No association between polymorphisms in the BDNF gene and age at onset in Huntington disease.
No association between polymorphisms in the BDNF gene and age at onset in Huntington disease.
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DOI：
10.1186/1471-2350-7-79
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发表时间：
2006-11-10
影响因子：
--
通讯作者：
Arning L
中科院分区：
文献类型：
--
作者：
Mai M;Akkad AD;Wieczorek S;Saft C;Andrich J;Kraus PH;Epplen JT;Arning L
最近的证据表明，脑源性神经营养因子（BDNF）是一个有吸引力的候选人，用于修改亨廷顿病（HD）的发病年龄（AO）。特别是，功能性Val66Met多态性似乎发挥了显着的作用。在这里，我们评估BDNF的变异性相对于AO的HD使用标记，代表整个基因座。五个选定的标签多态性基因分型跨越65 kb的区域，包括BDNF基因在一个良好的队列250无关的德国HD患者。此外，BDNF基因型变异或标记单倍型之一的CAG重复长度的效果没有影响的AO的方差。我们无法证实最近报道的BDNF基因功能性Val66Met多态性与HD患者AO之间的关联。从我们的研究结果中，我们得出结论，无论是序列变异或附近的基因有助于显着的方差AO。
Recent evidence suggests that brain-derived neurotrophic factor (BDNF) is an attractive candidate for modifying age at onset (AO) in Huntington disease (HD). In particular, the functional Val66Met polymorphism appeared to exert a significant effect. Here we evaluate BDNF variability with respect to AO of HD using markers that represent the entire locus. Five selected tagging polymorphisms were genotyped across a 65 kb region comprising the BDNF gene in a well established cohort of 250 unrelated German HD patients. Addition of BDNF genotype variations or one of the marker haplotypes to the effect of CAG repeat lengths did not affect the variance of the AO. We were unable to verify a recently reported association between the functional Val66Met polymorphism in the BDNF gene and AO in HD. From our findings, we conclude that neither sequence variations in nor near the gene contribute significantly to the variance of AO.
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影响因子：
5.3
作者：
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通讯作者：
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