SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT02747277

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

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, Rheumatoid Diabetes Mellitus, Type 1
HPO: Rheumatoid arthritis Type I diabetes mellitus


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

Time Perspective: Cross-Sectional

Other


There is one SNP

SNPs


1 R620W

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 ---



HPO Nodes


HPO:
Rheumatoid arthritis
Genes 14
DCLRE1C IL2RA IL2RB LACC1 PTPN2 ANKRD55 PTPN22 IL6 GCH1 HLA-DRB1 ACP5 CD247 STAT4 MIF
Type I diabetes mellitus
Genes 39
TTC7A MST1 AIRE DNAJC21 SRP54 TRNE TCF4 TRNF EFL1 HNF1A TRNH TRNL1 KCTD1 PSTPIP1 TRNQ TRNS1 TRNS2 SLC12A3 COX1 STUB1 COX2 COX3 TRNW CLCNKB SLC16A2 EDA EIF2AK3 GPR35 DNAJC3 INS SBDS EDA2R NEUROG3 STAT1 ND1 ND4 ND5 ND6 FOXP3