Variants in the 3′ untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner
Why the study?
Do single nucleotide polymorphisms in the 3'UTR of the KCNQ1 gene modify disease severity in patients with type 1 long QT syndrome?
Population
168 patients with type 1 long QT syndrome
Comparison
Presence of derived SNP variants in the 3'… vs Ancestral SNP variants or different allele…
Design
Cohort
Authors
Discussion
Loading...
Member takes
Implication
May refine LQT1 risk stratification via allele-specific SNPs; hypothesis-generating and needs prospective validation.
Structured PICO
Do single nucleotide polymorphisms in the 3'UTR of the KCNQ1 gene modify disease severity in patients with type 1 long QT syndrome?
P
Population
168 patients with type 1 long QT syndrome (LQT1) (84 from Academic Medical Center in Amsterdam, 84 from Mayo Clinic in Rochester)
I
Intervention
Presence of derived SNP variants (rs2519184, rs8234, and rs10798) in the 3' untranslated region (3'UTR) of the KCNQ1 gene
C
Comparator
Ancestral SNP variants or different allele configurations
O
Outcome
QTc interval and symptom occurrencesurrogate
SNPs in the 3'UTR of the KCNQ1 gene potently modify disease severity in LQT1 in an allele-specific manner by altering gene expression.
Cite This Study
Amin et al. (2011) studied this question.