Cubilin, the intrinsic factor-vitamin B12 receptor

Kozyraki, Renata; Verroust, P; Cases, Olivier

doi:10.1016/bs.vh.2022.01.005

Cited by 4 publications

(1 citation statement)

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“…This process produces the active form of the vitamin and maintains its serum concentration [ 30 ]. Therefore, functional alterations in LRP2 and CUBN genes can potentially result in increased urinary concentration of the 25-(OH)D3-VDBP complex and, subsequently, in reduced activation of 1,25-(OH)2 vitamin D3 [ 31 ]. However, since the functional effect of the above polymorphisms has not been fully elucidated, our results can only suggest a minor role of LRP2 and CUBN gene polymorphisms in sleep apnea possibly mediated via vitamin D levels.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms in LRP2 and CUBN genes and their association with serum vitamin D levels and sleep apnea

Anatolou,

Steiropoulos,

Zissimopoulos

et al. 2023

Sleep Breath

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Purpose Vitamin D deficiency has been associated with the occurrence of obstructive sleep apnea syndrome (OSAS). Megalin (LRP2) and cubilin (CUBN) are implicated in vitamin D metabolism, whereas LRP2 and CUBN polymorphisms have been previously associated with variable serum vitamin D levels. The present study aimed to evaluate the role of LRP2 rs2228171 c.8614C > T and CUBN rs1801222 c.758A > G polymorphisms in OSAS susceptibility, independently or in synergy with vitamin D levels. Methods Vitamin D serum concentration of consecutive individuals was measured. PCR–RFLP was used for LRP2 rs2228171 and CUBN rs1801222 genotyping. Results A total of 176 individuals was enrolled, including 144 patients with OSAS and 32 controls. Frequency of LRP2 rs2228171 c.8614 T and CUBN rs1801222 c.758G alleles was estimated at 22.4% and 79.8%, respectively. LRP2 and CUBN polymorphisms were not associated with OSAS occurrence (rs2228171Τ allele: 22.9% in OSAS group vs. 20.3% in controls, p = 0.651; rs1801222A allele 19.4% in OSAS group vs. 23.4% in controls, p = 0.471). Frequency of CUBN rs1801222A allele carriers was increased in patients with moderate or severe OSAS compared to mild OSAS (p = 0.028). Patients with OSAS homozygous for LRP2 CC and CUBN GG genotypes had lower vitamin D serum concentration compared to controls carrying the same genotype (18.0 vs 27.0 ng/mL, p = 0.006 and 19.0 vs 27.5 ng/mL, p = 0.007, respectively). Conclusion CUBN rs1801222 polymorphism may affect OSAS severity. Among other factors, low vitamin D concentration is associated with OSAS occurrence, irrespectively of LRP2 and CUBN polymorphisms.

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Section: Discussionmentioning

confidence: 99%