Effect of the Complex Allele p.[Ile148Thr;Ile1023_Val1024del] in Cystic Fibrosis and Tracing of a Founder Effect in Mexican Families

Autor: Namibia Guadalupe Mendiola-Vidal, Cecilia Contreras-Cubas, Francisco Barajas-Olmos, José Rafael Villafan-Bernal, Ana Lucia Yañez-Felix, Humberto García-Ortiz, Federico Centeno-Cruz, Elvia Mendoza-Caamal, Carmen Alaez-Verson, Juan Luis Jiménez-Ruíz, Tulia Monge-Cázares, Esther Lieberman, Vicente Baca, José Luis Lezana, Angélica Martínez-Hernández, Lorena Orozco

Publikováno v: Life, Vol 14, Iss 11, p 1445 (2024)

Cystic fibrosis (CF) is a rare autosomal recessive disease most commonly affecting the Caucasian population. CF diagnosis can be a challenge due to the large spectrum of pathogenic variants in the CFTR gene and the effects of complex alleles. Next-ge

Externí odkaz: https://doaj.org/article/781e1e7ecace456495f72d1528c97948

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Autor: Julia K. Goodrich, Moriel Singer-Berk, Rachel Son, Abigail Sveden, Jordan Wood, Eleina England, Joanne B. Cole, Ben Weisburd, Nick Watts, Lizz Caulkins, Peter Dornbos, Ryan Koesterer, Zachary Zappala, Haichen Zhang, Kristin A. Maloney, Andy Dahl, Carlos A. Aguilar-Salinas, Gil Atzmon, Francisco Barajas-Olmos, Nir Barzilai, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Federico Centeno-Cruz, John C. Chambers, Nathalie Chami, Edmund Chan, Juliana Chan, Ching-Yu Cheng, Yoon Shin Cho, Cecilia Contreras-Cubas, Emilio Córdova, Adolfo Correa, Ralph A. DeFronzo, Ravindranath Duggirala, Josée Dupuis, Ma Eugenia Garay-Sevilla, Humberto García-Ortiz, Christian Gieger, Benjamin Glaser, Clicerio González-Villalpando, Ma Elena Gonzalez, Niels Grarup, Leif Groop, Myron Gross, Christopher Haiman, Sohee Han, Craig L. Hanis, Torben Hansen, Nancy L. Heard-Costa, Brian E. Henderson, Juan Manuel Malacara Hernandez, Mi Yeong Hwang, Sergio Islas-Andrade, Marit E. Jørgensen, Hyun Min Kang, Bong-Jo Kim, Young Jin Kim, Heikki A. Koistinen, Jaspal Singh Kooner, Johanna Kuusisto, Soo-Heon Kwak, Markku Laakso, Leslie Lange, Jong-Young Lee, Juyoung Lee, Donna M. Lehman, Allan Linneberg, Jianjun Liu, Ruth J. F. Loos, Valeriya Lyssenko, Ronald C. W. Ma, Angélica Martínez-Hernández, James B. Meigs, Thomas Meitinger, Elvia Mendoza-Caamal, Karen L. Mohlke, Andrew D. Morris, Alanna C. Morrison, Maggie C. Y. Ng, Peter M. Nilsson, Christopher J. O’Donnell, Lorena Orozco, Colin N. A. Palmer, Kyong Soo Park, Wendy S. Post, Oluf Pedersen, Michael Preuss, Bruce M. Psaty, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Jerome I. Rotter, Danish Saleheen, Claudia Schurmann, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Timothy D. Spector, Konstantin Strauch, Tim M. Strom, E. Shyong Tai, Claudia H. T. Tam, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Russell P. Tracy, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Rob M. van Dam, Ramachandran S. Vasan, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, AMP-T2D-GENES Consortia, Noël P. Burtt, Noah Zaitlen, Mark I. McCarthy, Michael Boehnke, Toni I. Pollin, Jason Flannick, Josep M. Mercader, Anne O’Donnell-Luria, Samantha Baxter, Jose C. Florez, Daniel G. MacArthur, Miriam S. Udler

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)

Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and asses

Externí odkaz: https://doaj.org/article/20bcc638047441c3919ace2b384c0600

Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum

Autor: Humberto García-Ortiz, Lorena Orozco, Carlos Zerrweck, Carlos A. Aguilar-Salinas, Cecilia Contreras-Cubas, Elaheh Mirzaeicheshmeh, Elvia Mendoza-Caamal, Francisco Barajas-Olmos, Sergio Islas-Andrade, Donaji V. Gómez-Velasco, Isabel Cicerón-Arellano, Adriana Reséndiz-Rodríguez, Ian Ilizaliturri-Flores, Angélica Martínez-Hernández

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseases

Background We investigated pathogenic DYRK1B variants causative of abdominal obesity-metabolic syndrome 3 (AOMS3) in a group of patients originally diagnosed with type 2 diabetes. All DYRK1B exons were analyzed in a sample of 509 unrelated adults wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::204f9d15788aba7b76e56a2130c52414
https://doaj.org/article/98d010576c734f148270342f40c20b4e

Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes

Autor: George Hindy, Peter Dornbos, Mark D. Chaffin, Dajiang J. Liu, Minxian Wang, Margaret Sunitha Selvaraj, David Zhang, Joseph Park, Carlos A. Aguilar-Salinas, Lucinda Antonacci-Fulton, Diego Ardissino, Donna K. Arnett, Stella Aslibekyan, Gil Atzmon, Christie M. Ballantyne, Francisco Barajas-Olmos, Nir Barzilai, Lewis C. Becker, Lawrence F. Bielak, Joshua C. Bis, John Blangero, Eric Boerwinkle, Lori L. Bonnycastle, Erwin Bottinger, Donald W. Bowden, Matthew J. Bown, Jennifer A. Brody, Jai G. Broome, Noël P. Burtt, Brian E. Cade, Federico Centeno-Cruz, Edmund Chan, Yi-Cheng Chang, Yii-Der I. Chen, Ching-Yu Cheng, Won Jung Choi, Rajiv Chowdhury, Cecilia Contreras-Cubas, Emilio J. Córdova, Adolfo Correa, L. Adrienne Cupples, Joanne E. Curran, John Danesh, Paul S. de Vries, Ralph A. DeFronzo, Harsha Doddapaneni, Ravindranath Duggirala, Susan K. Dutcher, Patrick T. Ellinor, Leslie S. Emery, Jose C. Florez, Myriam Fornage, Barry I. Freedman, Valentin Fuster, Ma. Eugenia Garay-Sevilla, Humberto García-Ortiz, Soren Germer, Richard A. Gibbs, Christian Gieger, Benjamin Glaser, Clicerio Gonzalez, Maria Elena Gonzalez-Villalpando, Mariaelisa Graff, Sarah E. Graham, Niels Grarup, Leif C. Groop, Xiuqing Guo, Namrata Gupta, Sohee Han, Craig L. Hanis, Torben Hansen, Jiang He, Nancy L. Heard-Costa, Yi-Jen Hung, Mi Yeong Hwang, Marguerite R. Irvin, Sergio Islas-Andrade, Gail P. Jarvik, Hyun Min Kang, Sharon L.R. Kardia, Tanika Kelly, Eimear E. Kenny, Alyna T. Khan, Bong-Jo Kim, Ryan W. Kim, Young Jin Kim, Heikki A. Koistinen, Charles Kooperberg, Johanna Kuusisto, Soo Heon Kwak, Markku Laakso, Leslie A. Lange, Jiwon Lee, Juyoung Lee, Seonwook Lee, Donna M. Lehman, Rozenn N. Lemaitre, Allan Linneberg, Jianjun Liu, Ruth J.F. Loos, Steven A. Lubitz, Valeriya Lyssenko, Ronald C.W. Ma, Lisa Warsinger Martin, Angélica Martínez-Hernández, Rasika A. Mathias, Stephen T. McGarvey, Ruth McPherson, James B. Meigs, Thomas Meitinger, Olle Melander, Elvia Mendoza-Caamal, Ginger A. Metcalf, Xuenan Mi, Karen L. Mohlke, May E. Montasser, Jee-Young Moon, Hortensia Moreno-Macías, Alanna C. Morrison, Donna M. Muzny, Sarah C. Nelson, Peter M. Nilsson, Jeffrey R. O’Connell, Marju Orho-Melander, Lorena Orozco, Colin N.A. Palmer, Nicholette D. Palmer, Cheol Joo Park, Kyong Soo Park, Oluf Pedersen, Juan M. Peralta, Patricia A. Peyser, Wendy S. Post, Michael Preuss, Bruce M. Psaty, Qibin Qi, D.C. Rao, Susan Redline, Alexander P. Reiner, Cristina Revilla-Monsalve, Stephen S. Rich, Nilesh Samani, Heribert Schunkert, Claudia Schurmann, Daekwan Seo, Jeong-Sun Seo, Xueling Sim, Rob Sladek, Kerrin S. Small, Wing Yee So, Adrienne M. Stilp, E. Shyong Tai, Claudia H.T. Tam, Kent D. Taylor, Yik Ying Teo, Farook Thameem, Brian Tomlinson, Michael Y. Tsai, Tiinamaija Tuomi, Jaakko Tuomilehto, Teresa Tusié-Luna, Miriam S. Udler, Rob M. van Dam, Ramachandran S. Vasan, Karine A. Viaud Martinez, Fei Fei Wang, Xuzhi Wang, Hugh Watkins, Daniel E. Weeks, James G. Wilson, Daniel R. Witte, Tien-Yin Wong, Lisa R. Yanek, Sekar Kathiresan, Daniel J. Rader, Jerome I. Rotter, Michael Boehnke, Mark I. McCarthy, Cristen J. Willer, Pradeep Natarajan, Jason A. Flannick, Amit V. Khera, Gina M. Peloso

Publikováno v: Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y C, Chen, Y D I, Cheng, C Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, Grarup, N, Hansen, T, Linneberg, A, Loos, R J F, Pedersen, O, Witte, D R, AMP-T2D-GENES, Myocardial Infarction Genetics Consortium, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & NHLBI TOPMed Lipids Working Group 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021
Am J Hum Genet
Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y C, Chen, Y D I, Cheng, C Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, DeFronzo, R A, Grarup, N, Hansen, T, Pedersen, O, Wang, F F, Witte, D R, AMP-T2D-GENES, Myocardial Infarction Genetics Consortium, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium & NHLBI TOPMed Lipids Working Group 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021
Hindy, G, Dornbos, P, Chaffin, M D, Liu, D J, Wang, M, Selvaraj, M S, Zhang, D, Park, J, Aguilar-Salinas, C A, Antonacci-Fulton, L, Ardissino, D, Arnett, D K, Aslibekyan, S, Atzmon, G, Ballantyne, C M, Barajas-Olmos, F, Barzilai, N, Becker, L C, Bielak, L F, Bis, J C, Blangero, J, Boerwinkle, E, Bonnycastle, L L, Bottinger, E, Bowden, D W, Bown, M J, Brody, J A, Broome, J G, Burtt, N P, Cade, B E, Centeno-Cruz, F, Chan, E, Chang, Y-C, Chen, Y-D I, Cheng, C-Y, Choi, W J, Chowdhury, R, Contreras-Cubas, C, Córdova, E J, Correa, A, Cupples, L A, Curran, J E, Danesh, J, de Vries, P S, DeFronzo, R A, Doddapaneni, H, Duggirala, R, Dutcher, S K, Ellinor, P T, Grarup, N, Hansen, T, Pedersen, O, Linneberg, A, Witte, D R & AMP-T2D-GENES, Myocardial Infarction Genetics Consortium 2022, ' Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes ', American Journal of Human Genetics, vol. 109, no. 1, pp. 81-96 . https://doi.org/10.1016/j.ajhg.2021.11.021

Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency < 1%) predicted dama

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d53d518c5a9781ccf6a21517fa2887b9
https://hdl.handle.net/20.500.12105/15626

The genomic landscape of Mexican Indigenous populations brings insights into the peopling of the Americas

Autor: Angélica Martínez-Hernández, Guadalupe Salas-Martínez, Eva Gabriela Salas-Bautista, Elaheh Mirzaeicheshmeh, Francisco Loeza-Becerra, Aleksandar Kostic, Augusto Rojas-Martinez, Carlos Galaviz-Hernández, Blanca Patricia Lazalde-Ramos, Austin W. Reynolds, Paulina Baca, José Sánchez-Corona, Humberto García-Ortiz, Antonio Blanchet, Héctor Rangel-Villalobos, Jazmín Ramos-Madrigal, José Concepción Jiménez-López, Elvia Mendoza-Caamal, Silvia Esperanza Flores-Martínez, Rafael Velázquez-Cruz, Juan Luis Jiménez-Ruíz, Marlen Flores-Huacuja, Guadalupe León-Reyes, Federico Centeno-Cruz, María Del Carmen Abrahantes-Pérez, Mirna Edith Morales-Marín, Lorena Orozco, Rocio Ortiz-Lopez, Emilio J. Cordova, Miguel Ángel Cid-Soto, Raúl Mojica-Espinosa, Yolanda Saldaña-Alvarez, Deborah A. Bolnick, Francisco Barajas-Olmos, Martha Sosa-Macías, Meradeth Snow, Cecilia Contreras-Cubas, Alejandra Guadalupe García-Zapién, Isabel Cicerón-Arellano, Federico Sánchez-Quinto

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
García-Ortiz, H, Barajas-Olmos, F, Contreras-Cubas, C, Cid-Soto, M Á, Córdova, E J, Centeno-Cruz, F, Mendoza-Caamal, E, Cicerón-Arellano, I, Flores-Huacuja, M, Baca, P, Bolnick, D A, Snow, M, Flores-Martínez, S E, Ortiz-Lopez, R, Reynolds, A W, Blanchet, A, Morales-Marín, M, Velázquez-Cruz, R, Kostic, A D, Galaviz-Hernández, C, García-Zapién, A G, Jiménez-López, J C, León-Reyes, G, Salas-Bautista, E G, Lazalde-Ramos, B P, Jiménez-Ruíz, J L, Salas-Martínez, G, Ramos-Madrigal, J, Mirzaeicheshmeh, E, Saldaña-Alvarez, Y, del Carmen Abrahantes-Pérez, M, Loeza-Becerra, F, Mojica-Espinosa, R, Sánchez-Quinto, F, Rangel-Villalobos, H, Sosa-Macías, M, Sánchez-Corona, J, Rojas-Martinez, A, Martínez-Hernández, A & Orozco, L 2021, ' The genomic landscape of Mexican Indigenous populations brings insights into the peopling of the Americas ', Nature Communications, vol. 12, 5942 . https://doi.org/10.1038/s41467-021-26188-w
Nature Communications

The genetic makeup of Indigenous populations inhabiting Mexico has been strongly influenced by geography and demographic history. Here, we perform a genome-wide analysis of 716 newly genotyped individuals from 60 of the 68 recognized ethnic groups in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7c2adc40a7213887db87fb982e3a6b
https://doi.org/10.1038/s41467-021-26188-w