CMIP and ATP2C2 modulate phonological short-term memory in language impairment.
CMIP and ATP2C2 modulate phonological short-term memory in language impairment.
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DOI：
10.1016/j.ajhg.2009.07.004
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发表时间：
2009-08
影响因子：
9.8
通讯作者：
Monaco AP
中科院分区：
文献类型：
--
作者：
Newbury DF;Winchester L;Addis L;Paracchini S;Buckingham LL;Clark A;Cohen W;Cowie H;Dworzynski K;Everitt A;Goodyer IM;Hennessy E;Kindley AD;Miller LL;Nasir J;O'Hare A;Shaw D;Simkin Z;Simonoff E;Slonims V;Watson J;Ragoussis J;Fisher SE;Seckl JR;Helms PJ;Bolton PF;Pickles A;Conti-Ramsden G;Baird G;Bishop DV;Monaco AP
特殊性语言障碍（Specific language impairment，SLI）是一种常见的语言发育障碍，其特征是在缺乏明显的解释因素的情况下，语言习得困难。我们进行了一个高密度屏幕的SLI 1，染色体16 q的区域，显示高度显着和一致的连锁非字重复，语音短期记忆的措施，通常是受损的SLI。使用两个独立的语言障碍样本，一个基于家庭的（211个家庭）和另一个根据极端语言措施从人口队列中选出的（490例），我们在SLI 1区域检测到与两个基因的关联：编码c-maf诱导蛋白的（CMIP，在rs6564903处minP = 5.5 × 10−7）和编码钙转运ATP酶，2C型，member 2（ATP 2C 2，在rs 11860694处minP = 2.0 × 10−5）。回归模型表明，这些位点中的每一个都对非词重复能力产生独立的影响。尽管在语言障碍的样本中发现了一致的结果，但在一个大型的研究队列（n = 3612）中没有检测到相关性。因此，我们提出CMIP和ATP 2C 2的变体主要在语言障碍的背景下调节语音短期记忆。因此，这项调查支持的假设，语言障碍的一些原因是不同的因素，影响正常的语言变异。因此，这项工作暗示CMIP和ATP 2C 2在SLI的病因学和语音短期记忆在语言习得中的重要性提供了分子证据。
Specific language impairment (SLI) is a common developmental disorder characterized by difficulties in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. We performed a high-density screen of SLI1, a region of chromosome 16q that shows highly significant and consistent linkage to nonword repetition, a measure of phonological short-term memory that is commonly impaired in SLI. Using two independent language-impaired samples, one family-based (211 families) and another selected from a population cohort on the basis of extreme language measures (490 cases), we detected association to two genes in the SLI1 region: that encoding c-maf-inducing protein (CMIP, minP = 5.5 × 10−7 at rs6564903) and that encoding calcium-transporting ATPase, type2C, member2 (ATP2C2, minP = 2.0 × 10−5 at rs11860694). Regression modeling indicated that each of these loci exerts an independent effect upon nonword repetition ability. Despite the consistent findings in language-impaired samples, investigation in a large unselected cohort (n = 3612) did not detect association. We therefore propose that variants in CMIP and ATP2C2 act to modulate phonological short-term memory primarily in the context of language impairment. As such, this investigation supports the hypothesis that some causes of language impairment are distinct from factors that influence normal language variation. This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition.
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DOI：
10.1084/jem.20030566
发表时间：
2003-09-01
期刊：
The Journal of experimental medicine
影响因子：
--
作者：
Grimbert P;Valanciute A;Audard V;Pawlak A;Le gouvelo S;Lang P;Niaudet P;Bensman A;Guellaën G;Sahali D
通讯作者：
Sahali D
影响因子：
7.6
作者：
Cohen, NJ;Vallance, DD;Isaacson, L
通讯作者：
Isaacson, L
DOI：
10.1016/j.bbrc.2008.03.003
发表时间：
2008-05-09
影响因子：
3.1
作者：
Faddy, Helen M.;Smart, Chanel E.;Monteith, Gregory R.
通讯作者：
Monteith, Gregory R.
影响因子：
5.2
作者：
Jones, RW;Ring, S;Golding, J
通讯作者：
Golding, J
影响因子：
9.8
作者：
Abecasis, GR;Cardon, LR;Cookson, WOC
通讯作者：
Cookson, WOC