Genetic Polymorphisms of Vitamin D Receptor (VDR), CYP27B1 and CYP24A1 Genes and the Risk of Colorectal Cancer

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

doi:10.5301/jbm.5000248

Cited by 35 publications

(37 citation statements)

References 23 publications

(39 reference statements)

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“…Our data suggest a protective role of the T allele (for TT vs. GT + GG: OR = 2.94; 95% CI 1.77-4.86; p < 0.0001) and the TT genotype (for GT vs. TT: OR = 2.56; 95% CI 1.23-5.32; p = 0.01; for GG vs. TT: OR = 3.20; 95% CI 1.51-6.77; p = 0.002). Contrary to our findings, Vidigal et al (whose study was based in Brazil) indicate that in the male population the presence of T allele increases the risk of CRC by 1.60-fold (p = 0.037), while the presence of GT genotype-by 2.04-fold (p = 0.014) [20]. The MAF in Latin Americans is similar to the MAF in Europeans, but the difference could cause the discrepancies in results between the papers [19].…”

Section: Discussioncontrasting

confidence: 99%

“…The MAF in Latin Americans is similar to the MAF in Europeans, but the difference could cause the discrepancies in results between the papers [19]. For males and females, the association of GT+TT vs. GG caused a 2.14-fold greater risk for neoplasia (p = 0.003) [20]. Comparison of GG vs. TT in the whole population: we obtained a 3.20-times (p = 0.002) higher risk of CRC, whereas for Vidigal et al's population the result was not statistically significant (p = 0.412) [20].…”

Section: Discussionmentioning

confidence: 93%

“…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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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 93%

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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“…Vitamin D plays a crucial role in the pathogenesis of colorectal cancer and epidemiological research has put forth evidence that vitamin D plays a protective role against colorectal cancer (50). The role of polymorphisms of VDR and CYP27B2 and CYP24A1, which are involved in the production and suppression of vitamin D, have all been linked to colorectal cancer risk (51 (52). Another study in Japan found an association between common genetic variations in VDR and risk of colorectal cancer.…”

Section: Prostate Cancermentioning

confidence: 99%

Vitamin D Receptor Polymorphism and Cancer: An Update

Rai

Abdo

Agrawal

et al. 2017

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“…показало, что генотип Aa и ассо-циации генотипов aa + Aa ApaI полиморфизма гена VDR повышали риск колоректального рака. BsmI полиморфизм не был ассоциирован с риском данно-го заболевания [28].…”

Section: обзоры литературыunclassified

Significance of Gene Polymorphism of Vitamin D Receptor in Human Pathology

Бухалко¹,

Скрипченко²,

Скрипченко³

et al. 2017

Ross. vestn. perinatol. pediatr.

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Долгое время с момента открытия в 1913 г. ви-тамин D рассматривался только с точки зре-ния фосфорно-кальциевого обмена. Результаты многочисленных исследований последних лет показали, что витамин D в виде его гормональ-но-активной формы 1,25-дигидроксихолекальци-ферола или кальцитриола (1,25(ОH) 2 D) имеет ряд не связанных с костной системой эффектов. Био-логическое действие (эндокринное, аутокринное, паракринное) 1,25(ОН) 2 D реализуется путем свя-зывания с рецепторами витамина D, которые лока-лизованы в большинстве клеток и тканей организ-ма, таких как кости, почки, кишечник, иммунная система (Т-клетки, макрофаги и моноциты), ре-продуктивная система (матка, яички, яичники, предстательная железа, плацента и молочные же-лезы), эндокринная система (поджелудочная желе-за, гипофиз, щитовидная железа и надпочечники), © Коллектив авторов, 2017Адрес для корреспонденции: Бухалко Марина Александровна -аспирант отдела нейроинфекций и органической патологии нервной системы Детского научно-клинического центра инфекционных болезней у детей; старший лаборант кафедры инфекционных болезней Санкт-Петербург-ского государственного педиатрического медицинского университета Скрипченко Наталья Викторовна -засл. деятель науки РФ, д.м.н. проф., зам. директора Детского научно-клинического центра инфекционных бо-лезней у детей; зав. кафедрой инфекционных заболеваний у детей 197022 Санкт-Петербург, ул. Профессора Попова, д. 9, ORCID: 0000-0001-8927-3176 Скрипченко Елена Юрьевна -к.м.н., ст. н.с. отдела нейроинфекций и ор-ганической патологии нервной системы Детского научно-клинического центра инфекционных болезней у детей; доц. кафедры психоневрологии Санкт-Петербургского государственного педиатрического медицинского университета; зав. детским неврологическим отделением Институт мозга человека им. Н.П.Бехтеревой Имянитов Евгений Наумович -чл.-корр. РАН, д.м.н. проф., зав. кафедрой общей и молекулярной медицинской генетики Санкт-Петербургского го-сударственного педиатрического медицинского университета; зав. отделом биологии опухолевого роста НИИ онкологии им. Н.Н. Петрова 194100 Санкт-Петербург, Литовская ул., д.2 62:(6): 23-28. DOI: 10.21508/1027 62:(6): 23-28. DOI: 10.21508/ -4065-2017 The literature review presents information on the role of gene polymorphism of vitamin D receptor in human pathology. According to modern data, vitamin D is a hormone which has numerous pleiotropic effects on the human body by binding to its specific receptors (VDR). These effects can greatly determine the role of vitamin D in the occurence and the course of a number of widespread diseases of a modern man, including infectious pathology, autoimmune diseases, neuropsychiatric disorders. Special importance is currently attached to the receptor gene of vitamin D, VDR, which is characterized by a genetic polymorphism that can determine the features of implementation of the biological effects of calcitriol in the human body. The article presents the review data supporting the contribution of certain single nucleotide polymorphisms of gene VDR in the formatio...

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Genetic Polymorphisms of Vitamin D Receptor (VDR), CYP27B1 and CYP24A1 Genes and the Risk of Colorectal Cancer

Abstract: Dietary habits, lifestyle, and polymorphisms in VDR (ApaI), CYP24A1 (rs6013897, rs158552, rs17217119) and CYP27B1 (rs10877012) were associated with a higher risk of CRC.

Cited by 35 publications

References 23 publications

CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

Vitamin D Receptor Polymorphism and Cancer: An Update

Significance of Gene Polymorphism of Vitamin D Receptor in Human Pathology

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