• Aysha Habib Khan, Lena Jafri, Areeba Siddiqui, Ghazala Naureen, Howard Morris, and Tariq Moatter.
• Department of Pathology and Laboratory Medicine, Aga Khan University, Stadium Road, Karachi, Pakistan.
• J Coll Physicians Surg Pak. 2019 Aug 1; 29 (8): 715-719.

ObjectiveTo identify DBP gene rs4588 and rs7041 polymorphisms and associate with participants' serum 25(OH)D and BMD levels.Study DesignCross-sectional descriptive study design.Place And Duration Of StudySection of Chemical Pathology and Molecular Pathology, Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, from July 2014 to September 2015.MethodologyBlood samples from 98 young adults, out of 101 samples collected, were genotyped for GC rs4588 and rs7041 polymorphisms by polymerase chain reaction-based restriction fragment length polymorphism assay. Questionnaires were administered to obtain information on demographics and anthropometric characteristics, BMD was assessed with heel ultrasound and 25(OH)D was measured using a Chemiluminescence immunoassay.ResultsHigh prevalence of vitamin D deficiency was noted in the study population n=87 (86.1%) having median (IQR) 25(OH)D levels of 14.9 (20.9) ng/ml, in males and 12.1 (51.8) ng/ml in females. The C/C genotype of SNP rs4588 had the highest proportion n=50 (51%), whereas for rs7041 genotype G/T was most frequently observed n=53 (54%) in subjects. Highest 25(OH)D levels were observed within the homozygous genotypes C/C median 25(OH)D 14.0 (49.6) and G/G (median 25(OH)D 14.9 (37.1) ng/ml. Statistically significant relationship was noted between rs7041 genotype G/T and BMD (p 0.037).ConclusionHypovitaminosis D was frequently found in young adults. Furthermore, G/T variant of rs7041 polymorphism was associated with lower 25(OH)D serum levels.

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