脑源性神经营养因子（BDNF）基因多态性与亨廷顿病发病年龄之间无关联。
No association between polymorphisms in the BDNF gene and age at onset in Huntington disease.
作者信息
Mai Maren, Akkad Amer D, Wieczorek Stefan, Saft Carsten, Andrich Jürgen, Kraus Peter H, Epplen Jörg T, Arning Larissa
机构信息
Department of Human Genetics, Ruhr-University, 44780 Bochum, Germany.
出版信息
BMC Med Genet. 2006 Nov 10;7:79. doi: 10.1186/1471-2350-7-79.
BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSION
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.
背景
最近有证据表明，脑源性神经营养因子（BDNF）是改变亨廷顿舞蹈病（HD）发病年龄（AO）的一个有吸引力的候选因素。特别是，功能性Val66Met多态性似乎发挥了显著作用。在这里，我们使用代表整个基因座的标记来评估BDNF与HD发病年龄的变异性。
方法
在一个由250名无亲缘关系的德国HD患者组成的成熟队列中，对包含BDNF基因的65 kb区域内的五个选定标签多态性进行基因分型。
结果
将BDNF基因型变异或其中一种标记单倍型添加到CAG重复长度的影响中，并不影响发病年龄的方差。
结论
我们无法证实最近报道的BDNF基因中功能性Val66Met多态性与HD发病年龄之间的关联。根据我们的研究结果，我们得出结论，该基因内部或附近的序列变异对发病年龄的方差均无显著贡献。
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