Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging.

Loss of fine skin patterning is a sign of both aging and photoaging. Studies investigating the genetic contribution to skin patterning offer an opportunity to better understand a trait that influences both physical appearance and risk of keratinocyte skin cancer. We undertook a meta-analysis of genome-wide association studies of a measure of skin pattern (microtopography score) damage in 1,671 twin pairs and 1,745 singletons (N = 5,087) drawn from three independent cohorts.

Genetic and environmental influences on optimism and its relationship to mental and self-rated health: a study of aging twins.

Optimism has been shown to be important in maintaining wellbeing into old age, but little is known about the sources of variation in optimism and its links to mental and somatic health. Optimism, mental, and self-rated health were measured in 3,053 twin individuals (501 MZF, 153 MZM, 274 DZF, 77 DZM, and 242 DZ opposite-sex twin pairs and 561 single twins) over 50 years using the life orientation test, the General Health Questionnaire and a single-item question for self-rated health. Additive genetic factors explained 36, 34, and 46% of the variation in optimism, mental, and self-rated health, respectively, with the remainder being due to non-shared environmental influences.

Genetic covariation between theAuthor Recognition Test and reading and verbal abilities: what can we learn from the analysis of high performance?

The Author Recognition Test (ART) measures print exposure and is a unique predictor of phonological and orthographic processes in reading. In a sample of adolescent and young adult twins and siblings (216 MZ/430 DZ pairs, 307 singletons; aged 11-29 years) ART scores were moderately heritable (67%) and correlated with reading and verbal abilities, with genes largely accounting for the covariance. We also examine whether high (and low) (i.

A population-based study of Australian twins with melanoma suggests a strong genetic contribution to liability.

Melanoma runs within families, but this may be due to either shared genetic or shared environmental influences within those families. The concordance between pairs of non-identical twins compared to that between identical twins can be used to determine whether familial aggregation is due to genetic or environmental factors. Mandatory reporting of melanoma cases in the state of Queensland yielded approximately 12,000 cases between 1982 and 1990.

Evidence of shared genes in refraction and axial length: the Genes in Myopia (GEM) twin study.

Purpose: Axial length has been shown to explain up to 50% of the total variance in refraction, with axial length and refraction having a major genetic component. However, no study has attempted to determine whether the correlation between axial length and refraction is explained by shared genetic or environmental factors.

Methods: All twins from Victoria aged 18 years or older were invited to participate in the Genes in Myopia (GEM) twin study through the Australian Twin Registry (ATR).

Linkage and association analysis of spectrophotometrically quantified hair color in Australian adolescents: the effect of OCA2 and HERC2.

Genetic studies of pigmentation have benefited from spectrophotometric measures of light-dark hair color. Here we use one of those measures, absorbance at 650 nm, to look for chromosomal regions that harbor genes affecting hair pigmentation. At 7p15.

Red hair is the null phenotype of MC1R.

The Melanocortin-1 Receptor (MC1R) is a G-protein coupled receptor, which is responsible for production of the darker eumelanin pigment and the tanning response. The MC1R gene has many polymorphisms, some of which have been linked to variation in pigmentation phenotypes within human populations. In particular, the p.

Spectrophotometric methods for quantifying pigmentation in human hair-influence of MC1R genotype and environment.

Eumelanin (brown/black melanin) and pheomelanin (red/yellow melanin) in human hair can be quantified using chemical methods or approximated using spectrophotometric methods. Chemical methods consume greater resources, making them less attractive for epidemiological studies. This investigation sought to identify the spectrophotometric measures that best explain the light-dark continuum of hair color and the measure that is best able to distinguish red hair from nonred hair.

Adult-onset myopia: the Genes in Myopia (GEM) twin study.

Purpose: To report the frequency of adult-onset myopia in a large cohort of Caucasian twins that were assessed as part of the Genes in Myopia (GEM) twin study and to quantify the genetic contribution in adult-onset myopia using the classic twin model.

Methods: All twins aged 18 years or older were invited to participate in the GEM twin study through the Australian Twin Registry (ATR). Each twin completed a standard questionnaire and underwent a comprehensive eye assessment, including cycloplegic objective examination.

Dominant genetic effects on corneal astigmatism: the genes in myopia (GEM) twin study.

Purpose: This study was conducted to assess the relative influence of genetics and environment on corneal astigmatism and corneal curvature in a large sample of twins.

Methods: A total of 612 twin pairs (345 monozygotic [MZ] and 267 dizygotic [DZ]) aged between 18 and 86 years (mean age, 52.11 +/- 15.

The Queensland Study of Melanoma: environmental and genetic associations (Q-MEGA); study design, baseline characteristics, and repeatability of phenotype and sun exposure measures.

Cutaneous malignant melanoma (CMM) is a major health issue in Queensland, Australia, which has the world's highest incidence. Recent molecular and epidemiologic studies suggest that CMM arises through multiple etiological pathways involving gene-environment interactions. Understanding the potential mechanisms leading to CMM requires larger studies than those previously conducted.

Genetic and environmental influences on individual differences in attitudes toward homosexuality: an Australian twin study.

Previous research has shown that many heterosexuals hold negative attitudes toward homosexuals and homosexuality (homophobia). Although a great deal of research has focused on the profile of homophobic individuals, this research provides little theoretical insight into the aetiology of homophobia. To examine genetic and environmental influences on variation in attitudes toward homophobia, we analysed data from 4,688 twins who completed a questionnaire concerning sexual behaviour and attitudes, including attitudes toward homosexuality.

The role of educational attainment in refraction: the Genes in Myopia (GEM) twin study.

Purpose: Educational attainment has been proposed as one of the most consistent environmental risk factors associated with myopia. The Genes in Myopia (GEM) twin study is the first myopia twin study to determine the relative genetic contribution in educational attainment as well as assessing the shared genetic and environmental factors between educational attainment and refraction through structural equation modeling.

Methods: All twins from Victoria aged 18 years or older were invited to participate in this study through the Australian Twin Registry (ATR).

Receptor function, dominant negative activity and phenotype correlations for MC1R variant alleles.

The human melanocortin-1 receptor (MC1R) is a G-protein coupled receptor involved in the regulation of pigmentation. Several MC1R variant alleles are associated with red hair, fair skin and increased skin cancer risk. We have performed a systematic functional analysis of nine common MC1R variants and correlated these results with the strength of the genetic association of each variant allele with pigmentation phenotypes.

Heritability of refractive error and ocular biometrics: the Genes in Myopia (GEM) twin study.

Purpose: A classic twin study was undertaken to assess the contribution of genes and environment to the development of refractive errors and ocular biometrics in a twin population.

Methods: A total of 1224 twins (345 monozygotic [MZ] and 267 dizygotic [DZ] twin pairs) aged between 18 and 88 years were examined. All twins completed a questionnaire consisting of a medical history, education, and zygosity.

Hypotheses on the effect of cadmium on glutathione content of red blood corpuscles.

Previous studies have shown that Glutathione, a tripeptide found in blood, is involved in protecting against toxins. Glutathione levels are known to drop in response to cadmium. Using 15 twin pairs, we modeled the effect of cadmium on glutathione levels.

A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31.

Deterioration in stratum corneum reticular patterning (skin pattern or skin wrinkling) has been associated with increased rates of solar keratoses and skin cancer. A previous analysis of data from the twin sample used in this investigation has shown that 86% of the variation in skin pattern is genetic at age 12 and 62% in an adult sample (mean age = 47.5).

Genetic and environmental influences on skin pattern deterioration.

Sun exposure has been known to cause histological changes in the dermal layer of the skin. Using deterioration in the fine reticular patterning of the epidermal stratum corneum (skin pattern, as measured on the Beagley-Gibson scale) as a proxy measure of histological changes in the dermal layer, previous studies have typically assumed that degradation of skin pattern is largely caused by sun exposure. A twin study comprising 332 monozygotic twin pairs and 488 dizygotic twin pairs at ages 12, 14, and 16 was used to investigate the etiology of variation in skin pattern, particularly in relation to measured sun exposure and skin color.