Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients

Lafi, Zainab; Irshaid, Yacoub M.; El‐Khateeb, Mohammed; Ajlouni, Kamel; Hyassat, Dana

doi:10.1089/gtmb.2015.0058

Cited by 41 publications

(42 citation statements)

References 23 publications

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“…However, a significant fraction of inter-individual variability in serum 25-OHD is not explained by these factors. Epidemiological studies provide robust evidence that genetic factors contribute substantially to an individual's vitamin D status [117][118][119][120][121][122][123][124][125][126]. Differences in the prevalence of vitamin D deficiency among different ethnic groups can be explained at least in part by genetic variants that affect vitamin D metabolism.…”

Section: Single Nucleotide Polymorphismsmentioning

confidence: 99%

Assessment of vitamin D status – a changing landscape

Herrmann

Farrell²,

Pusceddu

et al. 2016

Clinical Chemistry and Laboratory Medicine (CCLM)

194

184

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Section: Single Nucleotide Polymorphismsmentioning

confidence: 99%

Assessment of vitamin D status – a changing landscape

Herrmann

Farrell²,

Pusceddu

et al. 2016

Clinical Chemistry and Laboratory Medicine (CCLM)

194

184

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“… 22 Lafi et al have also reported an association of VDBP polymorphism with increased risk of vitamin D deficiency among healthy Jordanians. 23 On the other hand, Michos et al showed that low serum levels of 25(OH)D were associated with increased incidence of CHD among Whites, however, no interaction of 25(OH)D levels with VDBP genotypes was found in that population. 11 Similarly, VDBP genetic variants were not found to be related with CHD in Italian population.…”

Section: Discussionmentioning

confidence: 93%

Association of Vitamin D deficiency and VDBP gene polymorphism with the risk of AMI in a Pakistani population

et al. 2017

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Objective:To investigate the relationship of vitamin D deficiency and risk of AMI in a Pakistani population, and to find out any association between vitamin D binding protein (VDBP) genotypes and risk of AMI in this population.Methods:In a comparative cross-sectional study, 246 patients (age: 20-70 years; 171 males and 75 females) with first AMI were enrolled with informed consent. Similarly, 345 healthy adults (230 males and 115 females) were enrolled as controls. Their fasting serum samples were analyzed for 25 (OH) vitamin D, lipids and other biomarkers using kit methods, while DNA was analyzed for VDBP genotypes using PCR-RFLP based methods. Chi-squared test and logistic regression were used for association of vitamin D deficiency and VDBP genotypes with AMI.Results:Mean serum concentration of 25(OH) vitamin D was significantly lower in AMI patients compared to healthy subjects (p=0.015) and percent vitamin D deficiency was higher in AMI patients compared to healthy subjects (p=0.003). VDBP IF-IF genotype was positively associated with the risk of AMI in subject above 45 years after adjusting for potential confounders [OR = 9.86; 95% CI=1.16 to 83.43].Conclusion:Vitamin D deficiency and VDBP IF-IF genotype are associated with AMI in Pakistani adults.

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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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Association of rs7041 and rs4588 Polymorphisms of the Vitamin D Binding Protein and the rs10741657 Polymorphism of CYP2R1 with Vitamin D Status Among Jordanian Patients

Abstract: The rs70141657G/A of CYP2R1 and rs7041T/G and rs4588C/A of vitamin D binding protein genetic polymorphisms were associated with increased risk of vitamin D deficiency among apparently healthy Jordanians.

Cited by 41 publications

References 23 publications

Assessment of vitamin D status – a changing landscape

Assessment of vitamin D status – a changing landscape

Association of Vitamin D deficiency and VDBP gene polymorphism with the risk of AMI in a Pakistani population

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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