Significant Genetic Influence Research Articles

Functional excitation-inhibition ratio indicates near-critical oscillations across frequencies

Abstract The concept of excitation/inhibition (E/I) balance plays an important role in understanding brain function in health and disease. We recently introduced an algorithm to determine a functional E/I ratio based on the critical brain dynamics that emerge in neuronal networks balancing between order and disorder. Little, however, is known about the frequency specificity of E/I regulation and how to measure it. Here, we optimized the algorithm for measuring functional excitation-inhibition ratio (fE/I) in narrow frequency ranges and validated it on a computational model of critical oscillations and EEG data. In the computational model, we confirmed that fE/I discriminated E/I connectivity differences across a wide range of frequencies (1–150 Hz). Twin EEG data revealed significant genetic influences on fE/I across frequencies, whereas contrasting eyes-open and -closed EEG indicated functional changes of fE/I restricted to a subset of alpha and beta oscillations and brain regions. We propose that assessing fE/I with finer frequency resolution will prove useful for understanding the functional role of E/I regulation in a spectrally refined fashion in health and disease.

Clinical Features, Genetic Landscape and Management of Behçet's Syndrome: A Comprehensive Review

Behçet's syndrome is a systemic inflammatory disorder of unknown origin, presenting with diverse symptoms such as recurrent oral and genital ulcers, skin lesions, and uveitis, and can impact multiple organ systems. Diagnosis relies primarily on clinical evaluation due to the lack of specific diagnostic tests. Management requires a multidisciplinary approach to control inflammation and alleviate symptoms, utilizing treatments like corticosteroids, immunosuppressive agents, and biological therapies. The higher prevalence of Behçet's syndrome along the Silk Road points to significant environmental and genetic influences. Despite progress in understanding its clinical manifestations and treatment options, the underlying mechanisms of the disease remain unclear. Future research is crucial to uncover the disease's pathophysiology and refine treatment strategies, aiming to prevent severe complications such as blindness and neurological impairment. This comprehensive review explores the clinical features, genetic background, and management strategies for Behçet's syndrome, highlighting the potential of precision medicine to improve patient care.

Does HLA explain the high incidence of childhood-onset type 1 diabetes in the Canary Islands? The role of Asp57 DQB1 molecules

The Canary Islands inhabitants, a recently admixed population with significant North African genetic influence, has the highest incidence of childhood-onset type 1 diabetes (T1D) in Spain and one of the highest in Europe. HLA accounts for half of the genetic risk of T1D.AimsTo characterize the classical HLA-DRB1 and HLA-DQB1 alleles in children from Gran Canaria with and without T1D.MethodsWe analyzed classic HLA-DRB1 and HLA-DQB1 alleles in childhood-onset T1D patients (n = 309) and control children without T1D (n = 222) from the island of Gran Canaria. We also analyzed the presence or absence of aspartic acid at position 57 in the HLA-DQB1 gene and arginine at position 52 in the HLA-DQA1 gene. Genotyping of classical HLA-DQB1 and HLA-DRB1 alleles was performed at two-digit resolution using Luminex technology. The chi-square test (or Fisher's exact test) and odds ratio (OR) were computed to assess differences in allele and genotype frequencies between patients and controls. Logistic regression analysis was also used.ResultsMean age at diagnosis of T1D was 7.4 ± 3.6 years (46% female). Mean age of the controls was 7.6 ± 1.1 years (55% female). DRB1*03 (OR = 4.2; p = 2.13–13), DRB1*04 (OR = 6.6; p ≤ 2.00–16), DRB1* 07 (OR = 0.37; p = 9.73–06), DRB1*11 (OR = 0.17; p = 6.72–09), DRB1*12, DRB1*13 (OR = 0.38; p = 1.21–05), DRB1*14 (OR = 0.0; p = 0.0024), DRB1*15 (OR = 0.13; p = 7.78–07) and DRB1*16 (OR = 0.21; p = 0.003) exhibited significant differences in frequency between groups. Among the DQB1* alleles, DQB1*02 (OR: 2.3; p = 5.13–06), DQB1*03 (OR = 1.7; p = 1.89–03), DQB1*05 (OR = 0.64; p = 0.027) and DQB1*06 (OR = 0.19; p = 6.25–14) exhibited significant differences. A total of 58% of the studied HLA-DQB1 genes in our control population lacked aspartic acid at position 57.ConclusionsIn this population, the overall distributions of the HLA-DRB1 and HLA-DQB1 alleles are similar to those in other European populations. However, the frequency of the non-Asp-57 HLA-DQB1 molecules is greater than that in other populations with a lower incidence of T1D. Based on genetic, historical and epidemiological data, we propose that a common genetic background might help explain the elevated pediatric T1D incidence in the Canary Islands, North-Africa and middle eastern countries.

Evaluation on Morphological and Quality Attributes of Mango Cultivars in Western Uttar Pradesh

The study aimed to assess the morpho-economic and biochemical attributes of twelve mango cultivars grown in western Uttar Pradesh, using pooled data from the years 2021-22 and 2022-23 and conducted at Horticulture Research Center of Sardar Vallabhbhai Patel University of Agriculture & Technology, Meerut, the experiment utilized a Randomized Block Design (RBD) with four replications per treatment. The cultivars are regular bearers included Ambika, Pusa Arunima, Dashehari-51, Kesar, Pusa Surya, Amrapali, Mallika, Burma Surakha, Neelum Chausa, Mithua Malda, Rataul and Saurav, all planted in 10-year-old orchards with a spacing of 6x6 meters. The study aimed to evaluate the morpho-economic and biochemical attributes of twelve mango cultivars in western Uttar Pradesh, identify the most suitable cultivars for the region and determine the cultivars with the most marketable fruit traits. Additionally, it sought to assess the genetic diversity among the cultivars for future breeding programs. The results demonstrated significant differences in morpho-economic and quality attributes among the cultivars. Mallika, Pusa Arunima and Amrapali emerged as superior varieties, excelling in tree morpho-economic and quality attributes, while others were classified as moderate. Mallika and Pusa Arunima were identified as the highest-yielding varieties, based on the mean number of fruits per plant and fruit weight over the two-year period. Furthermore, the fruits of Mallika, Pusa Arunima, Amrapali, Rataul and Kesar exhibited the most marketable attributes. The findings underscore the significant genetic and environmental influences on mango attributes. Mallika and Pusa Arunima consistently demonstrated superior performance in yield, fruit quality and biochemical attributes, positioning it as a promising cultivar for the region. The diversity observed among the cultivars highlights the need for targeted selection and management practices to optimize mango production and quality. The study also emphasizes the importance of preserving and conserving these unique genetic resources for future breeding programs aimed at developing new, commercially viable cultivars.

Turning glucosinolate into allelopathic fate: investigating allyl isothiocyanate variability and nitrile formation in eco-friendly Brassica juncea from South Korea

Leaf mustard (Brassica juncea L.) is explored for its biofumigant properties, derived from its secondary metabolites, particularly allyl isothiocyanate (AITC), produced during the enzymatic breakdown of glucosinolates like sinigrin. The research examines eight leaf mustard cultivars developed in Yeosu city, South Korea, focusing on their genetic characteristics, AITC concentration and nitriles formation rates from glucosinolates. Results indicate that the allelopathic effects, largely dependent on AITC concentration and enzymatic activity, vary across cultivar. Sinigrin and AITC constitute 79% and 36%, respectively, of glucosinolate and its hydrolysis products. The cultivar 'Nuttongii' demonstrates significant potential for inhibiting weeds, exhibiting the highest AITC concentration at 27.47 ± 6.46 µmole g−1 These outcomes highlight the importance of selecting mustard cultivars for biofumigation based on their glucosinolate profiles and hydrolysis product yields. The study also identifies a significant genetic influence on AITC and nitrile formation, suggesting that epithiospecifier protein modulation could enhance both allelopathic and other beneficial effects. Collectively, the research underscores the promise of mustard as a sustainable, environmentally friendly alternative to traditional herbicides.

The Chromatin Organization Close to SNP rs12913832, Involved in Eye Color Variation, Is Evolutionary Conserved in Vertebrates.

The most significant genetic influence on eye color pigmentation is attributed to the intronic SNP rs12913832 in the HERC2 gene, which interacts with the promoter region of the contiguous OCA2 gene. This interaction, through the formation of a chromatin loop, modulates the transcriptional activity of OCA2, directly affecting eye color pigmentation. Recent advancements in technology have elucidated the precise spatial organization of the genome within the cell nucleus, with chromatin architecture playing a pivotal role in regulating various genome functions. In this study, we investigated the organization of the chromatin close to the HERC2/OCA2 locus in human lymphocyte nuclei using fluorescence in situ hybridization (FISH) and high-throughput chromosome conformation capture (Hi-C) data. The 3 Mb of genomic DNA that belonged to the chromosomal region 15q12-q13.1 revealed the presence of three contiguous chromatin loops, which exhibited a different level of compaction depending on the presence of the A or G allele in the SNP rs12913832. Moreover, the analysis of the genomic organization of the genes has demonstrated that this chromosomal region is evolutionarily highly conserved, as evidenced by the analysis of syntenic regions in species from other Vertebrate classes. Thus, the role of rs12913832 variant is relevant not only in determining the transcriptional activation of the OCA2 gene but also in the chromatin compaction of a larger region, underscoring the critical role of chromatin organization in the proper regulation of the involved genes. It is crucial to consider the broader implications of this finding, especially regarding the potential regulatory role of similar polymorphisms located within intronic regions, which do not influence the same gene by modulating the splicing process, but they regulate the expression of adjacent genes. Therefore, caution should be exercised when utilizing whole-exome sequencing for diagnostic purposes, as intron sequences may provide valuable gene regulation information on the region where they reside. Thus, future research efforts should also be directed towards gaining a deeper understanding of the precise mechanisms underlying the role and mode of action of intronic SNPs in chromatin loop organization and transcriptional regulation.

Familial genetic and environmental transmission of depression: A multi-informant twin family study.

The phenomenon of familial clustering in depression is well established, yet the mechanisms by which depression is transmitted within families remain poorly understood. In the current study, we investigate the familial genetic and environmental transmission of depression by incorporating data from both adolescent twins and their parents. A total of 987 twin families were recruited from the Beijing Twin Study. Depression assessments were conducted for both adolescents and their parents. Twins' depression was assessed through reports from both the twins themselves and their parents, while parental depression was assessed by parental self-report. We employed a nuclear twin family model to examine genetic and environmental influences on adolescent depression. Our results, based on both self- and parent-report, demonstrate significant additive and dominant genetic influences on depression. We also found mild yet significant sibling environmental influences, while familial environmental influences were absent. Notably, parent-reported depression showed higher heritability but lower unique environmental influences compared with self-reported depression. These results highlight the important role of genetic transmission and sibling environmental transmission in explaining depression. Our study delineates the underlying mechanism of familial transmission in depression and can inform early treatments to halt transmission during adolescence.

A common regulatory haplotype doubles lactoferrin concentration in milk

BackgroundBovine lactoferrin (Lf) is an iron absorbing whey protein with antibacterial, antiviral, and antifungal activity. Lactoferrin is economically valuable and has an extremely variable concentration in milk, partly driven by environmental influences such as milking frequency, involution, or mastitis. A significant genetic influence has also been previously observed to regulate lactoferrin content in milk. Here, we conducted genetic mapping of lactoferrin protein concentration in conjunction with RNA-seq, ChIP-seq, and ATAC-seq data to pinpoint candidate causative variants that regulate lactoferrin concentrations in milk.ResultsWe identified a highly-significant lactoferrin protein quantitative trait locus (pQTL), as well as a cislactotransferrin (LTF) expression QTL (cis-eQTL) mapping to the LTF locus. Using ChIP-seq and ATAC-seq datasets representing lactating mammary tissue samples, we also report a number of regions where the openness of chromatin is under genetic influence. Several of these also show highly significant QTL with genetic signatures similar to those highlighted through pQTL and eQTL analysis. By performing correlation analysis between these QTL, we revealed an ATAC-seq peak in the putative promotor region of LTF, that highlights a set of 115 high-frequency variants that are potentially responsible for these effects. One of the 115 variants (rs110000337), which maps within the ATAC-seq peak, was predicted to alter binding sites of transcription factors known to be involved in lactation-related pathways.ConclusionsHere, we report a regulatory haplotype of 115 variants with conspicuously large impacts on milk lactoferrin concentration. These findings could enable the selection of animals for high-producing specialist herds.

An overview of the worldwide distribution of LRRK2 mutations in Parkinson's disease.

Parkinson's disease (PD) is a neurodegenerative disorder with significant genetic influence. The LRRK2 gene is a major genetic contributor, particularly the Gly2019Ser mutation. This focused review investigates the global distribution of LRRK2 mutations, with emphasis on Gly2019Ser and other pathogenic variants. Prevalence rates of Gly2019Ser are highest in North Africa and the Ashkenazi-Jewish population, indicating a potential common ancestor and founder effect. Other LRRK2 mutations, including Asn1437His, Arg1441Gly/Cys/His, Tyr1699Cysand Ile2020Thr, exhibit varying global prevalences. Understanding these distributions enhances our knowledge of PD genetics and aids personalized medicine. Further research is crucial to unravel clinical implications and develop targeted therapies for LRRK2 mutation carriers.

A Twin Analysis of AD Brain Signatures and Abnormal White Matter

AbstractBackgroundAlzheimer’s disease (AD) and vascular disease frequently co‐occur and may interact additively or synergistically on risk for cognitive decline, though the degree of shared overlap between these pathologies remains unclear. Our group has demonstrated the utility of AD signatures, or composite MRI metrics in brain regions associated with AD pathology, for prediction of AD‐related changes beginning in midlife. Our novel signature based on gray matter mean diffusivity (MD) aided 12‐year prediction of incident mild cognitive impairment among cognitively unimpaired adults in their 50s, captured unique phenotypic and genetic variance not otherwise explained by an AD signature based on cortical thickness/volume or general brain aging, and robustly predicted thickness/volume signatures over a decade later. Here, we leveraged twin data from the Vietnam Era Twin Study of Aging (VETSA) to delineate shared and unique genetic and environmental influences on two AD signatures and white matter hyperintensities (WMHs), which have been consistently linked to vascular origin.MethodParticipants were 512 men from the VETSA (age = 67.52, SD = 2.60). Our validated thickness/volume signature, novel MD signature based on the same brain regions as the thickness/volume signature, and WMH volume were used in biometrical twin analyses to examine their phenotypic, genetic, and environmental relationships. We adjusted each AD signature for an MRI‐based measure of brain age to detect associations with WMH that were specific to AD‐related brain regions versus general brain aging. We also examined regional WMH parcellations.ResultPhenotypic and genetic correlations demonstrated significant associations between the MD signature and WMH (rp = 0.26 [95% CI: 0.15, 0.36]; rg = 0.34 [95% CI: 0.10, 0.57]). In contrast, phenotypic and genetic correlations between the thickness/volume signature and WMHs were nonsignificant. Environmental correlations between each AD signature and WMH were similarly nonsignificant. Results were similar for each WMH parcellation, suggesting global WMH effects.ConclusionA gray matter MD signature and WMHs share significant genetic influences, whereas a thickness/volume signature was not associated with WMHs. AD signatures based on brain microstructure, such as the MD signature, may capture very early AD‐related and vascular‐related changes that are not captured by a macrostructural signature at the same timepoint.

A Twin Analysis of AD Brain Signatures and Abnormal White Matter

AbstractBackgroundAlzheimer’s disease (AD) and vascular disease frequently co‐occur and may interact additively or synergistically on risk for cognitive decline, though the degree of shared overlap between these pathologies remains unclear. Our group has demonstrated the utility of AD signatures, or composite MRI metrics in brain regions associated with AD pathology, for prediction of AD‐related changes beginning in midlife. Our novel signature based on gray matter mean diffusivity (MD) aided 12‐year prediction of incident mild cognitive impairment among cognitively unimpaired adults in their 50s, captured unique phenotypic and genetic variance not otherwise explained by an AD signature based on cortical thickness/volume or general brain aging, and robustly predicted thickness/volume signatures over a decade later. Here, we leveraged twin data from the Vietnam Era Twin Study of Aging (VETSA) to delineate shared and unique genetic and environmental influences on two AD signatures and white matter hyperintensities (WMHs), which have been consistently linked to vascular origin.MethodParticipants were 512 men from the VETSA (age = 67.52, SD = 2.60). Our validated thickness/volume signature, novel MD signature based on the same brain regions as the thickness/volume signature, and WMH volume were used in biometrical twin analyses to examine their phenotypic, genetic, and environmental relationships. We adjusted each AD signature for an MRI‐based measure of brain age to detect associations with WMH that were specific to AD‐related brain regions versus general brain aging. We also examined regional WMH parcellations.ResultPhenotypic and genetic correlations demonstrated significant associations between the MD signature and WMH (rp = 0.26 [95% CI: 0.15, 0.36]; rg = 0.34 [95% CI: 0.10, 0.57]). In contrast, phenotypic and genetic correlations between the thickness/volume signature and WMHs were nonsignificant. Environmental correlations between each AD signature and WMH were similarly nonsignificant. Results were similar for each WMH parcellation, suggesting global WMH effects.ConclusionA gray matter MD signature and WMHs share significant genetic influences, whereas a thickness/volume signature was not associated with WMHs. AD signatures based on brain microstructure, such as the MD signature, may capture very early AD‐related and vascular‐related changes that are not captured by a macrostructural signature at the same timepoint.

Intergenerational concordance of brain structure between depressed mothers and their never-depressed daughters

IntroductionParents have significant genetic and environmental influences, which are known as intergenerational effects, on the cognition, behavior, and brain of their offspring. These intergenerational effects are observed in patients with mood disorders, with a particularly strong association of depression between mothers and daughters.ObjectivesThe main purpose of our study was to investigate female-specific intergenerational transmission patterns in the human brain among patients with depression and their never-depressed offspring.MethodsWe recruited 78 participants from 34 families, which included remitted parents with a history of depression and their never-depressed biological offspring. We used source-based and surface-based morphometry analyses of magnetic resonance imaging data to examine the degree of associations in brain structure between four types of parent-offspring dyads (i.e. mother-daughter, mother-son, father-daughter, and father-son).ResultsUsing independent component analysis, we found a significant positive correlation of gray matter structure between exclusively the mother-daughter dyads within brain regions located in the default mode and central executive networks, such as the bilateral anterior cingulate cortex, posterior cingulate cortex, precuneus, middle frontal gyrus, middle temporal gyrus, superior parietal lobule, and left angular gyrus. These similar observations were not identified in other three parent-offspring dyads.ConclusionsThe current study provides biological evidence for greater vulnerability of daughters, but not sons, in developing depression whose mothers have a history of depression. Our findings extend our knowledge on the pathophysiology of major psychiatric conditions that show sex biases and may contribute to the development of novel interventions targeting high-risk individuals.Disclosure of InterestNone Declared

Intergenerational concordance of brain structure between depressed mothers and their never-depressed daughters.

Parents have significant genetic and environmental influences, which are known as intergenerational effects, on the cognition, behavior, and brain of their offspring. These intergenerational effects are observed in patients with mood disorders, with a particularly strong association of depression between mothers and daughters. The main purpose of our study was to investigate female-specific intergenerational transmission patterns in the human brain among patients with depression and their never-depressed offspring. We recruited 78 participants from 34 families, which included remitted parents with a history of depression and their never-depressed biological offspring. We used source-based and surface-based morphometry analyses of magnetic resonance imaging data to examine the degree of associations in brain structure between four types of parent-offspring dyads (i.e. mother-daughter, mother-son, father-daughter, and father-son). Using independent component analysis, we found a significant positive correlation of gray matter structure between exclusively the mother-daughter dyads within brain regions located in the default mode and central executive networks, such as the bilateral anterior cingulate cortex, posterior cingulate cortex, precuneus, middle frontal gyrus, middle temporal gyrus, superior parietal lobule, and left angular gyrus. These similar observations were not identified in other three parent-offspring dyads. The current study provides biological evidence for greater vulnerability of daughters, but not sons, in developing depression whose mothers have a history of depression. Our findings extend our knowledge on the pathophysiology of major psychiatric conditions that show sex biases and may contribute to the development of novel interventions targeting high-risk individuals.

Burden of Type 2 Diabetes and Associated Cardiometabolic Traits and Their Heritability Estimates in Endogamous Ethnic Groups of India: Findings From the INDIGENIUS Consortium.

To assess the burden of type 2 diabetes (T2D) and its genetic profile in endogamous populations of India given the paucity of data, we aimed to determine the prevalence of T2D and estimate its heritability using family-based cohorts from three distinct Endogamous Ethnic Groups (EEGs) representing Northern (Rajasthan [Agarwals: AG]) and Southern (Tamil Nadu [Chettiars: CH] and Andhra Pradesh [Reddys: RE]) states of India. For comparison, family-based data collected previously from another North Indian Punjabi Sikh (SI) EEG was used. In addition, we examined various T2D-related cardiometabolic traits and determined their heritabilities. These studies were conducted as part of the Indian Diabetes Genetic Studies in collaboration with US (INDIGENIUS) Consortium. The pedigree, demographic, phenotypic, covariate data and samples were collected from the CH, AG, and RE EEGs. The status of T2D was defined by ADA guidelines (fasting glucose ≥ 126 mg/dl or HbA1c ≥ 6.5% and/or use of diabetes medication/history). The prevalence of T2D in CH (N = 517, families = 21, mean age = 47y, mean BMI = 27), AG (N = 530, Families = 25, mean age = 43y, mean BMI = 27), and RE (N = 500, Families = 22, mean age = 46y, mean BMI = 27) was found to be 33%, 37%, and 36%, respectively, Also, the study participants from these EEGs were found to be at increased cardiometabolic risk (e.g., obesity and prediabetes). Similar characteristics for the SI EEG (N = 1,260, Families = 324, Age = 51y, BMI = 27, T2D = 75%) were obtained previously. We used the variance components approach to carry out genetic analyses after adjusting for covariate effects. The heritability (h2) estimates of T2D in the CH, RE, SI, and AG were found to be 30%, 46%, 54%, and 82% respectively, and statistically significant (P ≤ 0.05). Other T2D related traits (e.g., BMI, lipids, blood pressure) in AG, CH, and RE EEGs exhibited strong additive genetic influences (h2 range: 17% [triglycerides/AG and hs-CRP/RE] - 86% [glucose/non-T2D/AG]). Our findings highlight the high burden of T2D in Indian EEGs with significant and differential additive genetic influences on T2D and related traits.

Radius morphology variation in an adult South African cadaveric sample.

Sex estimation is a vital first step in developing a biological profile, and is usually metrically or morphoscopically assessed. Geometric morphometric analyses allow re-evaluation of both size and shape variation of skeletal elements, and more meaningful comparisons of sexual dimorphism of different ancestry groups. Additionally, it has shown that some postcranial bones may be more useful for ancestry estimation than previously thought. Geometric morphometric analysis was performed on the radii of 1049 South African individuals (417 females, 578 males) of the country's three largest ancestry groups to assess morphological variation according to sex and ancestry. Three-dimensional landmark datasets of radii were superimposed and scaled to a common centroid size using Generalized Procrustes Analysis. Mean centroid sizes of groups were compared using parametric statistics. Morphological variation was assessed using Discriminant Function Analysis, coupled with leave-one-out cross-validation to assess accuracies of sex and ancestry estimation. Covariation with size, age and year-of-birth were assessed through regression analysis. Male radii were larger and more robust than those of females, as generally observed following secondary sexual development. Black individuals had absolutely larger radii but more gracile morphologies, White individuals had both absolutely and proportionately larger radii, and Mixed individuals had the smallest radii but with similar robust morphologies as White individuals. Similar differences were also detected when variation was assessed according to sex and ancestry combined. Covariation was detected with size, age and year-of-birth. Differences between groups were sufficient to allow 70.9% classification accuracy of sex, 80.6% for ancestry, and 77.2% for sex and ancestry combined. These results show that postcranial bones like the radius show sufficient morphological variation to allow some accuracy in the estimation of sex, though variation between population groups tends to overshadow this variation, even when sex and ancestry are simultaneously considered. The greater ancestry variation allows for relatively good accuracies in estimation, even for highly heterogeneous South African groups that are subject to significant genetic and environmental influences.

Australian Parkinson’s Genetics Study (APGS): pilot (n=1532)

PurposeParkinson’s disease (PD) is a neurodegenerative disorder associated with progressive disability. While the precise aetiology is unknown, there is evidence of significant genetic and environmental influences on individual risk. The...

Clinical and socioenvironmental characterizations associated with the genealogical analysis of a group of Dominican patients with nonsyndromic cleft lip with or without cleft palate

AbstractIntroduction and AimIn the Dominican Republic, there is an important number of individuals affected by nonsyndromic cleft lip with or without cleft palate (NS CL/P); in the search for the etiology, this study sought to determine the inheritance pattern of NS CL/P and to establish possible associations with clinical and socioenvironmental characteristics in a group of affected patients.Materials and MethodsThe type of cleft was characterized according to the general phenotypic category, the family trees were built according to Bennett et al. (2008, 10.1007/s10897‐008‐9169‐9), the socioenvironmental factors analyzed were tobacco consumption, alcohol, and radiation exposure.ResultsSeventy‐eight patients were analyzed, among whom severe phenotypes were more prevalent, including complete cleft lip and palate (CLP) (61.53%) and bilateral clefts (64%). In the analysis of genealogies, it was determined that 81.5% of the families were sporadic cases, 12.3% were autosomal dominant inheritance, and 6.2% were presented with a multifactorial inheritance. The consumption of alcohol was the most common socioenvironmental factor. There were no reports on the evaluated socioenvironmental factors in cases where heredity was determined as autosomal dominant. No inbred relationships were observed.ConclusionThere were diverse inheritance models for NS CL/P in patients from the Dominican Republic. Sporadic cases constituted the most frequent condition, followed by the existing families with autosomal dominance, and multifactorial inheritance. The absence of socioenvironmental factors commonly associated with pathology in families with autosomal dominant inheritance supports the hypothesis of a more significant genetic influence in this type of inheritance.

The winding roads to adulthood: A twin study.

Here we report the results of the first systematic investigation of genetic and environmental influences on 57 psychological traits covering major issues in emerging adulthood such as aspirations, thoughts and attitudes, relationships and personality. We also investigate how these traits relate to physical and mental health, educational attainment and wellbeing. We use a sample of nearly 5000 pairs of UK twins aged 21-25 from the Twins Early Development Study. We included 57 measures of traits selected to represent issues in emerging adulthood (EA) such as aspirations, thoughts and attitudes, life events, relationships, sexual and health behaviour and personality. We also included measures related to what are often considered to be the core functional outcomes even though here we refer to the data collected at the same time: adverse physical health, adverse mental health, wellbeing, and education. All 57 traits showed significant genetic influence, with an average heritability of 34% (SNP heritability ~10%). Most of the variance (59% on average) was explained by non-shared environmental influences. These diverse traits were associated with mental health (average correlation 0.20), wellbeing (0.16), physical health (0.12) and educational attainment (0.06). Shared genetic factors explained the majority of these correlations (~50%). Together, these emerging adulthood traits explained on average 30% of variance in the outcomes (range = 8% to 69%), suggesting that these traits relate to the outcomes additively. We conclude that even as the majority of individual differences in EA traits is explained by non-shared environmental factors, genetic influence on these traits is still substantial; the environmental uncertainties of emerging adulthood in the 21st century do not diminish the importance of genetics. As adolescents travel down long and winding roads to adulthood, their trip is substantially influenced by genetic proclivities that nudge them down different paths leading to different destinations.

The genetic and environmental interaction behind malocclusion: Case report of two twins

Background: Genetic and environmental contribution in the etiology and shape of malocclusion has long been a controversy for the authors. In fact, even though craniofacial deformations are the result of both genetic and environmental factors, there is irrefutable evidence for the high genetic control on craniofacial development and for the significant genetic influence in many dental, occlusal and skeletal variables. The aim of this twin’s case report is to clinically show the role of each of these two factors on the expression of abnormalities and particular traits. Case presentation: The case reflect 10-year-old twins who consulted for their anterior overlap. The comparison between the twins is done through clinical and cephalometric investigation. The clinical examination revealed a great resemblance between the two patients both at the extra-oral (ortho-frontal profil, nasolabial angle, the shape of the forehead, cervico-chin distance) and intra-oral view (Palato- position of the maxillary lateral incisors, molar class I, mandibular arch perfectly identical with mirror effect), Cephalometric analysis revealed a very high morphological similarity (identical skeletal class III, biproalveolia, hyperdivergenc and the position of mandibular incisor). Conclusion: The existence of a very important genetic control on craniofacial development and the installation of dysmorphosis is undeniable, in particular on skeletal class III and hyperdivergence. But the severity of these dysmorphosis can also be increased by environmental and behavioral factors.

Integrated Approach to Olive Oil Characteristics of Some Cultivar Candidates from Nutritional, Oxidative Stability and Sensory Perspective for Advanced Selection of Cross Breeding

This is the first study evaluated oil characteristic of 23 olive cultivar candidates, which obtained by cross breeding and later selection among 492 olive genotypes. In this research, oil characteristics such as alfa tocopherol, total phenol, antioxidant activity, oxidative stability and sensory analysis were determined. Olive oils of standard ‘Gemlik’ and ‘Ayvalik’ cultivars were also included analysis to compare candidates. Significant genetic influence was determined on nutritional, oxidative stability and sensory characteristics of oils. Oils of GT009, LE003 and LT019 genotypes had highest both total phenol content and antioxidant activity so that they had remarkable characters from nutritional physiology perspective. GE363 showed longest induction time and LE003, GE417 and GE363 showed longest shelf life. Highest alpha tocopherol content was determined in oils of BK013 and ‘Gemlik’ olives. According to sensory evaluation, oil of GU429 was classified as well balanced oil and oils of GE067, GE110, GE366, GU247, GU320, GU323 and GU434 classified as mild oil. These results will be used to give decision for their final selection and register the selected best cultivar candidates.