Previously submitted to: JMIR Research Protocols (no longer under consideration since May 31, 2022)
Date Submitted: Aug 2, 2021
Warning: This is an author submission that is not peer-reviewed or edited. Preprints - unless they show as "accepted" - should not be relied on to guide clinical practice or health-related behavior and should not be reported in news media as established information.
Identification of novel mutations in Emirati subjects with Autosomal Dominant Familial Hypercholesterolemia (ADFH) in the United Arab Emirates by whole exome sequencing (WES): The WORTH study (Whole exOme sequencing of emiRaTi FH subjects)
ABSTRACT
Background:
Familial hypercholesterolemia (FH) is an autosomal-dominant disorder and is characterized by elevated serum levels of low-density lipoprotein cholesterol (LDL-C) that could dramatically increase the risk of developing cardiovascular diseases (CVD). FH is predominantly associated with mutations in three major genes, LDL receptor gene (LDLR), the apolipoprotein B gene (APOB), and the proprotein convertase subtilisin/kexin 9 gene (PCSK9).
Objective:
The aim of the present work will be to identify novel FH-causing genetic variants in Emirati patients diagnosed with autosomal dominant FH, using Simon-Broome diagnostic criteria (SBDC).
Methods:
Genomic DNA will be isolated from 30 patients diagnosed as definite FH using SBDC on the basis of the presence of family history of tendon xanthomas. Genomic DNA will be sheared into 100-400 bp, subjected to Illumina paired-end DNA library preparation, enriched for target sequences and will be sequenced using the HiSeq 2000 platform (Illumina).
Results:
Blood samples from FH-diagnosed Emirati people have been collected. Genomic DNA from 22 people has successfully been isolated, amplified for targeted exons and sent for sequencing.
Conclusions:
This study will prove to be the first step in building an effective cascade screening program for the diagnosis of FH, tailored for the Emirati, population.
Citation
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Copyright
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