Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort.
Carrier status for the common R501X and 2282del4 filaggrin mutations is not associated with hearing phenotypes in 5,377 children from the ALSPAC cohort.
复制标题
DOI：
10.1371/journal.pone.0005784
复制
发表时间：
2009-06-03
期刊：
影响因子：
3.7
通讯作者：
Day IN
中科院分区：
文献类型：
--
作者：
Rodriguez S;Hall AJ;Granell R;McLean WH;Irvine AD;Palmer CN;Smith GD;Henderson J;Day IN
丝聚蛋白是表皮中的主要蛋白质。聚丝蛋白基因（FLG）中的几种突变与许多疾病相关。丝聚蛋白在鼓膜中表达，并可改变其机械特性，但FLG的遗传变异与听力之间的关系尚未得到证实。我们研究了FLG基因中的功能缺失突变R501X和2282del4是否会影响儿童的听力。来自雅芳父母和儿童纵向研究（ALSPAC）队列的5，377名儿童的28个听力变量代表了9岁时听力的5个不同方面，并测试了与这些突变的相关性。没有证据表明R501X或2282del4（或总体FLG突变携带状态）与分析的任何听力表型之间存在关联。总之，常见聚丝蛋白突变的携带者状态不会影响儿童的听力。
Filaggrin is a major protein in the epidermis. Several mutations in the filaggrin gene (FLG) have been associated with a number of conditions. Filaggrin is expressed in the tympanic membrane and could alter its mechanical properties, but the relationship between genetic variation in FLG and hearing has not yet been tested. We examined whether loss-of function mutations R501X and 2282del4 in the FLG gene affected hearing in children. Twenty eight hearing variables representing five different aspects of hearing at age nine years in 5,377 children from the Avon Longitudinal Study of Parents and Children (ALSPAC) cohort were tested for association with these mutations. No evidence of association was found between R501X or 2282del4 (or overall FLG mutation carrier status) and any of the hearing phenotypes analysed. In conclusion, carrier status for common filaggrin mutations does not affect hearing in children.
登录
查看更多内容
影响因子：
5.2
作者：
Jones, RW;Ring, S;Golding, J
通讯作者：
Golding, J
影响因子：
14.2
作者：
Henderson, John;Northstone, Kate;Irvine, Alan D.
通讯作者：
Irvine, Alan D.
影响因子：
30.8
作者：
Palmer, CNA;Irvine, AD;McLean, WHI
通讯作者：
McLean, WHI
影响因子：
5.2
作者：
Gruber, Robert;Janecke, Andreas R.;Schmuth, Matthias
通讯作者：
Schmuth, Matthias
影响因子：
30.8
作者：
Sandilands, Aileen;Terron-Kwiatkowski, Ana;Irvine, Alan D.
通讯作者：
Irvine, Alan D.