Association of common genetic variants with vitamin D status in Malaysian children with epilepsy

Kong, Ann Nie and Fong, Choong Yi and Ng, Ching Ching and Mohamed, Ahmad Rithauddin and Khoo, Teik Beng and Ng, Rui Lun and Jalaludin, Muhammad Yazid and Nadarajaw, Thiyagar (2020) Association of common genetic variants with vitamin D status in Malaysian children with epilepsy. Seizure-European Journal of Epilepsy, 79. pp. 103-111. ISSN 1059-1311, DOI

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Purpose: Children with epilepsy (CWE) are at risk of vitamin D deficiency. Single nucleotide polymorphisms (SNPs) affecting the vitamin D pathway are potentially important risk factors for serum 25-hydroxyvitamin D 25(OH)D] concentration. The aims of our study were to evaluate the association of vitamin D-related SNPs to serum 25(OH)D concentrations in Malaysian CWE. Methods: Cross-sectional study of Malaysian ambulant CWE on antiseizure medication for > 1 year. Sixteen SNPs in 8 genes (GC, VDR, CYP2R1, CYP24A1, CYP27B1, CYP27A1, CYP3A4, NADSYN1/DHCR7) were genotyped. Linear and logistic regression models and co-variates adjusted analyses were used. SNPs with significant associations were further analysed in a group of ethnically-matched healthy Malaysian children. Results: 239 CWE were recruited (52.7% Malay, 24.3% Chinese and 23.0% Indian) with mean serum 25(OH)D of 58.8 nmol/L (SD 25.7). Prevalence of vitamin D deficiency (<= 37.5 nmol/L) was 23.0%. Minor allele of GC-rs4588-A was associated with lower serum 25(OH)D in the meta-analysis of both CWE (beta-8.11, P = 0.002) and Malaysian healthy children (beta-5.08, P < 0.001), while VDR-rs7975232-A was significantly associated with reduced odds of vitamin D deficiency in Malay subgroup of CWE (OR: 0.16; 95% CI: 0.06-0.49; P = 0.001) and this association was not found in the healthy children group. Conclusions: Our results suggest that GC-rs4588 is associated with lower serum 25(OH)D concentration in both Malaysian CWE and healthy children, while VDR-rs7975232A is associated with lower risk of vitamin D deficiency in Malaysian CWE of Malay ethnicity. Our findings may assist in the genetic risk stratification of low vitamin D status among CWE.

Item Type: Article
Funders: Universiti Malaya, CHAN-02 H-50001-A000023, P0026/2013A, UMRG 304-11HTM, UMRG 532-13HTM
Uncontrolled Keywords: Antiepileptic drug; 25-hydroxyvitamin D; Vitamin D deficiency; Single nucleotide polymorphism; Association study
Subjects: R Medicine > RJ Pediatrics
R Medicine > RJ Pediatrics > Child health. Child health services
Divisions: Faculty of Medicine > Paediatrics Department
Faculty of Science > Institute of Biological Sciences
Depositing User: Ms Zaharah Ramly
Date Deposited: 01 Dec 2023 06:39
Last Modified: 01 Dec 2023 06:39

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