Genetic Variation in <i>CYP2R1</i> and <i>GC</i> Genes Associated With Vitamin D Deficiency Status

Slater, Nicole; Rager, Michelle L.; Havrda, Dawn E.; Harralson, Arthur F.

doi:10.1177/0897190015585876

Cited by 38 publications

(44 citation statements)

References 31 publications

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“…In this study, we also found that SNP CYP2R1 rs10741657 is associated with both insufficiency and deficiency of 25OHD, which is consistent with other studies. 7 , 19 , 20 On the other hand, Li et al, 13 did not find any association between SNP CYP2R1 rs10741657 and vitamin D level, while Elkum et al, 17 found that it was positively associated with vitamin D level among South Asian population, but not among Arabs population. We also studied the effect of SNP CYP2R1 rs1993116, and we found that it was not associated with variability in vitamin D, consistent with the finding reported by Li et al, 13 and different from the finding reported by Robien et al, 19 although both studies were carried out on Chinese population.…”

Section: Discussionmentioning

confidence: 99%

Genetic influence on circulating vitamin D among Saudi Arabians

Sadat-Ali

Al-Turki

Azam

et al. 2016

SMJ

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ObjectivesTo examine the effect of most common studied single nucleotide polymorphisms (SNP) on serum 25-hydroxyvitamin D (25OHD) levels in Saudi Arabian population.MethodA cross-sectional observational study was carried out between July 2014 and October 2015, at King Fahd Hospital of the University (KFHU), Al-Khobar, Kingdom of Saudi Arabia. After informed consent, blood samples from 283 subjects living in the Eastern province were collected for 25-OHD measurement and genetic analysis of SNPs in vitamin D receptor (VDR) [rs2228570 and rs1544410], Cytochrome, P450 family 2 (CYP2R1) [rs10741657 and rs1993116], and Group-specific components (GC) [rs2282679 and rs4588].ResultsVitamin D deficiency was found in 87.6% and insufficiency in 7.7%. The percentages of the different alleles of the 6 SNPs tested ranged between 0-62.5%. There was significant difference between the AA, AG, and GG alleles of VDR rs2228570. The carries of GG allele was associated with increased risks of vitamin D insufficiency (p<0.002) and deficiency (p≤0.005). The CYP2R1 rs10741657 gene showed that AG and GG allele carriers had significant risk of vitamin D deficiency. AG allele (normal versus Insufficiency p<0.02 and normal versus deficiency p<0.08) and GG allele normal versus deficiency (p<0.002) and insufficiency versus deficiency (p<0.001). For group-specific components (GC rs4588), there was only significant difference between the normal and deficiency for the AC allele (p<0.0001).ConclusionThe presence of GG allele of the SNP rs2228570 of VDR gene, SNPs rs4588 of GC gene and CYP2R1 rs10741657 gene was associated with vitamin D deficiency.

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Section: Discussionmentioning

confidence: 99%

Genetic influence on circulating vitamin D among Saudi Arabians

Sadat-Ali

Al-Turki

Azam

et al. 2016

SMJ

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“…A study by Slater, N.A. et al [13] showed that non-carriers of rs10741657 risk alleles (CG) had higher levels of 25(OH)D. Ramos-Lopez et al [12] found a significant association between the genotype of rs10741657 and serum 25(OH)D concentrations in 203 German diabetic patients. Two genome-wide association studies (GWAS) on genetic determinants of serum of vitamin D published in 2010 [14,15] and found that rs10741657 was significantly associated with 25(OH)D concentrations in 30,000 subjects of European descent from 15 cohorts or in 496 unrelated healthy Caucasian subjects.…”

Section: Discussionmentioning

confidence: 99%

Genetic Polymorphisms in the Vitamin D Pathway and Non-small Cell Lung Cancer Survival

Kong

Chen

Wang

et al. 2019

Pathol. Oncol. Res.

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Various genetic polymorphisms have been linked to lung cancer susceptibility and survival outcomes. Vitamin D (VD) regulates cell proliferation and differentiation, inhibits tumor growth and induces apoptosis. Observations from several previous studies including our own suggest that genetic polymorphisms in the VD pathway may be associated with lung cancer risk. The aim of this study is to assess if genetic polymorphisms in the VD pathway are associated with the prognosis of non-small cell lung cancer (NSCLC). Nine single nucleotide polymorphisms (SNPs) in five genes in the VD pathway were genotyped with the TaqMan assays in 542 patients with primary NSCLC, and the relationships between these SNPs and overall survival were evaluated. We found that SNP rs10741657 in the CYP2R1 gene was associated with the prognosis of NSCLC, especially in elderly patients and not being treated with chemotherapy. Some of the VD pathway-related genetic polymorphisms may influence the prognosis of NSCLC. More research is needed to further confirm the finding and test if VD supplements can be used for NSCLC treatment.

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“…This stage of the VD metabolic pathway is one of those in which researchers have searched for variants influencing MS, especially in CYP27B1 ; it is therefore surprising that no association was found. Associations have been described between VD deficiency and numerous genetic variants (Lafi, Irshaid, El‐Khateeb, Ajlouni, & Hyassat, ; Li et al, ; Lu et al, ; Nissen et al, ; Signorello et al, ; Slater, Rager, Havrda, & Harralson, ; Wang et al, ; Zhang et al, ) (Table S1). However, these associations do not necessarily represent increased risk of MS, as no correlation has been demonstrated between the disease and plasma VD level (Ahn et al, ).…”

Section: Discussionmentioning

confidence: 99%

Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole‐exome next generation sequencing

et al. 2019

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Introduction Vitamin D (VD) deficiency has been associated with multiple sclerosis (MS) and other autoimmune diseases (AIDs). However, the effect of the genetics of VD on the risk of MS is subject to debate. This study focuses on genes linked to the VD signaling pathway in families with MS. The evaluation of gene variants in all the members of families could contribute to an additional knowledge on the information obtained from case‐control studies that use nonrelated healthy people. Material and Methods We studied 94 individuals from 15 families including at least two patients with MS. We performed whole‐exome next generation sequencing on all individuals and analyzed variants of the DHCR7, CYP2R1, CYP3A4, CYP27A1, GC, CYP27B1, LRP2, CUBN, DAB2, FCGR, RXR, VDR, CYP24A1, and PDIA3 genes. We also studied PTH, FGF23, METTL1, METTL21B, and the role of the linkage disequilibrium block on the long arm of chromosome 12, through analysis of the CDK4, TSFM, AGAP2, and AVIL genes. We compared patients with MS, other AIDs and unaffected members from different family types. Results The study described the variants in the VD signaling pathway that appear in families with at least two patients with MS. Some infrequent variants were detected in these families, but no significant difference was observed between patients with MS and/or other AIDs and unaffected family members in the frequency of these variants. Variants previously associated with MS in the literature were not observed in these families or were distributed similarly in patients and unaffected family members. Conclusion The study of genes involved in the VD signaling pathway in families that include more than one patient with MS did not identify any variants that could explain the presence of the disease, suggesting that VD metabolism could probably play a role in MS more as an environmental factor rather than as a genetic factor. Our study also supports the analysis of cases and unaffected individuals within families in order to determine the influence of genetic factors.

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Genetic Variation in CYP2R1 and GC Genes Associated With Vitamin D Deficiency Status

Cited by 38 publications

References 31 publications

Genetic influence on circulating vitamin D among Saudi Arabians

Genetic influence on circulating vitamin D among Saudi Arabians

Genetic Polymorphisms in the Vitamin D Pathway and Non-small Cell Lung Cancer Survival

Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole‐exome next generation sequencing

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