TY  - JOUR
PY  - 2011//
TI  - The Functional ACTN3 577X Variant Increases the Risk of Falling in Older Females: Results From Two Large Independent Cohort Studies
JO  - Journals of gerontology. Series A: Biological sciences and medical sciences
A1  - Judson, Robert N.
A1  - Wackerhage, Henning
A1  - Hughes, Alun
A1  - Mavroeidi, Alexandra
A1  - Barr, Rebecca J.
A1  - Macdonald, Helen M.
A1  - Ratkevicius, Aivaras
A1  - Reid, David M.
A1  - Hocking, Lynne J.
SP  - 130
EP  - 135
VL  - 66
IS  - 1
N2  - BACKGROUND: Falls among elderly people is a major issue in public health, causing debilitating outcomes including fracture. The identification of genetic risk factors for falling may provide a strategy for effectively targeting falls prevention programs. We investigated whether a common functional variant of skeletal muscle α-actinin-3 (ACTN3 p. R577X) previously associated with impairments in muscle strength, power, and physical functioning represents a risk factor for falls. METHODS: Case-control analysis was conducted using two large cohorts of Caucasian postmenopausal women-the North of Scotland Osteoporosis Study (n = 1,245) and the Aberdeen Prospective Osteoporosis Screening Study (n = 2,918)-for whom self-reported falls status and DNA samples were available. Cross-sectional analysis of fallers versus nonfallers at baseline and follow-up was performed. In addition, individuals who reported having fallen at more than one timepoint (recurrent fallers) were compared with those who reported not falling at any timepoint. RESULTS: Association between R577X genotype and falls was identified and validated. Carriage of 577X (one or two copies) was significantly associated with a 33% (10%-61%) increased risk of falling, with the effect apparent at both baseline and follow-up assessments (meta-analysis p = .003 and p = .02, respectively). No significant effect on recurrent falls was observed. CONCLUSION: This study reports for the first time that the functional ACTN3 R577X genotype represents a genetic risk factor for falling in older females.<p />  <p>Language: en</p>
LA  - en
SN  - 1079-5006
UR  - http://dx.doi.org/10.1093/gerona/glq189
ID  - ref1
ER  -