RESUMEN
OBJECTIVE: To systematically review the literature regarding the concordance of sleep bruxism (SB) between monozygotic (MZ) and dizygotic (DZ) twins. METHODS: The registration for this systematic review was accomplished in the International Prospective Register of Systematic Reviews (PROSPERO, No. CRD42021251751). As of July 2022, four databases were searched, including PubMed, Scopus, Embase, and Web of Science, as well as the grey literature in Google Scholar and OpenGrey. Observational studies evaluating SB in MZ and DZ twins of any age and sex were included. For the evaluation of the risk of bias, the Joanna Briggs checklist was utilized. The certainty of evidence was assessed via the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. Pooled and subgroup meta-analyses were performed to estimate concordance of SB ââbetween twins (p < 0.05). RESULTS: In total, 3,155 records were identified. In the qualitative analysis, eleven studies were included; of these, seven were included in the meta-analysis. The majority of the articles exhibited a low risk of bias (63.6%). Greater SB concordance was observed between MZ twins than between DZ twins in the analysis of general concordance (OR = 1.47; 95% CI = 1.07-2.02) and also positive concordance (OR = 1.53; 95% CI = 1.29-1.81). Within the subgroup analyses, the significance of the findings remained only for the reported/self-reported SB regarding general concordance (OR = 1.44; 95% CI = 1.07-1.95) and positive concordance (OR = 1.55; 95% CI = 1.28-1.88). Low certainty of the evidence was observed for the general concordance analysis, while moderate certainty was observed for the positive concordance. CONCLUSION: There was a higher concordance of SB in MZ twins compared to DZ twins, indicating a possible genetic influence on the condition's occurrence.
Asunto(s)
Bruxismo del Sueño , Gemelos Dicigóticos , Gemelos Monocigóticos , Humanos , Enfermedades en Gemelos/genética , Bruxismo del Sueño/genética , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genéticaRESUMEN
TwinsMX registry is a national research initiative in Mexico that aims to understand the complex interplay between genetics and environment in shaping physical and mental health traits among the country's population. With a multidisciplinary approach, TwinsMX aims to advance our knowledge of the genetic and environmental mechanisms underlying ethnic variations in complex traits and diseases, including behavioral, psychometric, anthropometric, metabolic, cardiovascular and mental disorders. With information gathered from over 2800 twins, this article updates the prevalence of several complex traits; and describes the advances and novel ideas we have implemented such as magnetic resonance imaging. The future expansion of the TwinsMX registry will enhance our comprehension of the intricate interplay between genetics and environment in shaping health and disease in the Mexican population. Overall, this report describes the progress in the building of a solid database that will allow the study of complex traits in the Mexican population, valuable not only for our consortium, but also for the worldwide scientific community, by providing new insights of understudied genetically admixed populations.
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Interacción Gen-Ambiente , Sistema de Registros , Humanos , México/epidemiología , Masculino , Femenino , Adulto , Enfermedades en Gemelos/genética , Enfermedades en Gemelos/epidemiología , Persona de Mediana Edad , Gemelos Monocigóticos/genética , Gemelos Dicigóticos/genética , Trastornos Mentales/genética , Trastornos Mentales/epidemiología , Enfermedades Cardiovasculares/genética , Enfermedades Cardiovasculares/epidemiologíaRESUMEN
This article begins with an overview of twin research in Brazil, initiated by the University of São Paulo Panel of Twins. I met with many new research collaborators and students while on a fall 2023 four-city lecture tour in that country. A meeting with a world-famous surgeon who recently separated craniopagus conjoined twin pairs is also described. This overview is followed by summaries of twin research on binge eating, twins' physical outcomes linked to different diets, working conditions and sickness absence in Swedish Twins and facial morphology differences in monozygotic twins. The final section of this article provides a sampling of human interest stories with important implications. They include a Michigan family forced to adopt their own twins, ethical issues surrounding the hiring of a surrogate to bear twins; twin survivors of the Israel-Hamas war, a twin pregnancy with a double uterus, and three twin pairs on the same women's soccer team.
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Gemelos Monocigóticos , Humanos , Femenino , Gemelos Monocigóticos/genética , Brasil/epidemiología , Embarazo , Suecia/epidemiología , Estudios en Gemelos como Asunto , Enfermedades en Gemelos/genética , Enfermedades en Gemelos/epidemiología , Michigan/epidemiología , Universidades , Condiciones de Trabajo , Anomalías de la Duplicación UterinaRESUMEN
AIM: This study reports the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins subsequently diagnosed with Wilms tumour (WAGR syndrome). METHODS: Two monozygotic female twins were referred at age 2 months with bilateral corneal opacity. A diagnosis of Peters' anomaly associated to aniridia was made in both eyes of both twins. Physical examination and ultrasonography were carried out at 12 months of age to explore the possibility of WAGR-related anomalies, specifically Wilms tumour. DNA were isolated and subjected to whole exome sequencing. RESULTS: Peters' anomaly associated to aniridia in both eyes as well as bilateral Wilms tumour in both children were diagnosed. Exome analyses showed a large heterozygous deletion encompassing 6 648 473 bp in chromosome 11p13, using Integrative Genomics Viewer and AnnotSV software. CONCLUSION: WAGR syndrome is a rare contiguous gene deletion syndrome with a greater risk of developing Wilms tumour associated with Peters' anomaly and congenital aniridia. However, co-occurrence of both anomalies was rarely reported in twins, and never in both eyes of monozygotic twins. Here, we report the bilateral association of Peters' anomaly and congenital aniridia in monozygotic twins with WAGR syndrome.
Asunto(s)
Aniridia , Opacidad de la Córnea , Gemelos Monocigóticos , Síndrome WAGR , Tumor de Wilms , Humanos , Femenino , Gemelos Monocigóticos/genética , Síndrome WAGR/genética , Aniridia/genética , Aniridia/complicaciones , Tumor de Wilms/genética , Tumor de Wilms/complicaciones , Lactante , Opacidad de la Córnea/genética , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/diagnóstico por imagen , Anomalías del Ojo/genética , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/complicaciones , Enfermedades en Gemelos/genética , Neoplasias Renales/genética , Neoplasias Renales/diagnóstico por imagen , Neoplasias Renales/complicacionesRESUMEN
BACKGROUND: Facial aging is a complex process, which, beyond a genetic predisposition, involves both physical and environmental factors. Even identical twins with the same genetic load may differ substantially in facial wrinkles and aging, demanding a personalized treatment approach. OBJECTIVE: To demonstrate the ONE21 technique as an excellent tool to a customized assessment and IncobotulinuntoxinA treatment to address phenotype discordances and epigenetic drifts in identical twins, expressed by different patterns of upper face muscle contractions and wrinkles intensity. PATIENTS/METHODS: Five pairs of identical Caucasian twin sisters, from 30 to 45 years of age, were evaluated for hyperfunctional upper facial wrinkles (forehead, glabella, and periorbital), assessing the individual anatomy, muscle function and habitual facial movements of each patient. All the subjects were treated with the ONE21 technique using IncobotulinumtoxinA and reevaluated 30 days after the procedure. RESULTS: Though the clinical-anatomical pattern of the forehead contraction was similar between the pairs, the strength of the muscles, the number and depth of wrinkles differed. This varied presentation demanded distinct points of distribution and dosages of incobotulinumtoxinA for all the twins, according to the ONE21 approach. The results 30 days after treatment were satisfactory in all the subjects. CONCLUSION: The ONE21 technique allows an objective and careful evaluation of the wrinkles of the upper face, based on an individualized assessment, which may vary even in identical twins.
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Toxinas Botulínicas Tipo A , Fármacos Neuromusculares , Envejecimiento de la Piel , Músculos Faciales , Humanos , Envejecimiento de la Piel/genética , Gemelos Monocigóticos/genéticaAsunto(s)
Anemia/genética , Eliptocitosis Hereditaria/genética , Glucosafosfato Deshidrogenasa/genética , Mutación , Piruvato Quinasa/genética , Anemia/diagnóstico , República Dominicana , Salud de la Familia , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento/métodos , Humanos , Recién Nacido , Patrón de Herencia/genética , Masculino , Enfermedades Raras/diagnóstico , Enfermedades Raras/genética , Gemelos Monocigóticos/genéticaRESUMEN
Background: Paroxysmal movement disorders are a heterogeneous group of neurological diseases, better understood in recent years thanks to widely available genetic testing. Case report: A pair of monozygotic twins with dystonia and paroxysmal attacks, resembling paroxysmal non-kinesigenic dyskinesias, due to a novel ATP1A3 variant are reported. The complete resolution of their paroxysms was achieved using levodopa and deep brain stimulation of the internal globus pallidus. Improvement of interictal dystonia was also achieved with this therapy. Discussion: Paroxysmal worsening of movement disorders should be suspected as part of the ATP1A3 spectrum. Treatment outcome might be predicted based on the phenotype.
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Trastornos Distónicos/diagnóstico , Trastornos Distónicos/genética , Variación Genética/genética , ATPasa Intercambiadora de Sodio-Potasio/genética , Gemelos Monocigóticos/genética , Trastornos Distónicos/fisiopatología , Electroencefalografía/métodos , Humanos , Masculino , Adulto JovenRESUMEN
Despite the well-known relevance of twin studies in the medical and social sciences and the growing number of twin registries throughout the world, Latin America has not fully incorporated into the twin research community. We describe the first steps taken toward developing a twin registry in Mexico: its aim, organization, recruiting potential and main short-term objectives.
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Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Sistema de Registros/estadística & datos numéricos , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , México/epidemiología , Padres , Selección de Paciente , Encuestas y CuestionariosRESUMEN
The University of São Paulo Twin Panel (Painel USP de Gêmeos), based at the Institute of Psychology of the University of São Paulo, started formally in 2017. Our registry is new, but in only two years of formal existence, it comprises a volunteer sample of 4826 registered individuals (98% twins and 2% higher-order multiples), recruited at the University of São Paulo and by social media campaigns. Our main aim is to conduct and promote research with twins on psychological processes and behavior. The University of São Paulo is the largest higher education and research institution in South America, and the Painel USP de Gêmeos has great potential for fostering research on twin-related issues from a psychological perspective in Brazil and South America.
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Investigación Conductal , Enfermedades en Gemelos/psicología , Sistema de Registros/estadística & datos numéricos , Proyectos de Investigación/normas , Gemelos Dicigóticos/estadística & datos numéricos , Gemelos Monocigóticos/estadística & datos numéricos , Adolescente , Adulto , Brasil/epidemiología , Niño , Preescolar , Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Persona de Mediana Edad , Participación del Paciente , Selección de Paciente , Gemelos Dicigóticos/genética , Gemelos Dicigóticos/psicología , Gemelos Monocigóticos/genética , Gemelos Monocigóticos/psicología , Adulto JovenRESUMEN
TwinsMX is a national twin registry in Mexico recently created with institutional support from the Universidad Nacional Autónoma de México. It aims to serve as a platform to advance epidemiological and genetic research in the country and to disentangle the genetic and environmental contributions to health and disease in the admixed Mexican population. Here, we describe our recruitment and data collection strategies and discuss both the progress to date and future directions. More information about the registry is available on our website: https://twinsmxofficial.unam.mx/ (content in Spanish).
Asunto(s)
Enfermedades en Gemelos/epidemiología , Enfermedades en Gemelos/genética , Interacción Gen-Ambiente , Sistema de Registros/estadística & datos numéricos , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adolescente , Adulto , Femenino , Estudios de Seguimiento , Humanos , Masculino , México/epidemiología , Persona de Mediana Edad , Selección de Paciente , Adulto JovenRESUMEN
Objetivo: Analisar as características datiloscópicas entre pares de gêmeos monozigóticos (GM), observando coincidências e divergências entre os irmãos e avaliando o potencial identifi-catório dos relevos dérmicos digitais para individualização dos mesmos. Material e Métodos: Estudo cego e transversal, quanti-tativo, de abordagem indutiva e observação direta extensiva. As impressões digitais foram analisadas e classificadas em tipos fundamentais (arco, presilha interna, presilha externa, verticilo e anômalo) e acidentais (anômalo, cicatriz e amputação) e, posteriormente, assinalados os pontos característicos. Resulta-dos: Foram coletadas 46 fichas datiloscópicas, oriundas de 23 pares de GM, sendo 14 duplas pertencentes ao sexo feminino e 9 ao masculino, com idades entre 18 e 28 anos. Os dedos que apresentaram maior concordância entre os pares de GM foram os polegares, direito e esquerdo, e o anular direito, com 82,5%. Na mão direita, o padrão mais observado foi presilha externa, enquanto no membro esquerdo o tipo prevalente foi presilha interna. Conclusão: As estruturas que compõem as impressões digitais, apesar de muito semelhantes, são capazes de individualizar GM pela existência de pontos característicos individuais, auxiliando no processo de identificação humana. (AU)
Objective: To analyze dactyloscopy characteristics between MT pairs, observing coincidences and divergences between the siblings and evaluating the identification potential of the finger-prints for their individualization. Material and Methods: Blind and cross-secional, quantitative study with inductive approach and extensive direct observation. The fingerprints were analyzed and classified into patternal types (arch, internal clip, external clip, verticil and anomalous) and accidental (anomalous, scar and amputation) and, later, the characteristic points were pointed out. Results: 46 fingerprint records were collected from 23 MT pairs, of those 14 were female pairs and 9 male, with ages between 18 to 28 years. The fingers that showed the highest agreement among the MT pairs were the right and left thumbs, and the right ring finger with 82.5%. The right hand showed the external clip as the most frequent pattern, while the left hand the prevalent type was internal clip. Conclusion: The fingerprints' components, although very similar, are able to individualize MT by the existence of individual characteristic points, supporting the process of human identification. (AU)
Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Adulto Joven , Gemelos Monocigóticos , Antropología Forense , Dermatoglifia , Gemelos Monocigóticos/genética , Estudios TransversalesRESUMEN
Se presenta el caso clínico de una primigesta de 21 años de edad, a quien se le detectó un embarazo gemelar monoamniótico y monocigótico en el examen ecográfico en el Centro Provincial de Genética de Santiago de Cuba. El primer feto presentaba hidronefrosis bilateral predominantemente en el lado izquierdo, y el segundo estructura fetal rudimentaria y deforme, área cardíaca mal estructurada y latidos cardíacos solo arrítmicos y bradicárdicos, además de que no se definieron los órganos internos y todo se encontraba rodeado de linfangioma quístico grave con grandes quistes paravertebrales y un solo cordón umbilical con tres vasos. Lo descrito en la ecografía se corroboró con los resultados de la necropsia, lo cual se correspondió con la variedad Acardius mylacephalus
The case report of a 21 years primigravida woman is presented to whom a monoamniotic and monochorial twin pregnancy was detected in the echographic exam at the Genetic Provincial Center of Santiago de Cuba. The first fetus presented bilateral hydronephrosis predominantly in the left side, and the second rudimentary and deformed fetal structure, not well structured heart area and just arrhythmic and bradycardiac heart beats besides that the internal organs were not defined and everything was surrounded by severe cystic lymphangioma with big paravertebral cysts and a single umbilical cord with three vessels. Everything described in the echogram was corroborated with the results of the autopsy, which corresponded with Acardius mylacephalus variety
Asunto(s)
Humanos , Femenino , Embarazo , Adulto , Gemelos Monocigóticos/genética , Transfusión Feto-Fetal/diagnóstico por imagen , Embarazo Gemelar/genética , Autopsia , Anomalías Congénitas/diagnóstico por imagenRESUMEN
Objectives: To determine if the large and highly reproducible interindividual differences in arousal intensity and heart rate response to arousal (ΔHR) during non-REM sleep are heritable. Methods: Polysomnograms of 55 monozygotic (14 male and 41 female pairs) and 36 dizygotic (15 male and 21 female pairs) same-sex twin pairs were analyzed. Arousals were scored using the 2012 American Academy of Sleep Medicine criteria. Arousal intensity was scaled (between 0 and 9) using an automatic algorithm based on the change in electroencephalogram time and frequency characteristics. The ΔHR was determined at each arousal. We calculated average arousal duration, average arousal intensity, average overall ΔHR, average ΔHR at a given arousal intensity, slope of ΔHR per arousal intensity, and arousal intensity threshold of ΔHR. Results: The intraclass correlations among monozygotic and dizygotic twin pairs were 0.663 and 0.146, respectively, for average arousal intensity, and 0.449 and 0, respectively, for arousal intensity threshold of ΔHR controlling for age, sex, and race. These values imply large broad sense heritability (H2) for these traits. This evidence was confirmed by a robust maximum likelihood-based variance components estimation approach, with an additive genetic heritability of 0.64 (95% confidence interval: 0.48 to 0.80) for average arousal intensity and a combined additive and dominance genetic heritability and of 0.46 (0.25 to 0.68) for arousal intensity threshold of ΔHR. Results also suggested significant additive genetic effects for average arousal duration, ΔHR at arousal intensity scale 4 and the overall average ΔHR. Conclusion: Genetic factors explain a significant fraction of the phenotypic variability for average arousal intensity and arousal intensity threshold of ΔHR. Results suggest that the duration of arousals and specific average ΔHR values may also be heritable traits. Clinical trial registration: NCT02827461.
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Nivel de Alerta/fisiología , Frecuencia Cardíaca/genética , Frecuencia Cardíaca/fisiología , Gemelos Monocigóticos/genética , Adulto , Algoritmos , Nivel de Alerta/genética , Electroencefalografía , Femenino , Humanos , Funciones de Verosimilitud , Masculino , Fenotipo , PolisomnografíaRESUMEN
The Brazilian Twin Registry (BTR) was established in 2013 and has impelled twin research in South America. The main aim of the initiative was to create a resource that would be accessible to the Brazilian scientific community as well as international researchers interested in the investigation of the contribution of genetic and environmental factors in the development of common diseases, phenotypes, and human behavior traits. The BTR is a joint effort between academic and governmental institutions from Brazil and Australia. The collaboration includes the Federal University of Minas Gerais (UFMG) in Brazil, the University of Sydney and University of Melbourne in Australia, the Australian Twin Registry, as well as the research foundations CNPq and CAPES in Brazil. The BTR is a member of the International Network of Twin Registries. Recruitment strategies used to register twins have been through participation in a longitudinal study investigating genetic and environmental factors for low back pain occurrence, and from a variety of sources including media campaigns and social networking. Currently, 291 twins are registered in the BTR, with data on demographics, zygosity, anthropometrics, and health history having been collected from 151 twins using a standardized self-reported questionnaire. Future BTR plans include the registration of thousands of Brazilian twins identified from different sources and collaborate nationally and internationally with other research groups interested on twin studies.
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Enfermedades en Gemelos/epidemiología , Sistema de Registros , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Adulto , Australia , Brasil , Enfermedades en Gemelos/genética , Femenino , Humanos , Estudios Longitudinales , Masculino , Encuestas y CuestionariosRESUMEN
INTRODUCTION: The feeding behavior in humans is complex, with psychological, social, and cultural factors. This pathology consists of the desire to eat (reinforcement/reward) and the control of the act of eating (inhibitory control). It is well known that blocking post-synaptic D2 receptors in the nucleus accumbens induces a decrease of craving behavior. Due to this, to test hypothesis we measured the expression of the DRD2 gene and the expression of the type of feeding factor in a group of Mexican twins. METHODS: In the study were included 18 pairs of twins (n = 36), reared together (at least up to 18 years old); native to Mexico City; to whom we applied the three factors of food instrument. RESULTS: We observed a significant correlation between the "uncontrolled" factor and expression of the DRD2 gene (p < 0.03). CONCLUSION: Therefore, we propose that the expression of the DRD2 gene in subjects is a linkage to the type of feeding factor.
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Conducta Alimentaria/fisiología , Expresión Génica , Receptores de Dopamina D2/genética , Gemelos Monocigóticos/genética , Adulto , Femenino , Humanos , Masculino , México , Adulto JovenRESUMEN
Rare are the family studies that include siblings affected by pemphigus vulgaris (PV) and in whom HLA class II alleles are related. HLA-DR and -DQ genotyping and profiling of antibodies against desmogleins (Dsg) 1 and Dsg3 were performed in ten members of a family including monozygotic twins affected by PV. The twin sisters were heterozygotes; they presented the haplotypes most commonly associated with increased susceptibility to PV (DRB1∗04:02-DQA1∗03:01-DQB1∗03:02 and DRB1∗14:04-DQA1∗01:01-DQB1∗05:03). Their parents and five siblings had only one or none of these two haplotypes in combination with the alleles or haplotypes associated with resistance to PV (DRB1∗07:01-DQA1∗02:01-DQB1∗02:02 and DRB1∗13:01-DQA1∗01:03-DQB1∗06:03). Only the monozygotic twins presented IgG antibodies against both Dsg1 and Dsg3. According to our knowledge based on a review of published literature on the topic, this is the first report of PV affecting monozygotic twins.
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Cadenas alfa de HLA-DQ/genética , Cadenas beta de HLA-DQ/genética , Cadenas HLA-DRB1/genética , Pénfigo/genética , Adolescente , Corticoesteroides/uso terapéutico , Autoanticuerpos/sangre , Brasil , Desmogleína 1/inmunología , Desmogleína 3/inmunología , Resistencia a Medicamentos , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Linaje , Pénfigo/diagnóstico , Pénfigo/tratamiento farmacológico , Polimorfismo Genético , Gemelos Monocigóticos/genéticaRESUMEN
OBJECTIVE: To determine the genetic contribution to risk for respiratory distress syndrome (RDS) among moderately preterm, late preterm, and term infants (estimated gestational age ≥32 weeks) of African- and European-descent. STUDY DESIGN: We reviewed clinical records for 524 consecutive twin pairs ≥32 weeks gestation. We identified pairs in which at least 1 twin had RDS (n = 225) and compared the concordance of RDS between monozygotic and dizygotic twins. Using mixed-effects logistic regression, we identified covariates that increased disease risk. We performed additive genetic, common environmental, and residual effects modeling to estimate genetic variance and used the ratio of genetic variance to total variance to estimate genetic contribution to RDS disease risk. RESULTS: Monozygotic twins were more concordant for RDS than dizygotic twins (P = .0040). Estimated gestational age, European-descent, male sex, delivery by cesarean, and 5-minute Apgar score each independently increased risk for RDS. After adjusting for these covariates, genetic effects accounted for 58% (P = .0002) of the RDS disease risk variance for all twin pairs. CONCLUSIONS: In addition to environmental factors, genetic factors may contribute to RDS risk among moderately preterm, late preterm, and term infants. Discovery of risk alleles may be important for prediction and management of RDS risk.
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Recien Nacido Prematuro , Síndrome de Dificultad Respiratoria del Recién Nacido/genética , Nacimiento a Término , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genética , Femenino , Predisposición Genética a la Enfermedad , Edad Gestacional , Humanos , Recién Nacido , Modelos Logísticos , Masculino , Embarazo , Estudios Retrospectivos , Factores de RiesgoRESUMEN
Multiple genetic and environmental factors interact to determine an individual's predisposition to non-alcoholic fatty liver disease and its phenotypic characteristics. Association studies have found a number of alleles associated with the development of non-alcoholic steatohepatitis. Our aim was to investigate whether multiple risk-associated alleles may be present in affected monozygotic twins, indicating underlying genetic predisposition to non-alcoholic steatohepatitis. We determined the genotype of 14 candidate gene polymorphisms (at 11 unlinked loci) in a set of monozygotic twins who presented with cirrhosis within 18 months of each other. Genotyping revealed multiple single nucleotide polymorphisms at 9 independent loci in genes PNPLA3, APOC3, GCKR, TRIB1, LYPLAL1, PPP1R3B, COL13A1, and EFCAB4B, previously implicated in contributing to non-alcoholic steatohepatitis pathogenesis. In conclusion, this case series illustrates the potential cumulative effect of multiple polymorphisms in the development and potential progression of a complex trait such as NASH cirrhosis.
Asunto(s)
Cirrosis Hepática/genética , Enfermedad del Hígado Graso no Alcohólico/genética , Gemelos Monocigóticos/genética , Proteínas Adaptadoras Transductoras de Señales/genética , Anciano , Apolipoproteína C-III/genética , Proteínas de Unión al Calcio/genética , Colágeno Tipo XIII/genética , Genotipo , Humanos , Péptidos y Proteínas de Señalización Intracelular/genética , Lipasa/genética , Cirrosis Hepática/etiología , Lisofosfolipasa/genética , Masculino , Proteínas de la Membrana/genética , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Polimorfismo de Nucleótido Simple , Proteína Fosfatasa 1/genética , Proteínas Serina-Treonina Quinasas/antagonistas & inhibidores , Proteínas Serina-Treonina Quinasas/genéticaRESUMEN
Abstract Background: Configuration of the abdominal aorta is related to healthy aging and a variety of disorders. Objectives: We aimed to assess heritable and environmental effects on the abdominal aortic diameter. Methods: 114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation. Results: Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively. Conclusions: Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.
Resumo Fundamento: A configuração da aorta abdominal relaciona-se com o envelhecimento saudável e uma série de distúrbios. Objetivos: Avaliar efeitos herdáveis e ambientais no diâmetro da aorta abdominal. Métodos: 114 pares de gêmeos adultos (69 monozigóticos e 45 dizigóticos do mesmo sexo), com idade média de 43,6 ± 16,3 anos, foram submetidos a ultrassonografia abdominal com o aparelho Esaote MyLab 70X para visualização da aorta abdominal abaixo da origem das artérias renais e 1-3 cm acima da bifurcação aórtica. Resultados: A herdabilidade ajustada para idade e sexo do diâmetro da aorta abdominal abaixo da origem das artérias renais foi 40% [intervalo de confiança (IC) 95%, 14 – 67%] e acima da bifurcação, 55% (IC 95%, 45 – 70%). Nenhum dos diâmetros aórticos apresentou efeitos ambientais comuns, mas os efeitos ambientais não compartilhados foram responsáveis por 60% e 45% dos traços, respectivamente. Conclusões: Nossa análise mostrou herdabilidade moderada e diferença do diâmetro da aorta abdominal com especificidade de segmento. A parte moderada da variância foi explicada pelo componente ambiental não compartilhado, enfatizando a importância do estilo de vida na prevenção primária. Estudos adicionais nesse campo poderão guiar futuros esforços de mapeamento genético e investigar fatores específicos de estilo de vida para prevenir dilatação da aorta abdominal e suas complicações.
Asunto(s)
Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Aorta Abdominal/anatomía & histología , Interacción Gen-Ambiente , Aorta Abdominal , Enfermedades de la Aorta/genética , Aterosclerosis/genética , Predisposición Genética a la Enfermedad , Estilo de Vida , Tamaño de los Órganos/genética , Valores de Referencia , Factores de Riesgo , Gemelos Dicigóticos/genética , Gemelos Monocigóticos/genéticaRESUMEN
BACKGROUND: Configuration of the abdominal aorta is related to healthy aging and a variety of disorders. OBJECTIVES: We aimed to assess heritable and environmental effects on the abdominal aortic diameter. METHODS: 114 adult (69 monozygotic, 45 same-sex dizygotic) twin pairs (mean age 43.6 ± 16.3 years) underwent abdominal ultrasound with Esaote MyLab 70X ultrasound machine to visualize the abdominal aorta below the level of the origin of the renal arteries and 1-3 cm above the bifurcation. RESULTS: Age- and sex-adjusted heritability of the abdominal aortic diameter below the level of the origin of the renal arteries was 40% [95% confidence interval (CI), 14 to 67%] and 55% above the aortic bifurcation (95% CI, 45 to 70%). None of the aortic diameters showed common environmental effects, but unshared environmental effects were responsible for 60% and 45% of the traits, respectively. CONCLUSIONS: Our analysis documents the moderate heritability and its segment-specific difference of the abdominal aortic diameter. The moderate part of variance was explained by unshared environmental components, emphasizing the importance of lifestyle factors in primary prevention. Further studies in this field may guide future gene-mapping efforts and investigate specific lifestyle factors to prevent abdominal aortic dilatation and its complications.