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

Abstract

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.

Potential interplay between tumor size and vitamin D receptor (VDR) polymorphisms in breast cancer prognosis: a prospective cohort study

“…The frequencies of the different SNP genotypes in our study were similar to the distributions in other studies based on people with European background for Taq1, Bsm1, and Fok1 [ 19 – 21 ] and based on Pakistani women for Tru91 [ 30 ]. The frequencies of the SNPs also match the 1,000 genomes European reference distribution in the National Library of Medicine [ 41 – 44 ].…”

“…Interestingly, the Bsm1 polymorphism has been associated with both higher and lower risk of breast cancer in a Caucasian cohort and a Hispanic cohort respectively [ 29 , 32 ]. Only one study has investigated the Tru91 polymorphism and found an association with premenopausal breast cancer in Pakistani women [ 30 ]. The Taq1 polymorphism has on the other hand been properly investigated and four studies on Caucasian and Turkish women reported no association of the polymorphism with breast cancer risk [ 19 , 21 , 28 , 31 ].…”

The impact of circulating 25-hydroxyvitamin D and vitamin D receptor variation on leukemia-lymphoma outcome: Molecular and cytogenetic study

“…Very few studies have been conducted that examine the relationship between Tru9I and cancer, such as colorectal carcinoma, breast cancer, and prostate cancer. One previous study showed that genotype AA can be correlated with an increased risk of breast cancer but, however, has a negative role in prostate cancer ( Iqbal et al, 2018 ). We have hypothesized that VDR gene polymorphism may be an important factor in the risk of disease and the response to treatment in patients with HM.…”

Association of Vitamin D Receptor Gene Polymorphisms With the Evolution of MODY Diabetes: Study in Tunisian Patients

“…You-Ling et al (2005) have not shown any association between the Tru9I polymorphism and the risk for incident sporadic colorectal adenoma. No association was observed with type 1 diabetes in the Dalmatian population (Tatijana et al, 2005) and in Caucasian populations (Balazs et al, 2002), with the nephrolithiasis in a Turkish population (Omer et al, 2016), not with the risk of premenopausal breast cancer in Pakistan (Iqbal et al, 2018).…”