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Biomedical subjects

Frank M Spinath

Publications and source records attributed to Frank M Spinath.

17 recordsLinked to original sources

An Updated Polygenic Index Repository: Expanded Phenotypes, New Cohorts, and Improved Causal Inference.

Polygenic indexes (PGIs) - DNA-based predictors of individual phenotypes - have become essential tools across biomedical and social sciences. We introduce Version 2 of the Polygenic Index Repository, which expands phenotype coverage from 47 to 61, increases the number of participating datasets from 11 to 20, and adopts a more consistent and improved methodology for PGI construction. For 16 phenotypes, we leverage summary statistics from an updated GWAS meta-analysis with greater statistical power compared to the original release, thereby improving the PGI's predictive power. To improve power for family-based analyses, we provide imputed parental PGIs in all datasets with first-degree relatives and offer a framework for interpreting results from analyses that control for parental PGIs. We illustrate the utility of parental PGIs using two applications: (1) comparing PGI associations with and without parental PGI controls for all phenotypes in two Repository datasets with family data, and (2) for BMI and diastolic blood pressure, exploring the contribution of causal versus non-causal components of PGI associations to the imperfect portability of PGIs across subgroups within a genetic ancestry. Collectively, the updates enhance predictive performance, broaden the Repository's scope, and introduce novel resources that reduce confounding bias and improve interpretability.

Journal Article↗

Is the genetic structure of human personality universal? A cross-cultural twin study from North America, Europe, and Asia.

This study examined whether universality of the 5-factor model (FFM) of personality operationalized by the Revised NEO Personality Inventory is due to genetic influences that are invariant across diverse nations. Factor analyses were conducted on matrices of phenotypic, genetic, and environmental correlations estimated in a sample of 1,209 monozygotic and 701 dizygotic twin pairs from Canada, Germany, and Japan. Five genetic and environmental factors were extracted for each sample. High congruence coefficients were observed when phenotypic, genetic, and environmental factors were compared in each sample as well as when each factor was compared across samples. These results suggest that the FFM has a solid biological basis and may represent a common heritage of the human species.

Canada↗

Genetics of intelligence.

This article provides an overview of the biometric and molecular genetic studies of human psychometric intelligence. In the biometric research, special attention is given to the environmental and genetic contributions to specific and general cognitive ability differences, and how these differ from early childhood to old age. Special mention is also made of multivariate studies that examine the genetic correlation between intelligence test scores and their correlates such as processing speed, birth weight and brain size. After an overview of candidate gene associations with intelligence test scores, there is a discussion of whole-genome linkage and association studies, the first of which have only recently appeared.

Age Factors↗

Genetic and environmental influences on Person x Situation profiles.

Genetic and environmental influences on Person x Situation interactions were studied using data of the German Observational Study of Adult Twins. The performance of 168 monozygotic and 132 dizygotic twin pairs in 15 tasks was observed by 120 judges who never met the twins in person. Four judges observed one twin of each pair in one task. Twin similarities in Person x Situation profiles were analyzed via (a) correlations across tasks between co-twins' Person x Situation profiles (their personality signatures) and (b) common-pathway genetic models that partitioned genetic and environmental contributions to trait levels and to Person x Situation interactions. Genes accounted for about 25% of the reliable Person x Situation interactions, whereas shared environmental influences were negligible.

Adolescent↗

Genetic influences on early word recognition abilities and disabilities: a study of 7-year-old twins.

BACKGROUND: A fundamental issue for child psychology concerns the origins of individual differences in early reading development. METHOD: A measure of word recognition, the Test of Word Reading Efficiency (TOWRE), was administered by telephone to a representative population sample of 3,909 same-sex and opposite-sex pairs of 7-year-old twins. Analyses allowing for sex differences in aetiology were used to estimate the extent to which genetic and environmental influences contribute to normal variation in word recognition and word recognition difficulties, defined by scores below the 5th and 10th percentiles of the unselected sample. RESULTS: Both normal variation in word recognition and impaired word recognition abilities were substantially heritable (h2 = .65-.67; h(g)2 = .37-.72). Environmental influences were primarily shared between twins, rather than specific to each individual, and small to moderate in magnitude. There was evidence for qualitative sex differences. Quantitative sex differences were also suggested at the extremes, with genetic influences being more important as a cause of reading difficulties in boys than in girls. CONCLUSIONS: These findings indicate that early individual differences and impairments in word recognition are principally influenced by genetic factors and may involve partly distinct genetic or environmental effects in boys and girls. Crucially, they also provide evidence that reading impairments are linked genetically to the normal distribution. Genetic risk for early impairments in word recognition is continuous rather than discrete.

Child↗

Intelligence: genetics, genes, and genomics.

More is known about the genetics of intelligence than about any other trait, behavioral or biological, which is selectively reviewed in this article. Two of the most interesting genetic findings are that heritability of intelligence increases throughout the life span and that the same genes affect diverse cognitive abilities. The most exciting direction for genetic research on intelligence is to harness the power of the Human Genome Project to identify some of the specific genes responsible for the heritability of intelligence. The next research direction will be functional genomics--for example, understanding the brain pathways between genes and intelligence. Deoxyribonucleic acid (DNA) will integrate life sciences research on intelligence; bottom-up molecular biological research will meet top-down psychological research in the brain.

Adolescent↗

Thin slices of behavior as cues of personality and intelligence.

Self-reports, peer reports, intelligence tests, and ratings of personality and intelligence from 15 videotaped episodes were collected for 600 participants. The average cross-situational consistency of trait impressions across the 15 episodes was .43. Shared stereotypes related to gender and age were mostly accurate and contributed little to agreement among judges. Agreement was limited mainly by nonshared meaning systems and by nonoverlapping information. Personality inferences from thin slices of behavior were significantly associated with reports by knowledgeable informants. This association became stronger when more episodes were included, but gains in prediction were low beyond 6 episodes. Inferences of intelligence from thin slices of behavior strongly predicted intelligence test scores. A particularly strong single predictor was how persons read short sentences.

Adult↗

Genetic and environmental influence on language impairment in 4-year-old same-sex and opposite-sex twins.

BACKGROUND: We investigated the aetiology of language impairment in 579 four-year-old twins with low language performance and their co-twins, members of 160 MZ twin pairs, 131 same-sex DZ pairs and 102 opposite-sex DZ pairs. METHODS: Language impairment in 4-year-olds was defined by scores below the 15th percentile on a general factor derived from an extensive language test battery. Language impairment of different degrees of severity was investigated by using multiple cut-offs below the 15th percentile. RESULTS: DeFries-Fulker extremes analysis indicated that language impairment as measured by the general language scale is under strong genetic influence. In addition, group differences heritability showed an increasing trend (from 38% to 76%) as a function of severity of language impairment. Although more boys are impaired than girls, incorporating opposite-sex DZ pairs into the analysis found neither quantitative nor qualitative differences between boys and girls in genetic and environmental aetiologies. CONCLUSIONS: Language impairment at four years is heritable. This finding replicates previous research on language impairment and extends it by showing that language impairment is heritable in twins selected from a representative community sample. Despite the mean difference between boys and girls, genetic and environmental influences are quantitatively and qualitatively similar for language impairment for boys and girls. For both boys and girls, heritability appears to be greater for more severe language impairment, indicating stronger influence of genes at the lower end of language ability.

Child, Preschool↗

Nature, nurture and academic achievement: a twin study of teacher assessments of 7-year-olds.

BACKGROUND: Twin research has consistently shown substantial genetic influence on individual differences in cognitive ability; however, much less is known about the genetic and environmental aetiologies of school achievement. AIMS: Our goal is to test the hypotheses that teacher-assessed achievement in the early school years shows substantial genetic influence but only modest shared environmental influence when children are assessed by the same teachers and by different teachers. SAMPLE: 1,189 monozygotic (MZ) and dizygotic (DZ) twin pairs born in 1994 in England and Wales. METHODS: Teachers evaluated academic achievement for 7-year-olds in Mathematics and English. Results were based on the twin method, which compares the similarity between identical and fraternal twins. RESULTS: Suggested substantial genetic influence in that identical twins were almost twice as similar as fraternal twins when compared on teacher assessments for Mathematics, English and a total score. CONCLUSIONS: The results confirm prior research suggesting that teacher assessments of academic achievement are substantially influenced by genetics. This finding holds even when twins are assessed independently by different teachers.

Child↗

Substantial genetic influence on mild mental impairment in early childhood.

We report the first major genetic study of mild mental impairment. From a representative sample of 3886 twins (1314 monozygotic, 1296 dizygotic same-sex, and 1276 dizygotic opposite-sex), the lowest 5% were selected on a composite measure of verbal and nonverbal abilities assessed by parents when the twins were 2, 3, and 4 years of age. Twin concordances for mild mental impairment were 74% for monozygotic twins, 45% for same-sex, and 36% for opposite-sex dizygotic twins, indicating substantial genetic influence. Model-fitting analyses estimated group heritability as.49, which is significantly greater than heritability for the rest of the population in early childhood. These results suggest that mild mental impairment is a good target for neuroscience research on global brain function and dysfunction.

Child, Preschool↗

Genetic and environmental mediation of the relationship between language and nonverbal impairment in 4-year-old twins.

This study of 4-year-old twins investigated the genetic and environmental origins of comorbidity between language impairment and nonverbal ability by testing the extent to which language impairment in one twin predicted nonverbal ability in the co-twin. Impairment of language ability was defined as scores below the 15th percentile on a general language scale derived from a battery of diverse language tests. Four hundred thirty-six children, members of 160 monozygotic (MZ) and 131 same-sex dizygotic (DZ) twin pairs, were identified as language impaired. Language-impaired probands also suffered significant impairments in nonverbal ability. DeFries-Fulker extremes analysis showed evidence for substantial genetic mediation of the phenotypic relationship between language impairment and poor nonverbal ability in that language problems in one twin predicted poor nonverbal ability in the co-twin, much more so for MZ twins than for DZ twins. This finding held even when we excluded those children with language impairment whose nonverbal score indicated general cognitive delay. These results point to a general genetic factor that includes both language and nonverbal problems.

Case-Control Studies↗

A behavioral genetic study of the overlap between personality and parenting.

The current study had three aims. The first was to examine the covariation between personality of parents and parenting behaviors. The second aim was to examine the genetic and environmental influences on parenting behaviors. The third aim was to examine the extent to which the association between personality and parenting was mediated by genetic and environmental factors. Personality (Five Factor Model, NEO-FFI) and parenting data were collected as part of a larger German study of 300 adult twin pairs (GOSAT). The current paper analyzes data on a subset of the 300 twin pairs from the GOSAT sample who were concordant for having children (n=98 pairs or 196 individuals). Results indicated modest overlap between personality and parenting. In addition, univariate behavioral genetic analyses indicated moderate genetic influence on select parenting dimensions. Results also indicated that the moderate phenotypic covariation between personality and parenting was attributed largely to nongenetic factors. Implications of the findings for research on parenting and personality are considered.

Adolescent↗

Lack of association between polymorphisms of the dopamine D4 receptor gene and personality.

Recent studies have suggested a role of two polymorphisms of the dopamine D(4) receptor gene (DRD4 exon III and -521C/T) in the modulation of personality traits such as "novelty seeking" or "extraversion", which are supposed to be modulated by individual differences in dopaminergic function. However, several replication studies have not provided positive findings. The present study was performed to further investigate whether DRD4 exon III and -521C/T are associated with individual differences in personality. One hundred and fifteen healthy German volunteers completed the NEO-Five-Factor Inventory (NEO-FFI) and were genotyped for the two DRD4 polymorphisms. We found no association between DRD4 exon III and -521C/T, respectively, and estimated novelty seeking, NEO-FFI extraversion or other personality factors. Our findings are in line with several earlier studies which have failed to replicate the initial association results. Hence, our data do not provide evidence for a role of DRD4 exon III and the -521C/T polymorphism in the modulation of novelty seeking and extraversion.

Adolescent↗

Twins and non-twin siblings: different estimates of shared environmental influence in early childhood.

Twin studies typically indicate shared environmental influence for cognitive abilities, especially in early childhood. However, across studies, DZ twin correlations tend to be greater than non-twin sibling correlations, suggesting that twin estimates of shared environment are to some extent specific to twins. We tested this hypothesis in a sample of more than 1800 MZ and 1800 same-sex DZ pairs from the Twins Early Development Study (TEDS), a study of twins born in England and Wales in 1994 and 1995. For this analysis, we obtained comparable data from more than 130 same-sex younger siblings of the twins. Twins and their younger siblings were assessed for language, cognitive abilities and behavior problems by their parents at 2 and 3 years of age. For language and cognitive measures at both 2 and 3 years, but not for behavior problems, estimates of shared environment were more than twice as large for twins as compared to non-twin siblings. We conclude that about half of twin study estimates of shared environment for cognitive abilities in early childhood are specific to twins. Although many possibilities exist for explaining the special shared environment effect for twins, we suggest that cognitive-relevant experiences that are not shared by siblings are shared by twins because they are exactly the same age.

Chi-Square Distribution↗

German Observational Study of Adult Twins (GOSAT): a multimodal investigation of personality, temperament and cognitive ability.

The German Observational Study of Adult Twins (GOSAT) is the largest population-based observational twin study in Germany to date. Embedded in the Bielefeld Longitudinal Study of Adult Twins (BiLSAT), it addresses the etiology of personality, temperament and cognitive ability in a sample of 300 monozygotic (MZ) and dizygotic (DZ) adult twin pairs between 18 and 70 years of age. A major aim of the GOSAT lies in the utilization of different modes of measurement, (i.e., peer reports and observational data), in addition to self-reports which have been used predominantly in past behavioral genetic research on personality and temperament in adults. Participants completed a full day assessment at the University of Bielefeld including videotaped social interactions and presentations, psychometric intelligence tests and computerized elementary cognitive tasks as well as objective measures and unobtrusive behavior counts. The research design of the GOSAT was devised to reduce the potential impact of systematic rater bias on estimates of genetic and environmental influences to a minimum. In combination with extensive self- and peer report data on key personality and personality related dimensions available from the BiLSAT, the GOSAT provides a rich dataset, which currently includes DNA samples from 80% of its participants.

Adult↗

Twins early development study (TEDS): a multivariate, longitudinal genetic investigation of language, cognition and behavior problems in childhood.

The Twins Early Development Study (TEDS) focuses on the early development of the three most common psychological problems in childhood: communication disorders, mild mental impairment and behavior problems. The TEDS twins were assessed longitudinally at 2, 3, 4 and 7 years of age in order to investigate genetic and environmental contributions to change and continuity in language and cognitive development; it is multivariate in order to examine the origins of comorbidity; and it uses a large sample in order to study abnormal development in the context of normal development. The twins were identified from birth records of twins born in the UK in 1994-96. More than 15,000 pairs of twins have been enrolled in TEDS and the participating families are representative of the UK. The measures at 2, 3 and 4 years are administered by parents. At 7 years, children are assessed for language and cognitive development using telephone testing, parents and children are interviewed about behavior problems, and teachers also assess behavior problems as well as academic achievement. One set of findings is that the same genes largely contribute to both language and cognitive problems and the same genes affect normal and abnormal development, a result that suggests that general impairment may be a better target for genetic research than specific language impairment independent of nonverbal cognitive problems. DNA has been obtained so far for more than 4000 pairs and is being used initially in molecular genetic studies of language problems and hyperactivity.

Birth Certificates↗

The genetic and environmental origins of language disability and ability.

This study investigated whether genes affect language impairment to the same extent as they affect differences in language ability following up an earlier study of 579 four-year-old twins with low language performance and their cotwins (Viding et al., in press). The present study selected low-language twins from 6,963 pairs of twins from the Twins Early Development Study assessed for vocabulary and grammar by their parents at 2, 3, and 4 years of age. For impaired groups corresponding to the lowest scoring 5% and 10% at each age, twin concordances and model-fitting analyses indicated substantial genetic influence on the mean difference between affected children and the population (h2g), generally higher than for individual differences for the entire sample (h2).

Child, Preschool↗