This document discusses a study that examined the relationship between vitamin D receptor (VDR) gene polymorphisms and postmenopausal osteoporosis in Egyptian women. The study analyzed FOKI and BSMI polymorphisms in 50 postmenopausal osteoporotic patients and 20 age-matched healthy controls. It found that the FF genotype of FOKI was more common in controls while the ff genotype was associated with lower bone mineral density and higher risk of osteoporosis in patients. It also found that the BB genotype of BSMI was more frequent in controls and conferred a protective effect, while the bb genotype was overrepresented in patients. The study concludes that VDR gene polymorphisms play an important role

4. Age-related loss of trabecular bone

6. Functions of the Vitamin D Endocrine System

8. Schematic diagram of the human vitamin D receptor gene

12. DNA Amplification with the Polymerase Chain Reaction (PCR) Make copies ( extend primers ) Starting DNA Template 5’ 5’ 3’ 3’ 5’ 5’ 3’ 3’ Add primers ( anneal ) 5’ 3’ 3’ 5’ Forward primer Reverse primer Separate strands ( denature ) 5’ 5’ 3’ 3’

13. In 35 cycles at 100% efficiency, 1.07 billion copies of targeted DNA region are created PCR Copies DNA through Multiple Thermal Cycles Original DNA target region Thermal cycle Thermal cycle Thermal cycle

14. Mutation detection by restriction analysis 7 6 5 4 3 2 1 Ladder 69 bp-- 196 bp-- 265 bp--

15. 7 6 5 4 3 2 1 Ladder 69 bp-- 196 bp-- 265 bp--

16. 8 7 6 5 4 3 2 1 Ladder 200 bp 650 bp 850 bp

17. RESULTS

18. Body mass index of osteoporotic and controls

19. Distribution of different genotypes of FOKI polymorphism & alleles frequency in patients & controls: FF genotype Ff genotype ff genotype Allele (%) F f Patients (n=50) N (%) 34 (68) 9 (18) 7 (14) 72.9 27.1 Controls (n=20) N (%) 20 (100) 0 (0) 0 (0) 100 0

20. Distribution of different genotypes of BSMI polymorphism & alleles frequency in patients & controls: BB genotype Bb genotype bb genotype Allele (%) B b Patients (n=50) N (%) 27 (54) 15 (30) 8 (16) 64.6 35.4 Controls (n=20) N (%) 1 (5) 2 (10) 17 (85) 13.6 86.4

21. Comparison of the studied parameters in FOKI 0.07 0.68±.088 .74 ± .140 BMD lumbar (g/cm 2 ) 0.000 0.68±.040 0.77 ± .129 BMD femoral (g/cm 2 ) 0.04 -2.11 ±0 .91 -1.54 ± 1.14 T score lumbar 0.3 -1.21 ± 1.14 -.94 ± .983 T scorefemoral P-value Ff+ff (N=16) Mean ± SD FF (N=54) Mean ± SD Variables

22. BMD lumbar of osteoporotic patients

23. Comparison of the studied parameters in BSMI 0.000 0.67±0.10 0.84 ± 0.11 BMD lumbar (g/cm 2 ) 0.000 0.70 ±0 .07 0.85 ±0 .13 BMD femoral (g/cm 2 ) 0.001 -2.00 ± 1.02 -1.08 ± 1.05 T score lumbar 0.10 -1.14 ± 1.06 -0.75 ± 0 .92 T scorefemoral P-value Bb+bb (N=45) Mean ± SD bb (N=25) Mean ± SD Variables

24. BMD lumbar of osteoporotic patients

25. Combined genotypes of BSMI and FOKI of osteoporotic patients

26. Combined genotype of BSMI and FOKI of controls

27. O.R ratio of FOK1genotypes of patients and controls: (32) (0) (%) 16 0 Count Ff+ff (68) (100) (%) 1.588(1.29-1.95) 0.004 34 20 Count FF cases control FOK1 OR (95% CI) P value GROUP

28. O.R ratio of BSM1 genotypes of patients and controls: (16) (85) (%) 8 17 Count bb (84) (15) (% ) 29.75(7.04-125.8) 0.000 42 3 Count BB+Bb cases control BSM1

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