PMID- 17096834 OWN - NLM STAT- MEDLINE DCOM- 20061121 LR - 20181113 IS - 1471-2350 (Electronic) IS - 1471-2350 (Linking) VI - 7 DP - 2006 Nov 10 TI - No association between polymorphisms in the BDNF gene and age at onset in Huntington disease. PG - 79 AB - 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. FAU - Mai, Maren AU - Mai M AD - Department of Human Genetics, Ruhr-University, 44780 Bochum, Germany. Maren-Mai@gmx.de FAU - Akkad, Amer D AU - Akkad AD FAU - Wieczorek, Stefan AU - Wieczorek S FAU - Saft, Carsten AU - Saft C FAU - Andrich, Jurgen AU - Andrich J FAU - Kraus, Peter H AU - Kraus PH FAU - Epplen, Jorg T AU - Epplen JT FAU - Arning, Larissa AU - Arning L LA - eng PT - Journal Article DEP - 20061110 PL - England TA - BMC Med Genet JT - BMC medical genetics JID - 100968552 RN - 0 (Brain-Derived Neurotrophic Factor) RN - 0 (Codon) RN - AE28F7PNPL (Methionine) RN - HG18B9YRS7 (Valine) SB - IM MH - Adult MH - Age Factors MH - Age of Onset MH - Brain-Derived Neurotrophic Factor/*genetics MH - Codon MH - Humans MH - Huntington Disease/*genetics MH - Methionine/genetics MH - Middle Aged MH - *Polymorphism, Single Nucleotide MH - Trinucleotide Repeats MH - Valine/genetics PMC - PMC1637098 EDAT- 2006/11/14 09:00 MHDA- 2006/12/09 09:00 PMCR- 2006/11/10 CRDT- 2006/11/14 09:00 PHST- 2006/08/08 00:00 [received] PHST- 2006/11/10 00:00 [accepted] PHST- 2006/11/14 09:00 [pubmed] PHST- 2006/12/09 09:00 [medline] PHST- 2006/11/14 09:00 [entrez] PHST- 2006/11/10 00:00 [pmc-release] AID - 1471-2350-7-79 [pii] AID - 10.1186/1471-2350-7-79 [doi] PST - epublish SO - BMC Med Genet. 2006 Nov 10;7:79. doi: 10.1186/1471-2350-7-79.