Roles of the Taql and Bsml vitamin D receptor gene polymorphisms in hospital mortality of burn patients

OBJECTIVE: The aim of this study was to evaluate the roles of the Taql and Bsml vitamin D receptor gene polymorphisms in hospital mortality of burn patients. METHODS: In total, 105 consecutive burn injury patients over 18 years in age who were admitted to the Burn Unit of Bauru State Hospital from January to December 2013 were prospectively evaluated. Upon admission, patient demographic information was recorded and a blood sample was taken for biochemical analysis to identify the presence of the Taql(rs731236) and Bsml(rs1544410) polymorphisms. All of the patients were followed over their hospital stay and mortality was recorded. RESULTS: Eighteen of the patients did not sign the informed consent form, and there were technical problems with genotype analysis for 7 of the patients. Thus, 80 patients (mean age, 42.5±16.1 years) were included in the final analysis. In total, 60% of the patients were male, and 16.3% died during the hospital stay. The genotype frequencies for the Taql polymorphism were 51.25% TT, 41.25% TC and 7.50% CC; for the Bsml polymorphism, they were 51.25% GG, 42.50% GA and 6.25% AA. In logistic regression analysis, after adjustments for age, gender and total body surface burn area, there were no associations between the Taql (OR: 1.575; CI95%: 0.148-16.745; p=0.706) or Bsml (OR: 1.309; CI95%: 0.128-13.430; p=0.821) polymorphisms and mortality for the burn patients. CONCLUSIONS: Our results suggest that the Taql and Bsml vitamin D receptor gene polymorphisms are not associated with hospital mortality of burn patients.

Vitamin D Receptor BsmI Gene Polymorphisms and Gestational Diabetes Mellitus: A Saudi Study.

Background: Both vitamin D deficiency and Gestational diabetes (GDM) are common among Saudis. The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to several diseases. Studies on association between VDR polymorphisms and risk of GDM in Saudi populations are yet inconclusive. Objective: to evaluate the association between Vitamin D receptor gene polymorphisms and genetic susceptibility to gestational diabetes (GDM) in pregnant Saudis. Subjects & Methods: thirty pregnant Saudi women with diabetes (17 GDM and 13 type 2 diabetes (T2DM) with past history of GDM) were compared to 14 pregnant women with normal glucose tolerance. Patients and controls were recruited at their third trimester from Taibah University medical unit from January to July 2010. Genomic DNA was extracted and the genotyping related to vitamin D receptor BsmI gene single – nucleotide polymorphisms was carried out by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. Results: The gene frequency, allele frequency and carriage rate of the VDR polymorphism BsmI did not differ between patients and controls with no significant association with any clinical parameters. The 25 hydroxyl Vitamin D level but not the gene frequency was a significant predictor of history of abortion among diabetics (OR=- 0.29, 95% CI -0.081-0.0, p=0.047). Conclusions: Vitamin D receptor BsmI gene polymorphisms is not associated with gestational diabetes among Saudis. Further studies of other Vitamin D receptor gene polymorphism in combination are required.

The Effect of ALAD and VDR Polymorphism on the Hematopoietic Biomarkers in Lead Exposed Workers / 대한산업의학회지

OBJECTIVES: This study was conducted with new workers who entered lead industries from 1992 to 2001 to evaluate the genetic susceptibility of ALAD (delta-aminolevulinic acid dehydratase) and VDR (vitamin D receptor) gene on health effect of lead exposure. METHODS: Among the subjects of the database of lead industries at the Soonchunhyang University Institute of Industrial Medicine, only new workers were selected for this study. The total of eligible workers for this category was 3,540 workers, including non lead exposed workers of same lead industries. From stored blood in specimen bank of Soonchunhyang University, genotype of ALAD and VDR were measured using PCR method. Variables for this study were blood lead as an index of lead exposure, ZPP (zinc protoporphyrin in blood), urine ALA (delta-aminolevulinic acid), and hemoglobin as an index of hematopoietic effect of lead. Information on sex, job duration, and weight were collected for personal information. The data were analyzed using SAS (version 8.2) with descriptive analysis of t-test and multiple regression analysis. RESULTS: Among 3,540 new employed study subjects during period of 1992-2001, 3,204 workers (90.5%) had ALAD genotype 1-1, while 336 workers (9.5%) had variant type of ALAD (1-2 or 2-2). For VDR genotype, 2,903 workers (89.7%) out of total tested 3,238 workers were belonged to type bb and 335 workers (10.5%) were type bB or BB. The distribution of genotype of ALAD and VDR were not different according to the job duration in male workers, but were different in female workers. The effect of ALAD and VDR genotype on blood lead were positively significant in the analysis of all cumulative data of new employed workers for 10 years. The effect of VDR genotype on blood lead were stronger than that of ALAD. While the variant ALAD gene made decrease of mean ZPP and ALA in urine after controlling for blood lead and other covariate, the variant VDR gene made increased the mean ZPP and ALA in urine in all cumulative data analysis and cross sectional analysis by job duration. For hemoglobin, ALAD and VDR genotype did not affect the mean value. CONCLUSIONS: From the above our results, we found that ALAD and VDR genotype exerted significant effect in various way. We confirmed that the finding of a cross sectional study of protective effect of variant ALAD on the effect of blood lead on blood ZPP in our retrospective study design. It was found that VDR did not exert protective effect for lead exposure as the variant ALAD did.