Right ventricular hypertrophy secondary to pulmonary hypertension is linked to rat chromosome 17: evaluation of cardiac ryanodine Ryr2 receptor as a candidate

Circulation. 2001 Jan 23;103(3):442-7. doi: 10.1161/01.cir.103.3.442.

Abstract

Background: Fischer 344 (F344) rats are relatively resistant to hypoxia-induced right ventricular (RV) hypertrophy compared with the Wistar-Kyoto (WKY) strain. These 2 strains were used to examine the genetic basis for the differential response.

Methods and results: Male F(2) offspring from an F344xWKY intercross were exposed to hypoxia (10% O(2)) for 3 weeks, and pulmonary artery pressure and cardiac chamber weights were measured. Genomic DNA was screened by use of polymorphic microsatellite markers across the whole genome (excluding the sex chromosomes). A quantitative trait locus (QTL) for RV weight was identified on rat chromosome 17 (lod score 6.5) that accounted for 22% of the total variance of RV weight in the F(2) population and was independent of pulmonary artery pressure. The peak was centered over marker D17Rat41, close to Chrm3, with a 1-lod support interval of 5 cM. Comparison of homologous regions in mice and humans suggested that Ryr2, the cardiac isoform of the ryanodine receptor, colocalizes with our QTL. A panel of somatic cell hybrids and fluorescence in situ hybridization mapped Ryr2 close to the gene Chrm3 within our QTL. [(3)H]Ryanodine binding to cardiac membranes from the parental strains showed a 21% reduction in B(max) in the WKY compared with the F344 strain, with no difference in K:(d).

Conclusions: These data provide the first demonstration of a QTL linked to the RV response to hypoxia-induced pulmonary hypertension. The Ryr2 receptor gene lies within this QTL and merits further investigation as a candidate for this differential RV response.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Body Weight
  • Chromosomes, Human, Pair 17
  • Crosses, Genetic
  • Genetic Linkage
  • Humans
  • Hypertension, Pulmonary / complications*
  • Hypertension, Pulmonary / etiology
  • Hypertension, Pulmonary / genetics
  • Hypertrophy, Right Ventricular / complications*
  • Hypertrophy, Right Ventricular / genetics
  • Hypoxia
  • In Situ Hybridization, Fluorescence
  • Male
  • Myocardium / metabolism
  • Organ Size
  • Phenotype
  • Quantitative Trait, Heritable
  • Radioligand Assay
  • Rats
  • Rats, Inbred F344
  • Rats, Inbred WKY
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Ryanodine Receptor Calcium Release Channel / metabolism

Substances

  • Ryanodine Receptor Calcium Release Channel