although another study reports the opposite results.…”

Section: Discussionmentioning

confidence: 99%

“… 35 , 36 However, evidence suggests that Fok 1 significantly correlates with human epidermal growth factor receptor 2 status 20 and is significantly associated with estrogen receptor status of patients with BC. 37 One study shows that the Bsm 1 ‘b’ allele is associated with risk of BC; 20 although another study reports the opposite results. 22 To our knowledge, the present study is the first to determine the association of the low penetrance VDR Tru 9I polymorphism with premenopausal BC.…”

Section: Discussionmentioning

confidence: 99%

“… 21 Bsm 1 and Cdx 2 polymorphisms are significantly associated with women with BC living in Southeastern Iran. 20 The Fok1 SNP in BC plays a protective role, whereas the Bsm1 SNP is not associated with BC among women living in the Iranian city of Urmia. 22 Among Egyptian women, the Bsm 1 “B” allele and “Bb” variants of VDR may represent a risk factor for susceptibility to the development of BC.…”

Section: Introductionmentioning

confidence: 95%

“…There are many polymorphic regions in VDR , among which Fok 1, Bsm 1, Apa 1, and Taq 1 are the most extensively studied in American (Hispanic white, nonhispanic white, and Caucasian) and Asians (Iranian and Egyptian) populations. 19 – 24 Attention focuses on the role of single nucleotide polymorphisms (SNPs) in VDR that are associated with the development of a wide range of pathological conditions, including type 2 diabetes mellitus, prostate cancer, and BC 18 – 20 . However, limited studies are available on the Pakistani population.…”

Section: Introductionmentioning

confidence: 99%

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Association of low penetrance vitamin D receptor Tru9I (rs757343) gene polymorphism with risk of premenopausal breast cancer

2018

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ObjectiveThe aim of this study was to determine whether a novel polymorphism (Tru9I) in the low penetrance vitamin D receptor (VDR) gene is associated with risk of premenopausal breast cancer (BC).MethodsThis case-control study included 228 patients with BC and 503 healthy women living in Pakistan who were analyzed for the VDR Tru9I (rs757343) single nucleotide polymorphism. BC cases were histopathologically confirmed, and all healthy controls were age-matched with patients (age range, 20–45 years). DNA was extracted, and the polymerase chain reaction and restriction fragment length polymorphism assays were performed.ResultsThe VDR Tru9I polymorphism was not significantly associated with premenopausal BC. However, the risk of BC was associated with the ‘uu’ genotype (odds ratio [OR], 1.141; 95% confidence interval [95% CI], 0.206–6.317). Further, mutant Tru9I was significantly associated with Grade IV carcinoma (OR, 5.36; 95% CI, 1.181–24.338).ConclusionThe VDR Tru9I ‘uu’ genotype may increase the risk of premenopausal BC.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

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Association of low penetrance vitamin D receptor Tru9I (rs757343) gene polymorphism with risk of premenopausal breast cancer

2018

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Associations of vitamin D receptor encoding gene variants with premenopausal breast cancer risk

Iqbal

Maqbool

Khan

2023

American J Hum Biol

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Objective This study evaluates whether vitamin D receptor (VDR) gene variations are associated with premenopausal breast cancer in Pakistani cohorts. Methods Genomic DNA was isolated from 228 breast cancer patients and 500 non‐cancer controls. Six polymorphic variants (rs11568820, rs4516035, rs2228570, rs1544410, rs7975232, rs731236) of the VDR gene were genotyped using PCR‐RFLP analysis. All statistical analysis was carried out on IBM‐SPSS 23 at p‐value <.05. Chi‐square test and odds ratios (ORs) along with 95% confidence interval (CIs) were applied to evaluate the relationship between VDR gene polymorphisms and breast cancer. Results Results showed that the A/A genotype of EcoRV (OR = 2.125, 95% CI = 1.024 to 4.412) and the A/a genotype of Apa1 (OR = 6.094, 95%CI = 4.111 to 9.033) gene polymorphism had an increased risk of premenopausal breast cancer. No associations of the Bsm1 and Taq1 polymorphisms were observed in premenopausal women. Moreover, the Cdx2 GG (OR = 0.34, 95%CI = 0.192–0.602) genotype had a significant protective effect on breast cancer. However, strong LD was existed between Bsm1/Taq1 (D′ = 0.757, CI = 0.67–0.82) and Apa1/Taq1 (D′ = 0.695, CI = 0.6–0.77). Haplotype analysis showed no association between premenopausal breast cancer and VDR haplotypes. Conclusion These analyses indicates that the VDR EcoRV A/A and Apa1 A/a genotypes may be risk factors for breast cancer development among premenopausal women.

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Vitamin D and breast cancer risk: A systematic review and meta-analysis in Iranian patients

Bakhshaiesh

Nazeri

Jafarbeik-Iravani

et al. 2022

Annals of Medicine &Amp; Surgery

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Association between VDR Gene Polymorphisms (rs 1544410, rs 7975232, rs 2228570, rs 731236 and rs 11568820) and Susceptibility to Breast Cancer in a Sample of Southeastern Iranian Population

Cited by 11 publications

References 29 publications

Association of low penetrance vitamin D receptor Tru9I (rs757343) gene polymorphism with risk of premenopausal breast cancer

Association of low penetrance vitamin D receptor Tru9I (rs757343) gene polymorphism with risk of premenopausal breast cancer

Associations of vitamin D receptor encoding gene variants with premenopausal breast cancer risk

Vitamin D and breast cancer risk: A systematic review and meta-analysis in Iranian patients

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