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DOI 10.1016/j.xgen.2023.100316

Медицинская библиотека · Cell genomics · 2023

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.

Kaivola Karri, Chia Ruth, Ding Jinhui, Rasheed Memoona, Fujita Masashi, Menon Vilas, Walton Ronald L, Collins Ryan L, Billingsley Kimberley, Brand Harrison, Talkowski Michael, Zhao Xuefang, Dewan Ramita, Stark Ali, Ray Anindita, Solaiman Sultana, Alvarez Jerez Pilar, Malik Laksh, Dawson Ted M, Rosenthal Liana S, Albert Marilyn S, Pletnikova Olga, Troncoso Juan C, Masellis Mario, Keith Julia, Black Sandra E, Ferrucci Luigi, Resnick Susan M, Tanaka Toshiko, American Genome Center, International LBD Genomics Consortium, International ALS/FTD Consortium, PROSPECT Consortium, Topol Eric, Torkamani Ali, Tienari Pentti, Foroud Tatiana M, Ghetti Bernardino, Landers John E, Ryten Mina, Morris Huw R, Hardy John A, Mazzini Letizia, D'Alfonso Sandra, Moglia Cristina, Calvo Andrea, Serrano Geidy E, Beach Thomas G, Ferman Tanis, Graff-Radford Neill R, Boeve Bradley F, Wszolek Zbigniew K, Dickson Dennis W, Chiò Adriano, Bennett David A, De Jager Philip L, Ross Owen A, Dalgard Clifton L, Gibbs J Raphael, Traynor Bryan J, Scholz Sonja W

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Аннотация

We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer's dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia.

Для цитирования: Kaivola Karri, Chia Ruth, Ding Jinhui, Rasheed Memoona, Fujita Masashi, Menon Vilas, Walton Ronald L, Collins Ryan L, Billingsley Kimberley, Brand Harrison, Talkowski Michael, Zhao Xuefang, Dewan Ramita, Stark Ali, Ray Anindita, Solaiman Sultana, Alvarez Jerez Pilar, Malik Laksh, Dawson Ted M, Rosenthal Liana S, Albert Marilyn S, Pletnikova Olga, Troncoso Juan C, Masellis Mario, Keith Julia, Black Sandra E, Ferrucci Luigi, Resnick Susan M, Tanaka Toshiko, American Genome Center, International LBD Genomics Consortium, International ALS/FTD Consortium, PROSPECT Consortium, Topol Eric, Torkamani Ali, Tienari Pentti, Foroud Tatiana M, Ghetti Bernardino, Landers John E, Ryten Mina, Morris Huw R, Hardy John A, Mazzini Letizia, D'Alfonso Sandra, Moglia Cristina, Calvo Andrea, Serrano Geidy E, Beach Thomas G, Ferman Tanis, Graff-Radford Neill R, Boeve Bradley F, Wszolek Zbigniew K, Dickson Dennis W, Chiò Adriano, Bennett David A, De Jager Philip L, Ross Owen A, Dalgard Clifton L, Gibbs J Raphael, Traynor Bryan J, Scholz Sonja W. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.. Cell genomics. 2023. DOI: 10.1016/j.xgen.2023.100316.
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