Marques Vidigal Verônica, Aguiar Junior Pedro Nazareth, Donizetti Silva Tiago, de Oliveira Juliana, Marques Pimenta Célia Aparecida, Vitor Felipe Aledson, Manoukian Forones Nora
Oncology Division, Gastroenterology Department, Federal University of São Paulo, São Paulo - Brazil.
Int J Biol Markers. 2017 Oct 31;32(4):e441-e446. doi: 10.5301/ijbm.5000282.
The metabolism of vitamin D is complex, its receptor (VDR) and proteins encoded by the genes CYP27B2 and CYP24A1 can influence vitamin D serum levels. The aim of this study was to investigate the relationship of the polymorphisms of VDR (ApaI and BsmI), CYP27B1 and CYP24A1 with serum vitamin D levels in both forms, 25(OH)D3 (circulating form) and 1,25(OH)2D3 (active form), in colorectal cancer (CRC) patients.
One hundred fifty-two CRC patients and 321 controls were included. DNA was extracted from peripheral blood. Polymorphisms of BsmI and ApaI were identified by PCR-RFLP. Those of CYP24A1 (rs6013897, rs158552 and rs17217119) and CYP27B1 (rs10877012) were determined by gene sequencing.
The median serum levels of circulating vitamin D were not different between CRC patients and controls; however, the percentage of those with deficient vitamin D was higher in patients with cancer. The active form of the vitamin D was higher in CRC patients. VDR, CYP27B1 and CYP24A1 polymorphic genotypes had no influence on serum levels of circulating vitamin D. The correlation between circulating and active vitamin D forms was lower among patients with CRC, regardless of the presence or absence of any genetic polymorphism. The mean serum levels of active vitamin D were higher among patients with polymorphic genotype variants of Apa1 or Bsm1.
CRC patients had a higher frequence of insufficient vitamin D and a higher concentration of active vitamin D. These concentration were higher between patients with polymorphic genotypes variants of ApaI and BsmI, CYP24A1 and CYP27B1. Polymorphic genotypes cause a lower correlation between the forms of vitamin D.
维生素D的代谢复杂，其受体（VDR）以及由CYP27B2和CYP24A1基因编码的蛋白质会影响血清维生素D水平。本研究旨在探讨结直肠癌（CRC）患者中VDR（ApaI和BsmI）、CYP27B1和CYP24A1基因多态性与两种形式的血清维生素D水平的关系，这两种形式分别为25（OH）D3（循环形式）和1,25（OH）2D3（活性形式）。
纳入152例CRC患者和321例对照。从外周血中提取DNA。通过PCR-RFLP鉴定BsmI和ApaI的多态性。通过基因测序确定CYP24A1（rs6013897、rs158552和rs17217119）和CYP27B1（rs10877012）的多态性。
CRC患者和对照之间循环维生素D的血清中位数水平无差异；然而，癌症患者中维生素D缺乏者的百分比更高。CRC患者中维生素D的活性形式更高。VDR、CYP27B1和CYP24A1基因多态性基因型对循环维生素D的血清水平无影响。无论是否存在任何基因多态性，CRC患者中循环维生素D和活性维生素D形式之间的相关性都较低。Apa1或Bsm1基因多态性基因型变体的患者中活性维生素D的平均血清水平更高。
CRC患者维生素D不足的频率更高，活性维生素D的浓度更高。在ApaI和BsmI、CYP24A1和CYP27B1基因多态性基因型变体的患者中，这些浓度更高。基因多态性基因型导致维生素D形式之间的相关性较低。
