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PubMed2005

Genetic determination of variation and covariation of bone mineral density at the hip and spine in a Chinese population.

Bone mineral density (BMD) is a significant determinant of risk for osteoporosis. Genetic factors are known to account for a major proportion of variation of BMD in Caucasians. However, the degree of genetic determination of BMD in Chinese populations has seldom been investigated. The aim of our study was to investigate the magnitude of the genetic determination of BMD at the spine and hip, and their genetic covariation, in a population of Shanghai city in P. R. China. The subjects consisted of 44 full-sib pairs of females aged 19-43 years, 186 mother-daughter pairs, and 270 nuclear families. For BMD at the spine and hip, the values for narrow-sense heritability h2 (+/-SE) were 0.72+/-0.14 and 0.87+/-0.14, respectively, when estimated by full-sib pairs, and 0.44+/-0.07 and 0.77+/-0.07, respectively, when estimated by mother-daughter pairs. There was a significant genetic correlation r(g) (+/-SE) of BMD between the spine and hip, of 0.97+/-0.01 and 0.76+/-0.04, respectively, when estimated by full-sib pairs and mother-daughter pairs. The common household impact on BMD in our study was negligible according to the statistical estimate. We conclude that genetic factors play a major role in the determination of the variation and covariation of BMD at the spine and hip in our Chinese sample.

Adult↗
PubMed2005

Firing up the nature/nurture controversy: bioethics and genetic determinism.

It is argued here that bioethicists might inadvertently be promoting genetic determinism: the idea that genes alone determine human traits and behaviours. Discussions about genetic testing are used to exemplify how they might be doing so. Quite often bioethicists use clinical cases to support particular moral obligations or rights as if these cases were representative of the kind of information we can acquire about human diseases through genetic testing, when they are not. On other occasions, the clinical cases are presented in simplistic ways that portray genetic testing as yielding information more accurate than it actually is. It is concluded that, because of the problematic implications that the ideology of genetic determinism might have for individuals' wellbeing and for our public policies, bioethicists should be careful to present these issues in ways that do not promote questionable ideas about the causal role of genes in human diseases and behaviours.

Bioethics↗
PubMed1988

[Genetic determination of growth processes in the peripubertal period of human ontogeny].

Chronological peculiarities of genetic determination of three factors of physical development in different phases of peripubertal stage of human ontogenesis were studied. The differences between sexes are explained by the hypothesis of mutual "clearing off" of X-linked genes' effects. This hypothesis is confirmed by the coincident dynamics of two indices--of additive genetic effects in boys and of nonlinear genetic effects in girls. The results point to autonomous nature of genetic determination of head's morphological structures, which is more expressed in boys. The component partitioning of the phenotype variance of the individual scores of linear discriminant functions revealed steady decrease across the peripubertal stage in the level of genetic determination of the variability of children's belonging to the different age periods. In the whole, the results indicate the existence of marked genetic determination of physique's growth and development in a stage under study of human ontogenesis.

Adolescent↗
PubMed1976

A twin study of dental dimension. II. Independent genetic determinants.

To demonstrate the presence of independent genetic determinants of multiple correlated tooth dimensions from twin data, a multivariate analysis was performed on the covariance matrices of monozygotic and dizygotic within-pair differences for mesiodistal and buccolingual dimensions of 28 teeth of the secondary dentition. The results provided strong evidences that the correlation among tooth dimensions is primarily genetic in origin, probably attributable to the pleiotropic action of either independent genes or groups of genes. Among the genetic factors that were identified, one appeared to affect the maxillary teeth in general while a second influenced primarily the anterior mandibular teeth. There was a striking tendency for homologous measurements on the right and left sides to be associated with the same genetic factor. In contrast, genetic determination of the maxillary and mandibular dentition seemed to be independent of each other, and a wider range of genetic factors were found to influence the mandibular than the maxillary teeth, suggesting that a differential degree of evolutionary stability may have been achieved in the teeth of the two jaws.

Female↗
PubMed1999

[112 cases of sporadic and genetically determined pheochromocytoma: a comparative pathologic study].

The aim of this study was to compare 64 genetically determined pheochromocytomas (PH) (49 MEN IIa, 3 MEN IIb, 6 Von Recklinghausen diseases, 1 von Hippel-Lindau disease, 5 familial pheochromocytomas) and 48 sporadic PH. Genetically determined PH were more often observed among men and more frequently bilateral and multicentric than sporadic PH. Sporadic tumors had more often adrenal capsular invasion, necrosis and pseudocysts. Genetically determined PH were more differentiated with an insular pattern, hyaline globules and a higher percentage of polyhedric cells. Sporadic tumors were less differentiated with more frequently a diffuse pattern and small cells. Adrenal medullar hyperplasia was significantly associated with genetically determined PH. Adrenal cortical hyperplasia was not associated with a particular type of PH. The PS100 and chromogranin immunodetection was equivalent in both groups.

Adrenal Cortex↗
PubMed1979

Genetic determinants of borderline conditions.

Evidence about the genetic determinants for borderline conditions is reviewed. The research data are too limited and the diagnostic practices followed in existing studies are too varied to allow firm conclusions to be drawn. Thus, the need for new studies starting with well-defined samples of borderline patients is clear. Previous work implicates genetic factors in the etiology of at least some borderlines, but it is unclear that borderlines by any definition will, as a group, have uniformly strong and specific genetic determinants. With further research, partially overlapping subgroups might be defined on the basis of careful examination of borderline patients' clinical characteristics and family histories. Such characterization could have potential clinical value since there may be subgroups of borderlines who respond differently to various psychopharmacologic treatments (Klein 1975) or to exploratory versus ego supportive psychotherapy (Stone 1977). Characterizations based on genetic considerations may have their limitations, since the genetics of these disorders probably involve complex interactions of a variety of factors that may be more or less specifically related to other major diagnostic groups.

Adoption↗
PubMed1992

Identifying genetic determinants in human essential hypertension.

Genetic factors play an important role in the pathophysiology of human essential hypertension. The remarkable success of molecular genetic techniques in identifying the basis for single gene disorders at the DNA level has encouraged investigators to apply similar techniques in an attempt to identify blood pressure genes. In contrast to single gene disorders, however, the study of blood pressure is complicated by its quantitative, complex, heterogeneous, and polygenic nature. This article examines current methods and strategies for identifying genetic determinants in human hypertension. The availability of highly polymorphic markers, the advances in quantitative trait analysis, and the mapping of blood pressure-determining genes in a polygenic rat model of hypertension suggest that molecular genetic research in human hypertension has come of age.

Animals↗
PubMed2000

Genetic determination of Colles' fracture and differential bone mass in women with and without Colles' fracture.

Osteoporotic fractures (OFs) are a major public health problem. Direct evidence of the importance and, particularly, the magnitude of genetic determination of OF per se is essentially nonexistent. Colles' fractures (CFs) are a common type of OF. In a metropolitan white female population in the midwestern United States, we found significant genetic determination of CF. The prevalence (K) of CF is, respectively, 11.8% (+/- SE 0.7%) in 2471 proband women aged 65.55 years (0.21), 4.4% (0.3%) in 3803 sisters of the probands, and 14.6% (0.7%) in their mothers. The recurrence risk (K0), the probability that a woman will suffer CF if her mother has suffered CF is 0.155 (0.017). The recurrence risk (Ks), the probability that a sister of a proband woman will suffer CF given that her proband sister has suffered CF is 0.084 (0.012). The relative risk lambda (the ratio of the recurrence risk to K), which measures the degree of genetic determination of complex diseases such as CF, is 1.312 (0.145; lambda 0) for a woman with an affected mother and 1.885 (0.276; lambda s) for a woman with an affected sister. A lambda-value significantly greater than 1.0 indicates genetic determination of CF. The terms lambda 0 and lambda s are related to the genetic variances of CF. These parameters translate into a significant and moderately high heritability (0.254 [0.118]) for CF. These parameters were estimated by a maximum likelihood method that we developed, which provides a general tool for characterizing genetic determination of complex diseases. In addition, we found that women without CF had significantly higher bone mass (adjusted for important covariates such as age, weight, etc.) than women with CF.

Absorptiometry, Photon↗
PubMed1999

Differential lung mechanics are genetically determined in inbred murine strains.

Genetic determinants of lung structure and function have been demonstrated by differential phenotypes among inbred mice strains. For example, previous studies have reported phenotypic variation in baseline ventilatory measurements of standard inbred murine strains as well as segregant and nonsegregant offspring of C3H/HeJ (C3) and C57BL/6J (B6) progenitors. One purpose of the present study is to test the hypothesis that a genetic basis for differential baseline breathing pattern is due to variation in lung mechanical properties. Quasi-static pressure-volume curves were performed on standard and recombinant inbred strains to explore the interactive role of lung mechanics in determination of functional baseline ventilatory outcomes. At airway pressures between 0 and 30 cmH2O, lung volumes are significantly (P < 0.01) greater in C3 mice relative to the B6 and A/J strains. In addition, the B6C3F1/J offspring demonstrate lung mechanical properties significantly (P < 0.01) different from the C3 progenitor but not distinguishable from the B6 progenitor. With the use of recombinant inbred strains derived from C3 and B6 progenitors, cosegregation analysis between inspiratory timing and measurements of lung volume and compliance indicate that strain differences in baseline breathing pattern and pressure-volume relationships are not genetically associated. Although strain differences in lung volume and compliance between C3 and B6 mice are inheritable, this study supports a dissociation between differential inspiratory time at baseline, a trait linked to a putative genomic region on mouse chromosome 3, and differential lung mechanics among C3 and B6 progenitors and their progeny.

Animals↗
PubMed2001

Is disease severity in ankylosing spondylitis genetically determined?

OBJECTIVE: To assess the role of genes and the environment in determining the severity of ankylosing spondylitis. METHODS: One hundred seventy-three families with >1 case of ankylosing spondylitis were recruited (120 affected sibling pairs, 26 affected parent-child pairs, 20 families with both first- and second-degree relatives affected, and 7 families with only second-degree relatives affected), comprising a total of 384 affected individuals. Disease severity was assessed by the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) and functional impairment was determined using the Bath Ankylosing Spondylitis Functional Index (BASFI). Disease duration and age at onset were also studied. Variance-components modeling was used to determine the genetic and environmental components contributing to familiality of the traits examined, and complex segregation analysis was performed to assess different disease models. RESULTS: Both the disease activity and functional capacity as assessed by the BASDAI and the BASFI, respectively, were found to be highly familial (BASDAI familiality 0.51 [P = 10(-4)], BASFI familiality 0.68 [P = 3 x 10(-7)]). No significant shared environmental component was demonstrated to be associated with either the BASDAI or the BASFI. Including age at disease onset and duration of disease as covariates made no difference in the heritability assessments. A strong correlation was noted between the BASDAI and the BASFI (genetic correlation 0.9), suggesting the presence of shared determinants of these 2 measures. However, there was significant residual heritability for each measure independent of the other (BASFI residual heritability 0.48, BASDAI 0.36), perhaps indicating that not all genes influencing disease activity influence chronicity. No significant heritability of age at disease onset was found (heritability 0.18; P = 0.2). Segregation studies suggested the presence of a single major gene influencing the BASDAI and the BASFI. CONCLUSION: This study demonstrates a major genetic contribution to disease severity in ankylosing spondylitis. As with susceptibility to ankylosing spondylitis, shared environmental factors play little role in determining the disease severity.

Adolescent↗
PubMed2002

Activity of thalamic reticular neurons during spontaneous genetically determined spike and wave discharges.

This study reports the first intracellular recordings obtained during spontaneous, genetically determined spike and wave discharges (SWDs) in nucleus reticularis thalami (NRT) neurons from the genetic absence epilepsy rats from Strasbourg (GAERS), a model that closely reproduces the typical features of childhood absence seizures. A SWD started with a large hyperpolarization, which was independent of the preceding firing, and decreased in amplitude but did not reverse in polarity up to potentials >/= -90 mV. This hyperpolarization and the slowly decaying depolarization that terminated a SWD were unaffected by recording with KCl-filled electrodes. The prolonged (up to 15 action potentials), high-frequency bursts present during SWDs were tightly synchronized between adjacent neurons, correlated with the EEG spike component, and generated by a low-threshold Ca(2+) potential, which, in turn, was brought about by the summation of high-frequency, small-amplitude depolarizing potentials. Fast hyperpolarizing IPSPs were not detected either during or in the absence of SWDs. Recordings with KCl-filled electrodes, however, showed a more depolarized resting membrane potential and a higher background firing, whereas the SWD-associated bursts had a longer latency to the EEG spike and a lower intraburst frequency. This novel finding demonstrates that spontaneous genetically determined SWDs occur in the presence of intra-NRT lateral inhibition. The unmasking of these properties in the GAERS NRT confirms their unique association with spontaneous genetically determined SWDs and thus their likely involvement in the pathophysiological processes of the human condition.

Action Potentials↗
PubMed1989

Characterization of protective T cells in the acquired response to Leishmania donovani in genetically determined cure (H-2b) and noncure (H-2d) mouse strains.

The response to reinfection with Ethiopian Leishmania donovani was evaluated in genetically determined noncure (H-2d) B10.D2 mice that are able to resolve infection due to sublethal irradiation pretreatment after inoculation with a low parasite dose and in C57BL/10 mice that demonstrate the genetically determined cure (H-2b) response to L. donovani. It was found that after resolution of primary infection, C57BL/10 (cure) mice and sublethally irradiated B10.D2 (noncure) mice were resistant to rechallenge with L. donovani. Noncure mice inoculated with a low dose of amastigotes were not, however, solidly immune to reinfection. Adoptive-cell transfer experiments were then done to determine the T-cell subset that was associated with resistance to reinfection, and thus the development of immunity, in sublethally irradiated B10.D2 noncure mice and in C57BL/10 cure mice. T-cell-enriched preparations from spleens of immune donors were treated with subset-specific antibodies and complement prior to adoptive transfer in unprimed recipients. The results of the adoptive transfer experiments provide evidence that the genetically determined cure (H-2b) response in C57BL/10 mice and the cure response in genetically determined noncure (H-2d) B10.D2 mice brought about by sublethal irradiation pretreatment are mediated primarily by an L3T4+ Lyt-2- T cell.

Animals↗
PubMed1987

The prevention of genetically determined orthopaedic defects.

Prevention of genetically determined orthopaedic disorders requires five steps: detection, the establishment of an accurate and specific diagnosis, the establishment of the pattern of inheritance, counseling, and management by early treatment, avoidance of pregnancy, or elective abortion. Elective abortion should only be considered after the diagnosis has been confirmed in utero by one or more diagnostic tests, which include radiography, ultrasound, amniocentesis, fetoscopy, fetal blood sampling, and chorionic villi biopsy sampling.

Bone Diseases, Developmental↗
PubMed1986

Study on crop adhesion genetic determinant in Lactobacillus reuteri.

The genetic determinant responsible for adherence in one strain of Lactobacillus reuteri isolated from chicken crop has been investigated. After curing experiments carried out on this strain, a plasmid-free derivative was obtained, resulting unchanged as regards adhesion ability and carbohydrate fermentation pattern, but showing a loss of antibiotic resistances. It is suggested a possible localization on chromosome of adhesion determinant.

Adhesiveness↗
PubMed2005

Identifying novel genetic determinants of hemostatic balance.

Incomplete penetrance and variable expressivity confound the diagnosis and therapy of most inherited thrombotic and hemorrhagic disorders. For many of these diseases, some or most of this variability is determined by genetic modifiers distinct from the primary disease gene itself. Clues toward identifying such modifier genes may come from studying rare Mendelian disorders of hemostasis. Examples include identification of the cause of combined factor V and VIII deficiency as mutations in the ER Golgi intermediate compartment proteins LMAN1 and MCFD2. These proteins form a cargo receptor that facilitates the transport of factors V and VIII, and presumably other proteins, from the ER to the Golgi. A similar positional cloning approach identified ADAMTS-13 as the gene responsible for familial TTP. Along with the work of many other groups, these findings identified VWF proteolysis by ADAMTS-13 as a key regulatory pathway for hemostasis. Recent advances in mouse genetics also provide powerful tools for the identification of novel genes contributing to hemostatic balance. Genetic studies of inbred mouse lines with unusually high and unusually low plasma VWF levels identified polymorphic variation in the expression of a glycosyltransferase gene, Galgt2, as an important determinant of plasma VWF levels in the mouse. Ongoing studies in mice genetically engineered to carry the factor V Leiden mutation may similarly identify novel genes contributing to thrombosis risk in humans.

ADAM Proteins↗
PubMed1997

Evidence for primary genetic determination of heart rate regulation: chromosomal mapping of a genetic locus in the rat.

BACKGROUND: We investigated whether an accelerated heart rate (HR), observed in the stroke-prone spontaneously hypertensive rat (SHRSP(HD)), is a primary, genetically determined trait and whether it contributes to blood pressure (BP) regulation in this model of polygenic hypertension. METHODS AND RESULTS: We measured BP and HR in SHRSP(HD) and normotensive Wistar-Kyoto rats (WKY), as well as in F2 hybrids bred from crossing the two strains, at baseline and after 12 days of dietary NaCl loading. Random marker genome screening and cosegregation analysis were performed on F2 hybrids derived from SHRSP(HD)/WKY-0(HD) (n=115) and SHRSP(HD)/WKY-1(HD) (n=139) crosses (WKY-0(HD) and WKY-1(HD) are two congenic WKY strains). HR in SHRSP(HD) was significantly higher than in WKY-0(HD) both at baseline (404+/-30 versus 375+/-46 bpm; P=.0034) and after NaCl (437+/-23 versus 364+/-40 bpm; P=10(-9)). BP in F2 hybrids showed no significant correlation with HR either at baseline or after NaCl loading. HR after NaCl loading but not at baseline was significantly linked in a recessive fashion to a locus on chromosome 3: in animals homozygous for the SHRSP(HD) allele, HR was 414+/-49 compared with 383+/-44 bpm in heterozygotes and WKY homozygotes (F(210,1)=19.7, P=1.4x10(-5), lod score=5.9). The putative BP-relevant gene at this locus, termed HR-SP1, showed no evidence of linkage to any of the BP parameters measured. CONCLUSIONS: Our results demonstrate that a genetic locus on rat chromosome 3, HR-SP1, contributes directly to the regulation of HR in SHRSP(HD) but exhibits no effect on BP. Thus, in addition to its modulation by reflex-mediated neurohumoral mechanisms, HR is also under the direct influence of primary genetic factors.

Analysis of Variance↗