Project Details
Abstract
Atrial fibrillation (AF) is now recognized to be the most common sustained cardiac
arrhythmia and a major public health burden. Copy number variants (CNVs) account for a
major proportion of human genetic polymorphism and have been predicted to play an
important role in genetic susceptibility to common disease. Both linkage analysis and genetic
association studies have shown that some genetic variants in the genes encoding for subunits
of potassium or sodium channels are associated with familial and common AF. We
hypothesized that the CNVs involving the genes encoding for subunits of potassium or
sodium channels may play an important role in the pathophysiology and the susceptibility of
AF. The goal of this proposal is to utilize a candidate genes case-control approach to
demonstrate that CNVs affecting subunits of potassium or sodium channels genes are
associated with risk of AF.
To achieve this goal, five specific aims are proposed and going to be conducted in the
following three years:
1. Using the Multiplex Ligation-dependent Probe Amplification (MLPA) to detect CNVs in
the exons of KCNQ1, KCNE1, KCNH2, KCNE2, and SCN5A genes to determine the
association between the CNVs of these genes and the risk of AF among Taiwanese.
2. Using the quantitative multiplex PCR of short fluorescent fragment (QMPSF) to confirm
the indentified abnormal exon copy numbers.
3. Using the Array-based comparative genomic hybridization (CGH) analysis to further
map the genomic rearrangement.
4. Using a DNA pooling approach for array CGH to investigate the presence of CNVs
associated with AF in Taiwanese population
5. Using the patch clamp technique to determine whether the identified CNVs are
functional variants.
It is hoped that our study could identify novel genetic risk factors in our Taiwanese
population and also help elucidate the mechanism of atrial fibrillation.
Project IDs
Project ID:PC10108-0732
External Project ID:NSC101-2314-B182-072
External Project ID:NSC101-2314-B182-072
Status | Finished |
---|---|
Effective start/end date | 01/08/12 → 31/07/13 |
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