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Genetic polymorphism of the vitamin D-binding protein (DBP) in crab-eating macaques (Macaca fascicularis)

Tanaka H, Kawamoto Y, Terao K

J Med Primatol, 1991 May;20(3):126-32.
PMID: 1895332

Vitamin D-binding protein (DBP) of crab-eating macaques (Macaca fascicularis) was examined by means of three electrophoretic methods. DBP phenotypes were observed to be one or two bands in each method. All of DBP molecular variants could be detected by the simultaneous typing with these three methods. Family analysis suggested that DBP variants followed the mode of autosomal codominant inheritance. A total of 17 phenotypes governed by at least 11 alleles were observed in the populations of Malaysia, Indonesia, and the Philippines. The genetic variability was high in Malaysian and Indonesian populations but low in the Philippine population.

Matched MeSH terms: Vitamin D-Binding Protein/genetics*
Gc subtyping in Malaysians and in Indonesians from north Sumatra

Tan SG, Gan YY, Asuan K, Abdullah F

Hum Genet, 1981;59(1):75-6.
PMID: 10819027

Malays, Chinese and Indians from peninsular Malaysia; Ibans and Bidayuh from Sarawak state, Northern Borneo; and Bataks, Minangkabau and Javanese from North Sumatra, Indonesia, were subtyped for Gc (group-specific component) by polyacrylamide gel isoelectric focusing. All eight populations investigated were found to be polymorphic for three common alleles, Gc1F, Gc1S and Gc2.

Matched MeSH terms: Vitamin D-Binding Protein/genetics*
Distribution of group-specific component (Gc) subtypes in several Mongoloid populations of East Asia

Saha N

Ann Hum Biol, 1989 1 1;16(1):53-60.
PMID: 2919862

The distribution of group-specific component (Gc) subtypes was determined by isoelectric focussing in thin layer polyacrylamide gels of pH range 4 to 6.5, in a group of 2412 individuals from 10 Mongoloid populations of East Asia. The sample comprised 959 Chinese from different localities (Singapore, 249; Malaysia, 347; Taiwan, 246; Hong Kong, 57; Fuzhou mainland, 60), 338 Koreans, 277 Filipinos, 484 Thais, 330 Malays and 24 Indonesians. The Filipinos and Malays had lower frequencies of Gc2 (0.15 and 0.18) compared to other Mongoloid populations (0.23 to 0.32) and the Chinese (0.24 to 0.32). The frequencies of Gc1F varied from 0.39 to 0.49 in the Chinese and 0.35 to 0.52 in other Mongoloid populations. Low frequency of rarer variants was observed in most of the populations. The average frequency of Gc2 was higher in the Japanese (0.26 +/- 0.01) than in the Chinese (0.24 +/- 0.02), and in Mongoloids of East Asia (0.23 +/- 0.01) and South-East Asia (0.17 +/- 0.01). The average frequencies of Gc1F and Gc1S were similar in the Chinese and Japanese, whereas the Mongoloids of South-East Asia had a much higher frequency of Gc1F and a lower frequency of Gc1S than the Chinese, Japanese and East Asian Mongoloid populations.

Matched MeSH terms: Vitamin D-Binding Protein/genetics
Association of common genetic variants with vitamin D status in Malaysian children with epilepsy

Kong AN, Fong CY, Ng CC, Mohamed AR, Khoo TB, Ng RL, et al.

Seizure, 2020 Jul;79:103-111.
PMID: 32464532 DOI: 10.1016/j.seizure.2020.05.009

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 (β -8.11, P = 0.002) and Malaysian healthy children (β -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.

Matched MeSH terms: Vitamin D-Binding Protein/genetics
Genetic studies of water buffalo blood markers. I. Red cell acid phosphatase, albumin, catalase, red cell alpha-esterase-3, group-specific component, and protease inhibitor

Tan SG, Barker JS, Selvaraj OS, Mukherjee TK, Wong YF

Biochem Genet, 1993 Jun;31(5-6):223-30.
PMID: 8259925

We have developed the methodologies for typing and family studies to establish the modes of inheritance of water buffalo red cell acid phosphatase (Acp), protease inhibitor (Pi), and group-specific component (Gc) on isoelectric focusing and albumin (Alb), red cell alpha-esterase-3 (Est-3), and catalase (Cat) on polyacrylamide gel electrophoresis. Family studies showed that Pi, Gc, Alb, and Cat are coded by autosomal genes with two codominant alleles, while Est-3 is autosomal with two codominant alleles and a recessive null allele and Acp exhibits three codominant alleles.

Matched MeSH terms: Vitamin D-Binding Protein/genetics
Environmental and genetic determinants of vitamin D insufficiency in 12-month-old infants

Suaini NH, Koplin JJ, Ellis JA, Peters RL, Ponsonby AL, Dharmage SC, et al.

J Steroid Biochem Mol Biol, 2014 Oct;144 Pt B:445-54.
PMID: 25174667 DOI: 10.1016/j.jsbmb.2014.08.018

We aimed to investigate the relationship between genetic and environmental exposure and vitamin D status at age one, stratified by ethnicity. This study included 563 12-month-old infants in the HealthNuts population-based study. DNA from participants' blood samples was genotyped using Sequenom MassARRAY MALDI-TOF system on 28 single nucleotide polymorphisms (SNPs) in six genes. Using logistic regression, we examined associations between environmental exposure and SNPs in vitamin D pathway and filaggrin genes and vitamin D insufficiency (VDI). VDI, defined as serum 25-hydroxyvitamin D3(25(OH)D3) level ≤50nmol/L, was measured using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Infants were stratified by ethnicity determined by parent's country of birth. Infants formula fed at 12 months were associated with reduced odds of VDI compared to infants with no current formula use at 12 months. This association differed by ethnicity (Pinteraction=0.01). The odds ratio (OR) of VDI was 0.29 for Caucasian infants (95% CI, 0.18-0.47) and 0.04 for Asian infants (95% CI, 0.006-0.23). Maternal vitamin D supplementation during pregnancy and/or breastfeeding were associated with increased odds of infants being VDI (OR, 2.39; 95% CI, 1.11-5.18 and OR, 2.5; 95% CI, 1.20-5.24 respectively). Presence of a minor allele for any GC SNP (rs17467825, rs1155563, rs2282679, rs3755967, rs4588, rs7041) was associated with increased odds of VDI. Caucasian infants homozygous (AA) for rs4588 had an OR of 2.49 of being associated with VDI (95% CI, 1.19-5.18). In a country without routine infant vitamin D supplementation or food chain fortification, formula use is strongly associated with a reduced risk of VDI regardless of ethnicity. There was borderline significance for an association between filaggrin mutations and VDI. However, polymorphisms in vitamin D pathway related genes were associated with increased likelihood of being VDI in infancy.

Matched MeSH terms: Vitamin D-Binding Protein/genetics