Citations 2
Chromosome X-wide association study in multiple system atrophy identifies sex-differential risk loci
Ray, Anindita , Chia, Ruth , Rasheed, Memoona, Ece, Bayram, Jinhui, Ding, Walton, Ronald L., Diez-Fairen, Monica, Álvarez, Ignacio Morales, Fanciulli, Alessandra , Seppi, Mag Klaus, Duerr, Susanne, Leys, Fabian , Krismer, Florian , Sidoroff, Victoria , Pirker, Walter , Rascol, Olivier, Foubert-Samier, Alexandra, Meissner, Wassilios G, Tison, François , Barone, Paolo, Russillo, Maria Claudia, Marín-Lahoz, Juan, Kulisevsky, J, Torres, Soraya, Mir, Pablo, Periñán, María Teresa, Proukakis, C., Goh, Yee Yen, Parkkinen, Laura, Hu, Michele T, Saxon, Jennifer A. , Rollinson, Sara , Garland, Emily M. , Litvan, Irene, Alcalay, Roy N, Kwei, Kimberly , Lubbe, Steven, Mao, Qinwen, Flanagan, Margaret E, Castellani, Rudolph J, Ndayisaba, Alain , Calvo, Andrea, Canosa, Antonio, Bohannan, Ryan C., Norcliffe-Kaufmann, Lucy, Palma, Jose-Alberto, Dawson, Ted M, Albert, Marilyn S, Pletniková, Olga , Troncoso, Juan C, Lage, Carmen , Sánchez-Juan, Pascual, Serrano, Geidy E, Beach, Thomas G, Morris, Huw R, Clarimon, Jordi, Jaunmuktane, Zane, Révész, Tamás, Warner, Tom, Hardy, John A, Ryten, Mina, Ferrucci, Luigi, Topol, Eric, Torkamani, Ali, DeCasien, Alex R, Chiò, Adriano, Low, Philip, Wszolek, Zbigniew K, Dickson, Dennis W., Traynor, Bryan J, Gibbs, J Raphael, Dalgard, Clifton L, Ross, Owen A, Houlden, Henry, Scholz, Sonja W., Hardy, John , Dickson, Dennis W. , Ross, Owen A. , Houlden, Henry , Scholz, Sonja W. , Chia, Ruth , Proukakis, Christos , Dickson, Dennis W , Dalgard, Clifton L , Ross, Owen A , Houlden, Henry , Scholz, Sonja W , Hardy, John , Reynolds, Regina H. , Díez-Fairén, Mónica , Fanciulli, Alessandra , Stefanova, Nadia , Seppi, Klaus , Krismer, Florian, Zimprich, Alexander , Rascol, Olivier , Foubert‐Samier, Alexandra , Meissner, Wassilios G. , Tison, François , Traon, Anne Pavy‐Le , Pellecchia, Maria Teresa , Marín‐Lahoz, Juan , Kulisevsky, Jaime , Mir, Pablo , Chelban, Viorica , Wu, Lesley , Kobylecki, Christopher , Biaggioni, Italo , Litvan, Irene , Rubio, Ileana, Lubbe, Steven , Flanagan, Margaret E , Castellani, Rudolph J. , Khurana, Vikram , Mora, Gabriele , Floris, Gianluca , Moore, Anni K. , Norcliffe‐Kaufmann, Lucy , Palma, Jose-Alberto , Kaufmann, Horacio , Dawson, Ted M , Rosenthal, Liana S. , Pantelyat, Alexander , Troncoso, Juan C. , Infante, Jon , Serrano, Geidy E. , Beach, Thomas G. , Pástor, Pau , Albani, Diego , Clarimón, Jordi , Jaunmuktane, Zane , Frontzek, Karl , Warner, Thomas T. , Ferrucci, Luigi , Topol, Eric J. , Torkamani, Ali , DeCasien, Alex R. , Chiò, Adriano , Singer, Wolfgang , Cheshire, William P. , Wszołek, Zbigniew K. , Traynor, Bryan J. , Gibbs, J. Raphael
Brain | February 12, 2026 | Volume: No volume available | Issue: No issue available | Pages: No page available
Abstract The human X chromosome accounts for ∼5% of the genome. Despite its size, the role of X-chromosomal variants in human diseases is not well understood, mainly due to its distinct inheritance pattern and the frequent omission of sex chromosomes from genome-wide association studies. This study used whole-genome sequencing data from 888 multiple system atrophy (MSA) cases and 7128 controls to perform an X-chromosome-wide common variant association study. Our analyses revealed two sex-differential risk loci: one located at Xq28, associated with increased risk for MSA in females [index variant: rs4898389, odds ratio (OR) = 1.69, 95% confidence interval (CI) = 1.40–2.03, P-value = 2.43 × 10⁻⁸], and another at Xp22.2 within the TBL1X gene, identified in males (index variant: rs6638956, OR = 1.48, 95%CI = 1.26–1.73, P-value = 9.92 × 10⁻⁷). In the Xq28 locus, colocalization analyses pointed to FAM3A and PLXNA3 as genes of interest. These findings emphasize the vital role of sex-differential genetic factors in the pathogenesis of MSA.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis
Johnson, Janel O., Chia, Ruth , Miller, Danny E. , Kumaran, Ravindran, Abramzon, Yevgeniya, Alahmady, Nada F. , Topp, Simon , Gibbs, J. Raphael , Cookson, Mark , Sabir, Marya S. , Dalgard, Clifton L. , Troakes, Claire , Jones, Ashley R., Shatunov, Aleksey , Iacoangeli, Alfredo , Khleifat, Ahmad Al , Ticozzi, Nicola , Gellera, Cinzia , Blair, Ian P. , Dobson‐Stone, Carol , Bonkowski, Emily , Palvadeau, Robin , Tienari, Pentti J. , Morrison, Karen , Shaw, Pamela J. , Brown, Robert H., Calvo, Andrea, Al-Saif, Hind, Leigh, Fawn, Chang, Irene J. , Perlman, Seth J. , Scott, Anna I. , Başak, A. 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JAMA Neurology | August 30, 2021 | Volume: 78 | Issue: 10 | Pages: 1236