Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women’s Health Initiative SHARe Study

Edwards, Digna R. Velez; Naj, Adam C.; Monda, Keri L.; North, Kari E.; Neuhouser, Marian L.; Magvanjav, Oyunbileg; Kusimo, Ibukun; Vitolins, Mara Z.; Manson, JoAnn E.; OʼSullivan, Mary J.; Rampersaud, Evadnie; Edwards, Todd L.

doi:10.1007/s00439-012-1246-3

Cited by 42 publications

(36 citation statements)

References 65 publications

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“…A genetic marker near Cntnap2 would be associated with profoundly different effects on body weight in a segregating cross and would therefore appear to have no consistent effect. For this reason, it is striking that a GWAS study for obesity-related traits in humans identified a SNP (rs4549702) in CNTNAP2 that was associated with increased body weight in an AfricanAmerican population but decreased body weight in a Hispanic population (Velez Edwards et al 2012). Had the populations not been stratified, the effect of this SNP may have been overlooked.…”

Section: Epistasismentioning

confidence: 99%

Contrasting genetic architectures in different mouse reference populations used for studying complex traits

Buchner

Nadeau

2015

Genome Res.

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Quantitative trait loci (QTLs) are being used to study genetic networks, protein functions, and systems properties that underlie phenotypic variation and disease risk in humans, model organisms, agricultural species, and natural populations. The challenges are many, beginning with the seemingly simple tasks of mapping QTLs and identifying their underlying genetic determinants. Various specialized resources have been developed to study complex traits in many model organisms. In the mouse, remarkably different pictures of genetic architectures are emerging. Chromosome Substitution Strains (CSSs) reveal many QTLs, large phenotypic effects, pervasive epistasis, and readily identified genetic variants. In contrast, other resources as well as genome-wide association studies (GWAS) in humans and other species reveal genetic architectures dominated with a relatively modest number of QTLs that have small individual and combined phenotypic effects. These contrasting architectures are the result of intrinsic differences in the study designs underlying different resources. The CSSs examine contextdependent phenotypic effects independently among individual genotypes, whereas with GWAS and other mouse resources, the average effect of each QTL is assessed among many individuals with heterogeneous genetic backgrounds. We argue that variation of genetic architectures among individuals is as important as population averages. Each of these important resources has particular merits and specific applications for these individual and population perspectives. Collectively, these resources together with high-throughput genotyping, sequencing and genetic engineering technologies, and information repositories highlight the power of the mouse for genetic, functional, and systems studies of complex traits and disease models.

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Section: Epistasismentioning

confidence: 99%

Contrasting genetic architectures in different mouse reference populations used for studying complex traits

Buchner

Nadeau

2015

Genome Res.

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“…Vélez y colaboradores (23) señalaron que existen diferencias étnicas en las interacciones de genes implicados en procesos metabólicos y corporales que modifican el impacto de las exposiciones ambientales; no obstante, aclaran que es necesario realizar estudios que lo verifiquen. Observamos que el sobrepeso y la obesidad se asociaron a peor CV comparados con el IMC normal, tal como previamente se halló en una gran cohorte de colombianas (3) .…”

Section: Discussionunclassified

“…Las preguntas se agrupan en cuatro dominios: menopausia/salud (incluye tres subdominios: síntomas vasomotores, salud y envejecimiento), psíquico, sexualidad y relación de pareja. Cada pregunta es tipo Likert: 0 [no presente], 1-2-3-4 [intermedios] y 5 [mucho], siendo de mejor a peor en las preguntas negativas [1, 2,3,5,6,7,9,10,11,12,14,16,17,18,19,21,23,24,25,27,28,29, 31] y lo contrario en las positivas [4,8,13,15,20,22,26,30]. Las sumas crean el puntaje de los dominios y entre estos el global, que va de 0 a 155.…”

Section: Cavimec [Calidad De Vida En La Menopausia Yunclassified

Evaluación de la calidad de vida en climatéricas con la Escala Cervantes. Influencia de la etnia

Mercado-Lara

Monterrosa-Castro

Durán-Méndez

2018

Rev peru ginecol obstet.

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Introducción. La calidad de vida y la severidad de los síntomas de la menopausia varían entre distintos grupos poblacionales. Objetivo. Comparar la calidad de vida de climatéricas colombianas pertenecientes a dos grupos étnicos, hispánicas y afrodescendientes, utilizando la Escala Cervantes. Metodología. Estudio transversal que hace parte del proyecto de investigación CAVIMEC [Calidad de Vida en la Menopausia y Etnias Colombianas], realizado con un formulario de características sociodemográficas y la Escala Cervantes, en mujeres de 40 a 59 años de edad, residentes en poblaciones del Caribe y Pacífico colombiano. Valoración puerta a puerta por encuestadoras, investigación sin riesgos y aprobada por el comité de ética. Para el análisis de datos se utilizó Epi-Info 7. Se realizó regresión logística no ajustada y las comparaciones fueron estadísticamente significativas si p<0,05. Resultados. Se estudió 1 894 mujeres, 34,1% afrodescendientes y 65,9% hispánicas, edad 48,7±5,7 y 48,2±5,8, respectivamente. Las hispánicas tuvieron mayor deterioro psíquico, sexual, de relación de pareja y envejecimiento; en cambio presentaron menos síntomas vasomotores que las afrodescendientes, p<0,05. El puntaje de Escala Cervantes fue 39,2±22,6 en afrodescendientes y 43,7±25,0 en hispánicas, p<0,001. Ser hispánica se asoció a 43% mayor deterioro de la calidad de vida con respecto a afrodescendientes y fue factor asociado a ‘mayor severidad’ en tres dominios: menopausia/salud OR: 1,40 [IC95%: 1,05 a 1,85], sexualidad OR: 1,46 [IC95%: 1,19 a 1,80] y relación de pareja OR: 1,36 [IC95%: 1,10 a 1,69]. Conclusión. Existieron diferencias significativas en el deterioro de la calidad de vida en las mujeres climatéricas hispánicas yafrodescendientes estudiadas.

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“…In addition to unidentifi ed rare variants ( 28 ), genetic interactions, both gene-by-gene between loci and GxE have been proposed to explain some of this missing heritability ( 28 ). Recent examples of genes interacting with dietary intake have been identifi ed for obesity traits ( 29,30 ). Accordingly, in this study we have demonstrated a novel and replicated fi nding that common variants at APOB in males and females (rs2678379, P = 2.92 × 10 Ϫ 5 ) and NPC1L1 in males only (rs17725246, P = 2.20 × 10 Ϫ 3 ) demonstrate GxE interactions with dietary cholesterol intake in the prediction of total cholesterol.…”

Section: Discussionmentioning

confidence: 99%

Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol

Kim

Burt

Ranchalis

et al. 2013

Journal of Lipid Research

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This article is available online at http://www.jlr.org Supplementary key words dietary cholesterol • total cholesterol • cardiovascular disease • Niemann-Pick C1-like 1 Cardiovascular disease (CVD), including coronary heart disease and carotid artery disease (CAAD), is the leading cause of death in developed countries, accounting for approximately one-third of all deaths in adults over age 35 ( 1 ). One of the key risk factors for CVD is hypercholesterolemia ( 2 ), with epidemiologic studies demonstrating a graded relationship between total plasma cholesterol and CVD risk ( 3 ). Levels of total cholesterol and other lipids and lipoproteins are both heritable and targets for pharmacologic and lifestyle interventions ( 4 ). One of the primary methods of lifestyle intervention to alter lipid levels is through dietary changes, such as decreasing total fat intake ( 5, 6 ).Genome-wide association studies (GWASs) have implicated numerous genetic loci for association with total cholesterol levels. A recent meta-analysis by Teslovich et al. ( 7 ) of over 100,000 individuals of European ancestry confi rmed numerous previous GWAS fi ndings and identifi ed novel variants and loci for prediction of total lipid phenotypes, including total cholesterol levels.While genetic evidence is accumulating for many of these loci, less is known about the specifi c mechanisms through which these genetic variants affect cholesterol levels. We hypothesized that one pathway through which these genetic variants could alter cholesterol homeostasis is through differential absorption or processing of dietary Abstract Cardiovascular disease (CVD) is the leading cause of death in developed countries. Plasma cholesterol level is a key risk factor in CVD pathogenesis. Genetic and dietary variation both infl uence plasma cholesterol; however, little is known about dietary interactions with genetic variants infl uencing the absorption and transport of dietary cholesterol . We sought to determine whether gut expressed variants predicting plasma cholesterol differentially affected the relationship between dietary and plasma cholesterol levels in 1,128 subjects (772/356 in the discovery/replication cohorts, respectively). Four single nucleotide polymorphisms (SNPs) within three genes ( APOB , CETP , and NPC1L1 ) were signifi cantly associated with plasma cholesterol in the discovery cohort. These were subsequently evaluated for geneby-environment (GxE) interactions with dietary cholesterol for the prediction of plasma cholesterol, with signifi cant fi ndings tested for replication. Novel GxE interactions were identifi ed and replicated for two variants: rs1042034, an APOB Ser4338Asn missense SNP and rs2072183 (in males only), a synonymous NPC1L1 SNP in linkage disequilibrium with SNPs 5 ′ of NPC1L1 . This study identifi es the presence of novel GxE and gender interactions implying that differential gut absorption is the basis for the variant associations with plasma cholesterol. These GxE interactions may account for part of the "missing heritability" no...

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Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women’s Health Initiative SHARe Study

Cited by 42 publications

References 65 publications

Contrasting genetic architectures in different mouse reference populations used for studying complex traits

Contrasting genetic architectures in different mouse reference populations used for studying complex traits

Evaluación de la calidad de vida en climatéricas con la Escala Cervantes. Influencia de la etnia

Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol

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