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Report for Clinical Trial NCT01411046

Developed by Shray Alag, 2020.
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 136
SNRPN CYP11A1 SNORD116-1 VAMP7 NFKB2 PCSK1 TXNRD2 PEX1 SGPL1 IARS2 PEX14 BCOR HSD11B2 SOX9 SMARCB1 PEX2 TRNH HSD3B2 AIRE PEX10 CYP11B2 IPW GATA4 LHX4 NF2 PEX1 ND4 NPAP1 NNT PEX13 MCM4 TRNL1 CYP17A1 MKRN3 TXNRD2 LIPA ABCD1 PEX5 AAAS PEX12 PEX13 TCTN3 SRY TRNQ PCSK1 NR5A1 PEX19 TRNS2 AAAS RBM28 MAP3K1 PEX10 POMC HSD11B2 PEX6 CDH23 TRNS1 NR3C2 PEX3 PEX5 POR RBM28 PEX11B BRAF PWRN1 GK GLI3 MRAP SCNN1B AIRE CYP11A1 PEX14 ABCC8 PEX3 ZFPM2 NR0B1 NDN COX1 MAGEL2 SAA1 CDH23 MKRN3-AS1 STAR MRAP CTNNB1 TRNF PEX16 PEX19 PEX16 ND1 NR3C1 PWAR1 PEX12 TRNW COX3 CYP11B2 SAMD9 MEN1 CYP11B1 MC2R CYP11A1 PEX26 PEX2 WT1 NR0B1 PEX5 PEX6 GMPPA COX2 PDGFB DMRT3 PEX6 AIP TBX19 SNORD115-1 GLI3 MC2R POMC HBB SUFU KCNJ11 CYP11B2 ND6 PEX26 PEX11B TRAPPC11 MRPS7 STEAP3 ND5 PROP1 TBX19 HSD17B4 CYP11B1 HERC2 NFKB2 WWOX
Arthritis
Genes 263
COL5A2 HPGD COL1A1 CANT1 HJV TRPV4 CCR1 HNF1B PTPN2 LACC1 BTK TFR2 HOXD10 CLCN7 COL9A2 PTPN22 MMP2 NLRP3 STAT4 GHR RNF168 TREX1 COL9A3 PADI4 SLC40A1 WIPF1 COL2A1 MMP14 RASGRP1 PRKCD SEC61A1 SLC37A4 COL2A1 HNF1B TBX1 PTPN22 STAT4 MEFV AEBP1 COL2A1 IL2RB HLA-DRB1 HGD PSTPIP1 ANKRD55 FBN1 GBA HPGD CCN6 ANKRD55 FGFR3 NOD2 ACAN COMP HPRT1 AGA IRF5 NLRC4 MUC1 IL12B GNAS HPGD MATN3 CASP10 ASAH1 COMP MYH14 HIRA SLCO2A1 SLC22A4 HLA-B FRZB CD244 PRG4 COL11A2 LMX1B TNFRSF1A ACAN TGFB3 STAT4 COL11A1 IL10 MEFV LRP6 RAG2 IFIH1 TRAPPC2 LBR IL10 COL5A1 IGHM LEMD3 HLA-DRB1 DNASE1 COMP SH3KBP1 NFKBIL1 IL12A-AS1 IL12A ARVCF COL2A1 CLCN7 IL23R KIF7 DNASE1L3 SEC24C IL6 FCGR2A COL9A3 SLC37A4 AIP SPTB HPRT1 GDF5 COL2A1 JMJD1C TCF3 IL2RB COMP HLA-B TRAPPC2 COL5A1 HNF4A F9 COMT UFD1 SMAD3 STAT3 HPRT1 HGD SPTA1 GJB6 ATP7B COL9A1 F8 BLNK PTPN22 APOE UMOD TREX1 MMP13 ZNF687 NLRP3 GJB2 PSMB9 PTPN22 TF CD79B COL2A1 MMP13 LMNA UFSP2 ERAP1 LRBA COPA CCR6 COL9A2 ABCG8 TRPS1 CD247 MIF C1R GP1BB PFKM LRRC8A FAS PHEX UMOD ANKH G6PC FCGR2B COL2A1 CCN6 IGLL1 CAV1 PSTPIP1 NLRP12 KIF22 ANKH SPP1 ATP7B CTLA4 CD79A SLC4A1 RNASEH2B EPCAM FAS NLRP3 CCN2 WAS COL1A1 PSMB4 UFSP2 TLR4 STAT4 MVK ACP5 MATN3 HPRT1 SLC12A3 BTK MTHFD1 ADA2 RAG1 PIK3R1 SCARB2 OCRL ADAR HLA-DRB1 RREB1 COL11A2 RNASEH2C PTPN22 GPR101 IL36RN CIITA C1QA SLC26A2 NLRP3 PHEX RNASEH2A KLRC4 COL2A1 ZMPSTE24 CD247 CFI UBAC2 BTK HLA-B DNAJB11 GCH1 FAS C4A COL11A2 EPB42 PRPS1 IRAK1 EXT2 MEFV MEFV GLA ACAN FASLG MVK MATN3 CLCNKB IL2RA EXT1 ASPN COL3A1 IL2RA TBX1 COL9A1 NOD2 HLA-C COL2A1 ANK1 TRPV4 SAMHD1 PTPN2 SMAD3 MLX DCLRE1C
Polyarticular arthritis
Genes 13
ANKRD55 IL2RB ENPP1 NOD2 STAT4 TNFAIP3 IL2RA NLRP1 DMP1 PTPN22 CD247 PTPN2 MEFV
Rheumatoid arthritis
Genes 28
NFKBIL1 ACP5 PTPN2 LACC1 IL2RB SLC22A4 IL6 HLA-DRB1 PTPN22 CD244 PTPN22 ANKRD55 STAT4 ANKRD55 IL2RB PADI4 PTPN22 IL2RA CIITA STAT4 IL2RA IL10 CD247 PTPN2 CD247 GCH1 MIF DCLRE1C