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The epithelial sodium channel y-subunit gene and blood pressure : Family based association, renal gene expression, and physiological analyses

- Büsst, Cara, Bloomer, Lisa, Scurrah, Katrina, Ellis, Justine, Barnes, Timothy, Charchar, Fadi, Braund, Peter, Hopkins, Paul, Samani, Nilesh, Hunt, Steven, Tomaszewski, Maciej, Harrap, Stephen

  • Authors: Büsst, Cara , Bloomer, Lisa , Scurrah, Katrina , Ellis, Justine , Barnes, Timothy , Charchar, Fadi , Braund, Peter , Hopkins, Paul , Samani, Nilesh , Hunt, Steven , Tomaszewski, Maciej , Harrap, Stephen
  • Date: 2011
  • Type: Text , Journal article
  • Relation: Hypertension Vol. 58, no. 6 (2011), p. 1073-1078
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  • Description: Variants in the gene encoding the y-subunit of the epithelial sodium channel (SCNN1G) are associated with both Mendelian and quantitative effects on blood pressure. Here, in 4 cohorts of 1611 white European families composed of a total of 8199 individuals, we undertook staged testing of candidate single-nucleotide polymorphisms for SCNN1G (supplemented with imputation based on data from the 1000 Genomes Project) followed by a meta-analysis in all of the families of the strongest candidate. We also examined relationships between the genotypes and relevant intermediate renal phenotypes, as well as expression of SCNN1G in human kidneys. We found that an intronic single-nucleotide polymorphism of SCNN1G (rs13331086) was significantly associated with age-, sex-, and body mass index-adjusted blood pressure in each of the 4 populations (P<0.05). In an inverse variance-weighted meta-analysis of this single-nucleotide polymorphism in all 4 of the populations, each additional minor allele copy was associated with a 1-mm Hg increase in systolic blood pressure and 0.52-mm Hg increase in diastolic blood pressure (SE=0.33, P=0.002 for systolic blood pressure; SE=0.21, P=0.011 for diastolic blood pressure). The same allele was also associated with higher 12-hour overnight urinary potassium excretion (P=0.04), consistent with increased epithelial sodium channel activity. Renal samples from hypertensive subjects showed a nonsignificant (P=0.07) 1.7-fold higher expression of SCNN1G compared with normotensive controls. These data provide genetic and phenotypic evidence in support of a role for a common genetic variant of SCNN1G in blood pressure determination. © 2011 American Heart Association, Inc.

Greater understanding of normal hip physical function may guide clinicians in providing targeted rehabilitation programmes

- Kemp, Joanne, Schache, Anthony, Makdissi, Michael, Sims, Kevin, Crossley, Kay

  • Authors: Kemp, Joanne , Schache, Anthony , Makdissi, Michael , Sims, Kevin , Crossley, Kay
  • Date: 2013
  • Type: Text , Journal article
  • Relation: Journal of Science and Medicine in Sport Vol. 16, no. 4 (2013), p. 292-296
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  • Description: Objectives: This study investigated tests of hip muscle strength and functional performance. The specific objectives were to: (i) establish intra- and inter-rater reliability; (ii) compare differences between dominant and non-dominant limbs; (iii) compare agonist and antagonist muscle strength ratios; (iv) compare differences between genders; and (v) examine relationships between hip muscle strength, baseline measures and functional performance. Design: Reliability study and cross-sectional analysis of hip strength and functional performance. Methods: In healthy adults aged 18-50. years, normalised hip muscle peak torque and functional performance were evaluated to: (i) establish intra-rater and inter-rater reliability; (ii) analyse differences between limbs, between antagonistic muscle groups and genders; and (iii) associations between strength and functional performance. Results: Excellent reliability (intra-rater ICC = 0.77-0.96; inter-rater ICC = 0.82-0.95) was observed. No difference existed between dominant and non-dominant limbs. Differences in strength existed between antagonistic pairs of muscles: hip abduction was greater than adduction (p < 0.001) and hip ER was greater than IR (p < 0.001). Men had greater ER strength (p = 0.006) and hop for distance (p < 0.001) than women. Strong associations were observed between measures of hip muscle strength (except hip flexion) and age, height, and functional performance. Conclusions: Deficits in hip muscle strength or functional performance may influence hip pain. In order to provide targeted rehabilitation programmes to address patient-specific impairments, and determine when individuals are ready to return to physical activity, clinicians are increasingly utilising tests of hip strength and functional performance. This study provides a battery of reliable, clinically applicable tests which can be used for these purposes. © 2012 Sports Medicine Australia.
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