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1. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

Author

Ramdas, Shweta, Judd, Jonathan, Graham, Sarah E., Kanoni, Stavroula, Wang, Yuxuan, Surakka, Ida, Wenz, Brandon, Clarke, Shoa L., Chesi, Alessandra, Wells, Andrew, Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Zajac, Greg J.M., Wu, Kuan-Han H., Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T., Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Havulinna, Aki S., Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A., Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J., Narita, Akira, Takayama, Jun, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Rasheed, Asif, Hindy, George, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A., Yao, Jie, Manichaikul, Ani, Lee, Wen-Jane, Hsiung, Chao Agnes, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Schönherr, Sebastian, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Ruotsalainen, Sanni E., Daw, E. Warwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Le, Phuong, Feitosa, Mary F., Wojczynski, Mary K., Hemerich, Daiane, Preuss, Michael, Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Noah, Tsao L., Verma, Anurag, Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L., Marten, Jonathan, Emmel, Carina, Schmidt, Börge, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S., Sankareswaran, Alagu, Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R.H.J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Banas, Bernhard, Morgan, Anna, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R., Doumatey, Ayo P., Adeyemo, Adebowale A., Lee, Jong Young, Petersen, Eva R.B., Nielsen, Aneta A., Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, He, Karen Y., Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H.H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W.J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Ida Chen, Yii-Der, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Zimmermann, Martina E., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Peyser, Patricia A., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Böger, Carsten A., Jung, Bettina, Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, den Hollander, Anneke I., Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D.C., Arnett, Donna K., Walker, Mark, Scott, Laura J., Koistinen, Heikki A., Chandak, Giriraj R., Mercader, Josep M., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, E. Shyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N.A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Jin, Zi-Bing, Lu, Fan, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, t Hart, Leen M., Elders, Petra J.M., Rader, Daniel J., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J.F., Province, Michael A., Parra, Esteban J., Cruz, Miguel, Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Rotimi, Charles N., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F.A., Kiemeney, Lambertus, de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O., Willems van Dijk, Ko, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Huey-Herng Sheu, Wayne, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K.E., Boomsma, Dorret I., de Geus, Eco J.C., Cupples, L. Adrienne, van Meurs, Joyce B.J., Ikram, Arfan, Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Tuomilehto, Jaakko, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., Hazelhurst, Scott, Ramsay, Michèle, North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Baras, Aris, Justice, Anne E., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A., Trembath, Richard C., Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, Y. Eugene, Ho, Yuk-Lam, Lynch, Julie A., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O'Donnell, Christopher J., Gaziano, John M., Wilson, Peter, Mohlke, Karen L., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Boehnke, Michael, Struan Grant, Natarajan, Pradeep, Sun, Yan V., Morris, Andrew P., Deloukas, Panos, Peloso, Gina, Assimes, Themistocles L., Willer, Cristen J., Zhu, Xiang, and Brown, Christopher D.

Published
2022
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2. Single-Nucleotide Variants in PADI2 and PADI4 and Ancestry Informative Markers in Interstitial Lung Disease and Rheumatoid Arthritis among a Mexican Mestizo Population

Author

Nava-Quiroz, Karol J., primary, Rojas-Serrano, Jorge, additional, Pérez-Rubio, Gloria, additional, Buendia-Roldan, Ivette, additional, Mejía, Mayra, additional, Fernández-López, Juan Carlos, additional, Ramos-Martínez, Espiridión, additional, López-Flores, Luis A., additional, Del Ángel-Pablo, Alma D., additional, and Falfán-Valencia, Ramcés, additional

Published
2023
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3. The genetics of Mexico recapitulates Native American substructure and affects biomedical traits

Author

Moreno-Estrada, Andrés, Gignoux, Christopher R, Fernández-López, Juan Carlos, Zakharia, Fouad, Sikora, Martin, Contreras, Alejandra V, Acuña-Alonzo, Victor, Sandoval, Karla, Eng, Celeste, Romero-Hidalgo, Sandra, Ortiz-Tello, Patricia, Robles, Victoria, Kenny, Eimear E, Nuño-Arana, Ismael, Barquera-Lozano, Rodrigo, Macín-Pérez, Gastón, Granados-Arriola, Julio, Huntsman, Scott, Galanter, Joshua M, Via, Marc, Ford, Jean G, Chapela, Rocío, Rodriguez-Cintron, William, Rodríguez-Santana, Jose R, Romieu, Isabelle, Sienra-Monge, Juan José, del Rio Navarro, Blanca, London, Stephanie J, Ruiz-Linares, Andrés, Garcia-Herrera, Rodrigo, Estrada, Karol, Hidalgo-Miranda, Alfredo, Jimenez-Sanchez, Gerardo, Carnevale, Alessandra, Soberón, Xavier, Canizales-Quinteros, Samuel, Rangel-Villalobos, Héctor, Silva-Zolezzi, Irma, Burchard, Esteban Gonzalez, and Bustamante, Carlos D

Subjects
Biological Sciences, Anthropology, Genetics, Human Society, Clinical Research, Human Genome, Black People, Genetic Variation, Genome, Human, Humans, Indians, North American, Mexican Americans, Mexico, Population, White People, General Science & Technology
Abstract

Mexico harbors great cultural and ethnic diversity, yet fine-scale patterns of human genome-wide variation from this region remain largely uncharacterized. We studied genomic variation within Mexico from over 1000 individuals representing 20 indigenous and 11 mestizo populations. We found striking genetic stratification among indigenous populations within Mexico at varying degrees of geographic isolation. Some groups were as differentiated as Europeans are from East Asians. Pre-Columbian genetic substructure is recapitulated in the indigenous ancestry of admixed mestizo individuals across the country. Furthermore, two independently phenotyped cohorts of Mexicans and Mexican Americans showed a significant association between subcontinental ancestry and lung function. Thus, accounting for fine-scale ancestry patterns is critical for medical and population genetic studies within Mexico, in Mexican-descent populations, and likely in many other populations worldwide.

Published
2014

4. Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico

Author

Williams, Amy L, Jacobs, Suzanne BR, Moreno-Macías, Hortensia, Huerta-Chagoya, Alicia, Churchhouse, Claire, Márquez-Luna, Carla, García-Ortíz, Humberto, José Gómez-Vázquez, María, Burtt, Noël P, Aguilar-Salinas, Carlos A, González-Villalpando, Clicerio, Florez, Jose C, Orozco, Lorena, Haiman, Christopher A, Tusié-Luna, Teresa, Altshuler, David, Ripke, Stephan, Manning, Alisa K, Neale, Benjamin, Reich, David, Stram, Daniel O, Fernández-López, Juan Carlos, Romero-Hidalgo, Sandra, Patterson, Nick, Aguilar-Delfín, Irma, Martínez-Hernández, Angélica, Centeno-Cruz, Federico, Mendoza-Caamal, Elvia, Revilla-Monsalve, Cristina, Islas-Andrade, Sergio, Córdova, Emilio, Rodríguez-Arellano, Eunice, Soberón, Xavier, González-Villalpando, María Elena, Henderson, Brian E, Monroe, Kristine, Wilkens, Lynne, Kolonel, Laurence N, Le Marchand, Loic, Riba, Laura, Ordóñez-Sánchez, María Luisa, Rodríguez-Guillén, Rosario, Cruz-Bautista, Ivette, Rodríguez-Torres, Maribel, Muñoz-Hernández, Linda Liliana, Sáenz, Tamara, Gómez, Donají, Alvirde, Ulices, Onofrio, Robert C, Brodeur, Wendy M, Gage, Diane, Murphy, Jacquelyn, Franklin, Jennifer, Mahan, Scott, Ardlie, Kristin, Crenshaw, Andrew T, Winckler, Wendy, Prüfer, Kay, Shunkov, Michael V, Sawyer, Susanna, Stenzel, Udo, Kelso, Janet, Lek, Monkol, Sankararaman, Sriram, MacArthur, Daniel G, Derevianko, Anatoli P, Pääbo, Svante, Gopal, Shuba, Grammatikos, James A, Smith, Ian C, Bullock, Kevin H, Deik, Amy A, Souza, Amanda L, Pierce, Kerry A, Clish, Clary B, Fennell, Timothy, and Farjoun, Yossi

Subjects
Nutrition, Diabetes, Prevention, Genetics, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Alleles, Animals, Asian People, Black People, Cohort Studies, Diabetes Mellitus, Type 2, Endoplasmic Reticulum, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Haplotypes, HeLa Cells, Humans, Indians, North American, Lipid Metabolism, Liver, Male, Mexico, Monocarboxylic Acid Transporters, Neanderthals, Polymorphism, Single Nucleotide, RNA, Messenger, Triglycerides, White People, SIGMA Type 2 Diabetes Consortium, Hela Cells, General Science & Technology
Abstract

Performing genetic studies in multiple human populations can identify disease risk alleles that are common in one population but rare in others, with the potential to illuminate pathophysiology, health disparities, and the population genetic origins of disease alleles. Here we analysed 9.2 million single nucleotide polymorphisms (SNPs) in each of 8,214 Mexicans and other Latin Americans: 3,848 with type 2 diabetes and 4,366 non-diabetic controls. In addition to replicating previous findings, we identified a novel locus associated with type 2 diabetes at genome-wide significance spanning the solute carriers SLC16A11 and SLC16A13 (P = 3.9 × 10(-13); odds ratio (OR) = 1.29). The association was stronger in younger, leaner people with type 2 diabetes, and replicated in independent samples (P = 1.1 × 10(-4); OR = 1.20). The risk haplotype carries four amino acid substitutions, all in SLC16A11; it is present at ~50% frequency in Native American samples and ~10% in east Asian, but is rare in European and African samples. Analysis of an archaic genome sequence indicated that the risk haplotype introgressed into modern humans via admixture with Neanderthals. The SLC16A11 messenger RNA is expressed in liver, and V5-tagged SLC16A11 protein localizes to the endoplasmic reticulum. Expression of SLC16A11 in heterologous cells alters lipid metabolism, most notably causing an increase in intracellular triacylglycerol levels. Despite type 2 diabetes having been well studied by genome-wide association studies in other populations, analysis in Mexican and Latin American individuals identified SLC16A11 as a novel candidate gene for type 2 diabetes with a possible role in triacylglycerol metabolism.

Published
2014

5. Molecular Factors in PAD2 (PADI2) and PAD4 (PADI4) Are Associated with Interstitial Lung Disease Susceptibility in Rheumatoid Arthritis Patients

Author

Nava-Quiroz, Karol J., primary, Rojas-Serrano, Jorge, additional, Pérez-Rubio, Gloria, additional, Buendia-Roldan, Ivette, additional, Mejía, Mayra, additional, Fernández-López, Juan Carlos, additional, Rodríguez-Henríquez, Pedro, additional, Ayala-Alcantar, Noé, additional, Ramos-Martínez, Espiridión, additional, López-Flores, Luis Alberto, additional, Del Ángel-Pablo, Alma D., additional, and Falfán-Valencia, Ramcés, additional

Published
2023
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6. A panel of 32 AIMs suitable for population stratification correction and global ancestry estimation in Mexican mestizos

Author

Huerta-Chagoya, Alicia, Moreno-Macías, Hortensia, Fernández-López, Juan Carlos, Ordóñez-Sánchez, María Luisa, Rodríguez-Guillén, Rosario, Contreras, Alejandra, Hidalgo-Miranda, Alfredo, Alfaro-Ruíz, Luis Alberto, Salazar-Fernandez, Edgar Pavel, Moreno-Estrada, Andrés, Aguilar-Salinas, Carlos Alberto, and Tusié-Luna, Teresa

Published
2019
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7. Single-Nucleotide Variants in PADI2 and PADI4 and Ancestry Informative Markers in Interstitial Lung Disease and Rheumatoid Arthritis among a Mexican Mestizo Population.

Author

Nava-Quiroz, Karol J., Rojas-Serrano, Jorge, Pérez-Rubio, Gloria, Buendia-Roldan, Ivette, Mejía, Mayra, Fernández-López, Juan Carlos, Ramos-Martínez, Espiridión, López-Flores, Luis A., Del Ángel-Pablo, Alma D., and Falfán-Valencia, Ramcés

Subjects
INTERSTITIAL lung diseases, RHEUMATOID arthritis, MEXICANS, LUNGS, SINGLE nucleotide polymorphisms, ARGININE deiminase
Abstract

Rheumatoid arthritis (RA) is an autoimmune disease mainly characterized by joint inflammation. It presents extra-articular manifestations, with the lungs being one of the affected areas. Among these, damage to the pulmonary interstitium (Interstitial Lung Disease—ILD) has been linked to proteins involved in the inflammatory process and related to extracellular matrix deposition and lung fibrosis establishment. Peptidyl arginine deiminase enzymes (PAD), which carry out protein citrullination, play a role in this context. A genetic association analysis was conducted on genes encoding two PAD isoforms: PAD2 and PAD4. This analysis also included ancestry informative markers and protein level determination in samples from patients with RA, RA-associated ILD, and clinically healthy controls. Significant single nucleotide variants (SNV) and one haplotype were identified as susceptibility factors for RA-ILD development. Elevated levels of PAD4 were found in RA-ILD cases, while PADI2 showed an association with RA susceptibility. This work presents data obtained from previously published research. Population variability has been noticed in genetic association studies. We present data for 14 SNVs that show geographical and genetic variation across the Mexican population, which provides highly informative content and greater intrapopulation genetic diversity. Further investigations in the field should be considered in addition to AIMs. The data presented in this study were analyzed in association with SNV genotypes in PADI2 and PADI4 to assess susceptibility to ILD in RA, as well as with changes in PAD2 and PAD4 protein levels according to carrier genotype, in addition to the use of covariates such as ancestry markers. Dataset: DOI 10.3390/cells12182235 (published manuscript.). The datasets generated for this study can be found in ClinVar accessions SCV001422427–SCV001422434. Dataset License: Attribution 4.0 International (CC BY 4.0) [ABSTRACT FROM AUTHOR]

Published
2024
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8. SNPs Sets in Codifying Genes for Xenobiotics-Processing Enzymes Are Associated with COPD Secondary to Biomass-Burning Smoke

Author

Ambrocio-Ortiz, Enrique, primary, Pérez-Rubio, Gloria, additional, Ramírez-Venegas, Alejandra, additional, Hernández-Zenteno, Rafael de Jesús, additional, Fernández-López, Juan Carlos, additional, Ramírez-Díaz, María Elena, additional, Cruz-Vicente, Filiberto, additional, Martínez-Gómez, María de Lourdes, additional, Sansores, Raúl, additional, Pérez-Ramos, Julia, additional, and Falfán-Valencia, Ramcés, additional

Published
2023
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9. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing

Author

Lohr, Jens G., Stojanov, Petar, Lawrence, Michael S., Auclair, Daniel, Chapuy, Bjoern, Sougnez, Carrie, Cruz-Gordillo, Peter, Knoechel, Birgit, Asmann, Yan W., Slager, Susan L., Novak, Anne J., Dogan, Ahmet, Ansell, Stephen M., Link, Brian K., Zou, Lihua, Gould, Joshua, Saksena, Gordon, Stransky, Nicolas, Rangel-Escareño, Claudia, Fernandez-Lopez, Juan Carlos, Hidalgo-Miranda, Alfredo, Melendez-Zajgla, Jorge, Hernández-Lemus, Enrique, Schwarz-Cruz y Celis, Angela, Imaz-Rosshandler, Ivan, Ojesina, Akinyemi I., Jung, Joonil, Pedamallu, Chandra S., Lander, Eric S., Habermann, Thomas M., Cerhan, James R., Shipp, Margaret A., Getz, Gad, and Golub, Todd R.

Published
2012

10. Analysis of Genomic Diversity in Mexican Mestizo Populations to Develop Genomic Medicine in Mexico

Author

Silva-Zolezzi, Irma, Hidalgo-Miranda, Alfredo, Estrada-Gil, Jesus, Fernandez-Lopez, Juan Carlos, Uribe-Figueroa, Laura, Contreras, Alejandra, Balam-Ortiz, Eros, del Bosque-Plata, Laura, Velazquez-Fernandez, David, Lara, Cesar, Goya, Rodrigo, Hernandez-Lemus, Enrique, Davila, Carlos, Barrientos, Eduardo, March, Santiago, Jimenez-Sanchez, Gerardo, and Lander, Eric S.

Published
2009
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11. HUMAN GENETICS: The genetics of Mexico recapitulates Native American substructure and affects biomedical traits

Author

Moreno-Estrada, Andrés, Gignoux, Christopher R., Fernández-López, Juan Carlos, Zakharia, Fouad, Sikora, Martin, Contreras, Alejandra V., Acuña-Alonzo, Victor, Sandoval, Karla, Eng, Celeste, Romero-Hidalgo, Sandra, Ortiz-Tello, Patricia, Robles, Victoria, Kenny, Eimear E., Nuño-Arana, Ismael, Barquera-Lozano, Rodrigo, Macín-Pérez, Gastón, Granados-Arriola, Julio, Huntsman, Scott, Galanter, Joshua M., Via, Marc, Ford, Jean G., Chapela, Rocío, Rodriguez-Cintron, William, Rodríguez-Santana, Jose R., Romieu, Isabelle, Sienra-Monge, Juan José, del Rio Navarro, Blanca, London, Stephanie J., Ruiz-Linares, Andrés, Garcia-Herrera, Rodrigo, Estrada, Karol, Hidalgo-Miranda, Alfredo, Jimenez-Sanchez, Gerardo, Carnevale, Alessandra, Soberón, Xavier, Canizales-Quinteros, Samuel, Rangel-Villalobos, Hector, Silva-Zolezzi, Irma, Burchard, Esteban Gonzalez, and Bustamante, Carlos D.

Published
2014
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12. Whole genome variation in 27 Mexican indigenous populations, demographic and biomedical insights

Author

Aguilar-Ordoñez, Israel, primary, Pérez-Villatoro, Fernando, additional, García-Ortiz, Humberto, additional, Barajas-Olmos, Francisco, additional, Ballesteros-Villascán, Judith, additional, González-Buenfil, Ram, additional, Fresno, Cristobal, additional, Garcíarrubio, Alejandro, additional, Fernández-López, Juan Carlos, additional, Tovar, Hugo, additional, Hernández-Lemus, Enrique, additional, Orozco, Lorena, additional, Soberón, Xavier, additional, and Morett, Enrique, additional

Published
2021
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14. Genotype-Environment Interaction Analysis of NQO1, CYP2E1, and NAT2 Polymorphisms and the Risk of Childhood Acute Lymphoblastic Leukemia: A Report From the Mexican Interinstitutional Group for the Identification of the Causes of Childhood Leukemia

Author

Medina-Sanson, Aurora, primary, Núñez-Enríquez, Juan Carlos, additional, Hurtado-Cordova, Eduardo, additional, Pérez-Saldivar, María Luisa, additional, Martínez-García, Anayeli, additional, Jiménez-Hernández, Elva, additional, Fernández-López, Juan Carlos, additional, Martín-Trejo, Jorge Alfonso, additional, Pérez-Lorenzana, Héctor, additional, Flores-Lujano, Janet, additional, Amador-Sánchez, Raquel, additional, Mora-Ríos, Felix Gustavo, additional, Peñaloza-González, José Gabriel, additional, Duarte-Rodríguez, David Aldebarán, additional, Torres-Nava, José Refugio, additional, Flores-Bautista, Juan Eduardo, additional, Espinosa-Elizondo, Rosa Martha, additional, Román-Zepeda, Pedro Francisco, additional, Flores-Villegas, Luz Victoria, additional, González-Ulivarri, Juana Esther, additional, Martínez-Silva, Sofía Irene, additional, Espinoza-Anrubio, Gilberto, additional, Almeida-Hernández, Carolina, additional, Ramírez-Colorado, Rosario, additional, Hernández-Mora, Luis, additional, García-López, Luis Ramiro, additional, Cruz-Ojeda, Gabriela Adriana, additional, Godoy-Esquivel, Arturo Emilio, additional, Contreras-Hernández, Iris, additional, Medina-Hernández, Abraham, additional, López-Caballero, María Guadalupe, additional, Hernández-Pineda, Norma Angélica, additional, Granados-Kraulles, Jorge, additional, Rodríguez-Vázquez, María Adriana, additional, Torres-Valle, Delfino, additional, Cortés-Reyes, Carlos, additional, Medrano-López, Francisco, additional, Pérez-Gómez, Jessica Arleet, additional, Martínez-Ríos, Annel, additional, Aguilar-De los Santos, Antonio, additional, Serafin-Díaz, Berenice, additional, Bekker-Méndez, Vilma Carolina, additional, Mata-Rocha, Minerva, additional, Morales-Castillo, Blanca Angélica, additional, Sepúlveda-Robles, Omar Alejandro, additional, Ramírez-Bello, Julián, additional, Rosas-Vargas, Haydeé, additional, Hidalgo-Miranda, Alfredo, additional, Mejía-Aranguré, Juan Manuel, additional, and Jiménez-Morales, Silvia, additional

Published
2020
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15. Demographic history and biologically relevant genetic variation of Native Mexicans inferred from whole-genome sequencing

Author

Romero-Hidalgo, Sandra, primary, Ochoa-Leyva, Adrián, additional, Garcíarrubio, Alejandro, additional, Acuña-Alonzo, Victor, additional, Antúnez-Argüelles, Erika, additional, Balcazar-Quintero, Martha, additional, Barquera-Lozano, Rodrigo, additional, Carnevale, Alessandra, additional, Cornejo-Granados, Fernanda, additional, Fernández-López, Juan Carlos, additional, García-Herrera, Rodrigo, additional, García-Ortíz, Humberto, additional, Granados-Silvestre, Ángeles, additional, Granados, Julio, additional, Guerrero-Romero, Fernando, additional, Hernández-Lemus, Enrique, additional, León-Mimila, Paola, additional, Macín-Pérez, Gastón, additional, Martínez-Hernández, Angélica, additional, Menjivar, Marta, additional, Morett, Enrique, additional, Orozco, Lorena, additional, Ortíz-López, Guadalupe, additional, Pérez-Villatoro, Fernando, additional, Rivera-Morales, Javier, additional, Riveros-McKay, Fernando, additional, Villalobos-Comparán, Marisela, additional, Villamil-Ramírez, Hugo, additional, Villarreal-Molina, Teresa, additional, Canizales-Quinteros, Samuel, additional, and Soberón, Xavier, additional

Published
2017
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16. Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico

Author

Contreras-Cubas, Cecilia, primary, Sánchez-Hernández, Beatríz E., additional, García-Ortiz, Humberto, additional, Martínez-Hernández, Angélica, additional, Barajas-Olmos, Francisco, additional, Cid, Miguel, additional, Mendoza-Caamal, Elvia C., additional, Centeno-Cruz, Federico, additional, Ortiz-Cruz, Gabriela, additional, Jiménez-López, José Concepción, additional, Córdova, Emilio J., additional, Salas-Bautista, Eva Gabriela, additional, Saldaña-Alvarez, Yolanda, additional, Fernández-López, Juan Carlos, additional, Mutchinick, Osvaldo M., additional, and Orozco, Lorena, additional

Published
2016
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18. Genetic Variants in IL6R and ADAM19 are Associated with COPD Severity in a Mexican Mestizo Population

Author

Pérez-Rubio, Gloria, primary, Silva-Zolezzi, Irma, additional, Fernández-López, Juan Carlos, additional, Camarena, Ángel, additional, Velázquez-Uncal, Mónica, additional, Morales-Mandujano, Fabiola, additional, Hernández-Zenteno, Rafael De Jesús, additional, Flores-Trujillo, Fernando, additional, Sánchez-Romero, Candelaria, additional, Velázquez-Montero, Alejandra, additional, Espinosa de los Monteros, Carlos, additional, Sansores, Raúl H., additional, Ramírez-Venegas, Alejandra, additional, and Falfán-Valencia, Ramcés, additional

Published
2016
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19. Exploring the Distribution of Genetic Markers of Pharmacogenomics Relevance in Brazilian and Mexican Populations

Author

Bonifaz-Peña, Vania, primary, Contreras, Alejandra V., additional, Struchiner, Claudio Jose, additional, Roela, Rosimeire A., additional, Furuya-Mazzotti, Tatiane K., additional, Chammas, Roger, additional, Rangel-Escareño, Claudia, additional, Uribe-Figueroa, Laura, additional, Gómez-Vázquez, María José, additional, McLeod, Howard L., additional, Hidalgo-Miranda, Alfredo, additional, Parra, Esteban J., additional, Fernández-López, Juan Carlos, additional, and Suarez-Kurtz, Guilherme, additional

Published
2014
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20. Determinación de pares funcionales de proteínas basado en el método de perfiles filogenéticos utilizando conjuntos difusos

Author

Fernández López, Juan Carlos, Vallejo Clemente, Edgar E, Morett Sánchez, Juan Enrique, ITESM-Campus Estado de México, Quintana López, Maricela, and Ramos Quintana, Fernando

Subjects
7 INGENIERÍA Y TECNOLOGÍA, CIENCIAS FÍSICO MATEMÁTICAS Y CIENCIAS DE LA TIERRA::MATEMÁTICAS::CIENCIA DE LOS ORDENADORES::SISTEMAS DE CONTROL MÉDICO [Area]
Abstract

En los últimos años la obtención de genomas completamente secuenciados ha permitido el desarrollo de algoritmos computacionales que permiten estudiar los genes contenidos en éstos genomas, lo cual, a su vez posibilita una descripción de su organización y localización y por ende, la posibilidad de identificar la función que realizan las proteínas que son codificadas por estos. La última generación de métodos para la identificación de funciones de muchas proteínas no caracterizadas son los llamados métodos basados en el contexto genómico. En este grupo se destaca el método de perfiles filogenéticos (MPF), el cual describe el patrón de ausencia o presencia de una proteína particular a través de un conjunto de organismos con genomas completos. La principal ventaja de este método es que en un mismo análisis permite la participación, tanto de genomas de arqueas, procariotas y eucariotas. No obstante, como la mayoría de los métodos para la inferencia funcional, éste tiene algunas limitantes, por ejemplo, se restringe severamente el número de relaciones funcionales que pueden establecerse, debido a que solamente infiere enlaces funcionales de perfiles que son idénticos o muy similares, pero sin establecer el grado de relación que hay entre éstos y sus demás vecinos. Por otro lado, no logra relacionar genes que no están en la misma vía metabólica y cuyos perfiles filogenéticos pueden no tener una similitud suficiente, pero que coadyuvan a una función común. Este trabajo se propone incrementar el nivel de expresividad del método de perfiles filogenéticos utilizando el algoritmo de agrupamiento C-medias difuso conocido como Fuzzy C-means en idioma inglés o FCM. El uso del algoritmo C-medias difuso agrupa perfiles filogenéticos con diferentes grados de pertenencia para inferir relaciones funcionales entre proteínas de perfiles no idénticos, pero que posiblemente participan en una función común. El algoritmo, además, podría dar lugar a la inclusión de expresiones lingüísticas, referentes al parecido de perfiles filogenéticos o para describir el grado de relación funcional entre proteínas, tales como: muy alta, alta, media-alta, media, media-baja, baja y muy baja similitud del perfil filogenético en función al valor de pertenencia (membresía) dado. La validación de los agrupamientos difusos de perfiles filogenéticos se llevó a cabo usando los operones de la bacteria de Escherichia coli (E. coli). Los genes de estos operones fueron comparados con nuestro agrupamiento difuso para interrelacionar funciones. El desempeño aceptable de los resultados sugirió la posibilidad de implementar un sistema automático para inferir relaciones funcionales de perfiles filogenéticos de genes/proteínas hipotéticos o nuevos, mediante el entrenamiento de una red neuronal de base radial (RBR), la cual simuló de forma muy aceptable el agrupamiento de perfiles filogenéticos obtenido con FCM. Los resultados de este trabajo amplían la suposición de que los perfiles filogenéticos de las proteínas que funcionan juntas en una vía bioquímica o estructura compleja son similares y están dispuestos en un modelo correlacionado. Nosotros, por nuestra parte, mostramos que este modelo correlacionado conserva un patrón que puede ir haciéndose difuso o borrándose hacia el resto de los grupos y a su vez, seguir conservando algún grado en la relación funcional de los genes involucrados, lo cual brinda información adicional sobre posibles enlaces funcionales lejanos, pero existentes y por otro lado, extender el conocimiento sobre proteínas en general.

Published
2006

21. The Mutational Landscape of Diffuse Large B Cell Lymphoma

Author

Lohr, Jens, primary, Stojanov, Petar, additional, Lawrence, Michael S, additional, Auclair, Daniel, additional, Chapuy, Bjoern, additional, Carter, Scott, additional, Sougnez, Carrie, additional, Gould, Joshua, additional, Cruz-Gordillo, Peter, additional, Cerhan, James R, additional, Dogan, Ahmet, additional, Habermann, Thomas M., additional, Link, Brian K, additional, Rangel-Escareno, Claudia, additional, Hernadez-Lemus, Enrique, additional, Hidalgo-Miranda, Alfredo, additional, Meléndez-Zajgla, Jorge, additional, Fernández-López, Juan Carlos, additional, Imaz, Ivan, additional, Schwarz, Angela, additional, Shipp, Margaret A., additional, Getz, Gad, additional, and Golub, Todd R., additional

Published
2011
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22. Correction: Whole genome variation in 27 Mexican indigenous populations, demographic and biomedical insights.

Author

Aguilar-Ordoñez, Israel, Pérez-Villatoro, Fernando, García-Ortiz, Humberto, Barajas-Olmos, Francisco, Ballesteros-Villascán, Judith, Ram González-Buenfil, Fresno, Cristobal, Garcíarrubio, Alejandro, Fernández-López, Juan Carlos, Tovar, Hugo, Hernández-Lemus, Enrique, Orozco, Lorena, Soberón, Xavier, and Morett, Enrique

Subjects
INDIGENOUS peoples of Mexico, GENOMES
Abstract

Reference 1 Aguilar-Ordoñez I, Pérez-Villatoro F, García-Ortiz H, Barajas-Olmos F, Ballesteros-Villascán J, et al. (2021) Whole genome variation in 27 Mexican indigenous populations, demographic and biomedical insights. In the Data Availability statement, the point of contact for genome sequence data access requests is incomplete. [Extracted from the article]

Published
2022
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23. SNPs in NRXN1and CHRNA5are associated to smoking and regulation of GABAergic and glutamatergic pathways

Author

Pérez-Rubio, Gloria, Pérez-Rodríguez, Martha E, Fernández-López, Juan Carlos, Ramírez-Venegas, Alejandra, García-Colunga, Jesús, Ávila-Moreno, Federico, Camarena, Angel, Sansores, Raúl H, and Falfán-Valencia, Ramcés

Abstract

Aim:To identify genetic variants associated with greater tobacco consumption in a Mexican population. Patients & methods:Daily smokers were classified as light smokers (LS; n 742), heavy smokers (HS; n 601) and nonsmokers (NS; n 606). In the first stage, a genotyping microarray that included 347 SNPs in CHRNA2–CHRNA7/CHRNA10, CHRNB2–CHRNB4and NRXN1genes and 37 ancestry-informative markers was used to analyze 707 samples (187 HS, 328 LS and 192 NS). In the second stage, 14 SNPs from stage 1 were validated in the remaining samples (HS, LS and NS; n 414 in each group) using real-time PCR. To predict the role of the associated SNPs, an in silico analysis was performed. Results:Two SNPs in NRXN1and two in CHRNA5were associated with cigarette consumption, while rs10865246/C (NRXN1) was associated with high nicotine addiction. The in silico analysis revealed that rs1882296/T had a high level of homology with Hsa-miR-6740-5p, which encodes a putative miRNA that targets glutamate receptor subunits (GRIA2, GRID2) and GABA receptor subunits (GABRG1, GABRA4, GABRB2), while rs1882296/C had a high level of homology with Hsa-miR-6866-5p, which encodes a different miRNA that targets GRID2and GABRB2. Conclusion:In a Mexican Mestizo population, greater consumption of cigarettes was influenced by polymorphisms in the NRXN1and CHRNA5genes. We proposed new hypotheses regarding the putative roles of miRNAs that influence the GABAergic and glutamatergic pathways in smoking addiction.

Published
2016
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24. Reconstructing Native American Population History

Author

Reich, David Emil, Patterson, Nick, Campbell, Desmond, Tandon, Arti, Mazieres, Stéphane, Ray, Nicolas, Parra, Maria V., Rojas, Winston, Duque, Constanza, Mesa, Natalia, García, Luis F., Triana, Omar, Blair, Silvia, Maestre, Amanda, Dib, Juan C., Bravi, Claudio M., Bailliet, Graciela, Corach, Daniel, Hünemeier, Tábita, Bortolini, Maria-Cátira, Salzano, Francisco M., Petzl-Erler, María Luiza, Acuña-Alonzo, Victor, Aguilar-Salinas, Carlos, Canizales-Quinteros, Samuel, Tusié-Luna, Teresa, Riba, Laura, Rodríguez-Cruz, Maricela, Lopez-Alarcón, Mardia, Coral-Vazquez, Ramón, Canto-Cetina, Thelma, Silva-Zolezzi, Irma, Fernandez-Lopez, Juan Carlos, Contreras, Alejandra V., Jimenez-Sanchez, Gerardo, Gómez-Vázquez, María José, Molina, Julio, Carracedo, Ángel, Salas, Antonio, Gallo, Carla, Poletti, Giovanni, Witonsky, David B., Alkorta-Aranburu, Gorka, Sukernik, Rem I., Osipova, Ludmila, Fedorova, Sardana, Vasquez, René, Villena, Mercedes, Moreau, Claudia, Barrantes, Ramiro, Pauls, David L., Excoffier, Laurent, Bedoya, Gabriel, Rothhammer, Francisco, Dugoujon, Jean Michel, Larrouy, Georges, Klitz, William, Labuda, Damian, Kidd, Judith, Kidd, Kenneth, Rienzo, Anna Di, Freimer, Nelson B., Price, Alkes, and Ruiz-Linares, Andrés

Abstract

The peopling of the Americas has been the subject of extensive genetic, archaeological and linguistic research; however, central questions remain unresolved1–5. One contentious issue is whether the settlement occurred via a single6–8 or multiple streams of migration from Siberia9–15. The pattern of dispersals within the Americas is also poorly understood. To address these questions at higher resolution than was previously possible, we assembled data from 52 Native American and 17 Siberian groups genotyped at 364,470 single nucleotide polymorphisms. We show that Native Americans descend from at least three streams of Asian gene flow. Most descend entirely from a single ancestral population that we call “First American”. However, speakers of Eskimo-Aleut languages from the Arctic inherit almost half their ancestry from a second stream of Asian gene flow, and the Na-Dene-speaking Chipewyan from Canada inherit roughly one-tenth of their ancestry from a third stream. We show that the initial peopling followed a southward expansion facilitated by the coast, with sequential population splits and little gene flow after divergence, especially in South America. A major exception is in Chibchan-speakers on both sides of the Panama Isthmus, who have ancestry from both North and South America.

Published
2013
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25. Personas de edad avanzada y mercado de trabajo

Author

Javier Calvo Gallego, María Fernanda Fernández López Juan Carlos Alvarez Cortes, Javier Calvo Gallego, Javier Calvo Gallego, María Fernanda Fernández López Juan Carlos Alvarez Cortes, and Javier Calvo Gallego

Abstract

Los profundos cambios tecnológicos, demográficos y sociológicos han reactivado la atención por el estudio de los problemas específicos que el colectivo de personas de edad avanzada presenta en relación con el mercado de trabajo. Especialmente, el problema del envejecimiento demográfico constituye uno de los riesgos más importantes y sistémicos a los que se enfrenta no solo nuestro mercado de trabajo sino también nuestro Sistema de Protección Social. Ello ha provocado la articulación de todo tipo de instrumentos que permitan un envejecimiento activo en todos los ámbitos. El carácter multidisciplinar de esta cuestión ha supuesto que el trabajo que ahora se publica analice aspectos desde diferentes perspectivas, aunque siendo su principal enfoque el análisis jurídico e incluyendo estudios de experiencias en otros países referidos a este colectivo. Por ello, las aportaciones de este estudio se agrupan en diversos bloques temáticos, señaladamente: economía, política de empleo, relación laboral y protección social (incluyendo el impacto o evaluación de género de las políticas públicas).

26. Personas de edad avanzada y mercado de trabajo

Author

Javier Calvo Gallego, María Fernanda Fernández López Juan Carlos Alvarez Cortes, Javier Calvo Gallego, Javier Calvo Gallego, María Fernanda Fernández López Juan Carlos Alvarez Cortes, and Javier Calvo Gallego

Abstract

Los profundos cambios tecnológicos, demográficos y sociológicos han reactivado la atención por el estudio de los problemas específicos que el colectivo de personas de edad avanzada presenta en relación con el mercado de trabajo. Especialmente, el problema del envejecimiento demográfico constituye uno de los riesgos más importantes y sistémicos a los que se enfrenta no solo nuestro mercado de trabajo sino también nuestro Sistema de Protección Social. Ello ha provocado la articulación de todo tipo de instrumentos que permitan un envejecimiento activo en todos los ámbitos. El carácter multidisciplinar de esta cuestión ha supuesto que el trabajo que ahora se publica analice aspectos desde diferentes perspectivas, aunque siendo su principal enfoque el análisis jurídico e incluyendo estudios de experiencias en otros países referidos a este colectivo. Por ello, las aportaciones de este estudio se agrupan en diversos bloques temáticos, señaladamente: economía, política de empleo, relación laboral y protección social (incluyendo el impacto o evaluación de género de las políticas públicas).

27. Personas de edad avanzada y mercado de trabajo

Author

Javier Calvo Gallego, María Fernanda Fernández López Juan Carlos Alvarez Cortes, Javier Calvo Gallego, Javier Calvo Gallego, María Fernanda Fernández López Juan Carlos Alvarez Cortes, and Javier Calvo Gallego

Abstract

Los profundos cambios tecnológicos, demográficos y sociológicos han reactivado la atención por el estudio de los problemas específicos que el colectivo de personas de edad avanzada presenta en relación con el mercado de trabajo. Especialmente, el problema del envejecimiento demográfico constituye uno de los riesgos más importantes y sistémicos a los que se enfrenta no solo nuestro mercado de trabajo sino también nuestro Sistema de Protección Social. Ello ha provocado la articulación de todo tipo de instrumentos que permitan un envejecimiento activo en todos los ámbitos. El carácter multidisciplinar de esta cuestión ha supuesto que el trabajo que ahora se publica analice aspectos desde diferentes perspectivas, aunque siendo su principal enfoque el análisis jurídico e incluyendo estudios de experiencias en otros países referidos a este colectivo. Por ello, las aportaciones de este estudio se agrupan en diversos bloques temáticos, señaladamente: economía, política de empleo, relación laboral y protección social (incluyendo el impacto o evaluación de género de las políticas públicas).

28. Personas de edad avanzada y mercado de trabajo

Author

Javier Calvo Gallego, María Fernanda Fernández López Juan Carlos Alvarez Cortes, Javier Calvo Gallego, Javier Calvo Gallego, María Fernanda Fernández López Juan Carlos Alvarez Cortes, and Javier Calvo Gallego

Abstract

Los profundos cambios tecnológicos, demográficos y sociológicos han reactivado la atención por el estudio de los problemas específicos que el colectivo de personas de edad avanzada presenta en relación con el mercado de trabajo. Especialmente, el problema del envejecimiento demográfico constituye uno de los riesgos más importantes y sistémicos a los que se enfrenta no solo nuestro mercado de trabajo sino también nuestro Sistema de Protección Social. Ello ha provocado la articulación de todo tipo de instrumentos que permitan un envejecimiento activo en todos los ámbitos. El carácter multidisciplinar de esta cuestión ha supuesto que el trabajo que ahora se publica analice aspectos desde diferentes perspectivas, aunque siendo su principal enfoque el análisis jurídico e incluyendo estudios de experiencias en otros países referidos a este colectivo. Por ello, las aportaciones de este estudio se agrupan en diversos bloques temáticos, señaladamente: economía, política de empleo, relación laboral y protección social (incluyendo el impacto o evaluación de género de las políticas públicas).

29. CFH haplotypes and ARMS2, C2, C3, and CFB alleles show association with susceptibility to age-related macular degeneration in Mexicans.

Author

Contreras AV, Zenteno JC, Fernández-López JC, Rodríguez-Corona U, Falfán-Valencia R, Sebastian L, Morales F, Ochoa-Contreras D, Carnevale A, and Silva-Zolezzi I

Subjects
Aged, Alleles, Case-Control Studies, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Linkage Disequilibrium genetics, Male, Mexico, Open Reading Frames genetics, Complement C2 genetics, Complement C3 genetics, Complement Factor B genetics, Complement Factor H genetics, Haplotypes genetics, Macular Degeneration genetics, Proteins genetics
Abstract

Purpose: To evaluate the contribution of genetic variants of complement factor H (CFH), complement component 2 and 3 (C2 and C3), complement factor B (CFB), and age-related maculopathy susceptibility 2 (ARMS2) to age-related macular degeneration (AMD) risk in the Mexican Mestizo population., Methods: Analysis included 282 unrelated Mexican patients with advanced AMD, 205 healthy controls, and 280 population controls. Stereoscopic fundus images were graded on the Clinical Age-Related Maculopathy System (CARMS). We designed a resequencing strategy using primers with M13 adaptor for the 23 exons of the CFH gene in a subgroup of 96 individuals clinically evaluated: 48 AMD cases and 48 age- and sex-matched healthy controls. Single nucleotide polymorphisms (SNPs) in C3 (Arg80Gly and Pro292Leu), C2 (rs547154), CFB (Leu9His), and ARMS2 (Ala69Ser) were genotyped in all patients, healthy and population controls using TaqMan assay., Results: All evaluated individuals were Mexican Mestizos, and their genetic ancestry was validated using 224 ancestry informative markers and calculating F(st) values. The CFH resequencing revealed 19 SNPs and a common variant in the intron 2 splice acceptor site; three CFH haplotypes inferred from individual genotypes, showed significant differences between cases and controls. The risk alleles in C3 (rs1047286, odds ratio [OR]=2.48, 95% confidence interval [CI]=1.64-3.75, p=1.59E-05; rs2230199, OR=2.15, 95% CI=1.48-3.13, p=6.28E-05) and in ARMS2 (rs10490924, OR=3.09, 95% CI=2.48-3.86, p=5.42E-23) were strongly associated with risk of AMD. The protective effect of alleles in C2 (rs547154) and CFB (rs4151667) showed a trend but was not significantly associated after correction for multiple testing., Conclusions: Our results show that ARMS2 and C3 are major contributors to advanced AMD in Mexican patients, while the contributions of CFH, C2, and CFB are minor to those of other populations, reveling significant ethnic differences in minor allele frequencies. We provide evidence that two specific common haplotypes in the CFH gene predispose individuals to AMD, while another may confer reduced risk of disease in this admixed population.

Published
2014

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