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At least 199 records · Page 11Linked to original sources
PubMed1987

Sweat pore count, hair density and tooth size: heritability and genetic correlation.

In 109 subjects from 50 families without major inherited disorders, sweat pore count showed the anticipated reduction with age but also unexpected systematic differences between sides and between fingers. After adjustment for age and sex, significant genetic variation was found for sweat pore count, hair density and tooth size. The three traits were not phenotypically correlated but there was a significant negative genetic correlation between hair density and sweat pore count. The findings suggest that the same genes influence these two traits in opposite directions and that genetic and environmental influences may act on them through different physiological mechanisms.

Age Factors↗
PubMed2000

Latitude-correlated genetic polymorphisms: selection or gene flow?

Latitude-correlated polymorphisms can be due to either selection-driven evolution or gene flow. To discriminate between them, we propose an approach that studies subpopulations springing from a single population that have lived for generations at different latitudes and have had a low genetic admixture. These requirements are fulfilled to a large extent by Ashkenazi and Sephardi Jews. The original population lived at a latitude of 35 degrees N, where the Sephardis still live. The Ashkenazis, however, moved to a latitude of 50 degrees N, starting about 10 centuries ago. The present study examines 3 latitude-correlated polymorphisms: PGP, PGM1, and AHSG. We found that PGP*2 and AHSG*2 alleles most likely underwent selection-driven evolution, but that PGM1*ts allele was not similarly affected. Since temperature might have been considered a reasonable selective factor, we also studied a population living at >800 m above sea level from Aosta Valley (Italy).

Altitude↗
PubMed1980

Estimating genetic correlations.

A method is proposed for simultaneous estimation of genetical variance and covariance components for quantitative characters and hence correlations and cross-correlations between relatives. It proceeds by successive approximations, which are not difficult to compute. Judging by examples, they appear to converge rapidly in practice. When distributions are normal and homoscedastic, the method gives the maximum-likelihood estimates and their error variances and covariances. It can be readily modified to take into account assumptions such as that means and variances are equal in fathers and sons. But the amount of calculations required goes up very rapidly with the number of characters and relatives considered stimultaneously.

Female↗
PubMed1964

[THE PROPORTION OF ANTIHEMOPHILIC FACTORS: BIOLOGICAL AND GENETIC CORRELATION WAS DETERMINED ON 55 SUBJECTS].

On the basis of the genetic laws of transmission of the hemophilic gene, it was determined in 55 persons of both sexes from four hemophilic families that there were 14 non-hemophilics, six hemophilics, four possible hemophilics, six true carriers and 25 possible carriers of the hemophilic gene. Two methods were simultaneously used to assess the plasma content of antihemophilic factor. Excluding the known hemophilics, two of the four possible hemophilics had a low plasma content of factor VIII. Of the nine true or possible carriers, only one had an abnormal plasma level of factor VIII. Among the other carriers, three of four true carriers had a low level, as did six of 18 possible carriers. Using these methods, a satisfactory correlation was obtained between the genetic and biological findings.

Blood Coagulation Tests↗
PubMed1994

Genetic correlations in the feed conversion complex of primiparous cows at a recommended and a reduced plane of nutrition.

An experiment at the Agricultural University of Norway provided data to estimate genetic parameters of roughage intake (RI), fat-corrected milk yield (FCM), smoothed BW (SW), weight change (WC), and energy balance (EB). Weekly measurements were averaged in four consecutive 6-wk periods after parturition for each of 331 primiparous Norwegian cows of 20 sires. Amount of concentrate fed was adjusted according to stage of lactation and cows were randomly assigned to a normal or a low level. Animals were given ad libitum access to grass silage. Multiple-trait animal models with all additive genetic relationships incorporated were applied to the subsets of all averages of one trait and all averages in one period. Each model contained for every trait 165 observations, 24 mo-year seasons of calving, and 313 additive genetic effects. (Co)variance components were estimated by an EM-REML algorithm. The heritability of RI increased with negative energy balance from .25 to .86, whereas the estimates were approximately .2 for FCM, .6 to .7 for SW, and .03 to .4 for WC and EB. The correlations between RI and FCM were .37 to .58 phenotypically and -.11 to .88 genetically; between RI and SW they were .57 to .73 phenotypically and .7 to 1 genetically; between FCM and SW they were -.06 to .35 phenotypically and -.33 to .70 genetically; and between WC and EB they were .52 to .92 phenotypically and -.09 to .88 genetically. Correlations between WC and EB and other traits were inconsistent over periods and had very high SE.

Animal Nutritional Physiological Phenomena↗
PubMed1991

Clinical ketosis: phenotypic and genetic correlations between occurrences and with milk yield.

The repeatability and heritability of ketosis were estimated using data from 28,277 Finnish Ayrshire cows. A four-trait linear model including community-year, calving age and month, genetic group, and random sire effects was used to describe first and second lactation milk yields and veterinary diagnoses of ketosis. Variance components were estimated using REML. The disease traits were also analyzed with a categorical model including the same effects except that community and year were separate factors. Variance components were estimated with marginal maximum likelihood. Genetic relationships between 339 sires analyzed were included in models. The phenotypic correlation between the first and second lactation was defined as a repeatability of trait. The lactational incidence risk of ketosis was .05 in both the first and the second lactation. Average milk production was 4956 and 5547 kg in the first and second lactations, respectively. Estimates of heritabilities were .09 and .07 for ketosis and .23 and .19 for milk in the first and second lactations, respectively. Genetic correlations between first and second lactation recordings were .64 for ketosis and .93 for milk. Repeatabilities between subsequent lactations were .36 (.13 in linear analysis) for ketosis and .68 for milk. In the first lactation, genetic relationship between milk yield and ketosis was unfavorable, but in the second lactation ketosis and milk yield were genetically and phenotypically unrelated.

Animals↗
PubMed1979

Estimates of genetic correlations among clinical measures of the eye.

In a quantitative genetic investigation of seven clinical tests, five pairs were significantly correlated: (1) cover test measures and corneal power, (2) corneal power and divergence recovery points, (3) convergence and divergence recovery points, (4) divergence break and recovery points, and (5) convergence break and recovery points. Common genes may account entirely for the gene influence on cover test measure; thus, parents who are above the population mean for corneal power will have offspring with a tendency toward an exodeviation (phoria). The two convergence amplitudes may depend on the same gene differences, whereas the two divergence amplitudes only partly reflect a common function, suggesting that they may be indexing somewhat different underlying physiologic mechanisms.

Accommodation, Ocular↗
PubMed1999

Heritability, phenotypic and genetic correlations of size and shape of Drosophila mediopunctata wings.

We have studied the morphology of wings of Drosophila mediopunctata employing the ellipse method, a procedure that allows precise descriptions of wing size (SI), wing shape outline (SH), and placement of longitudinal wing veins. We have found that the SH and the points which determine the position of the apices of the third, fourth and fifth longitudinal wing veins show high heritability in nature (the lower bound for the natural heritability is above 0.25). The values found are similar to those obtained for the broad-sense heritabilities (H2) in the laboratory. However, SI and the point which determines the apex of the second longitudinal wing vein showed small lower bounds for heritability in nature, 0.05 and 0.07, respectively, in spite of the high estimates of H2 in the laboratory. These results suggest that size and shape have different genetic properties. We observed a high positive phenotypic correlation between the SH, the fourth and the fifth longitudinal wing veins, which contrasts with a negative correlation between these traits and the second longitudinal vein. That is, as the SH gets longer, the apices of the second and fifth veins become closer to each other. Positive genetic correlations in the field were detected between SH, the fourth and the fifth longitudinal veins and also between the third and the fourth veins.

Animals↗
PubMedDate not supplied

Genetic correlates of menarcheal age: a multivariate twin study.

Multivariate genetic models were fitted to data from 44 pairs of MZ and 42 pairs of DZ twin girls on weight, height, and skeletal maturation at the age of menarche, in order to obtain information on genetic relationships of those measures with the age of menarche. The relationships of all three physical measures with this age were largely genetically controlled, but a genetic system controlling skeletal maturity was identified as the only genetic determinant of menarcheal age, independent of those systems of the two remaining physical measures. Heritabilities of all individual traits considered in the study were uniformly high. Possible links of genetic information with hormonal functions determining menarche are discussed.

Adolescent↗
PubMed2006

Heritability of serum resistin and its genetic correlation with insulin resistance-related features in nondiabetic Caucasians.

CONTEXT: Serum levels of resistin are believed to modulate insulin resistance in humans. OBJECTIVE: The aim of this study was to investigate whether serum resistin levels are genetically controlled and whether this control is shared with other insulin resistance traits. DESIGN AND METHODS: The study cohort included 264 nondiabetic probands, Caucasian from Italy, and their 473 adult family members. Phenotypic characterization included anthropometric variables, blood pressure, fasting glucose and insulin, lipid profile, and resistin levels. Genotypes were determined at position g.-420C-->G (rs1862513), IVS2+181G-->A (rs3745367), and GAT((n)) polymorphisms of the resistin (RETN) gene. RESULTS: In the 264 unrelated probands, resistin levels were significantly (P < 0.01) correlated with adiposity, blood pressure, C-reactive protein, and the metabolic syndrome score. In a variance component analysis of the 264 probands and their 473 relatives, about 70% of the observed variation of serum resistin levels was heritable (P < 0.0001). A small, but significant (P = 0.004) proportion of this variance was explained by the G-->A variation at position IVS2+181 of the RETN gene. Significant genetic correlations (P < 0.05) were observed between resistin and body mass index (rho(g) = 0.30), waist circumference (rho(g) = 0.32), the insulin resistance index HOMA(IR) (rho(g) = 0.28), and the metabolic syndrome score (rho(g) = 0.35). CONCLUSIONS: These data indicate that serum resistin is highly heritable and has some common genetic background with traits related to insulin resistance, reinforcing the hypothesis that this adipokine may play a pathogenic role in insulin resistance-related abnormalities, including type 2 diabetes and cardiovascular disease.

Adult↗
PubMedDate not supplied

Further study on the genetic correlation between members of a multigene family.

The extent of genetic similarity (in terms of identity coefficients) was investigated among members of a multigene family that is evolving under mutation, unequal crossing over and random genetic drift. The method of KIMURA and Ohta (1979) was used, but the possibility was incorporated that the length of the shift (in terms of the number of genes) involved in unequal crossing over can be more than one gene unit. Extensive numerical analyses show that, at equilibrium, the identity coefficients between two gene members are practically independent of their distance apart on the chromosome when the mean length of the shift at unequal crossing over is more than 10% of the total size of the family. In that case, the approximate treatment by OHTA (1980) is shown to be valid, but when the mean length of the shift is less than 10%, the average identity coefficient at equilibrium is underestimated. In order to clarify the effect of natural selection responsible for keeping the family size stable, Monte Carlo simulation studies were performed. The results indicate that the identity coefficients are not greatly influenced by natural selection on gene family size, particularly when the number of genes shifted is small compared to the family size. In addition, with sufficiently strong selection on family size, unequal crossovers with a large shift (such as with maximum shift of 90% of the family size) become ineffective and almost indistinguishable from those with a small shift.

Biological Evolution↗
PubMed1991

The genetic correlation between intelligence and speed of information processing.

This study examined the contributions of genetic and environmental factors to the observed correlation between intelligence test scores and speed of information processing, based on data for same-sex adult twin pairs (age, 15-57). Verbal and performance IQ scores from the Multidimensional Abilities Battery, as well as 11 reaction-time measures derived from a battery of information-processing tasks, were available for 50 monozygotic and 32 dizygotic pairs of twins. Multivariate biometrical analyses were used to estimate genetic and environmental parameters underlying observed variances and covariances among intelligence test scores and a general speed of information-processing factor (based on a linear composite of the 11 reaction-time scores). A common-factor model with loadings on general speed of processing, verbal IQ, and performance IQ fit the data well. The common factor was influenced primarily by additive genetic effects, such that the observed relationships among the speed and IQ measures are mediated entirely by hereditary factors. There was additional specific genetic variance for Verbal IQ and specific shared-twin environmental variance for Performance IQ. However, twin similarity for general speed of processing was explained entirely by genetic factors related to intelligence. The results emphasize the importance of common, heritable, biological mechanisms underlying the speed-IQ association.

Adolescent↗
PubMed1999

Clinical and genetic correlate in childhood onset Friedreich ataxia.

We analyzed the clinical and genetic aspects of 28 FRDA patients from 20 families. 19 families were consanguineous. The onset was between 4 and 13 1/2 years of age (mean 15.4 +/- 6.2). Three patients presented with cardiomyopathy, one with weakness, and the rest with ataxia. There were two patients with preserved lower-limb deep tendon reflexes. Sensory nerve action potentials were reduced in 14/14 patients. Cardiac echograms were abnormal in 17/19 cases, and this was between 6 and 16 years of age (mean 10.1 +/- 3.5). Four families were multiplex. Clinical intra-familial variability was observed. Increased GAA repeats of the X25 gene were found in 27/28 patients studied, all in a homozygous state. 88.9% of patients had a smaller allele larger than 500 repeats, and 66.7% had more than 700 repeats. The patient who did not have increased GAA repeats in both alleles had peculiar findings. Significant correlation of expansion was obtained for the early onset, and cardiomyopathy as the onset.

Action Potentials↗
PubMed2003

C-cell hyperplasia and medullary thyroid carcinoma: clinicopathological and genetic correlations in 66 consecutive patients.

Routine calcitonin (CT) assay programs and genetic testing for RET proto-oncogene mutations have consistently modified the management and understanding of C-cell proliferative disorders. We report a series of 66 consecutive patients with C-cell hyperplasia (CCH) or medullary thyroid carcinoma (MTC) observed in our institution within an 8-year time period. All the patients had a preoperative basal CT assay and an RET proto-oncogene sequencing. Seventeen patients (F-M ratio: 8:9, mean age: 29.7 y) had a multiple endocrine neoplasia Type 2: 3 children <10 years of age had CCH only, and 14 patients had an MTC, with neoplastic CCH in 10/14 cases. Twenty-seven patients (F-M ratio: 18:9, mean age: 56.6 y) had a sporadic MTC, with physiological CCH in 8 and neoplastic CCH in 3 cases. Twenty-two men (mean age: 46.2 y) had CCH only (physiological CCH in 17 men and neoplastic CCH in 5). We conclude that (1) clinical and pathological characteristics (familial MTC, tumor multifocality, neoplastic CCH) usually associated with hereditary MTC may be misleading and that on the contrary, RET sequencing gives no false positive result; (2) sporadic neoplastic CCH accompanies (and probably precedes) a number of sporadic MTC; and (3) women presenting with a sporadic elevated basal CT have a 100% risk of having an MTC (15/15), but this risk is 3-fold less in men (31%), who will most often have CCH only (69%).

Adolescent↗
PubMed2001

Genetic correlates of musical pitch recognition in humans.

We used a twin study to investigate the genetic and environmental contributions to differences in musical pitch perception abilities in humans. We administered a Distorted Tunes Test (DTT), which requires subjects to judge whether simple popular melodies contain notes with incorrect pitch, to 136 monozygotic twin pairs and 148 dizygotic twin pairs. The correlation of DTT scores between twins was estimated at 0.67 for monozygotic pairs and 0.44 for dizygotic pairs. Genetic model-fitting techniques supported an additive genetic model, with heritability estimated at 0.71 to 0.80, depending on how subjects were categorized, and with no effect of shared environment. DTT scores were only weakly correlated with measures of peripheral hearing. This suggests that variation in musical pitch recognition is primarily due to highly heritable differences in auditory functions not tested by conventional audiologic methods.

Adolescent↗