What question did this study set out to answer?

Identify novel modifier loci that regulate phenotypic variability, survival, and cardiac dysfunction in a murine model of dilated cardiomyopathy.

September 30, 2003Human Molecular GeneticsOpen Access

Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy

View Full Paper

Ask AI

Bookmark

Identify novel modifier loci that regulate phenotypic variability, survival, and cardiac dysfunction in a murine model of dilated cardiomyopathy.
Performed quantitative trait locus (QTL) mapping in transgenic mice with cardiac-specific calsequestrin overexpression displaying strain-dependent disease severity.
Evaluated survival and quantified cardiac function using echocardiographic fractional shortening and left ventricular end-diastolic diameter.
Mapped two loci significantly linked to survival: Hrtfm3 on chromosome 4 (LRS 19.9, LOD score 4.3) and Hrtfm4 on chromosome 18 (LRS 23.6, LOD score 5.1).
Identified Hrtfm5 on chromosome 2 and Hrtfm6 on chromosome 13 as loci linked to fractional shortening (LOD scores 4.8 and 3.3) and left ventricular end-diastolic diameter (LOD scores 5.1 and 4.1), with Hrtfm5 showing no survival linkage.
Detected significant epistatic interactions affecting fractional shortening between Hrtfm4 and both Hrtfm6 (LRS 34.6, LOD score 7.5) and a locus near marker D19Mit88 (LRS 26.5, LOD score 5.8).

No takes yet. Share an insight, caveat, or question.

May guide genetic modifier discovery in HF; leaves open human validation and clinical translation.

Philippe Le Corvoisier (2003) studied this question.

View Full Paper

Ask AI

Bookmark