Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies

Assisted reproductive technology is a crucial factor that increases the incidence of monozygotic twinning in humans. This article discusses the impact of various indicators in assisted reproductive technology studies on pregnancy outcomes, especially studies with a large number of clinical cases. Furthermore, three rare cases in multiples pregnancy are discussed: fetus papyraceous of a pair of male monozygotic twins in a set of triplets, two pairs of sesquizygotic twins with sex-discordance, and rare conjoined triplets...

Joseph has written what purports to be a refutation of studies of Twins Reared-Apart (TRAs) with a singular focus on the Minnesota Study of Twins Reared-Apart (MISTRA). I show, in detail, that (a) his criticisms of previous TRA studies depend on sources that were discredited prior to MISTRA, as they all failed the test of replicability, (b) the list of biases he uses to invalidate MISTRA do not support his arguments, (c) the accusations of questionable research practices are unsubstantiated, (d) his claim that MISTRA should be evaluated in the context of psychology's replication crisis is refuted...

No abstract text is available yet for this article.

This Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests.In this Statement, the term 'carrier testing' refers to genetic testing in an individual to determine whether they have inherited a pathogenic variant associated with an autosomal or X-linked recessive condition previously identified in a blood relative. Carrier testing recommendations: (1) Carrier testing should only be performed with the individual's knowledge and consent; (2) An individual considering (for themselves, or on behalf of another) whether to have a carrier test should be supported to make an informed decision; (3) The mode of inheritance, the individual's personal experience with the condition, and the healthcare setting in which the test is being performed should be considered when determining whether carrier testing should be offered by a genetic health professional...

The expansion of genetic and genomic testing in clinical practice and research, and the growing market for direct-to-consumer genomic testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or genomic information can be requested by providers of mutually rated insurance products, who may then use it when setting premiums or determining eligibility for cover under a particular product. Australian insurers are subject to relevant legislation and an industry led standard that was updated in 2019 to introduce a moratorium on the use of genetic test results in life insurance underwriting for policies <AU$500K...

This population-based cohort study investigated the prevalence, potential risk factors, and consequences of birth weight discordance (BWD) among same-sex twins. We retrieved data from the automated system of healthcare utilization databases of Lombardy Region, Northern Italy (2007-2021). BWD was defined as 30% or more disparity in birth weights between the larger and the smaller twin. Multivariate logistic regression was used to analyze the risk factors of BWD in deliveries with same-sex twins. In addition, the distribution of several neonatal outcomes was assessed overall and according to BWD level (i...

Almost all creatinine is excreted by the kidney in individuals. Serum creatinine concentration, a widely used renal function index in clinical practice, can be affected by both genetic and environmental factors, as evidenced by current research exploring the relationship between these factors and kidney function. However, few studies have explored the heritability of serum creatinine in Asian populations. Therefore, we explored the genetic and environmental factors that affect the serum creatinine level in Asian populations...

Waardenburg's syndrome involves deafness accompanied by various visual difficulties. The role of twins in identifying this disorder and advancing understanding of its origins and symptoms is described, beginning in 1916 and continuing to the present. This overview is followed by current research on monozygotic (MZ) twins' different dermatoglyphic features, twins with sagittal suture crainosynostosis, blood pressure in female twins, and MZ twins' education and political knowledge. The final section presents media reports describing controversies surrounding twins created by reciprocal in vitro fertilization, reared-apart triplets' limited TV series, abducted twin infants, the Winkelvoss twins' charges by the Securities and Exchange Commission, and going from 'Me' to 'We'...

Whether the decline of birth weight (BW) reported in developed countries in the early 2000s is ongoing remains unknown. Furthermore, despite recent sharp increases in twin births, comparing secular trends of BW between singletons and twins is difficult, as studies have rarely examined secular trends of BW in twins and singletons simultaneously. Therefore, this study aimed to investigate the most recent 20-year trends (2000-2020) of BW in twins and singletons in South Korea. Annual natality files from 2000 to 2020 obtained from the Korean Statistical Information Service were analyzed...

Parkinson's disease (PD) is a complex disorder with a significant genetic component. Genetic variations associated with PD play a crucial role in the disease's inheritance and prognosis. Currently, 31 genes have been linked to PD in the OMIM database, and the number of genes and genetic variations identified is steadily increasing. To establish a robust correlation between phenotype and genotype, it is essential to compare research findings with existing literature. In this study, we aimed to identify genetic variants associated with PD using a targeted gene panel with next-generation sequencing (NGS) technology...

No abstract text is available yet for this article.

Parents' alcohol use is associated with alcohol use of their adolescent offspring, but does this association extend to the adulthood of the offspring? We examined associations of paternal and maternal problem drinking with lifetime problem drinking of their adult offspring prospectively assessed in a population-based Finnish twin-family cohort (FinnTwin16). Problem drinking (Malmö-modified Michigan Alcoholism Screening Test) was self-reported separately by mothers and fathers when their children were 16...

Individual differences in educational attainment (EA) and physical health, as indexed by body mass index (BMI), are correlated within individuals and across generations. The aim of our study was to assess the transmission of these traits from parents to their offspring in childhood and adolescence. We analyzed BMI and EA in 13,916 families from the Netherlands. Data were available for 27,577 parents (mean age 33) and 26,855 of their offspring at 4 and 12 years of age. We employed structural equation modeling to simultaneously estimate the phenotypic transmission of BMI and EA from parents to offspring, the spousal correlations, and the residual child BMI-EA associations after accounting for intergenerational transmission and testing for gender differences therein...

No abstract text is available yet for this article.

Considerable progress continues to be made with regards to the value and use of disease associated polygenic scores (PGS). PGS aim to capture a person's genetic liability to a condition, disease, or a trait, combining information across many risk variants and incorporating their effect sizes. They are already available for clinicians and consumers to order in Australasia. However, debate is ongoing over the readiness of this information for integration into clinical practice and population health. This position statement provides the viewpoint of the Human Genetics Society of Australasia (HGSA) regarding the clinical application of disease-associated PGS in both individual patients and population health...

A model in the form of a Markov chain is constructed to mimic variations in the human sex ratio. It is illustrated by simulation. The equilibrium distribution is shown to be a simple modification of the binomial distribution. This enables an easy calculation of the variation in sex ratio which could be expected in small populations.

The experience of going through the personal library of our late esteemed twin research colleague, Dr Irving I. Gottesman, is described. I came away with fond memories and unexpected treasures. This essay is followed by brief reviews of timely research on factors affecting callous-unemotional traits, depressive symptoms in prospective Chinese twin mothers, twins with sagittal suture craniosynostosis, and creative expressiveness and educational achievement. Media reports on informative topics of interest to researchers and the general public include male-female twin Holocaust survivors, nontuplets born in Mali, Indian twins who married the same man, twins born from the longest frozen embryos, an infant twin abduction and twins born in different years...

Estimated heritability of educational attainment (EA) varies widely, from 23% to 80%, with growing evidence suggesting the degree to which genetic variation contributes to individual differences in EA is highly dependent upon situational factors. We aimed to decompose EA into influences attributable to genetic propensity and to environmental context and their interplay, while considering influences of rearing household economic status (HES) and sex. We use the Project Talent Twin and Sibling Study, drawn from the population-representative cohort of high school students assessed in 1960 and followed through 2014, to ages 68-72...

Reading difficulties are prevalent worldwide, including in economically developed countries, and are associated with low academic achievement and unemployment. Longitudinal studies have identified several early childhood predictors of reading ability, but studies frequently lack genotype data that would enable testing of predictors with heritable influences. The National Child Development Study (NCDS) is a UK birth cohort study containing direct reading skill variables at every data collection wave from age 7 years through to adulthood with a subsample (final n = 6431) for whom modern genotype data are available...

Illicit substance use is dangerous in both acute and chronic forms, frequently resulting in lethal poisoning, addiction, and other negative consequences. Similar to research in other psychiatric conditions, whose ultimate goal is to enable effective prevention and treatment, studies in substance use are focused on factors elevating the risk for the disorder. The rapid growth of the substance use problem despite the effort invested in fighting it, however, suggests the need in changing the research approach...