SNPMiner Trials by Shray Alag


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Report for Mutation R620W

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Analysis of B Cells From Autoimmune Individuals

This observational study aims at finding out if individual with autoimmunity exhibit increased numbers of B cells that express two types (instead of one type) of antibodies, and if B cells of individuals genetically susceptible to autoimmunity display defects in the biological process of tolerance, which removes B cells that participate in autoimmunity.

NCT02747277 Lupus Erythematosus Rheumatoid Arthritis Type 1 Diabetes
MeSH:Arthritis Arthritis, Rheumatoid Diabetes Mellitus, Type 1
HPO:Arthritis Polyarticular arthritis Rheumatoid arthritis Type I diabetes mellitus

Moreover, data will also be stratified in respect to the presence or absence of the PTPN22-R620W allele, which is a risk allele for autoimmunity.. Inclusion Criteria: - Adult Males and Females diagnosed with Lupus; - Adult Females who are pregnant and diagnosed with: - lupus erythematosus - rheumatoid arthritis, or - type 1 diabetes. --- R620W ---

Primary Outcomes

Description: For peripheral adult blood, the main outcome measure is the frequency of κ/λ (kappa to lambda ratios) dual immunoglobulin B cells within the overall B (CD19+ or CD20+) cell population. The collected data will be aggregated as the average frequency of κ/λ B cells in subjects with autoimmunity relative to healthy controls.

Measure: Frequency of kappa to lambda ratios of B cells in blood of autoimmune adults

Time: 1 day

Description: For cord blood samples, the main outcome measurement is the frequency of B cells that express both low levels of CD19 and IgM within the total (CD19+ or CD20+) B cell population. The collected data will be aggregated as the average frequency of CD19low/IgMlow B cells in subjects that were born from autoimmune mothers relative to those born from healthy mothers. Moreover, data will also be stratified in respect to the presence or absence of the PTPN22-R620W allele, which is a risk allele for autoimmunity.

Measure: Frequency of CD19 and IgM low B cells in cord blood of babies born from autoimmune mothers

Time: 1 day


HPO Nodes


HP:0001369: Arthritis
Genes 263
MEFV COL2A1 NLRP3 COL1A1 COL5A1 HLA-DRB1 STAT4 MLX GPR101 IL2RA CLCN7 IL10 KLRC4 SCARB2 NOD2 MUC1 PTPN22 FGFR3 ABCG8 IL12A COPA FASLG SLC12A3 LRRC8A MATN3 COMP OCRL LACC1 IRAK1 RNASEH2B SLC37A4 ZMPSTE24 SPTB MMP13 IL12A-AS1 AGA PSTPIP1 ERAP1 SH3KBP1 TRPV4 CD79B LBR SMAD3 SPTA1 DNASE1L3 HLA-C UFSP2 TGFB3 TBX1 COL2A1 ANKH EPCAM COL2A1 NLRP3 ATP7B PTPN22 IFIH1 CLCNKB MTHFD1 HIRA SLC40A1 MVK TRPS1 GCH1 ANK1 HOXD10 UFD1 COL2A1 CD79A COL11A2 RNASEH2A HPRT1 LRBA FRZB SLC22A4 HGD BLNK PSMB9 GDF5 TCF3 KIF7 GHR HGD CCN6 FAS HLA-B LMNA ACAN CIITA JMJD1C ACAN TRAPPC2 PRG4 ADAR FCGR2A UMOD GNAS KIF22 HPRT1 AEBP1 CD244 CFI MEFV C4A COL9A2 CAV1 IL2RA UBAC2 PTPN22 FCGR2B NLRP3 RAG1 CD247 MATN3 IL23R DCLRE1C LRP6 COL9A3 LMX1B COL11A2 HLA-B SEC24C CLCN7 ADA2 BTK C1R GBA TF MMP13 ANKH PHEX COL2A1 SEC61A1 COL9A2 HLA-DRB1 SLC4A1 SLCO2A1 UFSP2 HNF1B F9 PIK3R1 GLA MMP2 COL3A1 COMP CTLA4 TLR4 COL9A3 COL1A1 ASAH1 STAT4 COL9A1 HPRT1 IL10 GJB6 CD247 COL5A2 CANT1 IL2RB BTK LEMD3 RASGRP1 CASP10 AIP ASPN COMT ACP5 FBN1 SLC26A2 MVK COMP STAT4 ARVCF WAS EPB42 NLRP12 UMOD CCN6 ZNF687 PFKM PTPN2 SLC37A4 PTPN22 TNFRSF1A HNF4A RNASEH2C TFR2 COL5A1 TREX1 COMP PSMB4 DNASE1 DNAJB11 EXT1 NOD2 BTK APOE NLRC4 TRPV4 TBX1 PRKCD COL2A1 F8 TREX1 COL2A1 MYH14 PRPS1 SMAD3 IL36RN HPGD ANKRD55 C1QA SAMHD1 COL11A2 MATN3 EXT2 PHEX RREB1 CCR6 RAG2 ANKRD55 CCN2 HJV MEFV IL12B IRF5 FAS CCR1 COL11A1 STAT4 NFKBIL1 PSTPIP1 COL9A1 TRAPPC2 ACAN G6PC HLA-DRB1 COL2A1 SPP1 IL2RB MMP14 HPGD PADI4 GP1BB RNF168 PTPN22 COL2A1 WIPF1 NLRP3 HPRT1 PTPN2 IGHM FAS GJB2 HPGD STAT3 IGLL1 MEFV IL6 ATP7B HNF1B HLA-B MIF
Protein Mutations 4
A147T N363S R620W V600E