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

Sachiko Kitanaka, Tsuyoshi Isojima, Minako Takaki, Chikahiko Numakura, Kiyoshi Hayasaka, Takashi Igarashi
Endocrine Journal 2012, 59 (11): 1007-14
The prevalence of vitamin D deficiency, presenting as hypocalcemic seizures or rickets in children, is increasing worldwide due to insufficient vitamin D intake and lack of exposure to sunshine. However, considering that relatively few children with low 25-hydroxyvitamin D [25(OH)D] levels manifest symptoms, it is possible that genetic factors may predispose individuals to vitamin D deficiency. Recent twin studies have reported that the level of serum of 25(OH)D is influenced by genetic factors. In addition, genome-wide association studies and candidate gene studies have revealed that several vitamin D-related genes, including VDR, GC, NADSYN1, CYP2R1, CYP24A1, CYP27B1, and C10orf88 contribute to variations in serum 25(OH)D levels. To investigate whether genetic predisposition contributes to vitamin D deficiency, we analyzed polymorphisms in vitamin D-related genes in 30 Japanese patients with vitamin D deficiency presenting at less than 4 years of age, along with 66 controls. A χ(2) test showed that the genotype frequencies of BsmI polymorphism in VDR and rs10898191 in NADSYN1 were significantly different between the two groups. The allele frequencies of BsmI, ApaI, TaqI in VDR, rs10898191 in NADSYN1, and rs705117 in GC were also significantly different. In particular, the frequency of the BAtS haplotype in VDR was significantly increased in the patient group relative to controls (p = 0.0014; odds ratio, 5.61; 95% confidence interval 1.92 - 16.40). Although this is a small study, our findings suggest that VDR, NADSYN1, and GC polymorphisms may be linked to the manifestation of vitamin D deficiency in Japanese children.

Full Text Links

Find Full Text Links for this Article


You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"