Heritability of refractive error and familial aggregation of myopia in an elderly American population.

PURPOSE: To determine the heritability of refractive error and the familial aggregation of myopia in an older population. METHODS: Seven hundred fifty-nine siblings (mean age, 73.4 years) in 241 families were recruited from the Salisbury Eye Evaluation (SEE) Study in eastern Maryland. Refractive error was determined by noncycloplegic subjective refraction (if presenting distance visual acuity was < or =20/40) or lensometry (if best corrected visual acuity was >20/40 with spectacles). Participants were considered plano (refractive error of zero) if uncorrected visual acuity was >20/40. Preoperative refraction from medical records was used for pseudophakic subjects. Heritability of refractive error was calculated with multivariate linear regression and was estimated as twice the residual between-sibling correlation after adjusting for age, gender, and race. Logistic regression models were used to estimate the odds ratio (OR) of myopia, given a myopic sibling relative to having a nonmyopic sibling. RESULTS: The estimated heritability of refractive error was 61% (95% confidence interval [CI]: 34%-88%) in this population. The age-, race-, and sex-adjusted ORs of myopia were 2.65 (95% CI: 1.67-4.19), 2.25 (95% CI: 1.31-3.87), 3.00 (95% CI: 1.56-5.79), and 2.98 (95% CI: 1.51-5.87) for myopia thresholds of -0.50, -1.00, -1.50, and -2.00 D, respectively. Neither race nor gender was significantly associated with an increased risk of myopia. CONCLUSIONS: Refractive error and myopia are highly heritable in this elderly population.

Determinants and heritability of intraocular pressure and cup-to-disc ratio in a defined older population.

PURPOSE:

To investigate the heritability of intraocular pressure (IOP) and cup-to-disc ratio (CDR) in an older well-defined population.

DESIGN:

Family-based cohort study.

PARTICIPANTS:

Through the population-based Salisbury Eye Evaluation study, we recruited 726 siblings (mean age, 74.7 years) in 284 sibships.

METHODS:

Intraocular pressure and CDR were measured bilaterally for all participants. The presence or absence of glaucoma was determined by a glaucoma specialist for all probands on the basis of visual field, optic nerve appearance, and history. The heritability of IOP was calculated as twice the residual between-sibling correlation of IOP using linear regression and generalized estimating equations after adjusting for age, gender, mean arterial pressure, race, self-reported diabetes status, and history of systemic steroid use. The heritability of CDR was calculated using the same model and adjustments as above, while also adjusting for IOP.

MAIN OUTCOME MEASURES:

Heritability and determinants of IOP and CDR, and impact of siblings' glaucoma status on IOP and CDR.

RESULTS:

We estimated the heritability to be 0.29 (95% confidence interval [CI], 0.12-0.46) for IOP and 0.56 (95% CI, 0.35-0.76) for CDR in this population. Mean IOP in siblings of glaucomatous probands was statistically significantly higher than in siblings of normal probands (mean difference, 1.02 mmHg; P = 0.017). The mean CDR in siblings of glaucomatous probands was 0.07 (or 19%) larger than in siblings of glaucoma suspect referrals (P = 0.045) and siblings of normal probands (P = 0.004).

CONCLUSIONS:

In this elderly population, we found CDR to be highly heritable and IOP to be moderately heritable. On average, siblings of glaucoma patients had higher IOPs and larger CDRs than siblings of nonglaucomatous probands.

Heritability of peripheral refraction in Chinese children and adolescents: the Guangzhou Twin Eye study.

PURPOSE:

To estimate the heritability of peripheral refraction in Chinese children and adolescents.

METHODS:

The authors examined 72 monozygotic (MZ) twins and 48 dizygotic (DZ) twins aged 8 to 20 years from a population-based twin registry. Temporal and nasal peripheral refraction, each 40° from the visual axis, and axial refraction were measured using an autorefractor. Relative peripheral refractive error (RPRE) was defined as the peripheral refraction minus the axial refraction. Heritability was assessed by structural equation modeling after adjustment for age and sex.

RESULTS:

The mean and SD of temporal refraction (T(40)), nasal refraction (N(40)), RPRE-T(40), RPRE-N(40), and T(40)-N(40) asymmetry were -0.27 ± 2.0 D, 0.36 ± 2.19 D, 1.18 ± 1.39 D, 1.80 ± 1.69 D, and -0.62 ± 1.58 D, respectively. The intraclass correlations for T(40) refraction, N(40) refraction, RPRE-T(40), RPRE-N(40), and T(40)-N(40) asymmetry were 0.87, 0.83, 0.65, 0.74, and 0.58 for MZ pairs and 0.49, 0.42, 0.30, 0.41, and 0.32 for DZ pairs, respectively. A model with additive genetic and unique environmental effects was the most parsimonious, with heritability values estimated as 0.84, 0.76, 0.63, 0.70, and 0.55, respectively, for the peripheral refractive parameters.

CONCLUSIONS:

Additive genetic effects appear to explain most of the variance in peripheral refraction and relative peripheral refraction when adjusting for the effects of axial refraction.

Heritability and The Units of Selection: A defense of Genic Selectionism

Tesina elaborada para obtener el MPhil en la Universidad de Cambridge, Inglaterra, 1987

Heritability, determinants and reference values of renal length: a family-based population study.

OBJECTIVES: In this population-based study, reference values were generated for renal length, and the heritability and factors associated with kidney length were assessed. METHODS: Anthropometric parameters and renal ultrasound measurements were assessed in randomly selected nuclear families of European ancestry (Switzerland). The adjusted narrow sense heritability of kidney size parameters was estimated by maximum likelihood assuming multivariate normality after power transformation. Gender-specific reference centiles were generated for renal length according to body height in the subset of non-diabetic non-obese participants with normal renal function. RESULTS: We included 374 men and 419 women (mean ± SD, age 47 ± 18 and 48 ± 17 years, BMI 26.2 ± 4 and 24.5 ± 5 kg/m(2), respectively) from 205 families. Renal length was 11.4 ± 0.8 cm in men and 10.7 ± 0.8 cm in women; there was no difference between right and left renal length. Body height, weight and estimated glomerular filtration rate (eGFR) were positively associated with renal length, kidney function negatively, age quadratically, whereas gender and hypertension were not. The adjusted heritability estimates of renal length and volume were 47.3 ± 8.5 % and 45.5 ± 8.8 %, respectively (P < 0.001). CONCLUSION: The significant heritability of renal length and volume highlights the familial aggregation of this trait, independently of age and body size. Population-based references for renal length provide a useful guide for clinicians. KEY POINTS: • Renal length and volume are heritable traits, independent of age and size. • Based on a European population, gender-specific reference values/percentiles are provided for renal length. • Renal length correlates positively with body length and weight. • There was no difference between right and left renal lengths in this study. • This negates general teaching that the left kidney is larger and longer.

Body size in the field cricket Gryllus integer (Orthoptera : Gryllidae) :heritability and male mating success

The influence of male body weight on the aggressive and mating behaviour of male Gryllus integer was studied under laboratory conditions. The relationship between adult age and weight was first determined; female weight increased and male weight decreased with age. Virgin males that had been isolated since the adult molt were paired for similar age and a difference in weight of greater than 200 mg. Paired males and a virgin female were observed in a glass arena for 24 minutes or until a mating occurred. Larger males mated significantly more often than smaller males. Larger males attacked more often, were more successful in aggressive encounters and had more contact with the female. Males that did not mate had lower rates of courtship and mounts than males that mated. Females in trials that did not result in a mating were signifcantly heavier than females in trials that resulted in a mating. Larger males that mated were significantly closer in weight to the weight of the female than larger males in trials that did not result in a mating. Larger males in trials that did not result in a mating had higher rates of aggressive stridulation than larger males that mated. Male weight is therefore important in mating success; fitness traits should theoretically show low genetic variability. However, significant heritability values were found for live weight, dry weight, head width, pronotum width and length, hind femur length and forewing length when estimated from the regression of offspring on mid-parent values, offspring and female and male values separately and full-sib correlations. The heritability of hind femur width was significant when estimated from the regression of offspring on male parent and from full-sib correlations. Heritability estimates of forewing length were significantly higher when estimated from the regression of offspring on female parent than when estimated from the regression of offspring on male parent. High phenotypic, genetic and environmental correlations were found between all pairs of traits. Data on male mating success and the heritability of fitness traits were discussed in terms of the maintenance of genetic variability.

Heritability of multiple mating by female field crickets, Gryllus integer (Orthoptera: Gryllidae)

The heritability of multiple mating in female Gryllus integer crickets was studied. Two preliminary experiments were conducted to determine when females first mate following the post-imaginal moult and to ascertain whether constant exposure to males affects female mating rate. Female Q. integer first mated at an average age of 3.6 days (S.D. = 2.3, Range = 0-8 days) . Exposing female crickets to courting males 24 hr daily did not significantly alter mating rates from those females in contact with males for only 5 hr per day. A heritability value of 0.690 ± 0.283 was calculated for multiple mating behavior in female Q. integer using a parent-offspring regression approach. Parental females mated between land 30 times (x 9.8, S . D. = 6. 6 ) and offspring matings ranged from 0 to 26 times (x 7 .3, S.D. = 3.4). Multiple mating is probably a sexually selected trait which functions as a mechanism of female choice and increases reproductive success through increased offspring production. Classical theory suggests that traits intimately related with fitness should exhibit negligible heritable variation. However, this study has shown that multiple mating, a trait closely linked with reproductive fitness, exhibits substantial heritability. These results are in concordance with a growing body of empirical evidence suggesting many fitness traits in natural populations demonstrate heritabilities far removed from zero. Various mechanisms which may maintain heritable variation for female multiple mating in wild, outbred Q. integer populations are discussed.

IQ heritability estimation : analyzing genetically-informative data with structural equation models. 'Estimaci??n de la heredabilidad del CI : analizando datos gen??ticamente informativos con modelos de ecuaciones estructurales'

Resumen tomado de la publicaci??n. Resumen tambi??n en ingl??s

A systematic review of the complex organization of human cognitive domains and their heritability

Resumen tomado de la publicación

Inheritance beyond plain heritability : variance-controlling genes in Arabidopsis thaliana

The phenotypic effect of a gene is normally described by the mean-difference between alternative genotypes. A gene may, however, also influence the phenotype by causing a difference in variance between genotypes. Here, we reanalyze a publicly available Arabidopsis thaliana dataset [1] and show that genetic variance heterogeneity appears to be as common as normal additive effects on a genomewide scale. The study also develops theory to estimate the contributions of variance differences between genotypes to the phenotypic variance, and this is used to show that individual loci can explain more than 20% of the phenotypic variance. Two well-studied systems, cellular control of molybdenum level by the ion-transporter MOT1 and flowering-time regulation by the FRI-FLC expression network, and a novel association for Leaf serration are used to illustrate the contribution of major individual loci, expression pathways, and gene-by-environment interactions to the genetic variance heterogeneity.

Heritability of corticosterone response and changes in life history traits during selection in the zebra finch

Vertebrates respond to environmental stressors through the neuro-endocrine stress response, which involves the production of glucocorticoids. We have selected independent, duplicate divergent lines of zebra finches for high, low and control corticosterone responses to a mild stressor. This experiment has shown that over the first four generations, the high lines have demonstrated a significant realized heritability of about 20%. However, the low lines have apparently not changed significantly from controls. This asymmetry in response is potentially because of the fact that all birds appear to be showing increased adaptation to the environment in which they are housed, with significant declines in corticosterone response in control lines as well as low lines. Despite the existence of two- to threefold difference in mean corticosterone titre between high and low lines, there were no observed differences in testosterone titre in adult male birds from the different groups. In addition, there were no consistent, significant differences between the lines in any of the life history variables measured – number of eggs laid per clutch, number of clutches or broods produced per pair, number of fledglings produced per breeding attempt, nor in any of egg, nestling and fledgling mortality. These results highlight the fact that the mechanisms that underlie variation in the avian physiological system can be modified to respond to differences between environments through selection. This adds an additional level of flexibility to the avian physiological system, which will allow it to respond to environmental circumstances.

Heritability estimation in early generations of two-way crosses in soybean

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Estimativas de herdabilidade e tendências genéticas para características de crescimento e reprodutivas em bovinos da raça Nelore: Estimates of heritability and genetic trends for growth and reproduction traits in Nelore cattle

Foram estimados os coeficientes de herdabilidade e a mudança genética para peso à desmama (PD), peso ao sobreano (PS), ganho de peso do nascimento à desmama (GND), ganho de peso da desmama ao sobreano (GDS), perímetro escrotal (PE) e idade ao primeiro parto (IPP) em animais da raça Nelore. Foram utilizados dados de 128.148 animais nascidos entre 1984 e 2006. Os componentes de variância foram estimados pelo método da máxima verossimilhança restrita, e os valores genéticos foram preditos por modelos mistos aplicando-se modelo animal bicaracterística, incluindo peso à desmama em todas as análises. As tendências genéticas foram estimadas pela regressão dos valores genéticos sobre o ano de nascimento dos animais. Os coeficientes de herdabilidade do efeito direto estimados foram de 0,23 (0,07) (PD); 0,24 (0,02) (PS); 0,21 (0,01) (GND); 0,23 (0,01) (GDS); 0,46 (0,02) (PE) e 0,15 (0,01) (IPP). As tendências genéticas diretas estimadas foram de 0,171 (0,01); 0,219 (0,02); 0,186 (0,03) e 0,224 (0,02) kg/ano para PD, PS, GND e GDS, respectivamente, o que representa incrementos de 0,10; 0,08; 0,13 e 0,22% nas médias das mesmas características ao ano, respectivamente. Para o PE e a IPP no período de 1984 a 1995, as tendências genéticas foram nulas, com valores de 0,011 (0,03) cm/ano e -0,003 (0,06) dias/ano, respectivamente. No segundo período considerado (1996 a 2006), as tendências genéticas para PE e IPP foram de 0,069 (0,01) cm/ano e -3,024 (0,04) dias/ano, respectivamente, indicando melhorias consideráveis em tais características. Esses valores sugerem que características produtivas e reprodutivas, quando utilizadas como critério de seleção, proporcionam progresso genético no rebanho, sendo indicadas para seleção de animais da raça Nelore.