Genome sequence analyses identify novel risk loci for multiple system atrophy
Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole...
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| Veröffentlicht in: | Neuron (Cambridge, Mass.) Mass.), 2024-07, Vol.112 (13), p.2142-2156.e5 |
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| creator | Chia, Ruth Ray, Anindita Shah, Zalak Ding, Jinhui Ruffo, Paola Fujita, Masashi Menon, Vilas Reho, Paolo Kaivola, Karri Walton, Ronald L. Reynolds, Regina H. Karra, Ramita Sait, Shaimaa Akcimen, Fulya Diez-Fairen, Monica Alvarez, Ignacio Fanciulli, Alessandra Stefanova, Nadia Seppi, Klaus Duerr, Susanne Leys, Fabian Krismer, Florian Sidoroff, Victoria Zimprich, Alexander Pirker, Walter Rascol, Olivier Foubert-Samier, Alexandra Meissner, Wassilios G. Tison, François Pavy-Le Traon, Anne Pellecchia, Maria Teresa Barone, Paolo Russillo, Maria Claudia Marín-Lahoz, Juan Kulisevsky, Jaime Torres, Soraya Mir, Pablo Periñán, Maria Teresa Proukakis, Christos Chelban, Viorica Goh, Yee Y. Parkkinen, Laura Hu, Michele T. Kobylecki, Christopher Saxon, Jennifer A. Rollinson, Sara Garland, Emily Biaggioni, Italo Litvan, Irene Rubio, Ileana Alcalay, Roy N. Kwei, Kimberly T. Mao, Qinwen Flanagan, Margaret E. Castellani, Rudolph J. Khurana, Vikram Ndayisaba, Alain Calvo, Andrea Mora, Gabriele Canosa, Antonio Floris, Gianluca Bohannan, Ryan C. Moore, Anni Norcliffe-Kaufmann, Lucy Palma, Jose-Alberto Kaufmann, Horacio Kim, Changyoun Iba, Michiyo Masliah, Eliezer Dawson, Ted M. Rosenthal, Liana S. Pantelyat, Alexander Albert, Marilyn S. Pletnikova, Olga Troncoso, Juan C. Infante, Jon Lage, Carmen Sánchez-Juan, Pascual Serrano, Geidy E. Beach, Thomas G. Pastor, Pau Morris, Huw R. Albani, Diego Clarimon, Jordi Hardy, John A. Ryten, Mina Topol, Eric Torkamani, Ali Chiò, Adriano Bennett, David A. De Jager, Philip L. Low, Philip A. Singer, Wolfgang Wszolek, Zbigniew K. Dickson, Dennis W. Gibbs, J. Raphael Dalgard, Clifton L. Ross, Owen A. Houlden, Henry Scholz, Sonja W. |
| description | Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole genome sequence data from 888 European-ancestry MSA cases and 7,128 controls to systematically investigate the genetic underpinnings of this understudied neurodegenerative disease. We identified four significantly associated risk loci using a genome-wide association study approach. Transcriptome-wide association analyses prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes for MSA within these loci, and single-nucleus RNA sequence analysis found that the associated variants acted as cis-expression quantitative trait loci for multiple genes across neuronal and glial cell types. In conclusion, this study highlights the role of genetic determinants in the pathogenesis of MSA, and the publicly available data from this study represent a valuable resource for investigating synucleinopathies.
[Display omitted]
•Generation of a foundational genomic resource in multiple system atrophy•GWAS identifies novel risk loci at GAB1, lnc-LRRC49-3, TENM2, and RABGEF1•Functional genomics implicates USP38-DT, KCTD7, and lnc-KCTD7-2 within these loci•Gene-burden analysis identifies nominal enrichment of rare missense mutations in KCTD7
Chia et al. comprehensively analyzed genome sequence data from patients with multiple system atrophy (MSA) and controls. The study identified four novel risk loci associated with MSA and prioritized significantly associated genes (USP38-DT, KCTD7, and lnc-KCTD7-2) within these loci. This initiative's data constitute a valuable resource for the research community. |
| doi_str_mv | 10.1016/j.neuron.2024.04.002 |
| format | Article |
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Raphael ; Dalgard, Clifton L. ; Ross, Owen A. ; Houlden, Henry ; Scholz, Sonja W.</creator><creatorcontrib>Chia, Ruth ; Ray, Anindita ; Shah, Zalak ; Ding, Jinhui ; Ruffo, Paola ; Fujita, Masashi ; Menon, Vilas ; Reho, Paolo ; Kaivola, Karri ; Walton, Ronald L. ; Reynolds, Regina H. ; Karra, Ramita ; Sait, Shaimaa ; Akcimen, Fulya ; Diez-Fairen, Monica ; Alvarez, Ignacio ; Fanciulli, Alessandra ; Stefanova, Nadia ; Seppi, Klaus ; Duerr, Susanne ; Leys, Fabian ; Krismer, Florian ; Sidoroff, Victoria ; Zimprich, Alexander ; Pirker, Walter ; Rascol, Olivier ; Foubert-Samier, Alexandra ; Meissner, Wassilios G. ; Tison, François ; Pavy-Le Traon, Anne ; Pellecchia, Maria Teresa ; Barone, Paolo ; Russillo, Maria Claudia ; Marín-Lahoz, Juan ; Kulisevsky, Jaime ; Torres, Soraya ; Mir, Pablo ; Periñán, Maria Teresa ; Proukakis, Christos ; Chelban, Viorica ; Goh, Yee Y. ; Parkkinen, Laura ; Hu, Michele T. ; Kobylecki, Christopher ; Saxon, Jennifer A. ; Rollinson, Sara ; Garland, Emily ; Biaggioni, Italo ; Litvan, Irene ; Rubio, Ileana ; Alcalay, Roy N. ; Kwei, Kimberly T. ; Mao, Qinwen ; Flanagan, Margaret E. ; Castellani, Rudolph J. ; Khurana, Vikram ; Ndayisaba, Alain ; Calvo, Andrea ; Mora, Gabriele ; Canosa, Antonio ; Floris, Gianluca ; Bohannan, Ryan C. ; Moore, Anni ; Norcliffe-Kaufmann, Lucy ; Palma, Jose-Alberto ; Kaufmann, Horacio ; Kim, Changyoun ; Iba, Michiyo ; Masliah, Eliezer ; Dawson, Ted M. ; Rosenthal, Liana S. ; Pantelyat, Alexander ; Albert, Marilyn S. ; Pletnikova, Olga ; Troncoso, Juan C. ; Infante, Jon ; Lage, Carmen ; Sánchez-Juan, Pascual ; Serrano, Geidy E. ; Beach, Thomas G. ; Pastor, Pau ; Morris, Huw R. ; Albani, Diego ; Clarimon, Jordi ; Hardy, John A. ; Ryten, Mina ; Topol, Eric ; Torkamani, Ali ; Chiò, Adriano ; Bennett, David A. ; De Jager, Philip L. ; Low, Philip A. ; Singer, Wolfgang ; Wszolek, Zbigniew K. ; Dickson, Dennis W. ; Gibbs, J. Raphael ; Dalgard, Clifton L. ; Ross, Owen A. ; Houlden, Henry ; Scholz, Sonja W.</creatorcontrib><description>Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole genome sequence data from 888 European-ancestry MSA cases and 7,128 controls to systematically investigate the genetic underpinnings of this understudied neurodegenerative disease. We identified four significantly associated risk loci using a genome-wide association study approach. Transcriptome-wide association analyses prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes for MSA within these loci, and single-nucleus RNA sequence analysis found that the associated variants acted as cis-expression quantitative trait loci for multiple genes across neuronal and glial cell types. In conclusion, this study highlights the role of genetic determinants in the pathogenesis of MSA, and the publicly available data from this study represent a valuable resource for investigating synucleinopathies.
[Display omitted]
•Generation of a foundational genomic resource in multiple system atrophy•GWAS identifies novel risk loci at GAB1, lnc-LRRC49-3, TENM2, and RABGEF1•Functional genomics implicates USP38-DT, KCTD7, and lnc-KCTD7-2 within these loci•Gene-burden analysis identifies nominal enrichment of rare missense mutations in KCTD7
Chia et al. comprehensively analyzed genome sequence data from patients with multiple system atrophy (MSA) and controls. The study identified four novel risk loci associated with MSA and prioritized significantly associated genes (USP38-DT, KCTD7, and lnc-KCTD7-2) within these loci. This initiative's data constitute a valuable resource for the research community.</description><identifier>ISSN: 0896-6273</identifier><identifier>ISSN: 1097-4199</identifier><identifier>EISSN: 1097-4199</identifier><identifier>DOI: 10.1016/j.neuron.2024.04.002</identifier><identifier>PMID: 38701790</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>colocalization ; gene-burden analysis ; genome-wide association study ; GWAS ; Life Sciences ; MSA ; multiple system atrophy ; pathway analysis ; repeat expansion mapping ; Santé publique et épidémiologie ; transcriptome-wide association study ; TWAS ; whole genome sequencing</subject><ispartof>Neuron (Cambridge, Mass.), 2024-07, Vol.112 (13), p.2142-2156.e5</ispartof><rights>2024</rights><rights>Published by Elsevier Inc.</rights><rights>Attribution - NonCommercial - 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Florian</creatorcontrib><creatorcontrib>Sidoroff, Victoria</creatorcontrib><creatorcontrib>Zimprich, Alexander</creatorcontrib><creatorcontrib>Pirker, Walter</creatorcontrib><creatorcontrib>Rascol, Olivier</creatorcontrib><creatorcontrib>Foubert-Samier, Alexandra</creatorcontrib><creatorcontrib>Meissner, Wassilios G.</creatorcontrib><creatorcontrib>Tison, François</creatorcontrib><creatorcontrib>Pavy-Le Traon, Anne</creatorcontrib><creatorcontrib>Pellecchia, Maria Teresa</creatorcontrib><creatorcontrib>Barone, Paolo</creatorcontrib><creatorcontrib>Russillo, Maria Claudia</creatorcontrib><creatorcontrib>Marín-Lahoz, Juan</creatorcontrib><creatorcontrib>Kulisevsky, Jaime</creatorcontrib><creatorcontrib>Torres, Soraya</creatorcontrib><creatorcontrib>Mir, Pablo</creatorcontrib><creatorcontrib>Periñán, Maria Teresa</creatorcontrib><creatorcontrib>Proukakis, Christos</creatorcontrib><creatorcontrib>Chelban, Viorica</creatorcontrib><creatorcontrib>Goh, Yee 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Gianluca</creatorcontrib><creatorcontrib>Bohannan, Ryan C.</creatorcontrib><creatorcontrib>Moore, Anni</creatorcontrib><creatorcontrib>Norcliffe-Kaufmann, Lucy</creatorcontrib><creatorcontrib>Palma, Jose-Alberto</creatorcontrib><creatorcontrib>Kaufmann, Horacio</creatorcontrib><creatorcontrib>Kim, Changyoun</creatorcontrib><creatorcontrib>Iba, Michiyo</creatorcontrib><creatorcontrib>Masliah, Eliezer</creatorcontrib><creatorcontrib>Dawson, Ted M.</creatorcontrib><creatorcontrib>Rosenthal, Liana S.</creatorcontrib><creatorcontrib>Pantelyat, Alexander</creatorcontrib><creatorcontrib>Albert, Marilyn S.</creatorcontrib><creatorcontrib>Pletnikova, Olga</creatorcontrib><creatorcontrib>Troncoso, Juan C.</creatorcontrib><creatorcontrib>Infante, Jon</creatorcontrib><creatorcontrib>Lage, Carmen</creatorcontrib><creatorcontrib>Sánchez-Juan, Pascual</creatorcontrib><creatorcontrib>Serrano, Geidy E.</creatorcontrib><creatorcontrib>Beach, Thomas G.</creatorcontrib><creatorcontrib>Pastor, Pau</creatorcontrib><creatorcontrib>Morris, Huw R.</creatorcontrib><creatorcontrib>Albani, Diego</creatorcontrib><creatorcontrib>Clarimon, Jordi</creatorcontrib><creatorcontrib>Hardy, John A.</creatorcontrib><creatorcontrib>Ryten, Mina</creatorcontrib><creatorcontrib>Topol, Eric</creatorcontrib><creatorcontrib>Torkamani, Ali</creatorcontrib><creatorcontrib>Chiò, Adriano</creatorcontrib><creatorcontrib>Bennett, David A.</creatorcontrib><creatorcontrib>De Jager, Philip L.</creatorcontrib><creatorcontrib>Low, Philip A.</creatorcontrib><creatorcontrib>Singer, Wolfgang</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K.</creatorcontrib><creatorcontrib>Dickson, Dennis W.</creatorcontrib><creatorcontrib>Gibbs, J. Raphael</creatorcontrib><creatorcontrib>Dalgard, Clifton L.</creatorcontrib><creatorcontrib>Ross, Owen A.</creatorcontrib><creatorcontrib>Houlden, Henry</creatorcontrib><creatorcontrib>Scholz, Sonja W.</creatorcontrib><title>Genome sequence analyses identify novel risk loci for multiple system atrophy</title><title>Neuron (Cambridge, Mass.)</title><addtitle>Neuron</addtitle><description>Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole genome sequence data from 888 European-ancestry MSA cases and 7,128 controls to systematically investigate the genetic underpinnings of this understudied neurodegenerative disease. We identified four significantly associated risk loci using a genome-wide association study approach. Transcriptome-wide association analyses prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes for MSA within these loci, and single-nucleus RNA sequence analysis found that the associated variants acted as cis-expression quantitative trait loci for multiple genes across neuronal and glial cell types. In conclusion, this study highlights the role of genetic determinants in the pathogenesis of MSA, and the publicly available data from this study represent a valuable resource for investigating synucleinopathies.
[Display omitted]
•Generation of a foundational genomic resource in multiple system atrophy•GWAS identifies novel risk loci at GAB1, lnc-LRRC49-3, TENM2, and RABGEF1•Functional genomics implicates USP38-DT, KCTD7, and lnc-KCTD7-2 within these loci•Gene-burden analysis identifies nominal enrichment of rare missense mutations in KCTD7
Chia et al. comprehensively analyzed genome sequence data from patients with multiple system atrophy (MSA) and controls. The study identified four novel risk loci associated with MSA and prioritized significantly associated genes (USP38-DT, KCTD7, and lnc-KCTD7-2) within these loci. This initiative's data constitute a valuable resource for the research community.</description><subject>colocalization</subject><subject>gene-burden analysis</subject><subject>genome-wide association study</subject><subject>GWAS</subject><subject>Life Sciences</subject><subject>MSA</subject><subject>multiple system atrophy</subject><subject>pathway analysis</subject><subject>repeat expansion mapping</subject><subject>Santé publique et épidémiologie</subject><subject>transcriptome-wide association study</subject><subject>TWAS</subject><subject>whole genome sequencing</subject><issn>0896-6273</issn><issn>1097-4199</issn><issn>1097-4199</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNp9kMFq3DAURUVpSKZp_qAULduFp-_JGmu0KYSQJoUp3bRroZGfiaayNZXsAf99NDjNsiAQSOe-Kx3GPiCsEbD5clgPNKU4rAUIuYayQLxhKwStKolav2Ur2OqmaoSqr9i7nA8AKDcaL9lVvVWASsOK_XigIfbEM_2daHDE7WDDnClz39Iw-m7mQzxR4MnnPzxE53kXE--nMPpjKLk5j9RzO6Z4fJrfs4vOhkw3L_s1-_3t_tfdY7X7-fD97nZXOSnFWFnYAtnaOd04qzpnddtS6_bWSUTtyo0gq1EqvSFBNXbtXqEQYl-erxFFfc0-L3OfbDDH5HubZhOtN4-3O3M-A9mg2iCcsLCfFvaYYvljHk3vs6MQ7EBxyqaGDehaK4CCygV1KeacqHudjWDO0s3BLNLNWXppMUV6iX18aZj2PbWvoX-WC_B1Aag4OXlKJjt_tt36RG40bfT_b3gGu52Veg</recordid><startdate>20240703</startdate><enddate>20240703</enddate><creator>Chia, Ruth</creator><creator>Ray, Anindita</creator><creator>Shah, Zalak</creator><creator>Ding, Jinhui</creator><creator>Ruffo, Paola</creator><creator>Fujita, Masashi</creator><creator>Menon, Vilas</creator><creator>Reho, Paolo</creator><creator>Kaivola, Karri</creator><creator>Walton, Ronald L.</creator><creator>Reynolds, Regina H.</creator><creator>Karra, Ramita</creator><creator>Sait, Shaimaa</creator><creator>Akcimen, Fulya</creator><creator>Diez-Fairen, Monica</creator><creator>Alvarez, Ignacio</creator><creator>Fanciulli, Alessandra</creator><creator>Stefanova, Nadia</creator><creator>Seppi, Klaus</creator><creator>Duerr, Susanne</creator><creator>Leys, Fabian</creator><creator>Krismer, Florian</creator><creator>Sidoroff, Victoria</creator><creator>Zimprich, Alexander</creator><creator>Pirker, Walter</creator><creator>Rascol, Olivier</creator><creator>Foubert-Samier, Alexandra</creator><creator>Meissner, Wassilios G.</creator><creator>Tison, François</creator><creator>Pavy-Le Traon, Anne</creator><creator>Pellecchia, Maria Teresa</creator><creator>Barone, Paolo</creator><creator>Russillo, Maria Claudia</creator><creator>Marín-Lahoz, Juan</creator><creator>Kulisevsky, Jaime</creator><creator>Torres, Soraya</creator><creator>Mir, Pablo</creator><creator>Periñán, Maria Teresa</creator><creator>Proukakis, Christos</creator><creator>Chelban, Viorica</creator><creator>Goh, Yee Y.</creator><creator>Parkkinen, Laura</creator><creator>Hu, Michele T.</creator><creator>Kobylecki, Christopher</creator><creator>Saxon, Jennifer A.</creator><creator>Rollinson, Sara</creator><creator>Garland, Emily</creator><creator>Biaggioni, Italo</creator><creator>Litvan, Irene</creator><creator>Rubio, Ileana</creator><creator>Alcalay, Roy N.</creator><creator>Kwei, Kimberly T.</creator><creator>Mao, Qinwen</creator><creator>Flanagan, Margaret E.</creator><creator>Castellani, Rudolph J.</creator><creator>Khurana, Vikram</creator><creator>Ndayisaba, Alain</creator><creator>Calvo, Andrea</creator><creator>Mora, Gabriele</creator><creator>Canosa, Antonio</creator><creator>Floris, Gianluca</creator><creator>Bohannan, Ryan C.</creator><creator>Moore, Anni</creator><creator>Norcliffe-Kaufmann, Lucy</creator><creator>Palma, Jose-Alberto</creator><creator>Kaufmann, Horacio</creator><creator>Kim, Changyoun</creator><creator>Iba, Michiyo</creator><creator>Masliah, Eliezer</creator><creator>Dawson, Ted M.</creator><creator>Rosenthal, Liana S.</creator><creator>Pantelyat, Alexander</creator><creator>Albert, Marilyn S.</creator><creator>Pletnikova, Olga</creator><creator>Troncoso, Juan C.</creator><creator>Infante, Jon</creator><creator>Lage, Carmen</creator><creator>Sánchez-Juan, Pascual</creator><creator>Serrano, Geidy E.</creator><creator>Beach, Thomas G.</creator><creator>Pastor, Pau</creator><creator>Morris, Huw R.</creator><creator>Albani, Diego</creator><creator>Clarimon, Jordi</creator><creator>Hardy, John A.</creator><creator>Ryten, Mina</creator><creator>Topol, Eric</creator><creator>Torkamani, Ali</creator><creator>Chiò, Adriano</creator><creator>Bennett, David A.</creator><creator>De Jager, Philip L.</creator><creator>Low, Philip A.</creator><creator>Singer, Wolfgang</creator><creator>Wszolek, Zbigniew K.</creator><creator>Dickson, Dennis W.</creator><creator>Gibbs, J. Raphael</creator><creator>Dalgard, Clifton L.</creator><creator>Ross, Owen A.</creator><creator>Houlden, Henry</creator><creator>Scholz, Sonja W.</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>6I.</scope><scope>AAFTH</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>1XC</scope><scope>VOOES</scope><orcidid>https://orcid.org/0000-0002-6623-0429</orcidid></search><sort><creationdate>20240703</creationdate><title>Genome sequence analyses identify novel risk loci for multiple system atrophy</title><author>Chia, Ruth ; Ray, Anindita ; Shah, Zalak ; Ding, Jinhui ; Ruffo, Paola ; Fujita, Masashi ; Menon, Vilas ; Reho, Paolo ; Kaivola, Karri ; Walton, Ronald L. ; Reynolds, Regina H. ; Karra, Ramita ; Sait, Shaimaa ; Akcimen, Fulya ; Diez-Fairen, Monica ; Alvarez, Ignacio ; Fanciulli, Alessandra ; Stefanova, Nadia ; Seppi, Klaus ; Duerr, Susanne ; Leys, Fabian ; Krismer, Florian ; Sidoroff, Victoria ; Zimprich, Alexander ; Pirker, Walter ; Rascol, Olivier ; Foubert-Samier, Alexandra ; Meissner, Wassilios G. ; Tison, François ; Pavy-Le Traon, Anne ; Pellecchia, Maria Teresa ; Barone, Paolo ; Russillo, Maria Claudia ; Marín-Lahoz, Juan ; Kulisevsky, Jaime ; Torres, Soraya ; Mir, Pablo ; Periñán, Maria Teresa ; Proukakis, Christos ; Chelban, Viorica ; Goh, Yee Y. ; Parkkinen, Laura ; Hu, Michele T. ; Kobylecki, Christopher ; Saxon, Jennifer A. ; Rollinson, Sara ; Garland, Emily ; Biaggioni, Italo ; Litvan, Irene ; Rubio, Ileana ; Alcalay, Roy N. ; Kwei, Kimberly T. ; Mao, Qinwen ; Flanagan, Margaret E. ; Castellani, Rudolph J. ; Khurana, Vikram ; Ndayisaba, Alain ; Calvo, Andrea ; Mora, Gabriele ; Canosa, Antonio ; Floris, Gianluca ; Bohannan, Ryan C. ; Moore, Anni ; Norcliffe-Kaufmann, Lucy ; Palma, Jose-Alberto ; Kaufmann, Horacio ; Kim, Changyoun ; Iba, Michiyo ; Masliah, Eliezer ; Dawson, Ted M. ; Rosenthal, Liana S. ; Pantelyat, Alexander ; Albert, Marilyn S. ; Pletnikova, Olga ; Troncoso, Juan C. ; Infante, Jon ; Lage, Carmen ; Sánchez-Juan, Pascual ; Serrano, Geidy E. ; Beach, Thomas G. ; Pastor, Pau ; Morris, Huw R. ; Albani, Diego ; Clarimon, Jordi ; Hardy, John A. ; Ryten, Mina ; Topol, Eric ; Torkamani, Ali ; Chiò, Adriano ; Bennett, David A. ; De Jager, Philip L. ; Low, Philip A. ; Singer, Wolfgang ; Wszolek, Zbigniew K. ; Dickson, Dennis W. ; Gibbs, J. Raphael ; Dalgard, Clifton L. ; Ross, Owen A. ; Houlden, Henry ; Scholz, Sonja W.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c442t-a080ea3cc96ca7fca9ddedcbac4119ca3c2ea914795e2e31fdb71222b45991123</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>colocalization</topic><topic>gene-burden analysis</topic><topic>genome-wide association study</topic><topic>GWAS</topic><topic>Life Sciences</topic><topic>MSA</topic><topic>multiple system atrophy</topic><topic>pathway analysis</topic><topic>repeat expansion mapping</topic><topic>Santé publique et épidémiologie</topic><topic>transcriptome-wide association study</topic><topic>TWAS</topic><topic>whole genome sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chia, Ruth</creatorcontrib><creatorcontrib>Ray, Anindita</creatorcontrib><creatorcontrib>Shah, 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C.</creatorcontrib><creatorcontrib>Moore, Anni</creatorcontrib><creatorcontrib>Norcliffe-Kaufmann, Lucy</creatorcontrib><creatorcontrib>Palma, Jose-Alberto</creatorcontrib><creatorcontrib>Kaufmann, Horacio</creatorcontrib><creatorcontrib>Kim, Changyoun</creatorcontrib><creatorcontrib>Iba, Michiyo</creatorcontrib><creatorcontrib>Masliah, Eliezer</creatorcontrib><creatorcontrib>Dawson, Ted M.</creatorcontrib><creatorcontrib>Rosenthal, Liana S.</creatorcontrib><creatorcontrib>Pantelyat, Alexander</creatorcontrib><creatorcontrib>Albert, Marilyn S.</creatorcontrib><creatorcontrib>Pletnikova, Olga</creatorcontrib><creatorcontrib>Troncoso, Juan C.</creatorcontrib><creatorcontrib>Infante, Jon</creatorcontrib><creatorcontrib>Lage, Carmen</creatorcontrib><creatorcontrib>Sánchez-Juan, Pascual</creatorcontrib><creatorcontrib>Serrano, Geidy E.</creatorcontrib><creatorcontrib>Beach, Thomas G.</creatorcontrib><creatorcontrib>Pastor, Pau</creatorcontrib><creatorcontrib>Morris, Huw R.</creatorcontrib><creatorcontrib>Albani, Diego</creatorcontrib><creatorcontrib>Clarimon, Jordi</creatorcontrib><creatorcontrib>Hardy, John A.</creatorcontrib><creatorcontrib>Ryten, Mina</creatorcontrib><creatorcontrib>Topol, Eric</creatorcontrib><creatorcontrib>Torkamani, Ali</creatorcontrib><creatorcontrib>Chiò, Adriano</creatorcontrib><creatorcontrib>Bennett, David A.</creatorcontrib><creatorcontrib>De Jager, Philip L.</creatorcontrib><creatorcontrib>Low, Philip A.</creatorcontrib><creatorcontrib>Singer, Wolfgang</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K.</creatorcontrib><creatorcontrib>Dickson, Dennis W.</creatorcontrib><creatorcontrib>Gibbs, J. Raphael</creatorcontrib><creatorcontrib>Dalgard, Clifton L.</creatorcontrib><creatorcontrib>Ross, Owen A.</creatorcontrib><creatorcontrib>Houlden, Henry</creatorcontrib><creatorcontrib>Scholz, Sonja W.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>Hyper Article en Ligne (HAL) (Open Access)</collection><jtitle>Neuron (Cambridge, Mass.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chia, Ruth</au><au>Ray, Anindita</au><au>Shah, Zalak</au><au>Ding, Jinhui</au><au>Ruffo, Paola</au><au>Fujita, Masashi</au><au>Menon, Vilas</au><au>Reho, Paolo</au><au>Kaivola, Karri</au><au>Walton, Ronald L.</au><au>Reynolds, Regina H.</au><au>Karra, Ramita</au><au>Sait, Shaimaa</au><au>Akcimen, Fulya</au><au>Diez-Fairen, Monica</au><au>Alvarez, Ignacio</au><au>Fanciulli, Alessandra</au><au>Stefanova, Nadia</au><au>Seppi, Klaus</au><au>Duerr, Susanne</au><au>Leys, Fabian</au><au>Krismer, Florian</au><au>Sidoroff, Victoria</au><au>Zimprich, Alexander</au><au>Pirker, Walter</au><au>Rascol, Olivier</au><au>Foubert-Samier, Alexandra</au><au>Meissner, Wassilios G.</au><au>Tison, François</au><au>Pavy-Le Traon, Anne</au><au>Pellecchia, Maria Teresa</au><au>Barone, Paolo</au><au>Russillo, Maria Claudia</au><au>Marín-Lahoz, Juan</au><au>Kulisevsky, Jaime</au><au>Torres, Soraya</au><au>Mir, Pablo</au><au>Periñán, Maria Teresa</au><au>Proukakis, Christos</au><au>Chelban, Viorica</au><au>Goh, Yee Y.</au><au>Parkkinen, Laura</au><au>Hu, Michele T.</au><au>Kobylecki, Christopher</au><au>Saxon, Jennifer A.</au><au>Rollinson, Sara</au><au>Garland, Emily</au><au>Biaggioni, Italo</au><au>Litvan, Irene</au><au>Rubio, Ileana</au><au>Alcalay, Roy N.</au><au>Kwei, Kimberly T.</au><au>Mao, Qinwen</au><au>Flanagan, Margaret E.</au><au>Castellani, Rudolph J.</au><au>Khurana, Vikram</au><au>Ndayisaba, Alain</au><au>Calvo, Andrea</au><au>Mora, Gabriele</au><au>Canosa, Antonio</au><au>Floris, Gianluca</au><au>Bohannan, Ryan C.</au><au>Moore, Anni</au><au>Norcliffe-Kaufmann, Lucy</au><au>Palma, Jose-Alberto</au><au>Kaufmann, Horacio</au><au>Kim, Changyoun</au><au>Iba, Michiyo</au><au>Masliah, Eliezer</au><au>Dawson, Ted M.</au><au>Rosenthal, Liana S.</au><au>Pantelyat, Alexander</au><au>Albert, Marilyn S.</au><au>Pletnikova, Olga</au><au>Troncoso, Juan C.</au><au>Infante, Jon</au><au>Lage, Carmen</au><au>Sánchez-Juan, Pascual</au><au>Serrano, Geidy E.</au><au>Beach, Thomas G.</au><au>Pastor, Pau</au><au>Morris, Huw R.</au><au>Albani, Diego</au><au>Clarimon, Jordi</au><au>Hardy, John A.</au><au>Ryten, Mina</au><au>Topol, Eric</au><au>Torkamani, Ali</au><au>Chiò, Adriano</au><au>Bennett, David A.</au><au>De Jager, Philip L.</au><au>Low, Philip A.</au><au>Singer, Wolfgang</au><au>Wszolek, Zbigniew K.</au><au>Dickson, Dennis W.</au><au>Gibbs, J. Raphael</au><au>Dalgard, Clifton L.</au><au>Ross, Owen A.</au><au>Houlden, Henry</au><au>Scholz, Sonja W.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genome sequence analyses identify novel risk loci for multiple system atrophy</atitle><jtitle>Neuron (Cambridge, Mass.)</jtitle><addtitle>Neuron</addtitle><date>2024-07-03</date><risdate>2024</risdate><volume>112</volume><issue>13</issue><spage>2142</spage><epage>2156.e5</epage><pages>2142-2156.e5</pages><issn>0896-6273</issn><issn>1097-4199</issn><eissn>1097-4199</eissn><abstract>Multiple system atrophy (MSA) is an adult-onset, sporadic synucleinopathy characterized by parkinsonism, cerebellar ataxia, and dysautonomia. The genetic architecture of MSA is poorly understood, and treatments are limited to supportive measures. Here, we performed a comprehensive analysis of whole genome sequence data from 888 European-ancestry MSA cases and 7,128 controls to systematically investigate the genetic underpinnings of this understudied neurodegenerative disease. We identified four significantly associated risk loci using a genome-wide association study approach. Transcriptome-wide association analyses prioritized USP38-DT, KCTD7, and lnc-KCTD7-2 as novel susceptibility genes for MSA within these loci, and single-nucleus RNA sequence analysis found that the associated variants acted as cis-expression quantitative trait loci for multiple genes across neuronal and glial cell types. In conclusion, this study highlights the role of genetic determinants in the pathogenesis of MSA, and the publicly available data from this study represent a valuable resource for investigating synucleinopathies.
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•Generation of a foundational genomic resource in multiple system atrophy•GWAS identifies novel risk loci at GAB1, lnc-LRRC49-3, TENM2, and RABGEF1•Functional genomics implicates USP38-DT, KCTD7, and lnc-KCTD7-2 within these loci•Gene-burden analysis identifies nominal enrichment of rare missense mutations in KCTD7
Chia et al. comprehensively analyzed genome sequence data from patients with multiple system atrophy (MSA) and controls. The study identified four novel risk loci associated with MSA and prioritized significantly associated genes (USP38-DT, KCTD7, and lnc-KCTD7-2) within these loci. This initiative's data constitute a valuable resource for the research community.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>38701790</pmid><doi>10.1016/j.neuron.2024.04.002</doi><orcidid>https://orcid.org/0000-0002-6623-0429</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0896-6273 |
| ispartof | Neuron (Cambridge, Mass.), 2024-07, Vol.112 (13), p.2142-2156.e5 |
| issn | 0896-6273 1097-4199 1097-4199 |
| language | eng |
| recordid | cdi_hal_primary_oai_HAL_hal_04617510v1 |
| source | Elsevier ScienceDirect Journals |
| subjects | colocalization gene-burden analysis genome-wide association study GWAS Life Sciences MSA multiple system atrophy pathway analysis repeat expansion mapping Santé publique et épidémiologie transcriptome-wide association study TWAS whole genome sequencing |
| title | Genome sequence analyses identify novel risk loci for multiple system atrophy |
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