Evaluation of vitamin D receptor (VDR) gene polymorphisms (FokI, TaqI and ApaI) in a family with dentinogenesis imperfecta

Ulucan, Korkut; Akyüz, Serap; Ozbay, Gizem; Pekiner, Filiz Namdar

doi:10.3103/s0095452713050101

Cited by 5 publications

(5 citation statements)

References 20 publications

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“…The VDR gene has four major polymorphisms (Bsml, Taq1, Apal, and Fok1) that affect VDR mRNA stability, expression, and activity. Notably, Fok1 and Taq1 are the most widely investigated VDR polymorphisms (10).…”

Section: Introductionmentioning

confidence: 99%

Vitamin D Deficiency and Receptor Polymorphisms as Risk Factors for COVID-19

Efe Iris,

Akman,

Akin

et al. 2023

Jundishapur J Microbiol

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Background: Early immune responses to COVID-19 can help eliminate the virus; therefore, strategies to improve the immune system have become important in disease prevention. Vitamin D plays a crucial role in the immune response to SARS-CoV-2 by increasing the expression of the vitamin D receptor. Objectives: This study investigated the impact of vitamin D deficiency, Fok 1, and Taq 1 Vitamin D Receptor (VDR) gene polymorphisms and comorbidities on the susceptibility to COVID-19. Methods: Fok1 and Taq1 polymorphisms were analyzed using the RT-PCR method, and vitamin D levels were measured using the chemiluminescence method. A total of 200 patients, 100 with COVID-19 and 100 without, provided blood samples for analysis. Results: The COVID-19 positive group had a significantly lower mean vitamin D level of 16.2 ± 11.3 ng/mL compared to the COVID-19 negative control group, 26.7 ± 15.9 ng/mL (P < 0.001). Individuals with a vitamin D level below 18.4 ng/mL had a 2.448 times higher risk of COVID-19 positivity (P < 0.001). There was no significant difference in the Fok1 and Taq1 gene polymorphisms between the two groups. (P = 0.548 and P = 0.098). The COVID-19 positive group had a significantly higher number of comorbid diseases with 40 (40%) compared to the negative group with 10 (10%) participants (P < 0.001). Conclusions: Levels of vitamin D above the cut-off value of 18.4 ng/mL were found to protect against COVID-19, while the presence of comorbid diseases was identified as a risk factor. However, no association was observed between the Fok1 and Taq1 polymorphisms and susceptibility to COVID-19.

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Section: Introductionmentioning

confidence: 99%

Vitamin D Deficiency and Receptor Polymorphisms as Risk Factors for COVID-19

Efe Iris,

Akman,

Akin

et al. 2023

Jundishapur J Microbiol

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“…It is 100 kb long and has more than 100 polymorphic regions identified before (Norman et al, 2006). The rs731236 polymorphism in exon 9 of VDR is caused by T>C transition, due to the change ATT codon converts to ATC and encodes the isolate form (Ulucan et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

Investigation of Vitamin D Receptor Gene rs731236 Polymorphism in Turkish Rugby Players

Eken

Tuna

Saç

et al. 2023

ERISS

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Vitamin D is an important molecule responsible for the development, contraction and regeneration of muscles, and activates its biological functions by means of its receptors, the vitamin D receptor (VDR), which is a member of the nuclear receptor group. In the present study, we aimed to analyze the rs731236 distribution in Turkish rugby players. A total of 22 male players and 30 sedentary individuals (as a control group) participated in the study. Following DNA isolation, rs731236 polymorphisms of VDR was determined by real-time polymerase chain reaction (RT -PCR). Statistical analysis was carried out by chisquare test. CC, CT and TT genotype and percentage distributions for rs731236 polymorphism in players

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“…VDR geninin 8. intronunda ve genin 3'-UTr bölgesine yakın bir lokasyonunda BsmI polimorfizmi (rs1544410) yer almaktadır (7). Bu polimorfizm A>G baz değişikliği sonucu oluşmaktadır.…”

Section: Introductionunclassified

“…VDr) 12q13.11'de lokalizedir, 100 kb uzunluğunda ve üzerinde 100'den fazla polimorfizm tanımlanmıştır(4,5). D vitamini reseptör geni fonksiyonuna etki eden FokI, BsmI, ApaI ve TaqI polimorfizmleri saptanmış ve belirlenen bu polimorfizmler ile çeşitli metabolik sorunlar, diş çürüğü ve periodontitis gibi oral sorunlar ile reseptör polimorfizmleri arasındaki ilişkiler araştırılmıştır(6).VDR geninin 8. intronunda ve genin 3'-UTr bölgesine yakın bir lokasyonunda BsmI polimorfizmi (rs1544410) yer almaktadır(7). Bu polimorfizm A>G baz değişikliği sonucu oluşmaktadır.…”

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