| First Author | Smolock EM | Year | 2012 |
| Journal | Physiol Genomics | Volume | 44 |
| Issue | 13 | Pages | 689-98 |
| PubMed ID | 22589454 | Mgi Jnum | J:190489 |
| Mgi Id | MGI:5448918 | Doi | 10.1152/physiolgenomics.00041.2012 |
| Citation | Smolock EM, et al. (2012) Genetic locus on mouse chromosome 7 controls elevated heart rate. Physiol Genomics 44(13):689-98 |
| abstractText | Elevated heart rate (HR) is a risk factor for cardiovascular diseases. The goal of the study was to map HR trait in mice using quantitative trait locus (QTL) analysis followed by genome-wide association (GWA) analysis. The first approach provides mapping power and the second increases genome resolution. QTL analyses were performed in a C3HeBxSJL backcross. HR and systolic blood pressure (SBP) were measured by the tail-cuff plethysmography. HR was approximately 80 beats/min higher in SJL compared with C3HeB. There was a wide distribution of the HR (536-763 beats/min) in N2 mice. We discovered a highly significant QTL (logarithm of odds = 6.7, P < 0.001) on chromosome 7 (41 cM) for HR in the C3HeBxSJL backcross. In the Hybrid Mouse Diversity Panel (58 strains, n = 5-6/strain) we found that HR (beats/min) ranged from 546 +/- 12 in C58/J to 717 +/- 7 in MA/MyJ mice. SBP (mmHg) ranged from 99 +/- 6 in strain I/LnJ to 151 +/- 4 in strain BXA4/PgnJ. GWA analyses were done using the HMDP, which revealed a locus (64.2-65.1 Mb) on chromosome 7 that colocalized with the QTL for elevated HR found in the C3HeBxSJL backcross. The peak association was observed for 17 SNPs that are localized within three GABA(A) receptor genes. In summary, we used a combined genetic approach to fine map a novel elevated HR locus on mouse chromosome 7. |
