TY - JOUR
T1 - Estrogen-related receptor gamma and hearing function
T2 - evidence of a role in humans and mice
AU - Nolan, Lisa S.
AU - Maier, Hannes
AU - Hermans-Borgmeyer, Irm
AU - Girotto, Giorgia
AU - Ecob, Russell
AU - Pirastu, Nicola
AU - Cadge, Barbara A.
AU - Hübner, Christian
AU - Gasparini, Paolo
AU - Strachan, David P.
AU - Davis, Adrian
AU - Dawson, Sally J.
PY - 2013/8
Y1 - 2013/8
N2 - Since estrogen is thought to protect pre-menopausal women from age-related hearing loss, we investigated whether variation in estrogen-signalling genes is linked to hearing status in the 1958 British Birth Cohort. This analysis implicated the estrogen-related receptor gamma (ESRRG) gene in determining adult hearing function and was investigated further in a total of 6134 individuals in 3 independent cohorts: (i) the 1958 British Birth Cohort; (ii) a London ARHL case-control cohort; and (iii) a cohort from isolated populations of Italy and Silk Road countries. Evidence of an association between the minor allele of single nucleotide polymorphism (SNP) rs2818964 and hearing status was found in females, but not in males in 2 of these cohorts: p = 0.0058 (London ARHL) and p = 0.0065 (Carlantino, Italy). Furthermore, assessment of hearing in Esrrg knock-out mice revealed a mild 25-dB hearing loss at 5 weeks of age. At 12 weeks, average hearing thresholds in female mice(-/-) were 15 dB worse than in males(-/-). Together these data indicate ESRRG plays a role in maintenance of hearing in both humans and mice.
AB - Since estrogen is thought to protect pre-menopausal women from age-related hearing loss, we investigated whether variation in estrogen-signalling genes is linked to hearing status in the 1958 British Birth Cohort. This analysis implicated the estrogen-related receptor gamma (ESRRG) gene in determining adult hearing function and was investigated further in a total of 6134 individuals in 3 independent cohorts: (i) the 1958 British Birth Cohort; (ii) a London ARHL case-control cohort; and (iii) a cohort from isolated populations of Italy and Silk Road countries. Evidence of an association between the minor allele of single nucleotide polymorphism (SNP) rs2818964 and hearing status was found in females, but not in males in 2 of these cohorts: p = 0.0058 (London ARHL) and p = 0.0065 (Carlantino, Italy). Furthermore, assessment of hearing in Esrrg knock-out mice revealed a mild 25-dB hearing loss at 5 weeks of age. At 12 weeks, average hearing thresholds in female mice(-/-) were 15 dB worse than in males(-/-). Together these data indicate ESRRG plays a role in maintenance of hearing in both humans and mice.
KW - Age-related hearing loss
KW - ESRRG
KW - Estrogen
KW - Gene
UR - http://www.scopus.com/inward/record.url?scp=84877620653&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84877620653&partnerID=8YFLogxK
U2 - 10.1016/j.neurobiolaging.2013.02.009
DO - 10.1016/j.neurobiolaging.2013.02.009
M3 - Article
C2 - 23540940
AN - SCOPUS:84877620653
VL - 34
JO - Neurobiology of Aging
JF - Neurobiology of Aging
SN - 0197-4580
IS - 8
ER -