Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
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info:eu-repo/semantics/openAccessTarih
2020Yazar
Tunca, CerenŞeker, Tuncay
Akçimen, Fulya
Coşkun, Cemre
Bayraktar, Elif
Palvadeau, Robin
Zor, Seyit
Koçoğlu, Cemile
Kartal, Ece
Şen, Nesli Ece
Hamzeiy, Hamid
Özoğuz Erimiş, Aslıhan
Norman, Utku
Karakahya, Oğuzhan
Olgun, Gülden
Akgün, Tahsin
Durmuş, Hacer
Şahin, Erdi
Çakar, Arman
Başar Gürsoy, Esra
Babacan Yıldız, Gülşen
İşak, Barış
Uluç, Kayıhan
Hanağası, Haşmet
Bilgiç, Başar
Turgut, Nilda
Aysal, Fikret
Ertaş, Mustafa
Boz, Cavit
Kotan, Dilcan
İdrisoğlu, Halil
Soysal, Aysun
Uzun Adatepe, Nurten
Akalın, Mehmet Ali
Koç, Filiz
Tan, Ersin
Oflazer, Piraye
Deymeer, Feza
Taştan, Öznur
Çiçek, Ercüment
Kavak, Ersen
Parman, Yeşim
Başak, Nazlı
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Tunca, C., Şeker, T., Akçimen, F., Coşkun, C., Bayraktar, E., Palvadeau, R. ... Başak, N. (2020). Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database. Human Mutation, 41(8), E7-E45. https://dx.doi.org/10.1002/humu.24055Özet
The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with similar to 70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well-established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome-wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease-associated candidates, points to a significant enrichment for cell cycle- and division-related genes. Within this network, literature text-mining highlightsDECR1, ATL1, HDAC2, GEMIN4, andHNRNPA3as important genes. Finally, information on ALS-related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (www.gendal.org).
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Human MutationCilt
41Sayı
8Koleksiyonlar
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