SNPMiner Trials by Shray Alag


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Report for SNP rs700518

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 CYP19A1 Gene and Pharmacogenetics of Response

Testosterone (T) replacement prevents bone loss and relieves symptoms associated with androgen deficiency in male patients with hypogonadism, but at the expense of an increase in prostate-related adverse events and in the hematocrit values above the normal which may lead to bad circulatory outcomes. Most of the effects of T on the male skeleton are mediated by its conversion to estradiol (E2) by the enzyme aromatase. Genetic variations in the aromatase (CYP19A1) gene result in enzymes with variable activity and variable levels of E2 and T. This project is designed to determine if genetic variations in the CYP19A1 gene will result in differences in the skeletal response and incidence of side effects from T treatment in patients with low T. A large number of male Veterans are on T. Results from this project will help identify patients who would benefit from the therapy from those at risk for side effects, and would definitely have an impact in the future care of these patients and male patients in general once genetic profiling becomes part of the standard of care.

NCT01378299 Hypogonadism Drug: Testosterone Cypionate
MeSH: Hypogonadism
HPO: Gonadotropin deficiency Hypergonadotropic hypogonadism Hypogonadism Hypogonadotrophic hypogonadism

Percent Change in Bone Mineral Density (BMD) According to rs700518 Polymorphism in the CYP19A1 Gene.

Percent Change in Prostate-specific Antigen (PSA) According to the rs700518 Polymorphism of the CYP19A1 Gene.

Percent Change in Bone Turnover Markers According to the rs700518 Polymorphism of the CYP19A1 Gene.

Primary Outcomes

Description: Percent change in bone mineral density from baseline to 18 months

Measure: Percent Change in Bone Mineral Density (BMD) According to rs700518 Polymorphism in the CYP19A1 Gene

Time: form baseline to 18 months

Description: Percent change in bone mineral density from baseline to 18 months.

Measure: Percent Change in Bone Mineral Density (BMD) According to the rs1062033 Polymorphism in the CYP19A1 Gene

Time: baseline to 18 months

Secondary Outcomes

Description: Percent changes in bone mineral density from baseline

Measure: Percent Change in Bone Mineral Density According to Body Mass Index (BMI)

Time: baseline to 18 months

Description: Percent change in PSA from baseline to 18 months

Measure: Percent Change in Prostate-specific Antigen (PSA) According to the rs700518 Polymorphism of the CYP19A1 Gene

Time: From baseline to 18 months

Description: Percent change in PSA from baseline at 18 months

Measure: Percent Change in Prostate-specific Antigen (PSA) According to the rs1062033 Polymorphism of the CYP19A1 Gene

Time: from baseline to 18 months

Description: Percent change in hematocrit from baseline to 18 months

Measure: Percent Change in Hematocrit According to the Genotype of the 700518 Polymorphism of the CYP19A1gene

Time: baseline to 18 months

Description: Percent change in hematocrit from baseline to 18 months

Measure: Percent Change in Hematocrit According to re1062033 Polymorphism of the CYP19A1 Gene

Time: Baseline to 18 months

Description: Percent change in gene expression from baseline to 18 months

Measure: Percent Change in Aromatase Gene Activity From the Buffy Coat According to the 700518 Polymorphism of the CYP19A1 Gene

Time: Baseline to 6 months

Description: Percent change in bone turnover from baseline to 18 months.

Measure: Percent Change in Bone Turnover Markers According to the rs700518 Polymorphism of the CYP19A1 Gene

Time: Baseline to 18 months

Description: Percent change in bone turnover markers

Measure: Percent Change in Bone Turnover Markers According to the rs1062033 Polymorphism of the CYP19A1 Gene

Time: Baseline to 18 months

Description: Percent change in bone mineral density from baseline to 18 months

Measure: Percent Change in Bone Mineral Density According the Presence of Diabetes Mellitus

Time: Baseline to 18 months

Description: Percent change in bone turnover markers from baseline to 18 months.

Measure: Percent Change in Bone Turnover Markers According the Presence of Diabetes Mellitus

Time: Baseline to 18 months


HPO Nodes


Hypogonadotrophic hypogonadism
Genes 186
SNRPN SNORD116-1 GTF2I PCSK1 FGFR1 RAB3GAP1 HJV TACR3 DMRT1 AXL CTDP1 BAZ1B KRAS RASA2 FLRT3 SEMA3E SMARCB1 NSMF CCDC141 TACR3 TFR2 OTX2 PROK2 IPW PROP1 PLXND1 NF2 HSD17B3 SOS1 DCC PNPLA6 ANOS1 NPAP1 LMNA TYMP RFC2 WDR11 FGFR1 DUSP6 RAD51 RNF216 DNAL4 FGF8 MKRN3 RAF1 FLRT3 FSHB A2ML1 DUSP6 CHD7 LHX4 GLI2 TAC3 SIX6 NSMF POLR3B GNRH1 POLR3A POU1F1 WDR11 PNPLA6 GTF2IRD1 POLR3B PROP1 HESX1 FGF17 TP63 CTDP1 ANK1 GNRH1 SOX9 CHD7 SEMA3E DCAF17 SOX10 DCC RRAS2 TAC3 ANOS1 NSMF FEZF1 CDH23 POLR3B SPRY4 PMM2 LIMK1 SEMA3A RBM28 BRAF PWRN1 LHB CCDC141 FOXA2 PROK2 PNPLA6 CHD7 NR0B1 KISS1R PTPN11 NR0B1 NDN RAB3GAP2 HS6ST1 MAGEL2 PROKR2 SOX3 CDH23 HFE MKRN3-AS1 CLIP2 BMP2 CTNNB1 SPRY4 DUSP6 MAP3K1 SOS2 LAS1L PTCH2 ELN PWAR1 CBX2 RNF216 RRAS PROK2 FGF8 MRAS MEN1 SUFU PNPLA6 GNRHR RNU4ATAC GNRH1 GPR101 KISS1R HS6ST1 SRA1 HESX1 POLR3A WT1 KISS1 ZMPSTE24 LZTR1 TBL2 FGFR1 PDGFB NR5A1 AIP REV3L SNORD115-1 GNRHR IL17RD SPRY4 FEZF1 SEMA3E KISS1 FGF17 TACR3 SOX2 CCDC141 SUFU ANOS1 WDR11 RAB3GAP2 NRAS CHD7 HDAC8 AIP PTCH1 KAT6B PROKR2 PROKR2 SRY NTN1 FGF17 POLR3A GJB2 KISS1R IL17RD DHH BRAF HERC2 RRM2B RIT1 CHD7 POLG FGF8