Spondylarthritis (SpA) is a chronic inflammatory condition that encompasses damage to the axial or peripheral skeleton, accompanied by specific extra-articular symptoms. Within this group, Ankylosing Spondylitis stands out as the hallmark member. Although the heritability of Ankylosing Spondylitis is estimated to be over 95%, only a portion of the heritability has been explained, with HLA-B27 accounting for 20.1% of it; therefore, ongoing research endeavors are currently concentrated on investigating the potential participation of different entities in the development of the disease. Genome-wide association studies have led to significant advances in our understanding of the genetics of SpA. In this descriptive review, we delve into the pathogenesis of Spondylarthritis beyond HLA-B27. We summarize the latest research on the potential participation of various entities in the development of the disease, including other genetic loci, immune dysregulation, microbiota, and environmental factors. The multifactorial nature of SpA and the complex interplay of genetic, immunological, and environmental factors are being increasingly recognized; therefore, it is of paramount importance to consider a holistic approach to comprehend the pathogenesis of SpA in order to identify novel therapeutic targets.

Statistical genetic models of genotype-by-environment (G×E) interaction can be divided into two general classes, one on G×E interaction in response to dichotomous environments (e.g., sex, disease-affection status, or presence/absence of an exposure) and the other in response to continuous environments (e.g., physical activity, nutritional measurements, or continuous socioeconomic measures). Here we develop a novel model to jointly account for dichotomous and continuous environments. We develop the model in terms of a joint genotype-by-sex (for the dichotomous environment) and genotype-by-social determinants of health (SDoH; for the continuous environment). Using this model, we show how a depression variable, as measured by the Beck Depression Inventory-II survey instrument, is not only underlain by genetic effects (as has been reported elsewhere) but is also significantly determined by joint G×Sex and G×SDoH interaction effects. This model has numerous applications leading to potentially transformative research on the genetic and environmental determinants underlying complex diseases.

OBJECTIVE: The current meta-analysis aimed to examine the heritability and familial resemblance of dietary intakes, including energy and macronutrients in both twin and family-based studies.
METHODS: The online literature databases, including PubMed, Scopus, and Web of Science were searched comprehensively until 2023 to identify the relevant studies. The heritability index in family studies was h2 and the heritability indices for twin studies were h2, A2, and E2. Three weighted methods were used to calculate the mean and SE of heritability dietary intakes.
RESULTS: Eighteen papers including 8 studies on familial population and 12 for twin population studies were included in the present meta-analysis. The heritability of dietary intakes in twin studies (range of pooled estimated h2, A2, and E2 was 30-55%, 14-42%, and 52-79%, respectively) was higher than family studies (range of pooled estimated h2 = 16-39%). In family studies, the highest and lowest heritability for various nutrients was observed for the fat (%Kcal) (h2 range:36-38%) and carbohydrate in g (h2 range:16-18%), respectively. In twin studies, based on mean h2, the highest and lowest heritability for various nutrients was reported for the fat (%Kcal) (h2 range:49-55%) and protein intake in g (h2 range:30-35%), respectively. Also, based on the mean of A2, the highest and lowest heritability was observed for carbohydrates (% Kcal) (A2 range:42-42%), and protein (% Kcal) (A2 range:14-16%), respectively. Furthermore, in twin studies, the highest and lowest mean of E2 was shown for saturated fats (E2 range:74-79%) and energy intake (E2 range:52-57%), respectively.
CONCLUSIONS: Our analysis indicated that both environmental factors and genetics have noticeable contributions in determining the heritability of dietary intakes. Also, we observed higher heritability in twins compared to family studies.

Children often show cognitive and affective traits that are similar to their parents. Although this indicates a transmission of phenotypes from parents to children, little is known about the neural underpinnings of that transmission. Here, we provide a general overview of neuroimaging studies that explore the similarity between parents and children in terms of brain structure and function. We notably discuss the aims, designs, and methods of these so-called intergenerational neuroimaging studies, focusing on two main designs: the parent-child design and the multigenerational design. For each design, we also summarize the major findings, identify the sources of variability between studies, and highlight some limitations and future directions. We argue that the lack of consensus in defining the parent-child transmission of brain structure and function leads to measurement heterogeneity, which is a challenge for future studies. Additionally, multigenerational studies often use measures of family resemblance to estimate the proportion of variance attributed to genetic versus environmental factors, though this estimate is likely inflated given the frequent lack of control for shared environment. Nonetheless, intergenerational neuroimaging studies may still have both clinical and theoretical relevance, not because they currently inform about the etiology of neuromarkers, but rather because they may help identify neuromarkers and test hypotheses about neuromarkers coming from more standard neuroimaging designs.

The current study was motivated by an interest in deepening understanding of Brazilian twin research, which is underrepresented internationally, in an effort to rectify this situation. Our aim was threefold: (1) to carry out a comprehensive investigation of Brazilian research on twins according to the area of knowledge; (2) to evaluate the representation of research in the field of psychology in comparison with other areas; (3) to evaluate characteristics of the research that may have contributed to its exclusion from the comprehensive meta-analysis of 50 years of twin research. A scoping review was performed according to PRISMA guidelines. Titles and abstracts were searched up to 2022 in six databases: CAPES, BDLTD, PePSIC, PubMed, Google Scholar, and SciELO, using selected keywords both in Portuguese and in English (e.g., \'twins\' and \'Brazil\'; \'twinning\' and \'Brazil\'; \'gemelaridade\' [twinning], and \'gêmeos\' [twins]). Three hundred and forty publications were included in the review. Approximately half (53.8‰) used the classic twin design to investigate the heritability of several traits, and the other half (46.2%) used other research designs. The scoping review showed that the number of publications doubled approximately every 10 years. Most publications were from the health area, with medicine accounting for approximately half of the studies, followed by psychology, odontology, and biology. We found that the interest in studying twins among Brazilian scientists is increasing over the years and there are reasons to be enthusiastic about the potential impact of this trend in the global scenario.

Childhood eye cancers, although rare, present substantial health challenges, affecting the pediatric population with a remarkable impact on their lives and families. This comprehensive review provides insights into the various types of ocular tumors, primarily focusing on malignant eye tumors, their genetic predispositions, and advancements in managing these conditions. Understanding the genetic risk factors is crucial for early detection, risk assessment, and the development of targeted therapies. This review discusses genome-wide association (GWAS) and next-generation sequencing (NGS) studies to find common and rare genetic variants. Furthermore, it also explores the outcomes and implications of these genetic discoveries in treating pediatric ocular cancer. These findings underscore the significance of genetic research in guiding early interventions and improving outcomes in children with ocular cancers.

Impulsivity is related to a host of mental and behavioral problems. It is a complex construct with many different manifestations, most of which are heritable. The genetic compositions of these impulsivity manifestations, however, remain unclear. A number of genome-wide association studies (GWAS) and post-GWAS analyses have tried to address this issue. We conducted a systematic review of all GWAS and post-GWAS analyses of impulsivity published up to December 2023. Available data suggest that single nucleotide polymorphisms (SNPs) in more than a dozen of genes (e.g., CADM2, CTNNA2, GPM6B) are associated with different measures of impulsivity at genome-wide significant levels. Post-GWAS analyses further show that different measures of impulsivity are subject to different degrees of genetic influence, share few genetic variants, and have divergent genetic overlap with basic personality traits such as extroversion and neuroticism, cognitive ability, psychiatric disorders, substance use, and obesity. These findings shed light on controversies in the conceptualization and measurement of impulsivity, while providing new insights on the underlying mechanisms that yoke impulsivity to psychopathology.

OBJECTIVE: To assess the available evidence to support a genetic contribution and define the role of common and rare variants in tinnitus.
METHODS: After a systematic search and quality assessment, 31 records including 383,063 patients were selected (14 epidemiological studies and 17 genetic association studies). General information on the sample size, age, sex, tinnitus prevalence, severe tinnitus distribution, and sensorineural hearing loss was retrieved. Studies that did not include data on hearing assessment were excluded. Relative frequencies were used for qualitative variables to compare different studies and to obtain average values. Genetic variants and genes were listed and clustered according to their potential role in tinnitus development.
RESULTS: The average prevalence of tinnitus estimated from population-based studies was 26.3% for any tinnitus, and 20% of patients with tinnitus reported it as an annoying symptom. One study has reported population-specific differences in the prevalence of tinnitus, the white ancestry being the population with a higher prevalence. Genome-wide association studies have identified and replicated two common variants in the Chinese population (rs2846071; rs4149577) in the intron of TNFRSF1A, associated with noise-induced tinnitus. Moreover, gene burden analyses in sequencing data from Spanish and Swede patients with severe tinnitus have identified and replicated ANK2, AKAP9, and TSC2 genes.
CONCLUSIONS: The genetic contribution to tinnitus is starting to be revealed and it shows population-specific effects in European and Asian populations. The common allelic variants associated with tinnitus that showed replication are associated with noise-induced tinnitus. Although severe tinnitus has been associated with rare variants with large effect, their role on hearing or hyperacusis has not been established.

OBJECTIVE: To assess the evidence supporting the heritability and genetic basis of sudden sensorineural hearing loss (SSNHL).
METHODS: Records were extracted from PubMed, Scopus, and Cochrane databases.
METHODS: The protocol was registered on PROSPERO (CRD42022357389) and includes a systematic review on the genetic contribution to SSNHL. The search strategy yielded 1.483 articles from electronic databases. After quality assessment, 34 records were selected, including 369.650 patients with SSNHL from nine prevalence studies, two familial aggregation studies, one twin study, and 22 genetic studies. The prevalence of SSNHL was calculated from data on its incidence from population-based studies (period prevalence). To evaluate the heritability of SSNHL, the sibling recurrence risk ratio (λs) was calculated, by comparing the prevalence of SSNHL among siblings within the same generation to the estimated prevalence in the overall population. Genetic variants were grouped, based on the pathological mechanism related to SSNHL.
RESULTS: The prevalence of SSNHL ranged from 0.1% to 0.0003% in America to 0.12%-0.0093% in Asia. The estimated sibling recurrence risk ratio for SSNHL (λs = 20.8-83.3) supports a significant familial aggregation. Although several genetic variants were reported to be associated with SSHL in controlled studies, neither was replicated in an independent cohort.
CONCLUSIONS: Evidence supporting heritability of SSNHL is limited to epidemiological studies showing prevalence differences across different populations and familial aggregation. Genetic studies are of low quality and they lack replication cohort to confirm their findings. According to its low prevalence, exome or genome sequencing familial-based studies are needed to identify rare genetic variants in SSNHL.
METHODS: NA Laryngoscope, 134:3447-3457, 2024.

The genetic basis of dentoalveolar characteristics has been investigated by several studies, however, the findings are equivocal. The objective of this systematic review and meta-analysis was to evaluate the heritability of dental arches and occlusal parameters in different stages of human dentition.
Electronic databases PubMed, Embase, Scopus, Web of Science, and Dentistry and Oral Science Source were searched up to August 2023 without the restriction of language or publication date.
Empirical studies investigating the heritability of dentoalveolar parameters among twins and siblings were included in the review.
Study selection, data extraction, and risk of bias assessment were performed independently and in duplicate by two authors and a third author resolved conflicts if needed. Joanna Briggs Institute\'s critical appraisal tool was used to evaluate the risk of bias among studies and the certainty of evidence was assessed using the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) criteria.
Twenty-eight studies were included in the systematic review, of which 15 studies reporting heritability coefficients in the permanent dentition stages were deemed suitable for the meta-analysis. Random-effects meta-analyses showed high heritability estimates for maxillary intermolar width (0.52), maxillary intercanine width (0.54), mandibular intermolar width (0.55), mandibular intercanine width (0.55), maxillary arch length (0.76), mandibular arch length (0.57), and palatal depth (0.56). The heritability estimates for the occlusal parameters varied considerably, with relatively moderate values for crossbite (0.46) and overbite (0.44) and low values for buccal segment relationship (0.32), overjet (0.22), and rotation and displacement of teeth (0.16). However, the certainty of evidence for most of the outcomes was low according to the GRADE criteria.
Based on the available evidence, it can be concluded that the dental arch dimensions have a high heritability while the occlusal parameters demonstrate a moderate to low heritability.
PROSPERO (CRD42022358442).