Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children

Kitanaka, Susumu; Isojima, Tsuyoshi; Takaki, Minako; Numakura, Chikahiko; Hayasaka, Kiyoshi; Igarashi, Takashi

doi:10.1507/endocrj.ej12-0143

Cited by 31 publications

(37 citation statements)

References 45 publications

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“…Linkage between GC variants, particularly rs7041 and rs4588, and vitamin D status has previously been investigated, and both polymorphisms have been found to be associated with vitamin D status and DBP levels in many populations (Sinotte et al, 2009;McGrath et al, 2010;Wang et al, 2010;Gozdzik et al, 2011;Wehr et al, 2011;Kitanaka et al, 2012;Zhang et al, 2012). However, in the present study on the Lebanese population, no significant association was observed between the alleles and genotypes of rs7041 and rs4588 and vitamin D concentration (Fig.…”

Section: Discussioncontrasting

confidence: 55%

“…It is known that vitamin D concentration varies according to different factors, such as the nutritional vitamin D intake, geographical localization (low altitude, latitude from the equator region, and polluted regions), season of the year, skin pigmentation, dressing habits, protective measures from sunlight, or any pathology affecting absorption, synthesis or transport of vitamin D (Kitanaka et al, 2012). Vitamin D level also decreases with age (Tangpricha et al, 2002; 2004; Forman et al, 2007;Wacker & Holick, 2013).…”

Section: Discussionmentioning

confidence: 99%

“…Indeed, various genetic factors seem to play an important role in the determination of serum concentrations of calcidiol. Many studies have shown significant associations between polymorphisms in genes involved in vitamin D metabolism (such as CYP2R1, CYP24A1, and CYP27A1), transport (such as the GC gene coding for DBP) or action (such as the VDR gene), and vitamin D status (McGrath et al, 2010;Kitanaka et al, 2012). In particular, two single-nucleotide polymorphisms (SNPs), rs7041 and rs4588, in the GC gene have been investigated, and were associated with vitamin D status and DBP blood concentration in many populations (Lauridsen et al, 2005;Sinotte et al, 2009;McGrath et al, 2010;Gozdzik et al, 2011;Kitanaka et al, 2012).…”

Section: Introductionmentioning

confidence: 99%

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Hypovitaminosis D in a Young Lebanese Population: Effect of GC Gene Polymorphisms on Vitamin D and Vitamin D Binding Protein Levels

Medlej‐Hashim

Jounblat

Hamadé

et al. 2015

Annals of Human Genetics

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Bioactive vitamin D is a steroid hormone transported in blood via the vitamin D binding protein (DBP). Our study aimed to investigate the vitamin D status in a young Lebanese population and study the association of hypovitaminosis with levels of DBP. Polymorphisms in the GC gene that encodes DBP were also screened. Blood samples were collected from 179 university students. Vitamin D status and DBP levels were assayed by enzyme-linked immunosorbent assay (ELISA). DNA was extracted from 128 participants, and genotyping of the two GC gene SNPs, rs7041, and rs4588, was carried out by restriction fragment length polymorphism. Forty-seven percent of participants had hypovitaminosis D (<20 ng/ml). A significant positive correlation was observed between vitamin D status and DBP. Genotyping data showed that participants carrying the rs7041 GG and rs4588 AA genotypes had higher concentrations of DBP than those carrying other genotypes. Four allelic versions of the GC gene were observed, one of which, GC*3, was encountered for the first time in this study, and was found to be associated with both normal vitamin D and high DBP levels. Modifying genes such as GC could therefore affect DBP levels, and contribute, along with environmental factors, to the hypovitaminosis D observed in sunny countries.

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Section: Discussioncontrasting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Hypovitaminosis D in a Young Lebanese Population: Effect of GC Gene Polymorphisms on Vitamin D and Vitamin D Binding Protein Levels

Medlej‐Hashim

Jounblat

Hamadé

et al. 2015

Annals of Human Genetics

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“…Although PHT and CBZ are shown to be associated with most marked decreases in bone mineralization among pediatric patients [54,55,57,62], some studies suggest no such association (TABLE 2) [59,60]. Some authors speculated that genetic factors may influence vitamin D status and seasonal variation of vitamin D levels [74]. For this purpose, genetic variation related to VDR polymorphism was investigated [75].…”

Section: Mechanism Of Vitamin D Deficiency In Epilepsy Treatmentmentioning

confidence: 99%

Epilepsy treatment by sacrificing vitamin D

Cebeci¹,

Ekici²

2014

Expert Review of Neurotherapeutics

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Epilepsy is one of the most common neurologic disorders in childhood that often requires long term treatment with antiepileptic drugs. Both antiepileptic treatment and the comorbidities associated with epilepsy have a negative impact on bone health in growing children. Given the fact that vitamin D deficiency is a major public health problem worldwide, clinicians caring for children with chronic diseases should be aware of effects of the medication on the bone metabolism. Yet, vitamin D deficiency due to antiepileptic treatment is an overlooked issue among neurologists. In this review, we briefly describe vitamin D metabolism and the effect of vitamin D in the brain. We also discuss the literature in terms of vitamin D deficiency and antiepileptic treatment in the pediatric population.

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“…VDR and vitamin D levels in studies investigating the relationship made and different results were obtained. In a study conducted in Tunisia in asthmatic children has not been shown that the relationship [5], but In a study on childreen in Japan there was a relationship between VDR and vitamin D deficiency [6]. Examined the relationship between BMD and VDR polymorphisms in the world and in our country, despite the fact that numerous studies conducted have found conflicting results with each other.…”

Section: Discussionmentioning

confidence: 97%

Frequency of BsmI polymorphism of vitamin D receptor gene and its association with 25-hydroxyvitamin D levels

Babur¹,

Kaya²,

Turan³

et al. 2014

EJEA

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INTRODUCTIONVitamin D deficiency has become a major public health problem. It's known that the effects of vitamin D are made by its receptors. Vitamin D receptor (VDR) is a member of nuclear receptors type 1 such as androgen, estrogen, progesterone and glucocorticoid receptor. In several studies carried out up to 30 different cells and tissues of the vitamin D receptor (VDR) have shown the presence. In many studies ongoing malignancies and their relationship with Vitamin D and VDR are being investigated. VDR gene polymorphisms in susceptibility to different diseases demonstrated in many studies. The polymorphisms of VDR are ApaI, TaqI, FokI and BsmI. BsmI is the most extensively studied polymorphism. In a study conducted for osteoporosis BB genotype was reported to be low risk indicator [1]. In our study, the aim is to show the frequency of VDR BsmI gene polymorphisms and to show the relationship between polymorphisms and vitamin D levels. METHODAll population were divided into two groups which are 100 osteoporotic and 100 non-osteoporotic. The demographic characteristics were recorded. In blood samples vitamin D, calcium, phosphorus, alkaline phosphatase; in urine samples urinary calcium, urinary creatinine were studied. In addition, approximately 2 cc of peripheral blood sample was taken for DNA isolation and VDR BsmI polymorphisms were studied by real-time PCR method and comparisons were made between the groups. RESULTSIn all of population BB genotype 17 %, Bb genotype 50.5 % and bb genotype 32.5 % were found. In osteoporotic grup BB genotype 16 %, Bb genotype 48 % and bb genotype 36 % were found. In non-osteoporotic grup BB genotype 18 %, Bb genotype 53 % and bb genotype 29 % were found. There was no statistically significant difference between groups (p=0.571). The level of vitamin D was 18.10 ng/mL in BB genotype, 17.08 ng/mL in Bb genotype and 16.34 ng/mL in bb genotype. There was no statistically significant difference between genotypes (p=0.717).

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Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children

Cited by 31 publications

References 45 publications

Hypovitaminosis D in a Young Lebanese Population: Effect of GC Gene Polymorphisms on Vitamin D and Vitamin D Binding Protein Levels

Hypovitaminosis D in a Young Lebanese Population: Effect of GC Gene Polymorphisms on Vitamin D and Vitamin D Binding Protein Levels

Epilepsy treatment by sacrificing vitamin D

Frequency of BsmI polymorphism of vitamin D receptor gene and its association with 25-hydroxyvitamin D levels

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