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Article ; Online: Frequency and clinical association of NY-ESO-1 gene expression in diffuse large B-cell lymphoma

Irma Olarte-Carrillo / Christian O. Ramos-Peñafiel / Rafael Cerón-Maldonado / Gilberto I. Barranco-Lampon / Iveth Mendoza-Salas / Anel I. García-Laguna / Adrian De la Cruz-Rosas / Carlos Martínez-Murillo / Federico Centeno-Cruz / Adolfo Martínez-Tovar

Revista Médica del Hospital General de México, Vol 85, Iss

2022 Volume 4

Abstract: Objective: Our objective was to evaluate the frequency of expression and determine the expression levels of the NY-ESO-1 gene in patients with DLBCL as well as to examine its relationship with clinical parameters and survival. Methods: We analyzed NY-ESO- ...

Abstract	Objective: Our objective was to evaluate the frequency of expression and determine the expression levels of the NY-ESO-1 gene in patients with DLBCL as well as to examine its relationship with clinical parameters and survival. Methods: We analyzed NY-ESO-1 gene expression levels using real-time quantitative RT-PCR (RT-qPCR) in 112 patients with DLBCL. The associations between the expression of the NY-ESO-1 gene and the clinical variables were evaluated using the Chi-square test and Fisher’s exact test. Overall survival (OS) was determined using the Kaplan–Meier method. Result: The results showed that the NY-ESO-1 gene was expressed in 46.4% (52/112) of patients with DLBCL, and NY-ESO-1 gene expression was associated with clinical parameters such as LDH, clinical stage, and International Prognostic Index (IPI) (p ≤ 0.05). High levels of NY-ESO-1 gene expression were associated with advanced disease stages, and the survival rates after 5.3 years of tracking were lower in the patients expressing the NY-ESO-1 gene (66.4%) than in those not expressing the gene (23.1%). Conclusion: The expression levels of the NY-ESO-1 gene in patients with DLBCL may be of great utility for diagnosing and determining the prognosis of this disease.
Keywords	DLBCL. NY-ESO-1. Lymphoma ; Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2022-10-01T00:00:00Z
Publisher	Permanyer
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Knockdown of dystrophin Dp71 impairs PC12 cells cycle

Marcela Villarreal-Silva / Federico Centeno-Cruz / Rocío Suárez-Sánchez / Efraín Garrido / Bulmaro Cisneros

PLoS ONE, Vol 6, Iss 8, p e

localization in the spindle and cytokinesis structures implies a role for Dp71 in cell division.

2011 Volume 23504

Abstract: The function of dystrophin Dp71 in neuronal cells remains to be established. Previously, we revealed the involvement of this protein in both nerve growth factor (NGF)-induced neuronal differentiation and cell adhesion by isolation and characterization of ...

Abstract	The function of dystrophin Dp71 in neuronal cells remains to be established. Previously, we revealed the involvement of this protein in both nerve growth factor (NGF)-induced neuronal differentiation and cell adhesion by isolation and characterization of PC12 neuronal cells with depleted levels of Dp71. In this work, a novel phenotype of Dp71-knockdown cells was characterized, which is their delayed growth rate. Cell cycle analyses revealed an altered behavior of Dp71-depleted cells, which consists of a delay in G0/G1 transition and an increase in apoptosis during nocodazole-induced mitotic arrest. Dp71 associates with lamin B1 and β-dystroglycan, proteins involved in aspects of the cell division cycle; therefore, we compared the distribution of Dp71 with that of lamin B1 and β-dystroglycan in PC12 cells at mitosis and cytokinesis by means of immunofluorescence and confocal microscopy analysis. All of these three proteins exhibited a similar immunostaining pattern, localized at mitotic spindle, cleavage furrow, and midbody. It is noteworthy that a drastic decreased staining in mitotic spindle, cleavage furrow, and midbody was observed for both lamin B1 and β-dystroglycan in Dp71-depleted cells. Furthermore, we demonstrated the interaction of Dp71 with lamin B1 in PC12 cells by immunoprecipitation and pull-down assays, and importantly, we revealed that knockdown of Dp71 expression caused a marked reduction in lamin B1 levels and altered localization of the nuclear envelope protein emerin. Our data indicate that Dp71 is a component of the mitotic spindle and cytokinesis multi-protein apparatuses that might modulate the cell division cycle by affecting lamin B1 and β-dystroglycan levels.
Keywords	Medicine ; R ; Science ; Q
Subject code	571
Language	English
Publishing date	2011-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Altered DNA methylation in liver and adipose tissues derived from individuals with obesity and type 2 diabetes

Francisco Barajas-Olmos / Federico Centeno-Cruz / Carlos Zerrweck / Iván Imaz-Rosshandler / Angélica Martínez-Hernández / Emilio J. Cordova / Claudia Rangel-Escareño / Faustino Gálvez / Armando Castillo / Hernán Maydón / Francisco Campos / Diana Gabriela Maldonado-Pintado / Lorena Orozco

BMC Medical Genetics, Vol 19, Iss 1, Pp 1-

2018 Volume 8

Abstract: Abstract Background Obesity is a well-recognized risk factor for insulin resistance and type 2 diabetes (T2D), although the precise mechanisms underlying the relationship remain unknown. In this study we identified alterations of DNA methylation ... ...

Abstract	Abstract Background Obesity is a well-recognized risk factor for insulin resistance and type 2 diabetes (T2D), although the precise mechanisms underlying the relationship remain unknown. In this study we identified alterations of DNA methylation influencing T2D pathogenesis, in subcutaneous and visceral adipose tissues, liver, and blood from individuals with obesity. Methods The study included individuals with obesity, with and without T2D. From these patients, we obtained samples of liver tissue (n = 16), visceral and subcutaneous adipose tissues (n = 30), and peripheral blood (n = 38). We analyzed DNA methylation using Illumina Infinium Human Methylation arrays, and gene expression profiles using HumanHT-12 Expression BeadChip Arrays. Results Analysis of DNA methylation profiles revealed several loci with differential methylation between individuals with and without T2D, in all tissues. Aberrant DNA methylation was mainly found in the liver and visceral adipose tissue. Gene ontology analysis of genes with altered DNA methylation revealed enriched terms related to glucose metabolism, lipid metabolism, cell cycle regulation, and response to wounding. An inverse correlation between altered methylation and gene expression in the four tissues was found in a subset of genes, which were related to insulin resistance, adipogenesis, fat storage, and inflammation. Conclusions Our present findings provide additional evidence that aberrant DNA methylation may be a relevant mechanism involved in T2D pathogenesis among individuals with obesity.
Keywords	Type 2 diabetes ; DNA methylation ; Gene expression ; Adipose tissue ; and liver tissue ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
Subject code	570
Language	English
Publishing date	2018-02-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Genetic variability of five ADRB2 polymorphisms among Mexican Amerindian ethnicities and the Mestizo population.

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

PLoS ONE, Vol 14, Iss 12, p e

2019 Volume 0225030

Abstract: The Mexican population is characterized by high and particular admixture, and the picture of variants associated with disease remains unclear. Here we investigated the distribution of single nucleotide polymorphisms (SNPs) in the Mexican population. We ... ...

Abstract	The Mexican population is characterized by high and particular admixture, and the picture of variants associated with disease remains unclear. Here we investigated the distribution of single nucleotide polymorphisms (SNPs) in the Mexican population. We focused on two non-synonymous and three synonymous SNPs in the beta-2 adrenergic receptor gene (ADRB2), which plays key roles in energy balance regulation. These SNPs were genotyped in 2,011 Mexican Amerindians (MAs) belonging to 62 ethnic groups and in 1,980 geographically matched Mexican Mestizos (MEZs). The frequency distribution of all five ADRB2 variants significantly differed between MAs, MEZs, and other continental populations (CPs) from the 1000 Genomes database. Allele frequencies of the three synonymous SNPs rs1042717A, rs1042718A, and rs1042719C were significantly higher in Mexican individuals, particularly among MAs, compared to in the other analyzed populations (P<0.05). The non-synonymous ADRB2 Glu27 allele (rs1042714G), which is associated with several common conditions, showed the lowest frequency in MAs (0.03) compared to other populations worldwide. Among MEZs, this allele showed a frequency of 0.15, intermediate between that in MAs and in Iberians (0.43). Moreover, Glu27 was the only SNP exhibiting a geographic gradient within the MEZ population (from 0.22 to 0.11), reflecting admixed mestizo ancestry across the country. Population differentiation analysis demonstrated that Glu27 had the highest FST value in MAs compared with Europeans (CEU) (0.71), and the lowest between MAs and Japanese (JPT) (0.01), even lower than that observed between MAs and MEZs (0.08). This analysis demonstrated the genetic diversity among Amerindian ethnicities, with the most extreme FST value (0.34) found between the Nahuatls from Morelos and the Seris. This is the first study of ADRB2 genetic variants among MA ethnicities. Our findings add to our understanding of the genetic contribution to variability in disease susceptibility in admixed populations.
Keywords	Medicine ; R ; Science ; Q
Subject code	590
Language	English
Publishing date	2019-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Metabolic syndrome in indigenous communities in Mexico

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

BMC Public Health, Vol 20, Iss 1, Pp 1-

a descriptive and cross-sectional study

2020 Volume 8

Abstract: Abstract Background An Amerindian genetic background could play an important role in susceptibility to metabolic diseases, which have alarmingly increased in recent decades. Mexico has one of the highest prevalences of metabolic disease worldwide. The ... ...

Abstract	Abstract Background An Amerindian genetic background could play an important role in susceptibility to metabolic diseases, which have alarmingly increased in recent decades. Mexico has one of the highest prevalences of metabolic disease worldwide. The purpose of this study was to determine the prevalence of metabolic syndrome and its components in a population with high Amerindian ancestry. Methods We performed a descriptive, quantitative, and analytical cross-sectional study of 2596 adult indigenous volunteers from 60 different ethnic groups. Metabolic syndrome and its components were evaluated using the American Heart Association/National Heart, Lung, and Blood Institute Scientific Statement criteria. Results The overall prevalence of metabolic syndrome in the indigenous Mexican population was 50.3%. Although females had a higher prevalence than males (55.6% vs. 38.2%), the males presented with combinations of metabolic syndrome components that confer a higher risk of cardiovascular disease. The most frequent metabolic syndrome component in both genders was low HDL-cholesterol levels (75.8%). Central obesity was the second most frequent component in females (61%), though it had a low prevalence in males (16.5%). The overall prevalence of elevated blood pressure was 42.7% and was higher in males than females (48.8 vs. 40%). We found no gender differences in the overall prevalence of elevated triglycerides (56.7%) or fasting glucose (27.9%). Conclusions We documented that individuals with Amerindian ancestry have a high prevalence of metabolic syndrome. Health policies are needed to control the development of metabolic disorders in a population with high genetic risk.
Keywords	Mexican Amerindian ; Indigenous ; Metabolic syndrome ; Prevalence ; HDL-cholesterol ; Waist circumference ; Public aspects of medicine ; RA1-1270
Subject code	610
Language	English
Publishing date	2020-03-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Gene variants in AKT1, GCKR and SOCS3 are differentially associated with metabolic traits in Mexican Amerindians and Mestizos

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

Gene. 2018,

2018

Abstract: Amerindian ancestry appears to be a risk factor for metabolic diseases (MetD), making Mexicans an ideal population to better understand the genetic architecture of metabolic health. In this study, we determine the association of genetic variants ... ...

Abstract	Amerindian ancestry appears to be a risk factor for metabolic diseases (MetD), making Mexicans an ideal population to better understand the genetic architecture of metabolic health. In this study, we determine the association of genetic variants previously reported with metabolic entities, in two Mexican populations, including the largest sample of Amerindians reported to date.We investigated the association of eighth single-nucleotide polymorphisms (SNPs) in AKT1, GCKR, and SOCS3 genes with different metabolic traits in 1923 Mexican Amerindians (MAs) belonging to 57 ethnic groups, and 855 Mestizos (MEZs). The allele frequency of 7/8 SNPs showed significant differences between MAs and MEZs. Interestingly, some alleles were monomorphic in particular ethnic groups, and highly frequent in other ones. With the exception of GCKR rs1260326T, as expected, all SNP frequencies in the MEZ population had intermediate values between its two main ancestral populations (MAs and Iberian populations in Spain [IBS]). We detected ethnic differences in linkage disequilibrium patterns and haplotype structure between MAs and MEZs, possibly due to the high genetic heterogeneity in these populations. Remarkably, AKT1 was associated with hypertension in MEZs, but not in MAs. GCKR was associated with protection against type 2 diabetes (T2D) in MAs, and with hypertriglyceridemia and protection against low HDL Cholesterol (HDL-C) levels in MEZs. The CAT haplotype in SOCS3 was associated with metabolic syndrome (MetS) in MEZs, and correlated with protection against high blood pressure (HBP) and risk for high waist circumference and T2D in MAs. Our results show differential genetic associations with metabolic traits between MAs and MEZs, possibly due to the differences in genetic structure between these Mexican populations.
Keywords	alleles ; American Indians ; ancestry ; ethnic differences ; genetic heterogeneity ; haplotypes ; high density lipoprotein cholesterol ; hypertension ; hypertriglyceridemia ; linkage disequilibrium ; metabolic syndrome ; Mexicans ; noninsulin-dependent diabetes mellitus ; risk factors ; single nucleotide polymorphism ; waist circumference ; Spain
Language	English
Size	p. .
Publishing place	Elsevier B.V.
Document type	Article
Note	Pre-press version
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2018.08.076
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: The genomic landscape of Mexican Indigenous populations brings insights into the peopling of the Americas

Humberto García-Ortiz / Francisco Barajas-Olmos / Cecilia Contreras-Cubas / Miguel Ángel Cid-Soto / Emilio J. Córdova / Federico Centeno-Cruz / Elvia Mendoza-Caamal / Isabel Cicerón-Arellano / Marlen Flores-Huacuja / Paulina Baca / Deborah A. Bolnick / Meradeth Snow / Silvia Esperanza Flores-Martínez / Rocio Ortiz-Lopez / Austin W. Reynolds / Antonio Blanchet / Mirna Morales-Marín / Rafael Velázquez-Cruz / Aleksandar David Kostic /

Carlos Galaviz-Hernández / Alejandra Guadalupe García-Zapién / José Concepción Jiménez-López / Guadalupe León-Reyes / Eva Gabriela Salas-Bautista / Blanca Patricia Lazalde-Ramos / Juan Luis Jiménez-Ruíz / Guadalupe Salas-Martínez / Jazmín Ramos-Madrigal / Elaheh Mirzaeicheshmeh / Yolanda Saldaña-Alvarez / María del Carmen Abrahantes-Pérez / Francisco Loeza-Becerra / Raúl Mojica-Espinosa / Federico Sánchez-Quinto / Héctor Rangel-Villalobos / Martha Sosa-Macías / José Sánchez-Corona / Augusto Rojas-Martinez / Angélica Martínez-Hernández / Lorena Orozco

Nature Communications, Vol 12, Iss 1, Pp 1-

2021 Volume 12

Abstract: Indigenous populations, including in those in Mexico are underrepresented in genetic studies. Here, the authors perform a population genetics study of indigenous peoples in Mexico to explore demographic histories of the region in the context of geography ...

Abstract	Indigenous populations, including in those in Mexico are underrepresented in genetic studies. Here, the authors perform a population genetics study of indigenous peoples in Mexico to explore demographic histories of the region in the context of geography and cultural influences.
Keywords	Science ; Q
Language	English
Publishing date	2021-10-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Heterogenous Distribution of MTHFR Gene Variants among Mestizos and Diverse Amerindian Groups from Mexico.

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

PLoS ONE, Vol 11, Iss 9, p e

2016 Volume 0163248

Abstract: Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases. Hence, MTHFR genetic variants have been studied ... ...

Abstract	Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Folate deficiency has been related to several conditions, including neural tube defects (NTDs) and cardiovascular diseases. Hence, MTHFR genetic variants have been studied worldwide, particularly the C677T and A1298C. We genotyped the C677T and A1298C MTHFR polymorphisms in Mexican Amerindians (MAs), from the largest sample included in a genetic study (n = 2026, from 62 ethnic groups), and in a geographically-matched Mexican Mestizo population (MEZ, n = 638). The 677T allele was most frequent in Mexican individuals, particularly in MAs. The frequency of this allele in both MAs and MEZs was clearly enriched in the South region of the country, followed by the Central East and South East regions. In contrast, the frequency of the 1298C risk allele in Mexicans was one of the lowest in the world. Both in MAs and MEZs the variants 677T and 1298C displayed opposite allele frequency gradients from southern to northern Mexico. Our findings suggest that in Mestizos the 677T allele was derived from Amerindians while the 1298C allele was a European contribution. Some subgroups showed an allele frequency distribution that highlighted their genetic diversity. Notably, the distribution of the frequency of the 677T allele was consistent with that of the high incidence of NTDs reported in MEZ.
Keywords	Medicine ; R ; Science ; Q
Subject code	590
Language	English
Publishing date	2016-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Rusu, Victor / Eitan Hoch / Josep M. Mercader / Danielle E. Tenen / Melissa Gymrek / Christina R. Hartigan / Michael DeRan / Marcin von Grotthuss / Pierre Fontanillas / Alexandra Spooner / Gaelen Guzman / Amy A. Deik / Kerry A. Pierce / Courtney Dennis / Clary B. Clish / Steven A. Carr / Bridget K. Wagner / Monica Schenone / Maggie C.Y. Ng /

Brian H. Chen / Federico Centeno-Cruz / Carlos Zerrweck / Lorena Orozco / David M. Altshuler / Stuart L. Schreiber / Jose C. Florez / Suzanne B.R. Jacobs / Eric S. Lander

Cell. 2017 June 29, v. 170

2017

Abstract: Type 2 diabetes (T2D) affects Latinos at twice theÂ rateÂ seen in populations of European descent. WeÂ recently identified a risk haplotype spanning SLC16A11 that explains â¼20% of the increased T2D prevalence in Mexico. Here, through genetic fine- ... ...

Abstract	Type 2 diabetes (T2D) affects Latinos at twice theÂ rateÂ seen in populations of European descent. WeÂ recently identified a risk haplotype spanning SLC16A11 that explains â¼20% 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 atÂ 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.[Display omitted]
Keywords	Latinos ; alleles ; fatty acids ; haplotypes ; lipid metabolism ; liver ; loci ; noninsulin-dependent diabetes mellitus ; risk ; Mexico
Language	English
Dates of publication	2017-0629
Size	p. 199-212.e20.
Publishing place	Elsevier Inc.
Document type	Article
ZDB-ID	187009-9
ISSN	1097-4172 ; 0092-8674
ISSN (online)	1097-4172
ISSN	0092-8674
DOI	10.1016/j.cell.2017.06.011
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Julia K. Goodrich / Moriel Singer-Berk / Rachel Son / Abigail Sveden / Jordan Wood / Eleina England / Joanne B. Cole / Ben Weisburd / Nick Watts / Lizz Caulkins / Peter Dornbos / Ryan Koesterer / Zachary Zappala / Haichen Zhang / Kristin A. Maloney / Andy Dahl / Carlos A. Aguilar-Salinas / Gil Atzmon / Francisco Barajas-Olmos /

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

Nature Communications, Vol 12, Iss 1, Pp 1-

2021 Volume 15

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

Abstract	Penetrance of variants in monogenic disease and clinical utility of common polygenic variation has not been well explored on a large-scale. Here, the authors use exome sequencing data from 77,184 individuals to generate penetrance estimates and assess the utility of polygenic variation in risk prediction of monogenic variants.
Keywords	Science ; Q
Language	English
Publishing date	2021-06-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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