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The Australian & New Zealand Journal of... Oct 2022The extent to which maternal transmission of primary dysmenorrhoea is genetically determined in adolescents and young women has yet to be determined. We aimed to assess...
AIMS
The extent to which maternal transmission of primary dysmenorrhoea is genetically determined in adolescents and young women has yet to be determined. We aimed to assess heritability and associations relevant to primary pain syndromes using a twin family study.
METHODS
Participants were young menstruating female twins, and their oldest sisters and mothers, whose families were registered with Twins Research Australia and previously participated in a twin family study of primary paediatric pain disorders. Questionnaire packs were mailed, assessing current maximum and average menstrual pain intensity, current pain interference with activities and retrospective dysmenorrhea secondary symptoms.
RESULTS
The sample comprised 206 twin individuals (57 monozygous (MZ) and 46 dizygous (DZ) pairs) aged 10-22 years, eldest siblings (n = 38) aged 13-28 years and mothers (n = 101) aged 32-61 years. The estimated regression coefficient of the relationship between mother-daughter and twin-sibling dyads indicated significant associations for the measures of dysmenorrhea and supported heritability. Adjusted for age, the within twin-pair correlation for MZ twins was generally more than twice that of DZ twins. Heritability estimates were maximal pain intensity 0.67 (P = 3.8 × 10 ), average pain intensity 0.63 (P = 3.7 × 10 ), pain interference 0.57 (P = 1.8 × 10 ) and retrospective symptoms 0.57 (P = 1.8 × 10 ). Twin individuals with a lifetime (three-month) history of iron deficiency and those with painless restless legs syndrome (RLS) were significantly more likely to have more intense pain associated with menstruation.
CONCLUSION
Primary dysmenorrhea in adolescents and young women was shown to be relatively strongly genetically influenced and associated especially with a history of iron deficiency and painless RLS which have potential therapeutic implications.
Topics: Adolescent; Child; Dysmenorrhea; Female; Humans; Mothers; Retrospective Studies; Twins, Dizygotic; Twins, Monozygotic
PubMed: 35754341
DOI: 10.1111/ajo.13560 -
Archives of Razi Institute Oct 2021The present study aimed to assess the relationship of Growth Differentiation Factor 9 (GDF9) genotypes with calving rate, Follicle-stimulating hormone (FSH), and...
The present study aimed to assess the relationship of Growth Differentiation Factor 9 (GDF9) genotypes with calving rate, Follicle-stimulating hormone (FSH), and Estradiol (E2) in the Iraqi Holstein-Friesian breed. A number of 15 blood samples were collected from a mother of dizygotic twin birth (DZTB) (with high calving rate records), and another blood sample was collected from 15 single birth (SB) cows. The DNA was extracted and six primers were designed for PCR and sequencing analysis. The FSH and E2 levels were tested through the estrus phase for the two groups (n=10 in each group). The sequence evaluation revealed the presence of two single nucleotide polymorphisms (SNPs) in exon II: A (1109) T and G (1133) A. The genotypic frequency for mutant genotypes was higher significantly (P<0.01) in DZTB cows (with calving rate), as compared to wild genotypes at the same loci. On the other hand, the wild genotypes recorded a significant increment (P<0.01) for SB cows, when compared to mutant genotypes in the same loci. Moreover, a significant rise (P<0.05) was reported in E2 and FSH levels for DZTB cows and mutant genotypes (P<0.01) against SB cows and wild genotypes in 0 and 24 h of estrus phase, respectively. Furthermore, non-significant differences were recorded in E2 concentration among the same genotypes at the same period. In conclusion, the GDF9 exon II SNPs increased the calving rate in Holstein-Friesian cows. The blood FSH and E2 concentrations were higher in the DZTB cows and control the superovulation. Finally, these SNPs can be regarded as markers to accelerate the breeding programs and used in embryo transfer and in vitro embryo production for Iraqi Holstein-Friesian cow breed.
Topics: Animals; Cattle; Female; Genotype; Growth Differentiation Factor 9; Polymorphism, Single Nucleotide; Superovulation
PubMed: 35096339
DOI: 10.22092/ari.2021.354310.1632 -
Sleep Advances : a Journal of the Sleep... 2021To investigate the influence of genetic and environmental factors on sleep-wake behaviors across adolescence.
STUDY OBJECTIVES
To investigate the influence of genetic and environmental factors on sleep-wake behaviors across adolescence.
METHODS
Four hundred and ninety-five participants (aged 9-17; 55% females), including 93 monozygotic and 117 dizygotic twin pairs, and 75 unmatched twins, wore an accelerometry device and completed a sleep diary for 2 weeks.
RESULTS
Individual differences in sleep onset, wake time, and sleep midpoint were influenced by both additive genetic (44%-50% of total variance) and shared environmental (31%-42%) factors, with a predominant genetic influence for sleep duration (62%) and restorative sleep (43%). When stratified into younger (aged 9-14) and older (aged 16-17) subsamples, genetic sources were more prominent in older adolescents. The moderate correlation between sleep duration and midpoint (P = -.43, G = .54) was attributable to a common genetic source. Sleep-wake behaviors on school and nonschool nights were correlated (P = .44-.72) and influenced by the same genetic and unique environmental factors. Genetic sources specific to night-type were also identified, for all behaviors except restorative sleep.
CONCLUSIONS
There were strong genetic influences on sleep-wake phenotypes, particularly on sleep timing, in adolescence. Moreover, there may be common genetic influences underlying both sleep and circadian rhythms. The differences in sleep-wake behaviors on school and nonschool nights could be attributable to genetic factors involved in reactivity to environmental context.
PubMed: 37193570
DOI: 10.1093/sleepadvances/zpab018 -
Scientific Data Oct 2020There are recent studies which aimed to detect the inheritance on the etiology of dental caries exploring oral composition. We present data on the oral microbiota and...
There are recent studies which aimed to detect the inheritance on the etiology of dental caries exploring oral composition. We present data on the oral microbiota and its relation with dental caries and other factors in monozygotic (MZ) and dizygotic (DZ) twin children. Following clinical investigation, DNA samples were collected and isolated from saliva of 198 patients (49 MZ and 50 DZ twins) with an average age of 9.7 ± 2.7 years. Salivary bacterial microbiota analysis was performed using high throughput amplicon sequencing method targeting V3-V4 region of the 16S rRNA gene. A total of 8,297,859 raw reads corresponding to 41,908 reads per sample were obtained on average. The QIIME2-deblur workflow was used for 16S rRNA amplicon analysis. Microbiome similarity analyses between twins (based on Bray-Curtis dissimilarity, weighted and unweighted Unifrac distances) showed that monozygotic twins share more bacterial microbial content compared to dizygotic twins. This is a large microbial community dataset of MZ and DZ twins with or without dental findings which can be further used for children oral microbiome profile explorations.
Topics: Child; Dental Caries; Humans; Microbiota; Mouth; RNA, Ribosomal, 16S; Saliva; Twins, Dizygotic; Twins, Monozygotic
PubMed: 33051450
DOI: 10.1038/s41597-020-00691-z -
Orthodontics & Craniofacial Research May 2020The aims of this longitudinal analysis of untreated monozygotic and dizygotic twins were to investigate vertical changes of the craniofacial structures during growth, to...
OBJECTIVE
The aims of this longitudinal analysis of untreated monozygotic and dizygotic twins were to investigate vertical changes of the craniofacial structures during growth, to determine the concordance between genetically twins and to assess the genetic component for the various aspects of vertical growth.
SETTINGS AND SAMPLE POPULATION
The sample consisted of 34 pairs of untreated monozygotic twins (23 male, 11 female) and 30 untreated dizygotic siblings of multiple birth (8 male, 8 female and 14 mixed) from the Forsyth Moorrees Twin Study (1959-1975); lateral cephalograms taken from 6 to 18 years of age were analysed at 3-year intervals.
MATERIALS AND METHODS
Cephalograms were traced, and longitudinal changes between twins in six angular and proportional vertical cephalometric variables (SN-NL, ML-NL, SN-ML, y-axis, PFH/AFH and LAFH/AFH) were analysed with intraclass correlation coefficients and linear regression modelling.
RESULTS
The concordance between monozygotic/dizygotic twins at 18 years of age was moderate to high with intraclass correlation coefficient values between 0.51 and 0.66. Additionally, sex differences in concordance at 18 years of age were found for three variables. High heritability (66%-79%) was observed for 5 of the 6 variables (LAFH/AFH, ML-NL, y-axis, SN-ML, PFH/AFH), while SN-NL showed limited heritability (34%).
CONCLUSIONS
Although monozygotic/dizygotic twins share at least part of their genetic material, differences in the vertical dimension were found. This supports the complex developmental mechanism of the human face and the varying influence of genetic and environmental factors.
Topics: Adolescent; Cephalometry; Child; Cohort Studies; Female; Humans; Longitudinal Studies; Male; Twins, Dizygotic; Twins, Monozygotic
PubMed: 31746097
DOI: 10.1111/ocr.12358 -
Environment International Jul 2020Epidemiological studies have linked air pollutant to adverse health effects even at low exposure levels, but limited evidence is available on its associations with gene...
BACKGROUND
Epidemiological studies have linked air pollutant to adverse health effects even at low exposure levels, but limited evidence is available on its associations with gene expression levels.
AIM
To investigate associations between air pollutants and gene expression levels.
METHODS
We collected data from Brisbane System Genetics Study (BSGS) - a family-based system genetics study. Expression levels of candidate genes were obtained for whole blood from 266 pairs of twins (192 monozygotic and 74 dizygotic pairs) and 165 parents. Data on individual phenotypes were also obtained, including age, sex, Body Mass Index and exposure to smoke. Daily data on mean temperature and air pollutants, including particulate matter with aerodynamic diameter ≤2.5 μm (PM), ozone (O), nitrogen dioxide (NO) and sulfur dioxide (SO), were collected from seven monitoring stations for the day when the blood samples were collected. The association between each air pollutant and expression level of each gene was analyzed by using generalized linear models with adjustment for temperature and individual phenotypes, and its difference between monozygotic and dizygotic twins was investigated.
RESULTS
The mean value for daily concentration of air pollutants were 5.9 µg/m for PM, 16.3 ppb for O, 6.5 ppb for NO, and 1.4 ppb for SO, respectively. All air pollutants' levels in Brisbane during our study period were well under the National Air Quality Standard Air pollutant levels. We observed positive associations (false discovery rate [FDR]<0.1) among twins between PM and expression levels of HSPA8 and SOD1 and also between SO and AHR expression level. Negative associations were observed between SO and 11 genes among twins, including AHR, DUSP1, GEMIN4, GPX1, KLF2, PTGS2, TLR4, TNF, TNFRSF1B, TXNRD1, and XBP1, with most of them found at lag 0-7 days (FDR < 0.1). Furthermore, the association between SO and DUSP1 expression level was stronger among monozygotic twins than dizygotic twins (FDR < 0.1). We did not find strong evidence linking air pollutants to gene expression levels among parents.
CONCLUSION
Our findings require confirmation but suggest potential associations of expression levels at several genes with air pollutants at low exposure level and an individual's genetic background modifies the association between SO and DUSP1 gene, which may help bridge the gap of epidemiological studies with both in vivo and in vitro toxicological experiments and provide some insights into the role of nature-nurture of an individual in gene expression response to air pollutants.
Topics: Air Pollutants; Air Pollution; Gene Expression; Nitrogen Dioxide; Ozone; Particulate Matter; Sulfur Dioxide
PubMed: 32248990
DOI: 10.1016/j.envint.2020.105610 -
Journal of Psychiatry & Neuroscience :... May 2020Corticostriatal circuits (CSC) have been implicated in the presentation of some restricted and repetitive behaviours (RRBs) in children with autism-spectrum disorder...
BACKGROUND
Corticostriatal circuits (CSC) have been implicated in the presentation of some restricted and repetitive behaviours (RRBs) in children with autism-spectrum disorder (ASD), and preliminary evidence suggests that disruptions in these pathways may be associated with differences in genetic and environmental influences on brain development. The objective of this investigation was to examine the impact of genetic and environmental factors on CSC regions in twins with and without ASD and to evaluate their relationship with the severity of RRBs.
METHODS
We obtained T1-weighted MRIs from same-sex monozygotic and dizygotic twin pairs, aged 6–15 years. Good-quality data were available from 48 ASD pairs (n = 96 twins; 30 pairs concordant for ASD, 15 monozygotic and 15 dizygotic; 18 pairs discordant for ASD, 4 monozygotic and 14 dizygotic) and 34 typically developing control pairs (n = 68 twins; 20 monozygotic and 14 dizygotic pairs). We generated structural measures of the orbitofrontal cortex (OFC), anterior cingulate cortex (ACC), caudate, putamen, pallidum and thalamus using FreeSurfer. Twin pair comparisons included intraclass correlation analyses and ACE modelling (a2 = additive genetics; c2 = common or shared environment; e2 = unique or nonshared environment). We also assessed correlations with RRB severity.
RESULTS
Structural variation in CSC regions was predominantly genetically mediated in typically developing twins (a2 = 0.56 to 0.87), except for ACC white matter volume (a2 = 0.42, 95% confidence interval [CI] 0.08 to 0.77). We also observed similar magnitudes of genetic influence in twins with ASD (a2 = 0.65 to 0.97), but the cortical thickness of the ACC (c2 = 0.44, 95% CI 0.22 to 0.66) and OFC (c2 = 0.60, 95% CI 0.25 to 0.95) was primarily associated with environmental factors in only twins with ASD. Twin pair differences in OFC grey matter volume were also correlated with RRB severity and were predominantly environmentally mediated.
LIMITATIONS
We obtained MRIs on 2 scanners, and analytical approaches could not identify specific genetic and environmental factors.
CONCLUSION
Genetic factors primarily contribute to structural variation in subcortical CSC regions, regardless of ASD, but environmental factors may exert a greater influence on the development of grey matter thickness in the OFC and ACC in children with ASD. The increased vulnerability of OFC grey matter to environmental influences may also mediate some heterogeneity in RRB severity in children with ASD.
Topics: Adolescent; Autism Spectrum Disorder; Autistic Disorder; Brain; Caudate Nucleus; Child; Female; Gene-Environment Interaction; Globus Pallidus; Gyrus Cinguli; Humans; Magnetic Resonance Imaging; Male; Neostriatum; Neural Pathways; Prefrontal Cortex; Putamen; Stereotyped Behavior; Thalamus; Twins, Dizygotic; Twins, Monozygotic
PubMed: 31603639
DOI: 10.1503/jpn.190030 -
Journal of Child Psychology and... Dec 2022Although polygenic risk scores (PRS) predict psychiatric problems, these associations might be attributable to indirect pathways including population stratification,...
Associations between psychiatric polygenic risk scores and general and specific psychopathology symptoms in childhood and adolescence between and within dizygotic twin pairs.
BACKGROUND
Although polygenic risk scores (PRS) predict psychiatric problems, these associations might be attributable to indirect pathways including population stratification, assortative mating, or dynastic effects (mediation via parental environments). The goal of this study was to examine whether PRS-psychiatric symptom associations were attributable to indirect versus direct pathways.
METHODS
The sample consisted of 3,907 dizygotic (DZ) twin pairs. In childhood, their parents rated them on 98 symptoms. In adolescence (n = 2,393 DZ pairs), both the parents and the twins rated themselves on 20 symptoms. We extracted one general and seven specific factors from the childhood data, and one general and three specific factors from the adolescent data. We then regressed each general factor model onto ten psychiatric PRS simultaneously. We first conducted the regressions between individuals (β) and then within DZ twin pairs (β ), which controls for indirect pathways.
RESULTS
In childhood, the PRS for ADHD predicted general psychopathology (β = 0.09, 95% CI: [0.06, 0.12]; β = 0.07 [0.01, 0.12]). Furthermore, the PRS for ADHD predicted specific inattention (β = 0.04 [0.00, 0.08]; β = 0.09 [0.01, 0.17]) and specific hyperactivity (β = 0.07 [0.04, 0.11]; β = 0.09 [0.01, 0.16]); the PRS for schizophrenia predicted specific learning (β = 0.08 [0.03, 0.13]; β = 0.19 [0.08, 0.30]) and specific inattention problems (β = 0.05 [0.01, 0.09]; β = 0.10 [0.02, 0.19]); and the PRS for neuroticism predicted specific anxiety (β = 0.06 [0.02, 0.10]; β = 0.06 [0.00, 0.12]). Overall, the PRS-general factor associations were similar between individuals and within twin pairs, whereas the PRS-specific factors associations amplified by 84% within pairs.
CONCLUSIONS
This implies that PRS-psychiatric symptom associations did not appear attributable to indirect pathways such as population stratification, assortative mating, or mediation via parental environments. Rather, genetics appeared to directly influence symptomatology.
Topics: Adolescent; Humans; Twins, Dizygotic; Longitudinal Studies; Psychopathology; Mental Disorders; Risk Factors; Attention Deficit Disorder with Hyperactivity
PubMed: 35292971
DOI: 10.1111/jcpp.13605 -
Archives of Disease in Childhood Sep 2020To assess evidence supporting the view that 'low fibre childhood constipation'.
OBJECTIVES
To assess evidence supporting the view that 'low fibre childhood constipation'.
DESIGN
Triangulation integrated three approaches: a systematic review NICE guideline CG99 examining effectiveness of increasing fibre; a cohort study, Avon Longitudinal Study of Parents and Children (ALSPAC), to assess if constipation (or hard stools) can precede fibre intake at weaning; and a literature search for twin studies to calculate heredity.
SETTING
CG99 examined the literature regarding the effectiveness of increasing fibre. ALSPAC asked parents about: hard stools at 4 weeks, 6 months and 2.5 years and constipation at age 4-10 years, as well as fibre intake at 2 years. Twin studies and data from ALSPAC were pooled to calculate concordance of constipation comparing monozygotic and dizygous twin pairs.
PARTICIPANTS
CG99 reported six randomised controlled trials (RCTs). ALSPAC hard stool data from 6796 children at 4 weeks, 9828 at 6 months and 9452 at 2.5 years plus constipation data on 8401 at 4-10 years were compared with fibre intake at 2 years. Twin studies had 338 and 93 twin pairs and ALSPAC added a further 45.
RESULTS
Increasing fibre did not effectively treat constipation. Hard stools at 4 weeks predated fibre and at 6 months predicted lower fibre intake at 2 years (p=0.003). Heredity explained 59% of constipation.
CONCLUSIONS
RCTs indicate that increasing fibre is not an effective treatment for constipation in children. Hard stools can precede and predict later fibre intake. Genetic inheritance explains most childhood constipation. Extended treatment with stool softeners may improve fibre intake and limit long-term damaging sequelae of constipation.
Topics: Adolescent; Child; Child, Preschool; Constipation; Dietary Fiber; Diseases in Twins; Female; Genetic Predisposition to Disease; Humans; Male; Surveys and Questionnaires; Twins, Dizygotic; Twins, Monozygotic
PubMed: 32156695
DOI: 10.1136/archdischild-2019-318082 -
Nutrients Nov 2022This study investigated the contribution of genetic and environmental factors to cardiometabolic diseases (CMDs) by comparing disease concordance in monozygotic and...
Comparison of the Concordance of Cardiometabolic Diseases and Physical and Laboratory Examination Findings between Monozygotic and Dizygotic Korean Adult Twins: A Cross-Sectional Study Using KoGES HTS Data.
This study investigated the contribution of genetic and environmental factors to cardiometabolic diseases (CMDs) by comparing disease concordance in monozygotic and dizygotic twins. This cross-sectional study analyzed 1294 (1040 monozygotic and 254 dizygotic) twin pairs (>20 years) based on the Korean Genome and Epidemiology Study data (2005−2014). The odds ratios of disease concordance were calculated using binomial and multinomial logistic regression models. The occurrence of CMDs (hypertension, hyperlipidemia, type 2 diabetes, cerebral stroke, transient ischemic attack, and ischemic heart disease) and related physical and laboratory levels did not differ between the monozygotic and dizygotic twin groups. The odds for concordance of the presence/absence of CMDs and the likelihood of incident CMD within monozygotic twins were comparable to that of dizygotic twins. The absolute differences in hemoglobin A1c, insulin, low- and high-density lipoprotein cholesterol, total cholesterol, triglycerides, and systolic blood pressure were lower in monozygotic twins than in dizygotic twins. Absolute differences in fasting glucose and diastolic blood pressure did not differ between groups. Although baseline levels of several laboratory parameters related to CMD showed a strong likelihood of heritability in monozygotic twins, CMD phenotype appears to be largely affected by environmental factors.
Topics: Humans; Twins, Dizygotic; Cross-Sectional Studies; Diabetes Mellitus, Type 2; Ischemic Attack, Transient; Cholesterol, HDL; Republic of Korea
PubMed: 36432523
DOI: 10.3390/nu14224834