SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT01411046

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Observational Cohort Study on Difference in Glucocorticoid-induced Adrenal Insufficiency in Patients With Rheumatoid Arthritis Related to Different Sensitivity Polymorphisms in the Glucocorticoid Receptor Gene

Development of glucocorticoid (GC)-induced adrenal insufficiency is a serious adverse effect of GC treatment. It is today not possible to predict this adverse effect. The project aims at investigating a possible individual aspect, which may render subjects more or less sensitive to glucocorticoids, and thereby influence development of GC induced adrenal insufficiency. The hypothesis is that subjects with one or another of the polymorphisms in the GC receptor gene will either have increased or diminished GC sensitivity. This may be responsible for differences in development of GC induced adrenal insufficiency.

NCT01411046 Rheumatoid Arthritis
MeSH: Arthritis Arthritis, Rheumatoid Adrenal Insufficiency
HPO: Adrenal insufficiency Arthritis Polyarticular arthritis Rheumatoid arthritis

1 Interventions

Name: Synacthen test

Description: 250 microg Synacthen test, performed fasting, in the morning, starting between 08·00 and 10·30 h, after an overnight fast and a prednisolone pause of approximately 48 hours (depending on normal dose administration time).

Type: Diagnostic Test

RA treated with prednisolone


Primary Outcomes

Description: test for adrenal function by stimulation test (Synacthen test)

Measure: adrenal insufficiency

Time: upon first visit within average 1 month

Secondary Outcomes

Description: test by questionnaires

Measure: quality of life

Time: upon inclusion (baseline)

Description: DXA and bone markers

Measure: Bone Density status

Time: results from latest DXA scan performed in routine settings, bonemarkers upon inclusion (baseline)

Description: BMI, waist-, hip- circumferencia

Measure: body composition

Time: upon inclusion (baselline)

Description: blood lipids, abdominal obesity, blood pressure, fasting plasma glucose

Measure: metabolic syndrome

Time: upon inclusion (baseline)

Time Perspective: Prospective

Case-Control


There is one SNP

SNPs


1 N363S

Patients with or without these polymorphisms were invited to a Synacthen® test, but patients with a mixed hetero- and homozygote genotype were not Exclusion Criteria: - Other major organ disease - Females pregnant - Females not willing to pause estrogen-containing medications 6 weeks prior to Synacthen® test - unable to give a written informed content Rheumatoid Arthritis Arthritis Arthritis, Rheumatoid Adrenal Insufficiency Blood is sampled from patients with rheumatoid arthritis (RA), fulfilling the inclusion criteria and patients are genotyped for the SNPs N363S, BclI, ER22/23EK and 9β and grouped according to haplotypes. --- N363S ---



HPO Nodes


HPO:
Adrenal insufficiency
Genes 99
MKRN3 PCSK1 SNORD115-1 SOX9 TCTN3 TRAPPC11 MAGEL2 SAMD9 WWOX LHX4 CYP11A1 CYP11B1 CYP11B2 CYP17A1 PEX3 MC2R GATA4 WT1 POMC IPW PEX1 AIRE PWRN1 PEX6 POR PEX10 CDH23 PEX12 PEX13 PEX14 MCM4 SRY NDN AIP TXNRD2 RBM28 NR3C1 PEX11B BCOR STAR SNORD116-1 MAP3K1 PEX26 ZFPM2 MKRN3-AS1 MEN1 VANGL2 TBX19 MRPS7 SAA1 LIPA GK AAAS DMRT3 COX1 BRAF COX2 COX3 MTHFR SGPL1 GLI3 ABCC8 MRAP KCNJ11 ND1 NFKB2 ND4 ND5 ND6 VAMP7 NR0B1 NPAP1 PEX19 PEX16 SCNN1B PEX2 PEX5 STEAP3 TRNF NR3C2 NR5A1 HSD3B2 TRNH ABCD1 TRNL1 PWAR1 CTNNB1 HSD11B2 HERC2 TRNQ TRNS1 HSD17B4 TRNS2 TRNW HBB GMPPA NNT SNRPN PROP1
Arthritis
Genes 172
COL2A1 HJV COL3A1 IL10 RNASEH2B GDF5 IL12A RAG1 COL5A1 HGD IL12B RAG2 COL5A2 TREX1 DNAJB11 NLRP12 HNF1B COL9A1 TCF3 COL9A2 COL9A3 COL11A1 COL11A2 ATP7B RNF168 ZMPSTE24 UFSP2 ANK1 WAS COMP COMT WIPF1 MLX HLA-B RNASEH2A ERAP1 LEMD3 SLC26A2 HLA-DRB1 GJB6 MATN3 SPTA1 ACP5 SPTB SH3KBP1 TRPS1 PSMB4 BLNK PSMB9 GBA CASP10 PTPN22 IRF5 SAMHD1 EXT1 GCH1 EXT2 OCRL AIP CAV1 LBR PSTPIP1 APOE PFKM GPR101 RREB1 CFI FAS FASLG HNF4A ADAR ADA2 TF ANKRD55 ANKH F8 SLC40A1 KLRC4 F9 JMJD1C MEFV NLRC4 NLRP3 STAT3 STAT4 SLC4A1 HIRA KIF7 TFR2 NOD2 GHR PHEX TGFB3 CCN6 IFIH1 PTPN2 RASGRP1 GJB2 CD247 FBN1 IL36RN GLA SLC12A3 SEC24C LMNA CLCN7 CLCNKB HOXD10 AEBP1 ARVCF DCLRE1C CANT1 LACC1 MYH14 LMX1B MTHFD1 ASAH1 IL12A-AS1 AGA PIK3R1 ACAN HPGD SLCO2A1 HPRT1 IGHM SCARB2 BTK RNASEH2C UFD1 MIF TLR4 LRRC8A UMOD PRKCD CD79A TRPV4 CD79B CCR1 UBAC2 C4A CCN2 CCR6 FGFR3 IGLL1 GNAS LRBA TNFRSF1A MMP13 MUC1 IL2RA SEC61A1 PRG4 IL2RB EPCAM G6PC TNXB SLC37A4 DNASE1L3 ABCG5 IL6 ABCG8 IL23R TBX1 EPB42 MVK ZNF687 SMAD3 KIF22 GP1BB COL1A1 PRPS1 TRAPPC2
Polyarticular arthritis
Genes 13
IL2RA IL2RB PTPN2 ANKRD55 NLRP1 PTPN22 ENPP1 MEFV CD247 STAT4 TNFAIP3 DMP1 NOD2
Rheumatoid arthritis
Genes 14
DCLRE1C IL2RA IL2RB LACC1 PTPN2 ANKRD55 PTPN22 IL6 GCH1 HLA-DRB1 ACP5 CD247 STAT4 MIF