ABSTRACT
Objective: To describe the distribution characteristics of hypertension among adult twins in the Chinese National Twin Registry (CNTR) and to provide clues for exploring the role of genetic and environmental factors on hypertension. Methods: A total of 69 220 (34 610 pairs) of twins aged 18 and above with hypertension information were selected from CNTR registered from 2010 to 2018. Random effect models were used to describe the population and regional distribution of hypertension in twins. To estimate the heritability, the concordance rates of hypertension were calculated and compared between monozygotic twins (MZ) and dizygotic twins (DZ). Results: The age of all participants was (34.1±12.4) years. The overall self-reported prevalence of hypertension was 3.8%(2 610/69 220). Twin pairs who were older, living in urban areas, married, overweight or obese, current smokers or ex-smokers, and current drinkers or abstainers had a higher self-reported prevalence of hypertension (P<0.05). Analysis within the same-sex twin pairs found that the concordance rate of hypertension was 43.2% in MZ and 27.0% in DZ, and the difference was statistically significant (P<0.001). The heritability of hypertension was 22.1% (95%CI: 16.3%- 28.0%). Stratified by gender, age, and region, the concordance rate of hypertension in MZ was still higher than that in DZ. The heritability of hypertension was higher in female participants. Conclusions: There were differences in the distribution of hypertension among twins with different demographic and regional characteristics. It is indicated that genetic factors play a crucial role in hypertension in different genders, ages, and regions, while the magnitude of genetic effects may vary.
Subject(s)
Adult , Female , Humans , Male , Alcohol Drinking , Diseases in Twins/genetics , Hypertension/genetics , Twins, Dizygotic/genetics , Twins, Monozygotic/geneticsABSTRACT
Objective: To describe the distribution characteristics of hyperlipidemia in adult twins in the Chinese National Twin Registry (CNTR) and explore the effect of genetic and environmental factors on hyperlipidemia. Methods: Twins recruited from the CNTR in 11 project areas across China were included in the study. A total of 69 130 (34 565 pairs) of adult twins with complete information on hyperlipidemia were selected for analysis. The random effect model was used to characterize the population and regional distribution of hyperlipidemia among twins. The concordance rates of hyperlipidemia were calculated in monozygotic twins (MZ) and dizygotic twins (DZ), respectively, to estimate the heritability. Results: The age of all participants was (34.2±12.4) years. This study's prevalence of hyperlipidemia was 1.3% (895/69 130). Twin pairs who were men, older, living in urban areas, married,had junior college degree or above, overweight, obese, insufficient physical activity, current smokers, ex-smokers, current drinkers, and ex-drinkers had a higher prevalence of hyperlipidemia (P<0.05). In within-pair analysis, the concordance rate of hyperlipidemia was 29.1% (118/405) in MZ and 18.1% (57/315) in DZ, and the difference was statistically significant (P<0.05). Stratified by gender, age, and region, the concordance rate of hyperlipidemia in MZ was still higher than that in DZ. Further, in within-same-sex twin pair analyses, the heritability of hyperlipidemia was 13.04% (95%CI: 2.61%-23.47%) in the northern group and 18.59% (95%CI: 4.43%-32.74%) in the female group, respectively. Conclusions: Adult twins were included in this study and were found to have a lower prevalence of hyperlipidemia than in the general population study, with population and regional differences. Genetic factors influence hyperlipidemia, but the genetic effect may vary with gender and area.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , China/epidemiology , Diseases in Twins/genetics , Hyperlipidemias/genetics , Metabolic Diseases , Twins, Dizygotic , Twins, Monozygotic/geneticsABSTRACT
Genetic and environmental factors are essential in occlusal variations and malocclusion and have been of considerable interest to orthodontists. Studies on twin pairs are one of the most effective methods for investigating genetically determined occlusal variables. Many studies have focused on distances between first molars or between canines but malocclusions can also occur in other regions of the dental arch. Aim: To evaluate the characteristics of the dental arch between pairs of Monozygotic (MZ) and Dizygotic (DZ) twins from Southern India. Methods: A random sample of 51 twin pairs (1218years old) participated in this study. The zygosity of twin pairs was recorded by facial appearance. The occlusion of the first permanent molars was recorded according to Angle's classification. Study models were prepared to assess dental arch characteristics (i.e., arch form, arch perimeter, arch length; intercanine, intermolar width, and teeth size discrepancy). The obtained data was statistically analyzed using SPSS software 19.0. The student's t-test (two-tailed, independent) and Chi-square test was used to determine the significance of studied parameters. Results: Angle's Class I molar relation was more commonly observed followed by the Class II molar relationship among twins. The measured dental arch dimensions did not show a statistically significant difference among twin pairs. The ovoid arch form was commonly observed among Monozygotic and Dizygotic Twins. There was a similarity among MZ and DZ twins in the anterior and overall Bolton's ratio. Conclusion: There were similar occurrences of measured parameters among twins, which showed genetic predominance in the expression of measured dental arch traits
Subject(s)
Humans , Male , Female , Child , Adolescent , Twins, Dizygotic , Twins, Monozygotic , Dental Arch/anatomy & histology , IndiaABSTRACT
Objective: To describe the distribution characteristics of type 2 diabetes in twins in Chinese National Twin Registry (CNTR), provide clues and evidence for revealing the influence of genetic and environmental factors for type 2 diabetes. Methods: Of all twins registered in the CNTR during 2010-2018, a total 18 855 twin pairs aged ≥30 years with complete registration information were included in the analysis. The random effect model was used to describe the population and area distribution characteristics and concordance of type 2 diabetes in twin pairs. Results: The mean age of the subjects was (42.8±10.2) years, the study subjects included 10 339 monozygotic (MZ) twin pairs and 8 516 dizygotic (DZ) twin pairs. The self-reported prevalence rate of type 2 diabetes was 2.2% in total population and there was no sighificant difference between MZ and DZ. Intra-twin pairs analysis showed that the concordance rate of type 2 diabetes was 38.2% in MZ twin pairs, and 16.0% in DZ twin pairs, the difference was statistically significant (P<0.001). The concordance rate of type 2 diabetes in MZ twin parts was higher than that in DZ twin pairs in both men and women, in different age groups and in different areas (P<0.05). Further stratified analysis showed that in northern China, only MZ twin pairs less than 60 years old were found to have a higher concordance rate of type 2 diabetes compared with DZ twin pairs (P<0.05). In southern China, the co-prevalence rate in male MZ twin pairs aged ≥60 years was still higher than that in DZ twin pairs (P<0.05). Conclusion: The twin pairs in this study had a lower self-reported prevalence of type 2 diabetes than the general population. The study results suggested that genetic factors play a role in type 2 diabetes prevalence in both men and women, in different age groups and in different areas, however, the effect might vary.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , China/epidemiology , Diabetes Mellitus, Type 2/genetics , Diseases in Twins/genetics , Registries , Twins, Dizygotic , Twins, Monozygotic/geneticsABSTRACT
Objective: To describe the distribution characteristics of coronary heart disease in adult twins recruited from Chinese Twin Registry (CNTR), and provide clues and evidence for the effect of genetic and environmental influences on coronary heart disease. Methods: By using the data of CNTR during 2010-2018, a total of 34 583 twin pairs aged ≥18 years who completed questionnaire survey and had related information were included in the current study to analyze the population and area distribution characteristics of coronary heart disease. Random effect models were used to compare the differences between groups. The concordane rate of coronary heart disease were calculated respectively in monozygotic (MZ) twin pairs and dizygotic (DZ) twin pairs to estimate the heritability. Results: The twin pairs included in this analysis were aged (34.2±12.4) years. The overall prevalence rate of coronary heart disease in twin pairs was 0.7%. Twin pairs who were women, older, obese and lived in northern China had higher prevalence of coronary heart disease (P<0.05). Intra-pair analysis in the same-sex twin pairs found that the concordane rate of coronary heart disease was higher in MZ twin pairs (25.3%) than in DZ twins (7.4%), and the difference was statistically significant (P<0.001). The overall heritability of coronary heart disease was 19.3% (95%CI: 11.8%-26.8%). Stratified by gender, age and area, the concordane rate was still higher in MZ twin pairs than in DZ pairs. Participants who were women, aged 18-30 years or ≥60 years and lived in northern China had a higher heritability of coronary heart disease. Conclusion: The distribution of coronary heart disease in twin pairs differed in populations and areas. The prevalence of coronary heart disease was affected by genetic factors, but the effect varied with age, gender and area.
Subject(s)
Adolescent , Adult , Female , Humans , Male , China/epidemiology , Coronary Disease/genetics , Diseases in Twins/genetics , Twins, Dizygotic , Twins, Monozygotic/geneticsABSTRACT
Objective: To explore the gene-lifestyle interaction on coronary heart disease (CHD) in adult twins of China. Methods: Participants were selected from twin pairs registered in the Chinese National Twin Registry (CNTR). Univariate interaction model was used to estimate the interaction, via exploring the moderation effect of lifestyle on the genetic variance of CHD. Results: A total of 20 477 same-sex twin pairs aged ≥25 years were recruited, including 395 CHD cases, and 66 twin pairs both had CHD. After adjustment for age and sex, no moderation effects of lifestyles, including current smoking, current drinking, physical activity, intake of vegetable and fruit, on the genetic variance of CHD were found (P>0.05), suggesting no significant interactions. Conclusion: There was no evidence suggesting statistically significant gene-lifestyle interaction on CHD in adult twins of China.
Subject(s)
Adult , Humans , China/epidemiology , Coronary Disease/genetics , Diseases in Twins/genetics , Life Style , Twins/genetics , Twins, Dizygotic , Twins, MonozygoticABSTRACT
@#Henoch-Schönlein purpura (HSP) is the most common form of vasculitis in children that is clinically characterized by the classic triad of palpable purpura, joint symptoms, and abdominal pain. A 6-year-old girl, one of fraternal twins, was admitted to the Pediatric Department, Universitas Airlangga with fever, rashes on legs and arms and intermittent mild abdominal pain. She had multiple purpuric rashes on her extremities, abdomen and buttocks. Laboratory investigation revealed immunoglobulin A level of 289.6 mg/dL. The patient was diagnosed as HSP vasculitis according to EULAR criteria and treated with intravenous methylprednisolone. She was discharged after three days with normal physical examination and laboratory findings. Intraoral examination showed dental infection in the upper tooth region. The paediatrician suspected a correlation between HSP and her dental infection. The dental infection and genetic susceptibility may be the stimulant factors for the autoimmune reactions that caused HSP vasculitis. Hence, it might be useful to investigate the presence of dental infection in the etiology of HSP cases.
Subject(s)
IgA Vasculitis , Twins, DizygoticABSTRACT
Abstract: Heteropaternal superfecundation is an extremely rare phenomenon that occurs when a second ova released during the same menstrual cycle is additionally fertilized by the sperm cells of a different man in separate sexual intercourse. In August, 2018, the Grupo de Genética de Poblaciones e Identificación at Universidad Nacional de Colombia received a request to establish the paternity of a pair of male twins with genetic markers. The following analyses were performed: amelogenin gene, autosomal short tandem repeat (STR), and Y-STR analyses by means of human identification commercial kits, paternity index, and the probability of paternity calculation and interpretation. A paternity index of 2.5134E+7 and a probability of paternity of 99.9999% for twin 2 were obtained while 14 out of 17 Y-chromosome markers and 14 out of 21 autosomal short tandem repeats were excluded for twin 1. The results indicated that the twins have different biological fathers. Although heteropaternal superfecundation is rarely observed among humans given its low frequency, in paternity disputes for dizygotic twins it is mandatory to demand the presence of the two twins in the testing to avoid wrong conclusions.
Resumen: La superfecundación heteropaternal es un fenómeno extremadamente raro que se produce cuando un segundo óvulo, liberado durante el mismo ciclo menstrual, es fertilizado por un espermatozoide de un hombre diferente en relaciones sexuales separadas. En agosto de 2018, el Grupo de Genética de Poblaciones e Identificación de la Universidad Nacional de Colombia recibió una solicitud para establecer la paternidad mediante marcadores genéticos de un par de mellizos varones, en quienes se hizo el análisis del gen de amelogenina, el análisis de repeticiones cortas en tándem (Short Tandem Repeats, STR) autosómicas y del cromosoma Y (Y-STR) mediante kits comerciales de identificación humana y cálculos e interpretación del índice de paternidad y probabilidad de paternidad. Se obtuvo un índice de paternidad de 2,5134E+7 y una probabilidad de paternidad de 99,9999 % para el gemelo 2, en tanto que en el gemelo 1 se excluyeron 14 de los 17 marcadores del cromosoma Y y 14 de los 21 sistemas STR autosómicos evaluados. Los resultados indicaron que los gemelos tienen diferentes padres biológicos. A pesar de que la superfecundación heteropaternal rara vez se observa en humanos debido a su baja frecuencia, en las disputas de paternidad para los gemelos dicigóticos, es obligatorio exigir en la prueba la presencia de los dos gemelos para evitar conclusiones incorrectas.
Subject(s)
Twins, Dizygotic , Paternity , DNA Fingerprinting , Microsatellite Repeats , FertilizationABSTRACT
Resumen En este ensayo se analizan las implicaciones bioéticas de la reciente manipulación genética en embriones humanos con CRISPR-Cas9 para eliminar el gen CCR5 y el nacimiento de dos gemelas discordantes. El experimento se divulgó en medios sociales. Los principales problemas bioéticos identificados son la justificación del modelo, el proceso de consentimiento informado y la falta de declaración de evidentes conflictos de interés. No se evaluaron apropiadamente las consecuencias del experimento sobre la vida de las gemelas nacidas como la afectación a su autonomía, los supuestos beneficios por recibir y los riesgos futuros de daño durante su vida. Habiendo manipulado la línea celular germinal, no se consideraron los efectos sobre su descendencia futura. Este tipo de acciones tiene un impacto negativo en la forma como la sociedad concibe la ciencia. La ingeniería genética debe reservarse al contexto experimental básico o bien como investigación cínica para la corrección de enfermedades conocidas graves de origen genético, bajo estricta supervisión regulatoria y bioética y de manera gradualista de acuerdo con el progreso de las técnicas de edición genética.
Abstract In this essay, the bioethical implications of the recent genetic manipulation in human embryos with CRISPR-Cas9 to eliminate the CCR5 gene and the birth of a pair of discordant twin girls are analyzed. The experiment was disseminated via social media. The main bioethical flaws identified include the justification of the model, the informed consent process and the lack of disclosure of evident conflicts of interest. The consequences of the experiment on the life of the twins that were born were not properly evaluated, such as the impact on their autonomy, the alleged benefits to be received and the future risks of harm during their lifetime. Having manipulated the germ cell line, the effects on their future offspring were not considered. This type of actions negatively affects the way society conceives science. Genetic engineering should be reserved to the basic experimental context or as clinical research for the correction of known serious diseases of genetic origin under strict regulatory and bioethical supervision and using a gradualist approach in accordance with the advances of gene editing techniques.
Subject(s)
Humans , Female , Receptors, CCR5/genetics , CRISPR-Cas Systems , Gene Editing/ethics , Publishing/ethics , Research Design , Twins, Dizygotic , Genetic Engineering/classification , Genetic Engineering/ethics , Genome, Human , HIV Infections/prevention & control , China , Conflict of Interest , Sperm Injections, Intracytoplasmic , Bioethical Issues , Therapeutic Human Experimentation/ethics , Informed Consent/ethicsABSTRACT
We present 9-year-old fraternal twins from a family with piebaldism, having congenital depigmented macules and meeting the diagnostic criteria for neurofibromatosis type 1 (NF1) due to the multiple café-au-lait macules (CALMs) and intertriginous freckling at the same time. It's still a debatable issue that CALMs and intertriginous freckling may be seen in the clinical spectrum of piebaldism or these patients should be regarded as coexistence of piebaldism and NF1. However, based on recent literature and our patients' findings, we suggest that this rare phenotypic variant of piebaldism may not need the careful clinical follow-up and molecular testing for NF1. Besides, it may be suitable that these individuals with piebaldism showing NF1-like clinical phenotypes should be further tested for KIT and SPRED1 gene mutations.
Subject(s)
Child , Humans , Cafe-au-Lait Spots , Follow-Up Studies , Melanosis , Neurofibromatoses , Neurofibromatosis 1 , Phenotype , Piebaldism , Skin Diseases, Genetic , Twins, DizygoticABSTRACT
OBJECTIVE: The purpose of this study was to investigate the influence of heritability on the craniofacial soft tissue cephalometric characteristics of monozygotic (MZ) twins, dizygotic (DZ) twins, and their siblings (SIB). METHODS: The samples comprised Korean adult twins and their siblings (mean age, 39.8 years; MZ group, n = 36 pairs; DZ group, n = 13 pairs of the same gender; and SIB group, n = 26 pairs of the same gender). Thirty cephalometric variables were measured to characterize facial profile, facial height, soft-tissue thickness, and projection of nose and lip. Falconer's method was used to calculate heritability (low heritability, h2 0.9). After principal components analysis (PCA) was performed to extract the models, we calculated the intraclass correlation coefficient (ICC) value and heritability of each component. RESULTS: The MZ group exhibited higher ICC values for all cephalometric variables than DZ and SIB groups. Among cephalometric variables, the highest h2 (MZ-DZ) and h2 (MZ-SIB) values were observed for the nasolabial angle (NLA, 1.544 and 2.036), chin angle (1.342 and 1.112), soft tissue chin thickness (2.872 and 1.226), and upper lip thickness ratio (1.592 and 1.026). PCA derived eight components with 84.5% of a cumulative explanation. The components that exhibited higher values of h2 (MZ-DZ) and h2 (MZ-SIB) were PCA2, which includes facial convexity, NLA, and nose projection (1.026 and 0.972), and PCA7, which includes chin angle and soft tissue chin thickness (2.107 and 1.169). CONCLUSIONS: The nose and soft tissue chin were more influenced by genetic factors than other soft tissues.
Subject(s)
Adult , Humans , Chin , Lip , Methods , Nose , Passive Cutaneous Anaphylaxis , Siblings , Twins , Twins, Dizygotic , Twins, MonozygoticABSTRACT
PURPOSE: To report a case of congenital glaucoma associated with nail-patella syndrome. CASE SUMMARY: A 20-day-old female was referred to our clinic for bilateral intraocular pressure (IOP) elevation and treatment of corneal opacities. Her IOP was 25 mmHg and 30 mmHg in the right and left eyes, respectively. After a diagnosis of congenital glaucoma, bilateral trabeculotomy was performed under general anesthesia. On the first postoperative day, the IOP was 12 mmHg in the right eye and 10 mmHg in the left eye, and remained stable thereafter. The infant was the second of fraternal twins (birth weight of 2.42 kg) and had no family history of any particular disease. During the regular checkup, she was referred to an orthopedic clinic for disorders of the elbow and knee. She presented with a dystrophic thumbnail, patella hypoplasia, elbow hypoplasia, and bilateral triangular protrusions of the lateral iliac crest (iliac horn). Based on the above findings, typical nail-patella syndrome was diagnosed and a mutation in the LMX1B gene was detected. CONCLUSIONS: If glaucoma patients have nail deformities or musculoskeletal abnormalities, nail-patella syndrome should be suspected and a multidisciplinary approach should be conducted.
Subject(s)
Female , Humans , Infant , Anesthesia, General , Congenital Abnormalities , Corneal Opacity , Diagnosis , Elbow , Glaucoma , Intraocular Pressure , Knee , Musculoskeletal Abnormalities , Nail-Patella Syndrome , Orthopedics , Patella , Trabeculectomy , Twins, DizygoticABSTRACT
OBJECTIVE: The aim of the present study was to compare the placental weight and birth weight/placental weight ratio for intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. METHODS: This was a retrospective analysis of placentas from twin pregnancies. Placental weight and the birth weight/placental weight ratio were compared in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins. The association between cord insertion type and placental lesions in intrauterine growth-restricted and non-intrauterine growth-restricted monochorionic and dichorionic twins was also investigated. RESULTS: A total of 105 monochorionic (intrauterine growth restriction=40; non-intrauterine growth restriction=65) and 219 dichorionic (intrauterine growth restriction=57; non-intrauterine growth restriction=162) placentas were analyzed. A significantly lower placental weight was observed in intrauterine growth-restricted monochorionic (p=0.022) and dichorionic (p<0.001) twins compared to non-intrauterine growth-restricted twins. There was no difference in the birth weight/placental weight ratio between the intrauterine growth restriction and non-intrauterine growth restriction groups for either monochorionic (p=0.36) or dichorionic (p=0.68) twins. Placental weight and the birth weight/placental weight ratio were not associated with cord insertion type or with placental lesions. CONCLUSION: Low placental weight, and consequently reduced functional mass, appears to be involved in fetal growth restriction in monochorionic and dichorionic twins. The mechanism by which low placental weight influences the birth weight/placental weight ratio in intrauterine growth-restricted monochorionic and dichorionic twins needs to be determined in larger prospective studies.
Subject(s)
Humans , Female , Pregnancy , Adult , Young Adult , Birth Weight/physiology , Chorion/physiology , Fetal Development/physiology , Fetal Growth Retardation/physiopathology , Placenta/anatomy & histology , Pregnancy, Twin/physiology , Gestational Age , Organ Size , Placenta/pathology , Placenta/physiopathology , Reference Values , Retrospective Studies , Statistics, Nonparametric , Time Factors , Twins, Dizygotic , Twins, MonozygoticABSTRACT
Neonatal gastrointestinal mucormycosis, a rare disease with a high mortality rate, shows a rapid progressive course in premature infants with an immature immune system. We report the case of a male neonate weighing 970 g, delivered via cesarean section at 27 weeks, as one of a pair of dizygotic twins. From the 7(th) day after birth, bile was seen to drain through the orogastric tube, and paralytic ileus was noted on performing an abdominal X-ray. Thus, oral feeding was discontinued because necrotizing enterocolitis (NEC) was highly suspected. On the 9(th) day after birth, a firm mass was palpable in left upper abdominal quadrant, but no pneumatosis intestinalis was observed on performing abdominal X-ray. Small bowel intussusception was suspected on performing abdominal ultrasonography. Based on these findings, an exploratory laparotomy was performed, and although no intussusception was found intraoperatively, we performed a partial gastrectomy and hemicolectomy due to the presence of necrotic changes and perforations of the stomach and colon. Postoperatively, he was observed to have hypotension with persistence of hemorrhage at the surgical site. He died on the 11(th) day after birth. Intraoperative histopathological examination of stomach and colon showed fungal aseptate hyphae with broad branching. Gastrointestinal mucormycosis was confirmed based on findings of vascular involvement in the form of fungal hyphae and thrombosis in the transmural blood vessels. We report a case of an extremely low birth weight infant with neonatal gastrointestinal mucormycosis with an initial clinical presentation suggestive of intussusception and atypical NEC.
Subject(s)
Female , Humans , Infant , Infant, Newborn , Male , Pregnancy , Bile , Blood Vessels , Candida , Cesarean Section , Colon , Enterocolitis, Necrotizing , Fungi , Gastrectomy , Hemorrhage , Hyphae , Hypotension , Immune System , Infant, Extremely Low Birth Weight , Infant, Low Birth Weight , Infant, Premature , Intestinal Pseudo-Obstruction , Intussusception , Laparotomy , Mortality , Mucormycosis , Parturition , Rare Diseases , Stomach , Thrombosis , Twins, Dizygotic , UltrasonographyABSTRACT
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.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Aorta, Abdominal/anatomy & histology , Gene-Environment Interaction , Aorta, Abdominal , Aortic Diseases/genetics , Atherosclerosis/genetics , Genetic Predisposition to Disease , Life Style , Organ Size/genetics , Reference Values , Risk Factors , Twins, Dizygotic/genetics , Twins, Monozygotic/geneticsABSTRACT
<p><b>OBJECTIVE</b>To analyze the associations between birth weight and overweight/obesity among children.</p><p><b>METHODS</b>A total of 8 267 twin pairs younger than 18 years old from the Chinese National Twin Registry were included in the study. Associations between birth weight, childhood BMI and overweight/obesity were explored by this co-twin control study.</p><p><b>RESULTS</b>After adjusting for sex and zygosity, when birth weight had an increase of 0.5 kg per fold, the OR values for overweight and obesity were 1.87(95%CI: 1.40-2.48) for 2-6 year olds, 1.69 (95%CI: 1.16-2.46) for 6-12 year olds and 1.28 (95%CI: 0.80-2.07) for 12-18 year olds.</p><p><b>RESULTS</b>from the stratified analysis in the 2-6 year-olds, statistically significant differences were seen. When birth weight increased 0.5 kg per fold, the risk of overweight and obesity increased by 0.87 times among the dizygotic twins, more than that of the monozygotic twins (OR=1.86, 95%CI:1.24-2.81). The risk for male twins was 1.12 times higher than that of female twins (OR=1.65, 95%CI:1.11-2.44).</p><p><b>CONCLUSIONS</b>Birth weight seemed associated with overweight and obesity for kids at early childhood or at age for schools. However, guidance on the implementation of public health interventions is still needed on these children.</p>
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Birth Weight , China , Epidemiology , Obesity , Ethnology , Overweight , Ethnology , Registries , Risk , Twins, Dizygotic , Twins, MonozygoticABSTRACT
Objectives Decreased thyroid volume has been related to increased prevalence of thyroid cancer. Subjects and methods One hundred and fourteen Hungarian adult twin pairs (69 monozygotic, 45 dizygotic) with or without known thyroid disorders underwent thyroid ultrasound. Thickness of the thyroid isthmus was measured at the thickest portion of the gland in the midline using electronic calipers at the time of scanning. Volume of the thyroid lobe was computed according to the following formula: thyroid height*width*depth*correction factor (0.63). Results Age-, sex-, body mass index- and smoking-adjusted heritability of the thickness of thyroid isthmus was 50% (95% confidence interval [CI], 35 to 66%). Neither left nor right thyroid volume showed additive genetic effects, but shared environments were 68% (95% CI, 48 to 80%) and 79% (95% CI, 72 to 87%), respectively. Magnitudes of monozygotic and dizygotic co-twin correlations were not substantially impacted by the correction of covariates of body mass index and smoking. Unshared environmental effects showed a moderate influence on dependent parameters (24-50%). Conclusions Our analysis support that familial factors are important for thyroid measures in a general twin population. A larger sample size is needed to show whether this is because of common environmental (e.g. intrauterine effects, regional nutrition habits, iodine supply) or genetic effects.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Gene-Environment Interaction , Thyroid Gland , Cross-Sectional Studies , Genetic Predisposition to Disease/epidemiology , Hungary/epidemiology , Organ Size/genetics , Prevalence , Risk Assessment , Thyroid Gland/anatomy & histology , Twins, Dizygotic/genetics , Twins, Monozygotic/geneticsABSTRACT
We assessed genetic and environmental effects on bone development of the hand and wrist, and on key anthropometric measures in Chinese young twins. In total, 139 monozygotic and 95 dizygotic twin pairs aged from 5 to 18 years were recruited. The twin correlations of total hand and wrist scores for monozygotic (MZ) and dizygotic (DZ) twins were 0.71 and 0.36, respectively. Bivariate model analysis showed moderate genetic correlations only for total skeletal maturity vs. weight and total skeletal maturity vs. waist circumference (r, 0.51 and 0.46, respectively). Our findings demonstrated that genetic factors played important roles in bone development of the hand and wrist in Chinese young twins, and that these genetic effects might be distinct from those influencing anthropometric measures.
Subject(s)
Adolescent , Child , Child, Preschool , Humans , Bone Development , Genetics , China , Environmental Exposure , Hand Bones , Twins, Dizygotic , Twins, Monozygotic , WristABSTRACT
<p><b>OBJECTIVE</b>To explore the heritability of body mass index (BMI) in twins across different regions and genders in China.</p><p><b>METHODS</b>A total of 11 122 adult twin pairs from the Chinese National Twin Registry were interviewed. A structural equation model was used to estimate the heritability of BMI.</p><p><b>RESULTS</b>This study included 6 226 monozygotic twin pairs and 4 896 dizygotic twin pairs, with the age range as 25-85 (39.0 ± 10.8) years. Under stratified analysis by region, results showed that the highest and lowest rates on heritability of BMI in men were seen in Tianjin and Zhejiang, as 67.8% (95% CI: 50.1%-85.8%) and 42.1% (95% CI: 27.2%-60.9%), while in women were seen in Sichuan and Heilongjiang as 56.2% (95% CI: 47.5%-70.0%) and 11.2% (95% CI: 0.0%-31.7%), respectively. Results from the stratified analysis showed that, by gender, the heritability of BMI in men was higher than that in women from the same region. The biggest differences of heritability of BMI between men and women were seen in Heilongjiang as 55.3% (95% CI: 35.5%-80.0%) and 11.2% (95% CI: 0-31.7%), while the smallest differences were seen in Sichuan as 61.5% (95% CI: 40.7%-86.4%) and 56.2% (95% CI: 47.5%-70.0%), respectively.</p><p><b>CONCLUSION</b>The heritability of BMI across different regions and genders showed certain differences in the Chinese twins.</p>
Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Asian People , Genetics , Body Mass Index , China , Cities , Registries , Twins, Dizygotic , Genetics , Twins, Monozygotic , GeneticsABSTRACT
Poland syndrome, also known as pectoral aplasia-dysdactylia syndrome, is a rare anomaly, characterized by aplasia of the pectoralis major muscle with ipsilateral upper extremity anomalies. The cause of Poland syndrome is still unknown. Several twin patients were reported to propose a genetic or nongenetic hypothesis. We experienced a female baby showing absence of the pectoralis major muscle in a pair of mixed twin. The patient was referred to our hospital for evaluation of an asymmetric chest wall. She showed depression of the left chest wall, ipsilateral nipple hypoplasia, and axillary webbing. A chest CT scan showed aplasia of the left large pectoral muscle. Our patient had no abnormalities such as symbrachydactyly in an ipsilateral upper extremity. In comparison, a physical examination showed that the fraternal twin boy was completely normal.