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38 results on '"Mendoza-Caamal, Elvia"'

1. Prevalence of pathogenic or likely pathogenic germline variants in cancer predisposition genes among selected patients with lung adenocarcinoma: The GERMLUNG study

Author

Arrieta, Oscar, Caballé-Pérez, Enrique, Hernández-Pedro, Norma, Romero-Nuñez, Eunice, Lucio-Lozada, José, Castillo-Ruiz, Cesar, Acevedo-Castillo, Karla, María Álvarez-Gómez, Rosa, Molina-Garay, Carolina, Jiménez-Olivares, Marco, Carrillo-Sánchez, Karol, Cristina Mendoza-Caamal, Elvia, Cardona, Andrés F., Remon, Jordi, and Alaez-Verson, Carmen

Published
2024
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2. CFTR pathogenic variants spectrum in a cohort of Mexican patients with cystic fibrosis

Author

Martínez-Hernández, Angélica, Mendoza-Caamal, Elvia C., Mendiola-Vidal, Namibia G., Barajas-Olmos, Francisco, Villafan-Bernal, José Rafael, Jiménez-Ruiz, Juan Luis, Monge-Cazares, Tulia, García-Ortiz, Humberto, Cubas, Cecilia Contreras, Centeno-Cruz, Federico, Alaez-Verson, Carmen, Ortega-Torres, Soraya, Luna-Castañeda, Adriana del C., Baca, Vicente, Lezana, José Luis, and Orozco, Lorena

Published
2024
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3. Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Author

Goodrich, Julia K, Singer-Berk, Moriel, Son, Rachel, Sveden, Abigail, Wood, Jordan, England, Eleina, Cole, Joanne B, Weisburd, Ben, Watts, Nick, Caulkins, Lizz, Dornbos, Peter, Koesterer, Ryan, Zappala, Zachary, Zhang, Haichen, Maloney, Kristin A, Dahl, Andy, Aguilar-Salinas, Carlos A, Atzmon, Gil, Barajas-Olmos, Francisco, Barzilai, Nir, Blangero, John, Boerwinkle, Eric, Bonnycastle, Lori L, Bottinger, Erwin, Bowden, Donald W, Centeno-Cruz, Federico, Chambers, John C, Chami, Nathalie, Chan, Edmund, Chan, Juliana, Cheng, Ching-Yu, Cho, Yoon Shin, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, DeFronzo, Ralph A, Duggirala, Ravindranath, Dupuis, Josée, Garay-Sevilla, Ma Eugenia, García-Ortiz, Humberto, Gieger, Christian, Glaser, Benjamin, González-Villalpando, Clicerio, Gonzalez, Ma Elena, Grarup, Niels, Groop, Leif, Gross, Myron, Haiman, Christopher, Han, Sohee, Hanis, Craig L, Hansen, Torben, Heard-Costa, Nancy L, Henderson, Brian E, Hernandez, Juan Manuel Malacara, Hwang, Mi Yeong, Islas-Andrade, Sergio, Jørgensen, Marit E, Kang, Hyun Min, Kim, Bong-Jo, Kim, Young Jin, Koistinen, Heikki A, Kooner, Jaspal Singh, Kuusisto, Johanna, Kwak, Soo-Heon, Laakso, Markku, Lange, Leslie, Lee, Jong-Young, Lee, Juyoung, Lehman, Donna M, Linneberg, Allan, Liu, Jianjun, Loos, Ruth JF, Lyssenko, Valeriya, Ma, Ronald CW, Martínez-Hernández, Angélica, Meigs, James B, Meitinger, Thomas, Mendoza-Caamal, Elvia, Mohlke, Karen L, Morris, Andrew D, Morrison, Alanna C, Ng, Maggie CY, Nilsson, Peter M, O'Donnell, Christopher J, Orozco, Lorena, Palmer, Colin NA, Park, Kyong Soo, Post, Wendy S, Pedersen, Oluf, Preuss, Michael, Psaty, Bruce M, Reiner, Alexander P, Revilla-Monsalve, Cristina, Rich, Stephen S, Rotter, Jerome I, Saleheen, Danish, Schurmann, Claudia, Sim, Xueling, Sladek, Rob, and Small, Kerrin S

Subjects
AMP-T2D-GENES Consortia, Humans, Diabetes Mellitus, Type 2, Genetic Predisposition to Disease, Risk Assessment, Genotype, Multifactorial Inheritance, Penetrance, Adult, Dyslipidemias, Exome, Biomarkers, Biological Variation, Population
Abstract

Hundreds of thousands of genetic variants have been reported to cause severe monogenic diseases, but the probability that a variant carrier develops the disease (termed penetrance) is unknown for virtually all of them. Additionally, the clinical utility of common polygenetic variation remains uncertain. Using exome sequencing from 77,184 adult individuals (38,618 multi-ancestral individuals from a type 2 diabetes case-control study and 38,566 participants from the UK Biobank, for whom genotype array data were also available), we apply clinical standard-of-care gene variant curation for eight monogenic metabolic conditions. Rare variants causing monogenic diabetes and dyslipidemias display effect sizes significantly larger than the top 1% of the corresponding polygenic scores. Nevertheless, penetrance estimates for monogenic variant carriers average 60% or lower for most conditions. We assess epidemiologic and genetic factors contributing to risk prediction in monogenic variant carriers, demonstrating that inclusion of polygenic variation significantly improves biomarker estimation for two monogenic dyslipidemias.

Published
2021

4. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Author

Flannick, Jason, Mercader, Josep M, Fuchsberger, Christian, Udler, Miriam S, Mahajan, Anubha, Wessel, Jennifer, Teslovich, Tanya M, Caulkins, Lizz, Koesterer, Ryan, Barajas-Olmos, Francisco, Blackwell, Thomas W, Boerwinkle, Eric, Brody, Jennifer A, Centeno-Cruz, Federico, Chen, Ling, Chen, Siying, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, Cortes, Maria, DeFronzo, Ralph A, Dolan, Lawrence, Drews, Kimberly L, Elliott, Amanda, Floyd, James S, Gabriel, Stacey, Garay-Sevilla, Maria Eugenia, García-Ortiz, Humberto, Gross, Myron, Han, Sohee, Heard-Costa, Nancy L, Jackson, Anne U, Jørgensen, Marit E, Kang, Hyun Min, Kelsey, Megan, Kim, Bong-Jo, Koistinen, Heikki A, Kuusisto, Johanna, Leader, Joseph B, Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Lyssenko, Valeriya, Manning, Alisa K, Marcketta, Anthony, Malacara-Hernandez, Juan Manuel, Martínez-Hernández, Angélica, Matsuo, Karen, Mayer-Davis, Elizabeth, Mendoza-Caamal, Elvia, Mohlke, Karen L, Morrison, Alanna C, Ndungu, Anne, Ng, Maggie CY, O’Dushlaine, Colm, Payne, Anthony J, Pihoker, Catherine, Post, Wendy S, Preuss, Michael, Psaty, Bruce M, Vasan, Ramachandran S, Rayner, N William, Reiner, Alexander P, Revilla-Monsalve, Cristina, Robertson, Neil R, Santoro, Nicola, Schurmann, Claudia, So, Wing Yee, Soberón, Xavier, Stringham, Heather M, Strom, Tim M, Tam, Claudia HT, Thameem, Farook, Tomlinson, Brian, Torres, Jason M, Tracy, Russell P, van Dam, Rob M, Vujkovic, Marijana, Wang, Shuai, Welch, Ryan P, Witte, Daniel R, Wong, Tien-Yin, Atzmon, Gil, Barzilai, Nir, Blangero, John, Bonnycastle, Lori L, Bowden, Donald W, Chambers, John C, Chan, Edmund, Cheng, Ching-Yu, Cho, Yoon Shin, Collins, Francis S, de Vries, Paul S, Duggirala, Ravindranath, Glaser, Benjamin, Gonzalez, Clicerio, Gonzalez, Ma Elena, Groop, Leif, Kooner, Jaspal Singh, and Kwak, Soo Heon

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, Prevention, Biotechnology, Diabetes, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Animals, Case-Control Studies, Decision Support Techniques, Diabetes Mellitus, Type 2, Exome, Female, Gene Frequency, Genome-Wide Association Study, Humans, Male, Mice, Mice, Knockout, Exome Sequencing, Broad Genomics Platform, DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, AMP-T2D-GENES, General Science & Technology
Abstract

Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8 alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P = 6.1 × 10-3) and candidate genes from knockout mice (P = 5.2 × 10-3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000-185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts.

Published
2019

5. Exome Sequence Data of Eight SLC Transporters Reveal That SLC22A1 and SLC22A3 Variants Alter Metformin Pharmacokinetics and Glycemic Control.

Author

Morales-Rivera, Monserrat I., Alemón-Medina, Radamés, Martínez-Hernández, Angélica, Contreras-Cubas, Cecilia, Altamirano-Bustamante, Nelly F., Gómez-Garduño, Josefina, Mendoza-Caamal, Elvia C., Nuñez-González, J. Orlando, García-Álvarez, Raquel, Revilla-Monsalve, Cristina, Valcarcel-Gamiño, José Antonio, Villafan-Bernal, José Rafael, Centeno-Cruz, Federico, García-Ortiz, Humberto, Barajas-Olmos, Francisco, and Orozco, Lorena

Abstract

Background: Type 2 diabetes (T2D) is one of the leading causes of mortality and is a public health challenge worldwide. Metformin is the first-choice treatment for T2D; its pharmacokinetics (PK) is facilitated by members of the solute carrier (SLC) superfamily of transporters, it is not metabolized, and it is excreted by the kidney. Although interindividual variability in metformin pharmacokinetics is documented in the Mexican population, its pharmacogenomics is still underexplored. We aimed to identify variants in metformin SLC transporter genes associated with metformin PK and response in Mexican patients. Methods: Using exome data from 2217 Mexican adults, we identified 86 biallelic SNVs in the eight known genes encoding SLC transporters, with a minor allele frequency ≥ 1%, which were analyzed in an inadequate glycemic control (IGC) association study in T2D metformin treated patients. Metformin PK was evaluated in a pediatric cohort and the effect of associated SNVs was correlated. Results: Functional annotation classified two SNVs as pathogenic. The association study revealed two blocks associated with IGC. These haplotypes comprise rs622591, rs4646272, rs4646273, and rs4646276 in SLC22A1; and rs1810126 and rs668871 in SLC22A3. PK profiles revealed that homozygotes of the SLC22A1 haplotype reached lower plasma metformin concentrations 2 h post administration than the other groups. Conclusions: Our findings highlight the potential of pharmacogenomics studies to enhance precision medicine, which may involve dosage adjustments or the exploration of alternative therapeutic options. These hold significant implications for public health, particularly in populations with a high susceptibility to develop metabolic diseases, such as Latin Americans. [ABSTRACT FROM AUTHOR]

Published
2024
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6. IKZF1plus is a frequent biomarker of adverse prognosis in Mexican pediatric patients with B-acute lymphoblastic leukemia

Author

Garcia-Solorio, Joaquin, primary, Núñez-Enriquez, Juan Carlos, additional, Jiménez-Olivares, Marco, additional, Flores-Lujano, Janet, additional, Flores-Espino, Fernanda, additional, Molina-Garay, Carolina, additional, Cervera, Alejandra, additional, Casique-Aguirre, Diana, additional, Peñaloza-Gonzalez, José Gabriel, additional, Baños-Lara, Ma. Del Rocío, additional, García-Soto, Ángel, additional, Galván-Díaz, César Alejandro, additional, Olaya-Vargas, Alberto, additional, Aguilar, Hilario Flores, additional, Mata-Rocha, Minerva, additional, Garrido-Hernández, Miguel Ángel, additional, Solís-Poblano, Juan Carlos, additional, Luna-Silva, Nuria Citlalli, additional, Cano-Cuapio, Lena Sarahi, additional, Aristil-Chery, Pierre Mitchel, additional, Herrera-Quezada, Fernando, additional, Carrillo-Sanchez, Karol, additional, Muñoz-Rivas, Anallely, additional, Flores-Lagunes, Luis Leonardo, additional, Mendoza-Caamal, Elvia Cristina, additional, Villegas-Torres, Beatriz Eugenia, additional, González-Osnaya, Vincent, additional, Jiménez-Hernández, Elva, additional, Torres-Nava, José Refugio, additional, Martín-Trejo, Jorge Alfonso, additional, Gutiérrez-Rivera, María de Lourdes, additional, Espinosa-Elizondo, Rosa Martha, additional, Merino-Pasaye, Laura Elizabeth, additional, Pérez-Saldívar, María Luisa, additional, Jiménez-Morales, Silvia, additional, Curiel-Quesada, Everardo, additional, Rosas-Vargas, Haydeé, additional, Mejía-Arangure, Juan Manuel, additional, and Alaez-Verson, Carmen, additional

Published
2024
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7. Case report: A familial B-acute lymphoblastic leukemia associated with a new germline pathogenic variant in PAX5. The first report in Mexico

Author

García-Solorio, Joaquín, primary, Martínez-Villegas, Octavio, additional, Rodríguez-Corona, Ulises, additional, Molina-Garay, Carolina, additional, Jiménez-Olivares, Marco, additional, Carrillo-Sanchez, Karol, additional, Mendoza-Caamal, Elvia C., additional, Muñoz-Rivas, Anallely, additional, Villegas-Torres, Beatriz E., additional, Cervera, Alejandra, additional, Flores-Lagunes, Luis L., additional, and Alaez-Verson, Carmen, additional

Published
2024
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8. The L125F MATE1 variant enriched in populations of Amerindian origin is associated with increased plasma levels of metformin and lactate

Author

Morales-Rivera, Monserrat I., Alemón-Medina, Radamés, Martínez-Hernández, Angélica, Gómez-Garduño, Josefina, Mirzaeicheshmeh, Elaheh, Altamirano-Bustamante, Nelly F., Ilizaliturri-Flores, Ian, Mendoza-Caamal, Elvia C., Pérez-Guillé, María G., García-Álvarez, Raquel, Contreras-Cubas, Cecilia, Centeno-Cruz, Federico, Revilla-Monsalve, Cristina, García-Ortiz, Humberto, Barajas-Olmos, Francisco, and Orozco, Lorena

Published
2021
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9. Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans

Author

Alonso‐Luna, Oscar, primary, Mercado‐Celis, Gabriela E., additional, Melendez‐Zajgla, Jorge, additional, Barquera, Rodrigo, additional, Zapata‐Tarres, Marta, additional, Juárez‐Villegas, Luis Enrique, additional, Mendoza‐Caamal, Elvia Cristina, additional, Rey‐Helo, Elianeth, additional, and Borges‐Yañez, Socorro Aida, additional

Published
2023
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10. Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum

Author

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

Published
2021
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11. The genomic landscape of Mexican Indigenous populations brings insights into the peopling of the Americas

Author

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

Published
2021
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12. 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

13. Whole mitogenome analysis highlights demographic history and shared connections among distal Indigenous groups of Mexico Complete mitogenome sequencing from 60 Mexican Native American groups

Author

Flores-Huacuja, Marlen, primary, Snow, Meradeth, additional, Ramos-Madrigal, Jazmin, additional, Contreras-Cubas, Cecilia, additional, Barajas-Olmos, Francisco, additional, Gonzalez-Oliver, Angelica, additional, Mendoza-Caamal, Elvia, additional, Ciceron-Arellano, Isabel, additional, Centeno-Cruz, Federico, additional, Cordova, Emilio J., additional, Baca, Paulina, additional, Flores-Martinez, Silvia Esperanza, additional, Ortiz-Lopez, Rocio, additional, Reynolds, Austin W., additional, Kostic, Aleksandar David, additional, Villafan-Bernal, Jose Rafael, additional, Galaviz-Hernandez, Carlos, additional, Garcia-Zapien, Alejandra Guadalupe, additional, Miranda-Ortiz, Haydee, additional, Lazalde-Ramos, Blanca Patricia, additional, Loeza-Becerra, Francisco, additional, Carnevale, Alessandra, additional, Rangel-Villalobos, Hector, additional, Sosa-Macias, Martha, additional, Rojas-Martinez, Augusto, additional, Martinez-Hernandez, Angelica, additional, Garcia-Ortiz, Humberto, additional, and Orozco, Lorena, additional

Published
2023
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14. Germline mutations in pediatric cancer cohort with mixed‐ancestry Mexicans.

Author

Alonso‐Luna, Oscar, Mercado‐Celis, Gabriela E., Melendez‐Zajgla, Jorge, Barquera, Rodrigo, Zapata‐Tarres, Marta, Juárez‐Villegas, Luis Enrique, Mendoza‐Caamal, Elvia Cristina, Rey‐Helo, Elianeth, and Borges‐Yañez, Socorro Aida

Subjects
CHILDHOOD cancer, LATIN Americans, GERM cells, HEMATOLOGIC malignancies, POPULATION genetics, CHILD death
Abstract

Background: Childhood cancer is one of the primary causes of disease‐related death in 5‐ to 14‐year‐old children and currently no prevention strategies exist to reduce the incidence of this disease. Childhood cancer has a larger hereditary component compared with cancer in adults. Few genetic studies have been conducted on children with cancer. Additionally, Latin American populations are underrepresented in genomic studies compared with other populations. Therefore, the aim of this study is to analyze germline mutations in a group of mixed‐ancestry Mexican pediatric patients with solid and hematological cancers. Methods: We analyzed genetic variants from 40 Mexican childhood cancer patients and their relatives. DNA from saliva or blood samples was used for whole‐exome sequencing. All variants were identified following GATK best practices. Results: We found that six patients (15%) were carriers of germline mutations in CDKN2A, CHEK2, DICER1, FANCA, MSH6, MUTYH, NF1, and SBDS cancer predisposition genes, and additional new variants predicted to be deleterious by in silico algorithms. A population genetics analysis detected five components consistent with the demographic models assumed for modern mixed‐ancestry Mexicans. Conclusions: This report identifies potential genetic risk factors and provides a better understanding of the underlying mechanisms of childhood cancer in this population. [ABSTRACT FROM AUTHOR]

Published
2024
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17. Unraveling Signatures of Local Adaptation among Indigenous Groups from Mexico

Author

García-Ortiz, Humberto, primary, Barajas-Olmos, Francisco, additional, Contreras-Cubas, Cecilia, additional, Reynolds, Austin W., additional, Flores-Huacuja, Marlen, additional, Snow, Meradeth, additional, Ramos-Madrigal, Jazmín, additional, Mendoza-Caamal, Elvia, additional, Baca, Paulina, additional, López-Escobar, Tomás A., additional, Bolnick, Deborah A., additional, Flores-Martínez, Silvia Esperanza, additional, Ortiz-Lopez, Rocio, additional, Kostic, Aleksandar David, additional, Villafan-Bernal, José Rafael, additional, Galaviz-Hernández, Carlos, additional, Centeno-Cruz, Federico, additional, García-Zapién, Alejandra Guadalupe, additional, Monge-Cázares, Tulia, additional, Lazalde-Ramos, Blanca Patricia, additional, Loeza-Becerra, Francisco, additional, Abrahantes-Pérez, María del Carmen, additional, Rangel-Villalobos, Héctor, additional, Sosa-Macías, Martha, additional, Rojas-Martínez, Augusto, additional, Martínez-Hernández, Angélica, additional, and Orozco, Lorena, additional

Published
2022
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18. Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci

Author

Jurado-Camacho, Pedro A., primary, Cid-Soto, Miguel A., additional, Barajas-Olmos, Francisco, additional, García-Ortíz, Humberto, additional, Baca-Peynado, Paulina, additional, Martínez-Hernández, Angélica, additional, Centeno-Cruz, Federico, additional, Contreras-Cubas, Cecilia, additional, González-Villalpando, María Elena, additional, Saldaña-Álvarez, Yolanda, additional, Salas-Martinez, Guadalupe, additional, Mendoza-Caamal, Elvia C., additional, González-Villalpando, Clicerio, additional, Córdova, Emilio J., additional, and Orozco, Lorena, additional

Published
2022
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19. Genetic Distribution of Five Spinocerebellar Ataxia Microsatellite Loci in Mexican Native American Populations and Its Impact on Contemporary Mestizo Populations

Author

Gómez, Rocío, primary, Tapia-Guerrero, Yessica S., additional, Cisneros, Bulmaro, additional, Orozco, Lorena, additional, Cerecedo-Zapata, César, additional, Mendoza-Caamal, Elvia, additional, Leyva-Gómez, Gerardo, additional, Leyva-García, Norberto, additional, Velázquez-Pérez, Luis, additional, and Magaña, Jonathan J., additional

Published
2022
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20. Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes

Author

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

Published
2022
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21. Additional file 1 of Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum

Author

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

Abstract

Additional file 1. Figure S1. Glucose tolerance curves. Table S1. Variants on DYRK1B in a sample of 968 Mexican Mestizos. Table S2. Pulse wave velocity and other biochemical studies.

Published
2021
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22. Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population

Author

Estrada, Karol, Aukrust, Ingvild, Bjørkhaug, Lise, Burtt, Noël P., Mercader, Josep M., García-Ortiz, Humberto, Huerta-Chagoya, Alicia, Moreno-Macías, Hortensia, Walford, Geoffrey, Flannick, Jason, Williams, Amy L., Gómez-Vázquez, María J., Fernandez-Lopez, Juan C., Martínez-Hernández, Angélica, Centeno-Cruz, Federico, Mendoza-Caamal, Elvia, Revilla-Monsalve, Cristina, Islas-Andrade, Sergio, Córdova, Emilio J., Soberón, Xavier, González-Villalpando, María E., Henderson, E., Wilkens, Lynne R., Le Marchand, Loic, Ordóñez-Sánchez, Maria L., Rodríguez-Torres, Maribel, Rodríguez-Guillén, Rosario, Riba, Laura, Najmi, Laeya A., Jacobs, Suzanne B.R., Fennell, Timothy, Gabriel, Stacey, Fontanillas, Pierre, Hanis, Craig L., Lehman, Donna M., Jenkinson, Christopher P., Abboud, Hanna E., Bell, Graeme I., Cortes, Maria L., Boehnke, Michael, González-Villalpando, Clicerio, Orozco, Lorena, Haiman, Christopher A., Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Altshuler, David, Njølstad, Pål R., Florez, Jose C., and MacArthur, Daniel G.

Published
2014
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23. Additional file 1 of Metabolic syndrome in indigenous communities in Mexico: a descriptive and cross-sectional study

Author

Mendoza-Caamal, Elvia Cristina, Barajas-Olmos, Francisco, García-Ortiz, Humberto, Cicerón-Arellano, Isabel, Martínez-Hernández, Angélica, Córdova, Emilio J., Esparza-Aguilar, Marcelino, Contreras-Cubas, Cecilia, Centeno-Cruz, Federico, Cid-Soto, Miguel, Morales-Marín, Mirna Edith, Reséndiz-Rodríguez, Adriana, Jiménez-Ruiz, Juan Luis, Salas-Martínez, María Guadalupe, Saldaña-Alvarez, Yolanda, Mirzaeicheshmeh, Elaheh, Rojas-Martínez, María Rosalba, and Orozco, Lorena

Abstract

Additional file 1. Prevalence of Metabolic Syndrome and its components by gender and age group. Description of data: Data are presented as frequency (95% confidence intervals) and prevalences were calculated according to American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement criteria.

Published
2020
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24. Alterations of DNA methylation during adipogenesis differentiation of mesenchymal stem cells isolated from adipose tissue of patients with obesity is associated with type 2 diabetes

Author

Mirzaeicheshmeh, Elaheh, primary, Zerrweck, Carlos, additional, Centeno-Cruz, Federico, additional, Baca-Peynado, Paulina, additional, Martinez-Hernandez, Angélica, additional, García-Ortiz, Humberto, additional, Contreras-Cubas, Cecilia, additional, Salas-Martínez, María Guadalupe, additional, Saldaña-Alvarez, Yolanda, additional, Mendoza-Caamal, Elvia C., additional, Barajas-Olmos, Francisco, additional, and Orozco, Lorena, additional

Published
2021
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25. Two Novel Variants in DYRK1B causative of AOMS3: Expanding the Clinical Spectrum

Author

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

Published
2020
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26. Metabolic syndrome in indigenous communities in Mexico: a descriptive and cross-sectional study

Author

Mendoza-Caamal, Elvia Cristina, primary, Barajas-Olmos, Francisco, additional, García-Ortiz, Humberto, additional, Cicerón-Arellano, Isabel, additional, Martínez-Hernández, Angélica, additional, Córdova, Emilio J., additional, Esparza-Aguilar, Marcelino, additional, Contreras-Cubas, Cecilia, additional, Centeno-Cruz, Federico, additional, Cid-Soto, Miguel, additional, Morales-Marín, Mirna Edith, additional, Reséndiz-Rodríguez, Adriana, additional, Jiménez-Ruiz, Juan Luis, additional, Salas-Martínez, María Guadalupe, additional, Saldaña-Alvarez, Yolanda, additional, Mirzaeicheshmeh, Elaheh, additional, Rojas-Martínez, María Rosalba, additional, and Orozco, Lorena, additional

Published
2020
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27. Genetic variability of five ADRB2 polymorphisms among Mexican Amerindian ethnicities and the Mestizo population

Author

Salas-Martínez, María Guadalupe, primary, Saldaña-Alvarez, Yolanda, additional, Cordova, Emilio J., additional, Mendiola-Soto, Diana Karen, additional, Cid-Soto, Miguel A., additional, Luckie-Duque, Angélica, additional, Vicenteño-Ayala, Hermenegildo, additional, Barajas-Olmos, Francisco, additional, Contreras-Cubas, Cecilia, additional, García-Ortiz, Humberto, additional, Jiménez-Ruíz, Juan L., additional, Centeno-Cruz, Federico, additional, Martínez-Hernández, Angélica, additional, Mendoza-Caamal, Elvia C., additional, Mirzaeicheshmeh, Elaheh, additional, and Orozco, Lorena, additional

Published
2019
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29. Gene variants in AKT1, GCKR and SOCS3 are differentially associated with metabolic traits in Mexican Amerindians and Mestizos

Author

Cid-Soto, Miguel A., primary, Martínez-Hernández, Angélica, additional, García-Ortíz, Humberto, additional, Córdova, Emilio J., additional, Barajas-Olmos, Francisco, additional, Centeno-Cruz, Federico, additional, Contreras-Cubas, Cecilia, additional, Mendoza-Caamal, Elvia C., additional, Ciceron-Arellano, Isabel, additional, Morales-Rivera, Monserrat I., additional, Jimenez-Ruiz, Juan L., additional, Salas-Martínez, Guadalupe, additional, Saldaña-Álvarez, Yolanda, additional, Revilla-Monsalve, Cristina, additional, Islas-Andrade, Sergio, additional, and Orozco, Lorena, additional

Published
2018
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30. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Author

Massachusetts Institute of Technology. Department of Biology, Altshuler, David M, Lander, Eric Steven, Rusu, Victor, Hoch, Eitan, Mercader, Josep M., Tenen, Danielle E., Gymrek, Melissa, Hartigan, Christina R., DeRan, Michael, von Grotthuss, Marcin, Fontanillas, Pierre, Spooner, Alexandra, Guzman, Gaelen, Deik, Amy A., Pierce, Kerry A., Dennis, Courtney, Clish, Clary B., Carr, Steven A., Wagner, Bridget K., Schenone, Monica, Ng, Maggie C.Y., Chen, Brian H., Centeno-Cruz, Federico, Zerrweck, Carlos, Orozco, Lorena, Schreiber, Stuart L., Florez, Jose C., Jacobs, Suzanne B.R., Shriner, Daniel, Li, Jiang, Chen, Wei-Min, Guo, Xiuqing, Liu, Jiankang, Bielinski, Suzette J., Yanek, Lisa R., Nalls, Michael A., Comeau, Mary E., Rasmussen-Torvik, Laura J., Jensen, Richard A., Evans, Daniel S., Sun, Yan V., An, Ping, Patel, Sanjay R., Lu, Yingchang, Long, Jirong, Armstrong, Loren L., Wagenknecht, Lynne, Yang, Lingyao, Snively, Beverly M., Palmer, Nicholette D., Mudgal, Poorva, Langefeld, Carl D., Keene, Keith L., Freedman, Barry I., Mychaleckyj, Josyf C., Nayak, Uma, Raffel, Leslie J., Goodarzi, Mark O., Chen, Y-D Ida, Taylor, Herman A., Correa, Adolfo, Sims, Mario, Couper, David, Pankow, James S., Boerwinkle, Eric, Adeyemo, Adebowale, Doumatey, Ayo, Chen, Guanjie, Mathias, Rasika A., Vaidya, Dhananjay, Singleton, Andrew B., Zonderman, Alan B., Igo, Robert P., Sedor, John R., Kabagambe, Edmond K., Siscovick, David S., McKnight, Barbara, Rice, Kenneth, Liu, Yongmei, Hsueh, Wen-Chi, Zhao, Wei, Bielak, Lawrence F., Kraja, Aldi, Province, Michael A., Bottinger, Erwin P., Gottesman, Omri, Cai, Qiuyin, Zheng, Wei, Blot, William J., Lowe, William L., Pacheco, Jennifer A., Crawford, Dana C., Grundberg, Elin, Rich, Stephen S., Hayes, M. Geoffrey, Shu, Xiao-Ou, Loos, Ruth J.F., Borecki, Ingrid B., Peyser, Patricia A., Cummings, Steven R., Psaty, Bruce M., Fornage, Myriam, Iyengar, Sudha K., Evans, Michele K., Becker, Diane M., Kao, W.H. Linda, Wilson, James G., Rotter, Jerome I., Sale, Michèle M., Liu, Simin, Rotimi, Charles N., Bowden, Donald W., Huerta-Chagoya, Alicia, García-Ortiz, Humberto, Moreno-Macías, Hortensia, Manning, Alisa, Caulkins, Lizz, Burtt, Noël P., Flannick, Jason, Patterson, Nick, Aguilar-Salinas, Carlos A., Tusié-Luna, Teresa, Altshuler, David, Martínez-Hernández, Angélica, Barajas-Olmos, Francisco Martin, Contreras-Cubas, Cecilia, Mendoza-Caamal, Elvia, Revilla-Monsalve, Cristina, Islas-Andrade, Sergio, Córdova, Emilio, Soberón, Xavier, González-Villalpando, Clicerio, González-Villalpando, María Elena, Haiman, Christopher A., Wilkens, Lynne, Le Marchand, Loic, Monroe, Kristine, Kolonel, Laurence, Arellano-Campos, Olimpia, Ordóñez-Sánchez, Maria L., Rodríguez-Torres, Maribel, Segura-Kato, Yayoi, Rodríguez-Guillén, Rosario, Cruz-Bautista, Ivette, Muñoz-Hernandez, Linda Liliana, Sáenz, Tamara, Gómez, Donají, Alvirde, Ulices, Almeda-Valdés, Paloma, Cortes, Maria L., Massachusetts Institute of Technology. Department of Biology, Altshuler, David M, Lander, Eric Steven, Rusu, Victor, Hoch, Eitan, Mercader, Josep M., Tenen, Danielle E., Gymrek, Melissa, Hartigan, Christina R., DeRan, Michael, von Grotthuss, Marcin, Fontanillas, Pierre, Spooner, Alexandra, Guzman, Gaelen, Deik, Amy A., Pierce, Kerry A., Dennis, Courtney, Clish, Clary B., Carr, Steven A., Wagner, Bridget K., Schenone, Monica, Ng, Maggie C.Y., Chen, Brian H., Centeno-Cruz, Federico, Zerrweck, Carlos, Orozco, Lorena, Schreiber, Stuart L., Florez, Jose C., Jacobs, Suzanne B.R., Shriner, Daniel, Li, Jiang, Chen, Wei-Min, Guo, Xiuqing, Liu, Jiankang, Bielinski, Suzette J., Yanek, Lisa R., Nalls, Michael A., Comeau, Mary E., Rasmussen-Torvik, Laura J., Jensen, Richard A., Evans, Daniel S., Sun, Yan V., An, Ping, Patel, Sanjay R., Lu, Yingchang, Long, Jirong, Armstrong, Loren L., Wagenknecht, Lynne, Yang, Lingyao, Snively, Beverly M., Palmer, Nicholette D., Mudgal, Poorva, Langefeld, Carl D., Keene, Keith L., Freedman, Barry I., Mychaleckyj, Josyf C., Nayak, Uma, Raffel, Leslie J., Goodarzi, Mark O., Chen, Y-D Ida, Taylor, Herman A., Correa, Adolfo, Sims, Mario, Couper, David, Pankow, James S., Boerwinkle, Eric, Adeyemo, Adebowale, Doumatey, Ayo, Chen, Guanjie, Mathias, Rasika A., Vaidya, Dhananjay, Singleton, Andrew B., Zonderman, Alan B., Igo, Robert P., Sedor, John R., Kabagambe, Edmond K., Siscovick, David S., McKnight, Barbara, Rice, Kenneth, Liu, Yongmei, Hsueh, Wen-Chi, Zhao, Wei, Bielak, Lawrence F., Kraja, Aldi, Province, Michael A., Bottinger, Erwin P., Gottesman, Omri, Cai, Qiuyin, Zheng, Wei, Blot, William J., Lowe, William L., Pacheco, Jennifer A., Crawford, Dana C., Grundberg, Elin, Rich, Stephen S., Hayes, M. Geoffrey, Shu, Xiao-Ou, Loos, Ruth J.F., Borecki, Ingrid B., Peyser, Patricia A., Cummings, Steven R., Psaty, Bruce M., Fornage, Myriam, Iyengar, Sudha K., Evans, Michele K., Becker, Diane M., Kao, W.H. Linda, Wilson, James G., Rotter, Jerome I., Sale, Michèle M., Liu, Simin, Rotimi, Charles N., Bowden, Donald W., Huerta-Chagoya, Alicia, García-Ortiz, Humberto, Moreno-Macías, Hortensia, Manning, Alisa, Caulkins, Lizz, Burtt, Noël P., Flannick, Jason, Patterson, Nick, Aguilar-Salinas, Carlos A., Tusié-Luna, Teresa, Altshuler, David, Martínez-Hernández, Angélica, Barajas-Olmos, Francisco Martin, Contreras-Cubas, Cecilia, Mendoza-Caamal, Elvia, Revilla-Monsalve, Cristina, Islas-Andrade, Sergio, Córdova, Emilio, Soberón, Xavier, González-Villalpando, Clicerio, González-Villalpando, María Elena, Haiman, Christopher A., Wilkens, Lynne, Le Marchand, Loic, Monroe, Kristine, Kolonel, Laurence, Arellano-Campos, Olimpia, Ordóñez-Sánchez, Maria L., Rodríguez-Torres, Maribel, Segura-Kato, Yayoi, Rodríguez-Guillén, Rosario, Cruz-Bautista, Ivette, Muñoz-Hernandez, Linda Liliana, Sáenz, Tamara, Gómez, Donají, Alvirde, Ulices, Almeda-Valdés, Paloma, and Cortes, Maria L.

Abstract

Type 2 diabetes (T2D) affects Latinos at twice the rate seen in populations of European descent. We recently identified a risk haplotype spanning SLC16A11 that explains ∼20% of the increased T2D prevalence in Mexico. Here, through genetic fine-mapping, we define a set of tightly linked variants likely to contain the causal allele(s). We show that variants on the T2D-associated haplotype have two distinct effects: (1) decreasing SLC16A11 expression in liver and (2) disrupting a key interaction with basigin, thereby reducing cell-surface localization. Both independent mechanisms reduce SLC16A11 function and suggest SLC16A11 is the causal gene at this locus. To gain insight into how SLC16A11 disruption impacts T2D risk, we demonstrate that SLC16A11 is a proton-coupled monocarboxylate transporter and that genetic perturbation of SLC16A11 induces changes in fatty acid and lipid metabolism that are associated with increased T2D risk. Our findings suggest that increasing SLC16A11 function could be therapeutically beneficial for T2D. Video Abstract [Figure presented] Keywords: type 2 diabetes (T2D); genetics; disease mechanism; SLC16A11; MCT11; solute carrier (SLC); monocarboxylates; fatty acid metabolism; lipid metabolism; precision medicine

Published
2018

31. Genomics of a pediatric ovarian fibrosarcoma. Association with the DICER1 syndrome

Author

Melendez-Zajgla, Jorge, primary, Mercado-Celis, Gabriela E., additional, Gaytan-Cervantes, Javier, additional, Torres, Amada, additional, Gabiño, Nayeli Belem, additional, Zapata-Tarres, Martha, additional, Juarez-Villegas, Luis Enrique, additional, Lezama, Pablo, additional, Maldonado, Vilma, additional, Ruiz-Monroy, Karen, additional, and Mendoza-Caamal, Elvia, additional

Published
2018
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32. Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Author

Rusu, Victor, primary, Hoch, Eitan, additional, Mercader, Josep M., additional, Tenen, Danielle E., additional, Gymrek, Melissa, additional, Hartigan, Christina R., additional, DeRan, Michael, additional, von Grotthuss, Marcin, additional, Fontanillas, Pierre, additional, Spooner, Alexandra, additional, Guzman, Gaelen, additional, Deik, Amy A., additional, Pierce, Kerry A., additional, Dennis, Courtney, additional, Clish, Clary B., additional, Carr, Steven A., additional, Wagner, Bridget K., additional, Schenone, Monica, additional, Ng, Maggie C.Y., additional, Chen, Brian H., additional, Centeno-Cruz, Federico, additional, Zerrweck, Carlos, additional, Orozco, Lorena, additional, Altshuler, David M., additional, Schreiber, Stuart L., additional, Florez, Jose C., additional, Jacobs, Suzanne B.R., additional, Lander, Eric S., additional, Shriner, Daniel, additional, Li, Jiang, additional, Chen, Wei-Min, additional, Guo, Xiuqing, additional, Liu, Jiankang, additional, Bielinski, Suzette J., additional, Yanek, Lisa R., additional, Nalls, Michael A., additional, Comeau, Mary E., additional, Rasmussen-Torvik, Laura J., additional, Jensen, Richard A., additional, Evans, Daniel S., additional, Sun, Yan V., additional, An, Ping, additional, Patel, Sanjay R., additional, Lu, Yingchang, additional, Long, Jirong, additional, Armstrong, Loren L., additional, Wagenknecht, Lynne, additional, Yang, Lingyao, additional, Snively, Beverly M., additional, Palmer, Nicholette D., additional, Mudgal, Poorva, additional, Langefeld, Carl D., additional, Keene, Keith L., additional, Freedman, Barry I., additional, Mychaleckyj, Josyf C., additional, Nayak, Uma, additional, Raffel, Leslie J., additional, Goodarzi, Mark O., additional, Chen, Y-D Ida, additional, Taylor, Herman A., additional, Correa, Adolfo, additional, Sims, Mario, additional, Couper, David, additional, Pankow, James S., additional, Boerwinkle, Eric, additional, Adeyemo, Adebowale, additional, Doumatey, Ayo, additional, Chen, Guanjie, additional, Mathias, Rasika A., additional, Vaidya, Dhananjay, additional, Singleton, Andrew B., additional, Zonderman, Alan B., additional, Igo, Robert P., additional, Sedor, John R., additional, Kabagambe, Edmond K., additional, Siscovick, David S., additional, McKnight, Barbara, additional, Rice, Kenneth, additional, Liu, Yongmei, additional, Hsueh, Wen-Chi, additional, Zhao, Wei, additional, Bielak, Lawrence F., additional, Kraja, Aldi, additional, Province, Michael A., additional, Bottinger, Erwin P., additional, Gottesman, Omri, additional, Cai, Qiuyin, additional, Zheng, Wei, additional, Blot, William J., additional, Lowe, William L., additional, Pacheco, Jennifer A., additional, Crawford, Dana C., additional, Grundberg, Elin, additional, Rich, Stephen S., additional, Hayes, M. Geoffrey, additional, Shu, Xiao-Ou, additional, Loos, Ruth J.F., additional, Borecki, Ingrid B., additional, Peyser, Patricia A., additional, Cummings, Steven R., additional, Psaty, Bruce M., additional, Fornage, Myriam, additional, Iyengar, Sudha K., additional, Evans, Michele K., additional, Becker, Diane M., additional, Kao, W.H. Linda, additional, Wilson, James G., additional, Rotter, Jerome I., additional, Sale, Michèle M., additional, Liu, Simin, additional, Rotimi, Charles N., additional, Bowden, Donald W., additional, Huerta-Chagoya, Alicia, additional, García-Ortiz, Humberto, additional, Moreno-Macías, Hortensia, additional, Manning, Alisa, additional, Caulkins, Lizz, additional, Burtt, Noël P., additional, Flannick, Jason, additional, Patterson, Nick, additional, Aguilar-Salinas, Carlos A., additional, Tusié-Luna, Teresa, additional, Altshuler, David, additional, Martínez-Hernández, Angélica, additional, Barajas-Olmos, Francisco Martin, additional, Contreras-Cubas, Cecilia, additional, Mendoza-Caamal, Elvia, additional, Revilla-Monsalve, Cristina, additional, Islas-Andrade, Sergio, additional, Córdova, Emilio, additional, Soberón, Xavier, additional, González-Villalpando, Clicerio, additional, González-Villalpando, María Elena, additional, Haiman, Christopher A., additional, Wilkens, Lynne, additional, Le Marchand, Loic, additional, Monroe, Kristine, additional, Kolonel, Laurence, additional, Arellano-Campos, Olimpia, additional, Ordóñez-Sánchez, Maria L., additional, Rodríguez-Torres, Maribel, additional, Segura-Kato, Yayoi, additional, Rodríguez-Guillén, Rosario, additional, Cruz-Bautista, Ivette, additional, Muñoz-Hernandez, Linda Liliana, additional, Sáenz, Tamara, additional, Gómez, Donají, additional, Alvirde, Ulices, additional, Almeda-Valdés, Paloma, additional, and Cortes, Maria L., additional

Published
2017
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33. 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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34. Association of a Low-Frequency Variant inHNF1AWith Type 2 Diabetes in a Latino Population

Author

Estrada, Karol, additional, Aukrust, Ingvild, additional, Bjørkhaug, Lise, additional, Burtt, Noël P., additional, Mercader, Josep M., additional, García-Ortiz, Humberto, additional, Huerta-Chagoya, Alicia, additional, Moreno-Macías, Hortensia, additional, Walford, Geoffrey, additional, Flannick, Jason, additional, Williams, Amy L., additional, Gómez-Vázquez, María J., additional, Fernandez-Lopez, Juan C., additional, Martínez-Hernández, Angélica, additional, Centeno-Cruz, Federico, additional, Mendoza-Caamal, Elvia, additional, Revilla-Monsalve, Cristina, additional, Islas-Andrade, Sergio, additional, Córdova, Emilio J., additional, Soberón, Xavier, additional, González-Villalpando, María E., additional, Henderson, E., additional, Wilkens, Lynne R., additional, Le Marchand, Loic, additional, Arellano-Campos, Olimpia, additional, Ordóñez-Sánchez, Maria L., additional, Rodríguez-Torres, Maribel, additional, Rodríguez-Guillén, Rosario, additional, Riba, Laura, additional, Najmi, Laeya A., additional, Jacobs, Suzanne B.R., additional, Fennell, Timothy, additional, Gabriel, Stacey, additional, Fontanillas, Pierre, additional, Hanis, Craig L., additional, Lehman, Donna M., additional, Jenkinson, Christopher P., additional, Abboud, Hanna E., additional, Bell, Graeme I., additional, Cortes, Maria L., additional, Boehnke, Michael, additional, González-Villalpando, Clicerio, additional, Orozco, Lorena, additional, Haiman, Christopher A., additional, Tusié-Luna, Teresa, additional, Aguilar-Salinas, Carlos A., additional, Altshuler, David, additional, Njølstad, Pål R., additional, Florez, Jose C., additional, and MacArthur, Daniel G., additional

Published
2014
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35. Defectos congénitos asociados con translucencia nucal aumentada.

Author

Cristina Mendoza-Caamal, Elvia, Grether-González, Patricia, Hernández-Gómez, Mariana, Guzmán-Huerta, Mario, and Aguinaga-Ríos, Mónica

Subjects
HUMAN abnormalities, CHROMOSOME abnormalities, FETAL ultrasonic imaging, FETAL echocardiography, DIAGNOSIS of Down syndrome, TURNER'S syndrome, TRISOMY, PREGNANCY complications, DISEASE risk factors
Abstract

Copyright of Ginecología y Obstetricia de México is the property of Federacion Mexicana de Ginecologia y Obstetricia and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2010

36. IKZF1 plus is a frequent biomarker of adverse prognosis in Mexican pediatric patients with B-acute lymphoblastic leukemia.

Author

Garcia-Solorio J, Núñez-Enriquez JC, Jiménez-Olivares M, Flores-Lujano J, Flores-Espino F, Molina-Garay C, Cervera A, Casique-Aguirre D, Peñaloza-Gonzalez JG, Baños-Lara MDR, García-Soto Á, Galván-Díaz CA, Olaya-Vargas A, Aguilar HF, Mata-Rocha M, Garrido-Hernández MÁ, Solís-Poblano JC, Luna-Silva NC, Cano-Cuapio LS, Aristil-Chery PM, Herrera-Quezada F, Carrillo-Sanchez K, Muñoz-Rivas A, Flores-Lagunes LL, Mendoza-Caamal EC, Villegas-Torres BE, González-Osnaya V, Jiménez-Hernández E, Torres-Nava JR, Martín-Trejo JA, Gutiérrez-Rivera ML, Espinosa-Elizondo RM, Merino-Pasaye LE, Pérez-Saldívar ML, Jiménez-Morales S, Curiel-Quesada E, Rosas-Vargas H, Mejía-Arangure JM, and Alaez-Verson C

Abstract

Background: Recurrent genetic alterations contributing to leukemogenesis have been identified in pediatric B-cell Acute Lymphoblastic Leukemia (B-ALL), and some are useful for refining classification, prognosis, and treatment selection. IKZF1 plus is a complex biomarker associated with a poor prognosis. It is characterized by IKZF1 deletion coexisting with PAX5 , CDKN2A/2B , or PAR1 region deletions. The mutational spectrum and clinical impact of these alterations have scarcely been explored in Mexican pediatric patients with B-ALL. Here, we report the frequency of the IKZF1 plus profile and the mutational spectrum of IKZF1, PAX5, CDKN2A/2B , and ERG genes and evaluate their impact on overall survival (OS) in a group of patients with B-ALL., Methods: A total of 206 pediatric patients with de novo B-ALL were included. DNA was obtained from bone marrow samples at diagnosis before treatment initiation. A custom-designed next-generation sequencing panel was used for mutational analysis. Kaplan-Meier analysis was used for OS estimation., Results: We identified the IKZF1 plus profile in 21.8% of patients, which was higher than that previously reported in other studies. A significantly older age ( p=0.04 ), a trend toward high-risk stratification ( p=0.06 ), and a decrease in 5-year Overall Survival (OS) ( p=0.009 ) were observed, although heterogeneous treatment protocols in our cohort would have impacted OS. A mutation frequency higher than that reported was found for IKZF1 (35.9%) and CDKN2A/2B (35.9%) but lower for PAX5 (26.6%). IKZF1 MUT group was older at diagnosis ( p=0.0002 ), and most of them were classified as high-risk (73.8%, p=0.02 ), while patients with CDKN2A/2B MUT had a higher leukocyte count ( p=0.01 ) and a tendency toward a higher percentage of blasts (98.6%, >50% blasts, p=0.05 ) than the non-mutated patients. A decrease in OS was found in IKZF1 MUT and CDKN2A/2B MUT patients, but the significance was lost after IKZF1 plus was removed., Discussion: Our findings demonstrated that Mexican patients with B-ALL have a higher prevalence of genetic markers associated with poor outcomes. Incorporating genomic methodologies into the diagnostic process, a significant unmet need in low- and mid-income countries, will allow a comprehensive identification of relevant alterations, improving disease classification, treatment selection, and the general outcome., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The reviewer, AM, declared a shared affiliation with the author RE-E to the handling editor at the time of review., (Copyright © 2024 Garcia-Solorio, Núñez-Enriquez, Jiménez-Olivares, Flores-Lujano, Flores-Espino, Molina-Garay, Cervera, Casique-Aguirre, Peñaloza-Gonzalez, Baños-Lara, García-Soto, Galván-Díaz, Olaya-Vargas, Aguilar, Mata-Rocha, Garrido-Hernández, Solís-Poblano, Luna-Silva, Cano-Cuapio, Aristil-Chery, Herrera-Quezada, Carrillo-Sanchez, Muñoz-Rivas, Flores-Lagunes, Mendoza-Caamal, Villegas-Torres, González-Osnaya, Jiménez-Hernández, Torres-Nava, Martín-Trejo, Gutiérrez-Rivera, Espinosa-Elizondo, Merino-Pasaye, Pérez-Saldívar, Jiménez-Morales, Curiel-Quesada, Rosas-Vargas, Mejía-Arangure and Alaez-Verson.)

Published
2024
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37. A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes.

Author

Mercader JM, Liao RG, Bell AD, Dymek Z, Estrada K, Tukiainen T, Huerta-Chagoya A, Moreno-Macías H, Jablonski KA, Hanson RL, Walford GA, Moran I, Chen L, Agarwala V, Ordoñez-Sánchez ML, Rodríguez-Guillen R, Rodríguez-Torres M, Segura-Kato Y, García-Ortiz H, Centeno-Cruz F, Barajas-Olmos F, Caulkins L, Puppala S, Fontanillas P, Williams AL, Bonàs-Guarch S, Hartl C, Ripke S, Tooley K, Lane J, Zerrweck C, Martínez-Hernández A, Córdova EJ, Mendoza-Caamal E, Contreras-Cubas C, González-Villalpando ME, Cruz-Bautista I, Muñoz-Hernández L, Gómez-Velasco D, Alvirde U, Henderson BE, Wilkens LR, Le Marchand L, Arellano-Campos O, Riba L, Harden M, Gabriel S, Abboud HE, Cortes ML, Revilla-Monsalve C, Islas-Andrade S, Soberon X, Curran JE, Jenkinson CP, DeFronzo RA, Lehman DM, Hanis CL, Bell GI, Boehnke M, Blangero J, Duggirala R, Saxena R, MacArthur D, Ferrer J, McCarroll SA, Torrents D, Knowler WC, Baier LJ, Burtt N, González-Villalpando C, Haiman CA, Aguilar-Salinas CA, Tusié-Luna T, Flannick J, Jacobs SBR, Orozco L, Altshuler D, and Florez JC

Subjects
Adipose Tissue, Cell Line, Gene Expression Regulation physiology, Genetic Variation, Genotype, Humans, Insulin-Like Growth Factor II genetics, Liver, Mexican Americans genetics, Mexico, Protein Isoforms, Stem Cells, White People, Diabetes Mellitus, Type 2 genetics, Insulin-Like Growth Factor II metabolism, RNA Splice Sites genetics
Abstract

Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the health care system continue to rise. To identify common or rare genetic variation with potential therapeutic implications for T2D, we analyzed and replicated genome-wide protein coding variation in a total of 8,227 individuals with T2D and 12,966 individuals without T2D of Latino descent. We identified a novel genetic variant in the IGF2 gene associated with ∼20% reduced risk for T2D. This variant, which has an allele frequency of 17% in the Mexican population but is rare in Europe, prevents splicing between IGF2 exons 1 and 2. We show in vitro and in human liver and adipose tissue that the variant is associated with a specific, allele-dosage-dependent reduction in the expression of IGF2 isoform 2. In individuals who do not carry the protective allele, expression of IGF2 isoform 2 in adipose is positively correlated with both incidence of T2D and increased plasma glycated hemoglobin in individuals without T2D, providing support that the protective effects are mediated by reductions in IGF2 isoform 2. Broad phenotypic examination of carriers of the protective variant revealed no association with other disease states or impaired reproductive health. These findings suggest that reducing IGF2 isoform 2 expression in relevant tissues has potential as a new therapeutic strategy for T2D, even beyond the Latin American population, with no major adverse effects on health or reproduction., (© 2017 by the American Diabetes Association.)

Published
2017
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38. [Birth defects associated with increased nuchal translucency].

Author

Mendoza-Caamal EC, Grether-González P, Hernández-Gómez M, Guzmán-Huerta M, and Aguinaga-Ríos M

Subjects
Chorionic Villi Sampling, Chromosome Disorders embryology, Chromosome Disorders genetics, Congenital Abnormalities embryology, Congenital Abnormalities genetics, Female, Heart Defects, Congenital diagnostic imaging, Heart Defects, Congenital embryology, Humans, Infant, Newborn, Karyotyping, Predictive Value of Tests, Pregnancy, Pregnancy Outcome, Pregnancy Trimester, Second, Chromosome Disorders diagnostic imaging, Congenital Abnormalities diagnostic imaging, Fetus abnormalities, Nuchal Translucency Measurement
Abstract

Background: Nuchal translucency is widely used to screen for trisomy 21 in the first trimester of pregnancy. It has also been associated with other chromosomal abnormalities, genetic syndromes and congenital defects., Objective: To evaluate the perinatal outcome of patients who showed nuchal translucency greater or equal to 95th percentile during the first trimester ultrasound screening, which underwent fetal karyotype., Material and Method: Case series. Fetuses with nuchal translucency greater or equal to 95th percentile were evaluated by fetal karyotype, second-trimester structural ultrasound scan, fetal echocardiography and postnatal clinical genetic evaluation, attended in the servicio de Genética of the Instituto Nacional de Perinatología Isidro Espinosa de los Reyes., Results: 48 fetuses were evaluated. The karyotype was normal in 39 (81%) and abnormal in 9 (19%) cases of which three had trisomy 21, three monosomy X, two trisomy 18 and one 47,XYY In the cases with normal karyotype, 13 (33%) showed an abnormal second trimester ultrasound scan; among them, 12 had major congenital defects, 5 of them had abnormal cardiac findings that were confirmed by fetal echocardiography. In the group of 26 fetuses with normal karyotype and ultrasound, only 2 patients had minor birth defects., Conclusions: Increased fetal nuchal translucency is frequently associated with chromosomal abnormalities and several congenital defects, mostly heart defects and genetic syndromes. Our findings are in accordance with other published reports where a complete follow-up of all patients with increased nuchal translucency is recommended even if they have a normal karyotype, due to the increased risk of having other congenital defects or syndromic entities.

Published
2010

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