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Report for SNP rs3918242

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Influence of Specifically Designed Exercise Program on Serum Matrix Metalloproteinases and Functional Status in Women With Postmenopausal Osteoporosis

Osteoporosis is a chronic, systemic and the most frequently metabolic bone disease, characterized by low bone mass and microarchitectural remodeling of bone, which results in a greater fragility of the bone and risk of fracture. With the purpose of explaining the patophysiological mechanisms responsible for osteoporosis, it is necessary to determine the factors that influence on the activity and differentiation of osteoblasts and osteoclasts, as well as their dynamic change depending on the use of an appropriate treatment. According to the recommendations of the International Association for osteoporosis (the National Osteoporosis Fondation- NOF) the treatment of osteoporosis includes pharmacological and non-pharmacological treatment of. Pharmacological includes a range of different drug, where the bisphosphonates, non-hormonal antiresorptive drugs, present gold standard in the treatment of postmenopausal osteoporosis . Non-pharmacological treatment implies the daily physical activity and the specific exercise program, for the purpose of slowing or stopping the loss of bone mass, improve balance, and reduce the risk of falling and fractures. It is known that the mechanical loading of the bone has to be strong enough to achieve the effect of osteogenesis. The load due to the long bones of gravity and the tension force produced by the muscular activity, are the natural stimulus for maintenance of bone mass and muscle strength. This can be achieved by practice involving the activities in which the net mass of the body constitutes an additional load (so-called. "Weight-bearing exercises"), as well as exercise resistance from. Exercise with one's own mass include actions to counter gravity in an upright standing position, and then may be a stronger (high-impact) collides with the substrate (e.g., jumping) and the lower (low-impact) collides with the substrate (e.g., walking). Aerobic exercise, especially walking, is the most common type of intervention because of the ease administration and safety. Resistance training is another effective type of exercises that can affect the maintenance or improvement of bone mineral density, with the most frequently applied with the combination of the dynamic resistance exercises that engage multiple joints, large groups of muscles, and the burden on the hips and the spine. In order to strength training, with the aim of maintaining and stimulating bone mineral density had the best effect, it is necessary to include the basic principles of specificity, load and progression. Training should be directed to the adaptation of a specific part of the body, should be sufficiently intense to and beyond the common load, and a variety of progressive enough. Progression loads should be slow and gradual to avoid injury. We assumed that this type of exercise can be achieved by changing the activity of serum matrix metalloproteinases. It has been proven that in the process of remodeling of the extracellular matrix of the bone, matrix-metalloproteinases play an important role, both, the occurrence of bone as well as in pathological processes of bone resorption . Also, it is known that metalloproteinases, particularly the MMP-2 and MMP-9 play a significant role in the development of skeletal muscle recovery from injury or remodeling of the same after exercise.Taking into account the results of the latest studies on the role of metalloproteinases in the development and remodeling of bone, also and muscle, we assumed that the value of metalloproteinases could serve as markers for early assessment of treatment response of patients with osteoporosis. In our study, we will follow the changes of serum levels of metalloproteinases as well as tissue inhibitor of matrix metalloproteinases 1 (TIMP-1) in the serum of patients with postmenopausal osteoporosis, which have prescribed bisphosphonates, before and after application to the specifically designed exercise program . A functional genetic polymorphisms (PM), by modulating the expression of the MMP can be associated with a differential response to the application of our patients of the same exercise program. Specifically designed exercise program in patients with osteoporosis, which affects the increase in BMD and muscle strength, can be associated with a specific MMP genotyp . In our research we will follow the influence of polymorphisms of the mentioned metalloproteinases on the efficacy of the treatment (the specifically designed exercise program ) in patients with postmenopausal osteoporosis.

NCT03816449 Influence of Specifically Designed Exercise Program on Serum Matrix Metalloproteinases and Functional Statu Influence of Specifically Designed Exercise Program on Serum Matrix Metalloproteinases and Functional Status in Women With Postmenopausal Osteoporosis Other: exercises
MeSH: Osteoporosis Osteoporosis, Postmenopausal
HPO: Generalized osteoporosis Osteoporosis

Detection of genotypes for the polymorphisms: rs243866 in the gene for MMP-2 will be effected Real time PCR method with the use of standardized TaqMan®SNP Genotyping assay.. Detection of genotypes of rs3918242 polymorphism in the MMP-9.

The genotypes of rs3918242 polymorphism in the MMP-9 gene will be determined by reaction of the polymerization chain (PCR) and restriction products of the reaction the restriction enzyme.

Primary Outcomes

Description: For the following biochemical parameters, patients will be taken peripheral blood (on an empty stomach), centrifuged at 3000 rpm / min, split up into aliquots (serum and plasma) and kept in the freezer (at -20 ° C) for determination the following parameters.

Measure: Changes in enzyme activity of matrix metalloproteinase-2 , matrix metalloproteinase- 9 and tissue inhibitor of matrix metalloproteinase 1 (TIMP-1) in serum

Time: Change measures ( "baseline , 4 weeks and 12 weeks")

Description: "Timed-Up and Go Test" is an effective method for estimating the motion and function of the musculoskeletal system, in patients with osteoporosis. Performed by being the person required to get up from the chair usual height with backrest (seat height about 46 cm, height of armrest 65 cm) to walk 3 m normal walking speed, turned back to the chair and then sit on the same. Typically this activity is carried out in less than 12 seconds, over this is considered to be an increased risk for the drop and reduced muscle function.

Measure: Functional assessment of the musculoskeletal system using Timed-Up and Go Test" (TUG test)

Time: Change measures ( "baseline , 4 weeks and 12 weeks")

Description: "Chair Rising Test "is a simple test that is used to assess the strength of the lower extremities and is often used for assessing the risk of falls in patients with osteoporosis. It is performed by the request from the person to get up from the chair height and common to sit on the same 5 times as fast as possible, without using hands. His hands were clasped in front of her chest. Inability to 5 times stand up or sit down, or over the test duration of 10 seconds is interpreted as a decrease in muscular strength and increased risk of falling.

Measure: Functional assessment of the musculoskeletal system using "Chair Rising Test ".

Time: Change measures ( "baseline , 4 weeks and 12 weeks")

Description: One-Leg Stance Test" (OLST) is a clinical tool that is used for a quantitative assessment of static balance, and consequently the risk assessment for the pad and the functional dependence. Is performed so that the respondent is required to stand on one foot (dominant) to a stable platform without the support and aids, with eyes open, and the hands to the body, wherein a stop watch measuring time for which the respondent can perform a task in seconds. It will be made of two measurements, wherein the best value is adopted in the assay and assessment of the risk is determined according to the set values for a given age.

Measure: Functional assessment of the musculoskeletal system using "One-Leg Stance Test".

Time: Change measures ( "baseline , 4 weeks and 12 weeks")

Secondary Outcomes

Description: Detection of genotypes for the polymorphisms: rs243866 in the gene for MMP-2 will be effected Real time PCR method with the use of standardized TaqMan®SNP Genotyping assay.

Measure: Detection of genotypes for the polymorphisms: rs243866 in the gene for MMP-2

Time: Change measures ( "baseline and 12 weeks")

Description: The genotypes of rs3918242 polymorphism in the MMP-9 gene will be determined by reaction of the polymerization chain (PCR) and restriction products of the reaction the restriction enzyme. Analysis of the genotypes will be performed after electrophoretic separation in 8% polyacrylamide gels nondenaturated, coloring Sybr®safe DNA stain and illumination under UV transillumination.

Measure: Detection of genotypes of rs3918242 polymorphism in the MMP-9

Time: Change measures ( "baseline and 12 weeks")


HPO Nodes


Osteoporosis
Genes 321
CYP11A1 SNORD116-1 VAMP7 ERCC6 POLR3H GORAB SMS HPGD CANT1 BAZ1B PRKAR1A TENT5A AR CYP27A1 RPL11 SOX9 NSMF RECQL4 HSD3B2 COL2A1 PLOD2 OTX2 AGPAT2 CTC1 GNAS SMS MMP2 GATA4 POF1B POU2AF1 GNAS RFC2 SGMS2 ANTXR2 PEX12 BMP1 TERT FGF8 MKRN3 MMP14 HBB NOP10 NOP10 SLC37A4 NHP2 SRY TWNK GTF2IRD1 NR5A1 MALT1 PROP1 AEBP1 HESX1 CTDP1 IGF1 GNRH1 TERC POLD1 PDE11A TAC3 NSD2 MAP3K1 PARN FGF17 BSCL2 PDE11A CDH23 SH3PXD2B SPRY4 PMM2 TNFSF15 TRMT10A SPIDR COL7A1 RUNX2 CBS POR PWRN1 LRP5 USB1 TINF2 PYCR1 FOXA2 FSHR IFT52 GPR35 PROK2 STAT1 PCCB FSHR ANTXR2 IL17RD PSMC3IP HPGD PLOD1 ZFPM2 TERT SLC7A7 PHGDH SLCO2A1 MLXIPL CDH23 CLIP2 BMP2 GPAA1 EIF2AK3 WNT3A USP8 SPARC ELN COL1A2 PROK2 PRDM5 CAVIN1 PDLIM4 SMPD1 GNRHR KISS1R HS6ST1 LRP5 VPS53 NPM1 LRP6 WDR35 PRKACA SLC25A4 RAB3GAP1 SLC34A1 TBL2 DMRT3 RUNX2 HJV AIP HAMP IFT43 ATP7A COL1A2 SNORD115-1 SPIB ESR1 HSPG2 ELN WDR19 MST1 WNT1 DUSP6 WDR11 NOTCH2 B3GALT6 IFT122 GALNS ARMC5 GNAS TMEM165 ATP7A IL12RB1 MMEL1 MMP1 MRPS22 IFIH1 CAVIN1 EIF2AK3 SMAD3 HERC2 ATP7A LIFR CYP19A1 CHD7 WWOX TNPO3 ABCC9 SNRPN LIFR CYB5A SLC7A7 GTF2I IFT122 TNFRSF11B TACR3 ATP7A FKBP10 ZNF469 HFE LRP5 LMNA IPW POLG2 LAMB3 ERCC6 PROP1 TERC FOS AIP NPAP1 LMNA COL1A1 ABCC9 DUSP6 PIGT CYP17A1 CTC1 TRIP11 NGLY1 TONSL NUP107 MEN1 POLG CAV1 MMP2 LHX4 TNFRSF11B GLI2 NSMF GCM2 PRLR POU1F1 RNU4ATAC GNAS ADAMTS2 CALCR NOTCH2 WRN SC5D NELFA G6PC ADCY10 MMP14 CYP17A1 RTEL1 ANOS1 CCN6 LETM1 SMPD1 GORAB XYLT2 KCNJ8 GLB1 ATP7B LIMK1 NDUFAF1 BANF1 GK BMP15 GPAA1 CHST3 USP8 FLRT3 GALT FBLN5 FKBP10 ARMC5 ALB AKR1D1 RIN2 HSPG2 AR PRKAR1A HSD17B4 NDN MAGEL2 HSD3B7 LAMA3 SOX3 HFE CBS MKRN3-AS1 SP7 ASAH1 TINF2 CDC73 LAMC2 PRKACA PWAR1 ASXL2 PDE8B EFEMP2 MEN1 CYP11B1 CYP11A1 CDH23 WT1 NR0B1 TCF4 CDC73 LMNA SLC25A19 WRAP53 IL12A NHP2 KISS1 ZMPSTE24 PSAT1 ZBTB20 COL1A1 TINF2 FGFR1 DKC1 NR5A1 DKC1 RRM2B PLS3 FGF17 HBB SRC ESR2 WRN PROKR2 TGFBR2 PCCA TNFRSF11A IRF5 CDC73 GNAS FAT4 VDR PPARG SLC9A3R1 B3GAT3 TERT SMAD3 DKK1