SNPMiner Trials by Shray Alag


SNPMiner Trials: Clinical Trial Report


Report for Clinical Trial NCT03660696

Developed by Shray Alag, 2019.
SNP Clinical Trial Gene

Qatar Cardiovascular Biorepository-AF (QCBio-AF) Study

Qatar Cardiovascular Biorepsoitory-AF (QCBio-AF) of plasma and DNA of Qatari patients with atrial fibrillation (AF) is to establish. AF cases will include patients with acute and chronic AF identified in the Heart Hospital (HH) arrhythmia clinics and Emergency Room (ER). Controls will include blood donors who have no history of AF. Such a resource will enable validation of biomarkers to assess AF risk, response to therapy, and prognosis. QCBio-AF will also allow genomic, marker and proteomic studies of AF and response to drug therapy (pharmacogenetics and pharmacoproteomics). This study will accomplish the following specific aims: Aim 1: Establish a DNA and plasma biorepository (QCBio-AF) of 300 Qatari AF cases and Family members to enable investigation of genomic and proteomic biomarkers for early detection and prognostication and to identify new targets for drug development. Aim 2: Annotate the biorepository of with 1) demographic, laboratory, and clinical variables derived from the EMR using electronic phenotyping algorithms, and 2) detailed information regarding history of cardiovascular diseases and risk factors derived from patient surveys. Aim 3: Develop processes to promote use of the biorepository by Qatari investigators by facilitating access to the biorepository for biomarker research, while maintaining the highest ethical standards with emphasis on patient confidentiality and stewardship of the biospecimens. Timeline. Following IRB approval, the intended collection period will be over 12 months where 300 Qatari patients with AF and their immediate families will be recruited. Significance: Although atrial fibrillation (AF) is reaching epidemic proportions in the aging U.S. and European populations, the worldwide burden of AF in non-white populations is unknown. Furthermore, a substantial proportion of AF in the population is not explained by traditional risk factors. There is increasing evidence that susceptibility to AF is not only determined by underlying etiologic risk factors but also ethnicity with AF occurring more frequently in white than in non-white populations. While reasons for this ethnic variability are unknown, studies have shown that both common and rare genetic variants increase susceptibility to AF in an individual in the presence of ethnic-specific risk factors.

NCT03660696 Atrial Fibrillation
MeSH: Atrial Fibrillation
HPO: Atrial fibrillation Paroxysmal atrial fibrillation


Primary Outcomes

Description: Establish a DNA and plasma biorepository (QCBio-AF) of 300 Qatari AF cases and Family members to enable investigation of genomic and proteomic biomarkers for early detection and prognostication and to identify new targets for drug development

Measure: Number of KCNQ1 Gene expression in AF

Time: One year

Description: Risk factors for AF in diverse ethnic population

Measure: Incidence of AF in diverse ethnic population

Time: One year

Time Perspective: Cross-Sectional

Family-Based


There is one SNP

SNPs


1 R14C

In 2007, Otway and colleagues identified a KCNQ1 mutation (R14C) in one family with familial AF. --- R14C ---



HPO Nodes


HPO:
Atrial fibrillation
Genes 62
CACNA1C KCNE2 MFAP5 CACNA2D1 TNNI3K FLNC GJA5 NPPA CACNB2 MYH7 MYL4 KCNA5 ANK2 NUP155 LMNA SLC25A4 HCN4 DTNA KCNH2 KCNJ2 FOS KCNJ5 RRM2B POLG SCN1B TLL1 SCN2B MYPN SCN4B AGPAT2 SCN5A MYOZ2 GATAD1 KCNQ1 NKX2-5 ABCC9 TWNK CASQ2 TAB2 XK CAVIN1 BSCL2 TMEM43 GATA5 ACTN2 CAV1 PPARG PRKAG2 TNNC1 DMPK POLG2 TNNI3 SGO1 TNNT2 PLN NEXN TRDN TTN CSRP3 RYR2 SMAD3 TBX5
Paroxysmal atrial fibrillation
Genes 12
CSRP3 KCNJ5 SCN1B SCN2B KCNE2 MYL4 SCN5A ABCC9 KCNA5 PRKAG2 TBX5 KCNJ2