Genetic Polymorphisms of Vitamin D Metabolism Genes and Serum Level of Vitamin D in Colorectal Cancer

Vidigal, Verônica Marques; Aguiar, Pedro Nazareth; Silva, Tiago Donizetti; Oliveira, Juliana de; Pimenta, Célia Aparecida Marques; Felipe, Aledson Vitor; Forones, Nora Manoukian

doi:10.5301/ijbm.5000282

Cited by 10 publications

(6 citation statements)

References 23 publications

(22 reference statements)

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“…We found no evidence for VDR polymorphisms acting as major modifiers of the association between 25(OH)D concentrations and hernia/discopathy or osteochondrosis. Our data partially concurs with that of Marques Vidigal V et al [ 33 ].…”

Section: Discussionsupporting

confidence: 93%

High Levels of Circulating Type II Collagen Degradation Marker (CTx-II) Are Associated with Specific VDR Polymorphisms in Patients with Adult Vertebral Osteochondrosis

Cauci

Viganò

Luca

et al. 2017

IJMS

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Both vitamin D and collagen have roles in osteocartilaginous homeostasis. We evaluated the association between the circulating 25-hydroxyvitamin D (25(OH)D), type I and II collagen degradation products (CTx-I, and CTx-II), and four vitamin D receptor gene (VDR) polymorphisms, in Italian males affected by low back pain (LBP) due to herniation/discopathy and/or vertebral osteochondrosis. FokI, BsmI, ApaI, and TaqI VDR-polymorphisms were detected through PCR–restriction fragment length polymorphism (RFLP), and circulating 25(OH)D, CTx-I and CTx-II were measured by immunoassays in 79 patients (of which 26 had osteochondrosis) and 79 age-, sex- and body mass index (BMI)-matched healthy controls. Among all 158 subjects, carriers of FF and Ff genotypes showed lower 25(OH)D than ff, which suggested a higher depletion of vitamin D in F allele carriers. Higher CTx-I concentrations were observed in TT versus Tt among controls, and Tt versus tt among LBP cases, which suggested a higher bone-cartilaginous catabolism in subjects bearing the T allele. Higher CTx-II concentrations were observed in patients with osteochondrosis bearing FF, bb, TT, or Aa genotypes in comparison with hernia/discopathy patients and healthy controls. Vertebral osteochondrosis shows peculiar genotypic and biochemical features related to vitamin D and the osteocartilaginous metabolism. Vitamin D has roles in the pathophysiology of osteochondrosis.

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Section: Discussionsupporting

confidence: 93%

High Levels of Circulating Type II Collagen Degradation Marker (CTx-II) Are Associated with Specific VDR Polymorphisms in Patients with Adult Vertebral Osteochondrosis

Cauci

Viganò

Luca

et al. 2017

IJMS

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“…[ 15 ],[ 16 ],[ 17 ],[ 18 ],[ 19 ],[ 20 ],[ 21 ],[ 22 ] Furthermore, many studies underscored the association between the low serum VD levels and many other diseases such as diabetic retinopathy, migraine, bladder carcinoma, and colorectal cancer. [ 23 ],[ 24 ],[ 25 ],[ 26 ]…”

Section: Introductionmentioning

confidence: 99%

Vitamin D deficiency in elderly: Risk factors and drugs impact on vitamin D status

Kweder¹,

Eidi

2018

Avicenna J Med

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Introduction:Vitamin D (VD) deficiency is a major public health problem worldwide. In spite of its high prevalence, particularly among elderly people, VD deficiency is still underestimated by many physicians. Increasingly, VD deficiency is associated with several known geriatric syndromes.Methods:The study sample consisted of 125 patients, aged 75 years and older, admitted to the acute geriatric unit. The plausible association between the serum 25-hydroxyvitamin D [25(OH)D] level and patient age, sex, body mass index, renal function, cholecystectomy history, and the prescribed drugs had been investigated. The Fisher's exact test was used to conduct the statistical analysis of data.Results:Surprisingly, furosemide treatment was correlated with normal 25(OH)D levels and an increased incidence of secondary hyperparathyroidism. Unlike the other four parameters mentioned above, our data showed that only the patient sex exhibited a significant association with 25(OH)D level as elderly males suffered from a serious VD deficiency as compared to elderly females.Conclusion:Old age is an independent risk factor for VD deficiency. The supplementary dose of VD should be precisely defined to achieve the optimal serum 25(OH)D level in elderly people. The definition of the normal serum 25(OH)D threshold in elderly furosemide-treated patients is worth of further studies.

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“…After the demonstration that intestinal cells are capable of converting vitamin D into active paracrine and autocrine forms [6], the influence of CYP27B1 polymorphism on vitamin D has become a potential subject of research for determining the risk of colon cancer occurrence. Moreover, a few papers have shown that genetic variants at the rs10877012 polymorphic site in CYP27B1 affect the serum vitamin D level [22,23,34,35], but still, the question remains as to how the rs10877012 polymorphism influences intestinal carcinogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…It is worth mentioning that numerous studies link the rs10877012 polymorphism to 25(OH)D levels [22,23,34,35]. The plasma level of 25(OH)D has been established as an indicator of the vitamin D status in the organism [10].…”

Section: Discussionmentioning

confidence: 99%

“…The reference allele is G, while the alternative allele is T. The minor allele frequency (MAF) oscillates around 27.83% (TopMed study, global population) [19]. Nevertheless, it has been linked directly to CRC occurrence [20,21], and also indirectly due to its influence on the level of 25(OH)D circulating in the blood [22,23]. However, others do not confirm this indirect association [24][25][26].…”

Section: Introductionmentioning

confidence: 99%

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CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

et al. 2020

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Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression sites and, as a consequence, they are capable of converting pro-vitamin D into the active paracrine and autocrine forms. It was demonstrated that rs10877012 polymorphism in the CYP27B1 gene influenced the circulating vitamin D level. This provided a rationale for determining the role that this polymorphism plays in the risk of developing colon cancer. In this study, we investigated the association of rs10877012 (T/G) polymorphism in the CYP27B1 gene with CRC susceptibility. The study population (n = 325) included CRC patients (n = 106) and healthy controls (n = 219). DNA was extracted from peripheral leukocytes and analyzed for the CYP27B1 polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We found an association between the presence of the T allele at the polymorphic site (odds ratio (OR) = 2.94; 95% CI 1.77–4.86; p < 0.0001) and a decreased CRC incidence.

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Genetic Polymorphisms of Vitamin D Metabolism Genes and Serum Level of Vitamin D in Colorectal Cancer

Cited by 10 publications

References 23 publications

High Levels of Circulating Type II Collagen Degradation Marker (CTx-II) Are Associated with Specific VDR Polymorphisms in Patients with Adult Vertebral Osteochondrosis

High Levels of Circulating Type II Collagen Degradation Marker (CTx-II) Are Associated with Specific VDR Polymorphisms in Patients with Adult Vertebral Osteochondrosis

Vitamin D deficiency in elderly: Risk factors and drugs impact on vitamin D status

CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

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