Related Parents Research Articles

Adolescents Spending Time with Their Parents: Does It Matter?

The current study aims to explore the relevance of ‘time spent with parents’ for different risk behaviors (i.e., alcohol use, smoking, gambling and problematic social media use), peer factors (i.e., time spent with peers, peer pressure and peer support) and parenting behaviors (i.e., control, relatedness and family support). A cross-sectional design was employed, including 2165 adolescents aged from 12 to 18 years (Mage = 14.7, SD = 1.33; 52% girls; 30% in pre-vocational education). Independent sample t-tests were performed to compare different contrasting groups (≤1 h vs. >1 h; ≤2 h vs. >2 h; ≤3 h and >3 h) for relevant outcomes. Results. Adolescents spending on average >1 h per day with their parents in joint activities reported lower levels of risk behavior, less peer pressure, more peer support and more parental control, relatedness and family support. At the same time, this does not seem to come at the expense of spending time with peers, as adolescents spending 1 h or more with their parents did not spend less time with their peers. All the findings point at the relevance of parents spending time and undertaking joint activities with their adolescent children.

Kin selection as a modulator of human handedness: sex-specific, parental and parent-of-origin effects.

The frequency of left-handedness in humans is ~10% worldwide and slightly higher in males than females. Twin and family studies estimate the heritability of human handedness at around 25%. The low but substantial frequency of left-handedness has been suggested to imply negative frequency-dependent selection, e.g. owing to a 'surprise' advantage of left-handers in combat against opponents more used to fighting right-handers. Because such game-theoretic hypotheses involve social interaction, here we perform an analysis of the evolution of handedness based on kin-selection, which is understood to play a major role in the evolution of social behaviour generally. We show that: (1) relatedness modulates the balance of right-handedness vs. left-handedness, according to whether left-handedness is marginally selfish vs. marginally altruistic; (2) sex differences in relatedness to social partners may drive sex differences in handedness; (3) differential relatedness of parents and offspring may generate parent-offspring conflict and sexual conflict leading to the evolution of maternal and paternal genetic effects in relation to handedness; and (4) differential relatedness of maternal-origin vs. paternal-origin genes may generate intragenomic conflict leading to the evolution of parent-of-origin-specific gene effects - such as 'genomic imprinting' - and associated maladaptation.

Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

We examined more than 97,000 families from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents contributing to neurodevelopmental disease risk in children. We identified within- and cross-disorder correlations between six phenotypes in parents and children, such as obsessive-compulsive disorder (R= 0.32-0.38, p<10-126). We also found that measures of sub-clinical autism features in parents are associated with several autism severity measures in children, including biparental mean Social Responsiveness Scale scores and proband Repetitive Behaviors Scale scores (regression coefficient= 0.14, p=3.38×10-4). We further describe patterns of phenotypic similarity between spouses, where spouses show correlations for six neurological and psychiatric phenotypes, including a within-disorder correlation for depression (R= 0.24-0.68, p<0.001) and a cross-disorder correlation between anxiety and bipolar disorder (R= 0.09-0.22, p<10-92). Using a simulated population, we also found that assortative mating can lead to increases in disease liability over generations and the appearance of "genetic anticipation" in families carrying rare variants. We identified several families in a neurodevelopmental disease cohort where the proband inherited multiple rare variants in disease-associated genes from each of their affected parents. We further identified parental relatedness as a risk factor for neurodevelopmental disorders through its inverse relationship with variant pathogenicity and propose that parental relatedness modulates disease risk by increasing genome-wide homozygosity in children (R= 0.05-0.26, p<0.05). Our results highlight the utility of assessing parent phenotypes and genotypes toward predicting features in children who carry rare variably expressive variants and implicate assortative mating as a risk factor for increased disease severity in these families.

Parenting styles and the connection with nature: A look into a nature program

Currently, there seems to be a decline in direct experiences of nature, with a consequent decrease in connection with nature, which could unavoidably result in negative consequences, especially in what concerns children. With the goal of narrowing this ever-growing gap, as well as raising awareness for the importance of outdoor spaces/nature as promoters of development and learning, the Invisible Limits Project (IL) was founded. Thus, the present investigation aimed to better understand the enrollment motives, sociodemographic variables, parenting styles and Nature Relatedness (NR) of parents who enrolled their children in IL, as well as to analyze these same variables and identify parent profiles based on NR and frequency of nature contact, while additionally attempting to ascertain the role of contact with nature as a predictor of NR, all in an effort to rethink and improve existing educational offers. The investigation follows a comparative typology, counting 286 total participants, divided into an experimental group (n=135) - comprised of those who enrolled their children in IL - and a control group (n=151), to which the previous criterion did not apply. For the statistical analysis of the collected data, IBM SPSS Statistics v25, jamovi v1.6, JASP 0.16.1.0 and MaxQDA v2020.4 were used. In what pertains to the results, the main reason for parents to enrol their children in an educational experience in nature was the promotion of contact with nature. Additionally, there were no observable differences between groups, regarding both parenting styles and NR. Concomitantly, frequent contact with nature (both during childhood and throughout life) was determined to be a predictor of a higher NR. In view of the results and in view of the current climate changes, as well as life’s sustainability on the planet, further studies are required, in order to better understand one’s connection with nature.

PA24 Abnormal interferon signature in a patient with chilblain lupus

Abstract A 5-year-old girl of Sri Lankan ancestry with no history of parental relatedness presented with the clinical features of chilblain lupus. This was particularly florid over her dorsal fingers, toes and the soles of her feet with areas in keeping with panniculitis on her calves and an epidermal naevus on the right side of her trunk. There was no ulceration or necrosis. Her parent reported occasional fevers and palpable lymph nodes in her neck. She also has bilateral astigmatism and mild valvular and supravalvular pulmonary stenosis. Blood tests showed a persisting mild transaminitis, an antinuclear antibody of 1 in 160 and a negative double-stranded DNA. She had a skin biopsy that showed supporting features for chilblain lupus. A lymph node biopsy showed nonspecific changes. The clinical suspicion was of a mild form of Aicardi–Goutières syndrome (AGS), and a genetic panel was performed that included TREX1, RNASEH2B, TMEM173 and SAMHD1 (all negative). The common mechanism behind these conditions is a type I interferonopathy. We sent blood on a research basis for RNA extraction and testing of her interferon (IFN) gene signature (IGS), which came back as abnormal (11.895; cutoff score of 2.758); she had normal expression of neutrophil-associated genes. This IFN score is on par with patients who have confirmed AGS or STING-associated vasculopathy with onset in infancy. An IGS is derived from the expression of IFN-regulated genes. A raised IGS has not only been reported to be useful as a biomarker in many rheumatic diseases, but is also used to help identify type I interferonopathies where genetic testing has not identified any clear pathogenic mutations (Crow YJ, Stetson DB. The type I interferonopathies: 10 years on. Nat Rev Immunol 2022; 22:471–83). National Institute for Health and Care Excellence guidelines allow for treatment of interferonopathies with baricitinib in patients with two documented high IFN gene signatures, which is our current plan for this patient.

Repeatability of crossover rate in wild sticklebacks

AbstractCrossovers in meiosis have an important role in sexual reproduction in ensuring the segregation of chromosomes and shuffling of genetic material. Despite their profound importance, little is known about heritability and repeatability of the crossover rate in the wild. We studied crossover rate variation in outbred nine- (Pungitius pungitius) and three-spined (Gasterosteus aculeatus) stickleback populations to estimate its heritability (h2) and repeatability (R). Based on crossover rate interpreted from parent–F1-offspring linkage maps created from single nucleotide polymorphism data, the repeatability of crossover rate was moderate at best, but higher in females (R = 0.24 and R = 0.33) than in males (R = 0.017 and R = 0.11) in both species. Owing to the low degree and variance of parental relatedness and low sample sizes, heritabilities could not be estimated with confidence. However, given that R sets the upper limit to h2, the heritability of crossover rate is indicated to be low in males. A review and comparison with the previously reported repeatability and heritability estimates revealed that the repeatabilities in stickleback females were relatively high, whereas those in males were very low. Collectively, our results and review of earlier estimates suggest low evolvability of the crossover rate.

Inbreeding depression in an outbred stickleback population.

Inbreeding depression refers to the reduced fitness of offspring produced by genetically-related individuals and is expected to be rare in large, outbred populations. When it occurs, marked fitness loss is possible as large populations can carry a substantial load of recessive harmful mutations which are normally sheltered at the heterozygous state. Using experimental cross data and genome-wide identity-by-descent (IBD) relationships from an outbred marine nine-spined stickleback (Pungitius pungitius) population, we documented a significant decrease in offspring survival probability with increasing parental IBD sharing associated with an average inbreeding load (B) of 10.5. Interestingly, we found that this relationship was also underlined by a positive effect of paternal inbreeding coefficient on offspring survival, suggesting that certain combinations of parental inbreeding and genetic relatedness among mates may promote offspring survival. Our results demonstrate the potential for substantial inbreeding load in an outbred population and emphasize the need to consider fine-scale genetic relatedness in future studies of inbreeding depression in the wild.

133. Incidental finding of the 1st degree of parental relatedness in a newborn with JBS and homozygous UBR1 mutation

A 2-month-old newborn girl presented multiple congenital anomalies at birth, including ventriculomegaly, imperforate anus, absent nasal alae, absent corpus callosum, anemia, need for thermoregulation, feeding difficulty and failure to thrive. Clinical features are suggestive of autosomal recessive Johanson-Blizzard syndrome (JBS). Rapid interphase FISH of peripheral blood using centromere probes for X, Y and 18 was normal, and G-banding at 550 band levels showed a normal female karyotype. Whole genome microarray analysis using Affymetrix CytoScan® Dx showed no clinically significant copy number changes. However, the SNP analysis identified 30 regions of homozygosity (ROH)>5 Mb involving 17 autosomes and totaling ∼600 Mb (∼21.6% of ∼2,782 Mb total autosome length); which suggests a 1st degree of parental relatedness (ave. 25%; 95% CI: 21.3-28.7%; PMID: 22858719, 25118026). Such ROHs increase risk for imprinting and/or recessive Mendelian disorders. Noticeably, there was a 74 Mb ROH region in 15q11.2q26.2 encompassing UBR1 gene at 15q15.2, which pointed to possible homozygosity of an UBR1 mutation causing JBS. As expected, Next Generation Sequencing identified a homozygous UBR1 variant at C.1993C>T, exon 17 (UBR1, NM_174916.2), which is predicted to cause a premature protein termination p.(Arg665*). This variant is interpreted pathogenic, as it was reported in a patient with JBS (PMID:24599544) and multiple protein truncating variants were reported to be pathogenic in this gene. These findings supported a diagnosis of JBS in this proband. Our case illustrates that identification of ROHs can aid in investigation and diagnosis of autosomal diseases.

Neolithic genomic data from southern France showcase intensified interactions with hunter-gatherer communities

Archaeological research shows that the dispersal of the Neolithic took a more complex turn when reaching western Europe, painting a contrasted picture of interactions between autochthonous hunter-gatherers (HGs) and incoming farmers. In order to clarify the mode, the intensity, and the regional variability of biological exchanges implied in these processes, we report new palaeogenomic data from Occitanie, a key region in Southern France. Genomic data from 28 individuals originating from six sites spanning from c. 5,500 to c. 2,500 BCE allow us to characterize regional patterns of ancestries throughout the Neolithic period. Results highlight major differences between the Mediterranean and Continental Neolithic expansion routes regarding both migration and interaction processes. High proportions of HG ancestry in both Early and Late Neolithic groups in Southern France support multiple pulses of inter-group gene flow throughout time and space and confirm the need for regional studies to address the complexity of the processes involved.

Molecular characterization and validation of sunflower (Helianthus annuus L.) hybrids through SSR markers.

Genetic purity is a prerequisite for exploiting the potential of hybrids in cross-pollinated crops, such as sunflower. In this regard DNA-based study was conducted using 110 simple sequence repeat (SSR) markers to check the genetic purity of 23 parents and their 60 hybrids in sunflower. The polymorphism was shown in 92 markers with value 83.63%. The SSR markers ORS-453 and CO-306 showed the highest PIC values of 0.76 and 0.74, respectively. The primer ORS-453 amplified allele size of 310 base pairs (bp) for female parent L6 and 320 bp for L11, while for male parents, T1 and T2 had allele size 350 bp and 340 bp, respectively. The hybrids from these parents showed a similar size of alleles with parents, including hybrids L6×T1 (310 bp and 350 bp), L6×T2 (310 bp and 340 bp), and L11×T2 (320 bp and 340 bp). Similarly, the primer CO-306 amplified allele size 350 bp and 330 bp for female parents L6 and L11, respectively, while, allele size 300 bp and 310 bp for male parents T1 and T2, respectively. The hybrids’ allele size was like the parents viz., L6×T1 (350 bp and 300 bp), L6×T2 (350 bp and 310 bp), and L11×T2 (330 bp and 310 bp). All 60 hybrids and their 23 parents were grouped into three main clusters (A, B and C) based upon DARWIN v.6.0 and STRUCTURE v.2.3 Bayesian analyses using genotypic data. Further, each main cluster was divided into two sub-divisions. Each sub-division showed the relatedness of parents and their hybrids, thus authenticating the genetic purity of hybrids. In conclusion, this study provides useful for accurate and effective identification of hybrids, which will help to improve seed genetic purity testing globally.

Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.

Genetically isolated populations that arise due to recent bottleneck events have reduced genetic variation reflecting the common set of founders. Increased genetic relatedness among members of isolated populations puts them at increased risk for some recessive disorders that are rare in outbred populations. To assess the burden on reproductive health, we compared frequencies of adverse reproductive outcomes between Amish couples who were both heterozygous carriers of a highly penetrant pathogenic or likely pathogenic variant and noncarrier couples from the same Amish community. In addition, we evaluated whether overall genetic relatedness of parents was associated with reproductive outcomes. Of the 1824 couples included in our study, 11.1% were at risk of producing a child with an autosomal recessive disorder. Carrier couples reported a lower number of miscarriages compared to noncarrier couples (p=0.02), although the number of stillbirths (p=0.3), live births (p=0.9), and number of pregnancies (p=0.9) did not differ significantly between groups. In contrast, higher overall relatedness between spouses was positively correlated with number of live births (p < 0.0001), pregnancies (p < 0.0001), and stillbirths (p=0.03), although not with the number of miscarriages (p=0.4). These results highlight a complex association between relatedness of parents and reproductive health outcomes in this community.

Fine-scale population structure and demographic history of British Pakistanis

Previous genetic and public health research in the Pakistani population has focused on the role of consanguinity in increasing recessive disease risk, but little is known about its recent population history or the effects of endogamy. Here, we investigate fine-scale population structure, history and consanguinity patterns using genotype chip data from 2,200 British Pakistanis. We reveal strong recent population structure driven by the biraderi social stratification system. We find that all subgroups have had low recent effective population sizes (Ne), with some showing a decrease 15‒20 generations ago that has resulted in extensive identity-by-descent sharing and homozygosity, increasing the risk of recessive disorders. Our results from two orthogonal methods (one using machine learning and the other coalescent-based) suggest that the detailed reporting of parental relatedness for mothers in the cohort under-represents the true levels of consanguinity. These results demonstrate the impact of cultural practices on population structure and genomic diversity in Pakistanis, and have important implications for medical genetic studies.

Informant discrepancies in perceived parental psychological control, adolescent autonomy, and relatedness psychological needs

Framed from Self-Determination Theory and Family Systems Theory, the present multi-informant study sought to contribute to a better understanding of the relations between discrepancies in parents' and adolescents' perceptions of parental psychological control and satisfaction of adolescents' needs for autonomy and relatedness. Participants were 190 Italian intact families in which an adolescent was present (Mage = 16.47 years, SDage = 1.41). Our findings highlighted that: (1) adolescents generally tended to perceive higher levels of psychological control than their parents reported; (2) adolescents tended to rate mothers' psychological control higher than the mothers themselves, whereas adolescent reports of fathers' psychological control were not higher than the fathers' self-reports; (3) the discrepancies between fathers and adolescents in their perceptions of fathers' psychological control were associated with lower levels of satisfaction of the adolescents' need for relatedness, while the discrepancies between mothers and adolescents were associated with lower levels of satisfaction of the adolescents' need for autonomy.

Parental relatedness through time revealed by runs of homozygosity in ancient DNA

Parental relatedness of present-day humans varies substantially across the globe, but little is known about the past. Here we analyze ancient DNA, leveraging that parental relatedness leaves genomic traces in the form of runs of homozygosity. We present an approach to identify such runs in low-coverage ancient DNA data aided by haplotype information from a modern phased reference panel. Simulation and experiments show that this method robustly detects runs of homozygosity longer than 4 centimorgan for ancient individuals with at least 0.3 × coverage. Analyzing genomic data from 1,785 ancient humans who lived in the last 45,000 years, we detect low rates of first cousin or closer unions across most ancient populations. Moreover, we find a marked decay in background parental relatedness co-occurring with or shortly after the advent of sedentary agriculture. We observe this signal, likely linked to increasing local population sizes, across several geographic transects worldwide.

Parentage Analysis in Giant Grouper (Epinephelus lanceolatus) Using Microsatellite and SNP Markers from Genotyping-by-Sequencing Data.

Pedigree information is necessary for the maintenance of diversity for wild and captive populations. Accurate pedigree is determined by molecular marker-based parentage analysis, which may be influenced by the polymorphism and number of markers, integrity of samples, relatedness of parents, or different analysis programs. Here, we described the first development of 208 single nucleotide polymorphisms (SNPs) and 11 microsatellites for giant grouper (Epinephelus lanceolatus) taking advantage of Genotyping-by-sequencing (GBS), and compared the power of SNPs and microsatellites for parentage and relatedness analysis, based on a mixed family composed of 4 candidate females, 4 candidate males and 289 offspring. CERVUS, PAPA and COLONY were used for mutually verification. We found that SNPs had a better potential for relatedness estimation, exclusion of non-parentage and individual identification than microsatellites, and > 98% accuracy of parentage assignment could be achieved by 100 polymorphic SNPs (MAF cut-off < 0.4) or 10 polymorphic microsatellites (mean Ho = 0.821, mean PIC = 0.651). This study provides a reference for the development of molecular markers for parentage analysis taking advantage of next-generation sequencing, and contributes to the molecular breeding, fishery management and population conservation.

Can Knowledge of Genetic Distances, Genome Sizes and Chromosome Numbers Support Breeding Programs in Hardy Geraniums?

Breeding programs in ornamentals can be facilitated by integrating knowledge of phylogenetic relatedness of potential parents along with other genomic information. Using AFLP, genetic distances were determined for 59 Geranium genotypes, comprising 55 commercial cultivars of the three subgenera of a total collection of 61 Geranium genotypes. A subgroup of 45 genotypes, including intragroup and intergroup hybrids, were selected and further characterized for genome sizes and chromosome numbers. The variation in genome size ranged from 1.51 ± 0.01 pg/2C to 12.94 ± 0.07 pg/2C. The chromosome numbers ranged from 26 to 108–110 with some hybrids showing an aberrant number of chromosomes based on their parents’ constitution. All chromosome numbers of Geranium are an even number, which presumes that unreduced gametes occur in some cross combinations. Overall, parental difference in genome size and chromosome number were not limiting for cross compatibility. Good crossing compatibility was correlated to a Jaccard similarity coefficient as parameter for parental relatedness of about 0.5. Additionally, parent combinations with high differences in the DNA/chromosome value could not result in a successful cross. We expect that our results will enable breeding programs to overcome crossing barriers and support further breeding initiatives.

OP334 - Impact of genetic relatedness of parents on reproductive outcomes

OP334 - Impact of genetic relatedness of parents on reproductive outcomes

Parental relatedness and parasitoid sex ratios under local mate competition

AbstractSex ratio theory predicts that, under local mate competition, a more female‐biased offspring sex ratio will be produced by females when their relatedness to their mates is closer. We assess how the sexual composition of broods responds to mother–mate relatedness using Goniozus legneri Gordh (Hymenoptera: Bethylidae), a parasitoid wasp that has biased sex ratios due to local mate competition. Relatedness was varied by providing virgin females with a mate that was either a sibling, a non‐sibling from the same strain, from a strain with geographically similar origin or from a strain with geographically distant origin. The sex ratios among broods produced by mothers that had mated with a sibling or a same‐strain male were similar and were more biased than broods produced by females mated with males from a different strain. Brood sex variances were higher after mating with different‐strain males. Previous evaluations of parasitoid sex ratio responses to mate relatedness have not found the patterns predicted, possibly because the species investigated can control progeny sex ratio but cannot discriminate kin. In contrast, female G. legneri appear to possess both these abilities and appears to respond to mate relatedness in qualitative agreement with theoretical predictions.

Autozygosity mapping and time-to-spontaneous delivery in Norwegian parent-offspring trios.

Parental genetic relatedness may lead to adverse health and fitness outcomes in the offspring. However, the degree to which it affects human delivery timing is unknown. We use genotype data from ≃25 000 parent-offspring trios from the Norwegian Mother, Father and Child Cohort Study to optimize runs of homozygosity (ROH) calling by maximizing the correlation between parental genetic relatedness and offspring ROHs. We then estimate the effect of maternal, paternal and fetal autozygosity and that of autozygosity mapping (common segments and gene burden test) on the timing of spontaneous onset of delivery. The correlation between offspring ROH using a variety of parameters and parental genetic relatedness ranged between −0.2 and 0.6, revealing the importance of the minimum number of genetic variants included in an ROH and the use of genetic distance. The optimized compared to predefined parameters showed a ≃45% higher correlation between parental genetic relatedness and offspring ROH. We found no evidence of an effect of maternal, paternal nor fetal overall autozygosity on spontaneous delivery timing. Yet, through autozygosity mapping, we identified three maternal loci TBC1D1, SIGLECs and EDN1 gene regions reducing the median time-to-spontaneous onset of delivery by ≃2–5% (P-value < 2.3 × 10−6). We also found suggestive evidence of a fetal locus at 3q22.2, near the RYK gene region (P-value = 2.0 × 10−6). Autozygosity mapping may provide new insights on the genetic determinants of delivery timing beyond traditional genome-wide association studies, but particular and rigorous attention should be given to ROH calling parameter selection.

SCREENING SLC2A1 GENE FOR SEQUENCE AND COPY NUMBER VARIATIONS ASSOCİATED WITH GLUT-1 DEFICIENCY SYNDROME

Objective: Glucose transporter-1 deficiency syndrome (GLUT1- DS) is defined as a metabolic encephalopathy that is associated with heterozygous and usually de novo pathogenic variations in the SLC2A1 (solute carrier family2 member1) gene. Materials and Methods: In this study, all coding exons and neighboring intronic regions of SLC2A1 were Sanger sequenced in 12 patients with clinically suspected GLUT1-DS. For de novo variations revealed after sequencing and segregation analysis, we also performed genome wide Single Nucleotide Polymorphism (SNP) genotyping to confirm parental relatedness with the proband. In patients without any sequence variations, real-time quantitative real-time polymerase chain reaction (qPCR) was applied to determine the presence of any copy number variations (CNV). Results: Sanger sequencing followed by bioinformatics analysis, segregation in the family and SNP array genotyping revealed two novel and de novo pathogenic variations associated with the GLUT1-DS phenotype in 2 patients. qPCR results were compatible with one copy loss of SLC2A1 gene in another patient. All variations identified herein are likely to have caused null alleles and resulted in GLUT1-DS through haplo insufficiency. Disscussion: In this study we used a series of molecular genetic approaches in order to identify all possible variations in SLC2A1 that may be associated with GLUT1-DS. This collective effort facilitated diagnosis in 3 patients.