Details

Autor(en) / Beteiligte

• Kaivola, Karri
• Tienari, Pentti J

Titel

Response to the letter by de Boer et al. (2022)

Ist Teil von

• Acta neuropathologica communications, 2022-11, Vol.10 (1), p.173-173, Article 173

Ort / Verlag

England: BioMed Central Ltd

Erscheinungsjahr

2022

Quelle

SpringerLink

Beschreibungen/Notizen

• In our data we did not detect any significant ALS risk with IA genotypes 7–16/7–16 (OR 1.57, 95%CI 0.90–2.62), while an increasing risk of ALS was found with genotypes ≥ 7/≥17, ≥ 7/≥21 and ≥ 7/≥24. [...]IA length influenced the magnitude of the risk and the threshold for significant risk was with the genotype ≥ 7/≥17. [...]according to published data [7, 8], the alleles with 17–19 repeats are more common the UK birth cohort (0.53%) than in the Finnish populations (0.30%). [...]based on the geographic enrichment of longer IAs (≥ 20 repeats) in Finland and increasing haplotypic homogeneity associated with longer IAs, it is possible that these alleles/haplotypes are relevant for disease risk. [...]as discussed by de Boer et al., haplotype heterogeneity is one possibility and further studies are needed to explore which part(s) of these haplotypes are playing a role in ALS/FTD risk. [...]all three studies that reported associations with ALS or FTDs were single-population studies [3, 5,6,, 6].