Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India
Modulation of age at onset in Huntington's disease and spinocerebellar ataxia type 2 patients originated from eastern India
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DOI：
10.1016/s0304-3940(03)00436-1
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发表时间：
2003-07-17
影响因子：
2.5
通讯作者：
Bhattacharyya, NP
中科院分区：
文献类型：
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作者：
Chattopadhyay, B;Ghosh, S;Bhattacharyya, NP
为了确定可能改变亨廷顿病（HD）发病年龄的遗传修饰因子，我们分析了77例HD患者和正常人的GluR 6红藻氨酸受体（GluR 6）、CA 150基因、Delta2642和亨廷顿蛋白（htt）基因多态性CCG重复变异。此外，在30个脊髓小脑性共济失调（SCA 2）患者和正常人的RAII基因的变异进行了分析，以显示发病年龄的可能影响。多元回归分析表明，GluR6和CCG重复基因型的变异可能分别解释HD发病年龄变异的6.2%和3.1%。SCA2患者的类似分析表明，RAII可能解释约13%的发病年龄变异性。GluR6和CA150位点的等位基因仅在HD患者中发现。(C)2003爱思唯尔科学爱尔兰有限公司保留所有权利。
To identify the genetic modifier(s) that might alter the age at onset in Huntington's disease (HD) we have analyzed variations in GluR6 kainate receptor (GluR6), CA 150 gene, Delta2642 and polymorphic CCG repeat variation in huntingtin (htt) gene in 77 HD patients and normal individuals. In addition, variation in the RAII gene was analyzed in 30 spinocerebellar ataxia (SCA2) patients and normal individuals to show the possible influence on the age at onset. Multiple regression analysis indicated that variation in GluR6 and CCG repeat genotype might explain 6.2% and 3.1%, respectively, of the variability in the age at onset in HD. Similar analysis with SCA2 patients indicated that RAII might explain about 13% of the variability in the age at onset. Specific alleles in GluR6 and CA150 locus were only observed in HD patients. (C) 2003 Elsevier Science Ireland Ltd. All rights reserved.