Search

Our objective was to clarify how different groups of chronic morbidities are associated with indices of body composition, such as body mass index (BMI), waist circumference (WC), waist to hip ratio (WHR), skinfold index (SF), and fat-free mass index (FFMI). Our sample comprised Chuvasha residing in numerous villages in a rural area of the Russian Federation. The investigated cohort included 787 males aged 18-89 years, and 716 females aged 18-90 years. We performed a cross-sectional, community-based study of a large sample of individuals not receiving any medications for treatment or prevention of chronic morbidities. To elucidate the association between morbidity and age-adjusted anthropometrical indices, we used one-way analysis of variance, wherein the above indices were the dependent variables, while individuals affected vs. nonaffected for a specific disease were the grouping variables. Individuals with ischemic heart disease, diabetes mellitus, hypertension, and peptic ulcer showed significant differences in their BMI, WC, WHR, and SF. In the first diseases, mean values of anthropometric indices were higher in affected individuals, whereas in the peptic ulcer group, mean values were higher in the nonaffected. Skin diseases and gynecological diseases showed significant differences in WHR. Mean values in affected individuals were lower than in the nonaffected. The group afflicted with local forms of arthritis showed significant differences in FFMI, suggesting that arthritis is not linked to obesity, but is linked to high lean mass. Rheumatic diseases positively correlated with WC and FFMI.

Osseographic score (OSS) is a skeletal biomarker of biological aging, based on assessment of the hand's radiographic features. The aims of the present cross-sectional and follow-up study were: 1) to evaluate age-related changes of OSS in a large Chuvashian cohort, and 2) to evaluate sex differences in age-related changes of OSS. This study reports on intersexual differences in the pattern of skeletal aging. The most prominent difference was in the rate of skeletal change, measured as average OSS difference per year. However, no differences were found in the age at which the first skeletal change occurred. The mean values of OSS were higher in males than in females in decades 3-5 of life, but afterwards they reversed. In a follow-up study, we found that sex differences regarding the rate of OSS change began in the fifth decade, but became statistically significant only in the sixth and seventh decades. Thereafter, the rate of OSS change again became virtually equal between sexes.

Objectives. – to assess quantitatively the relative contribution of joint degeneration characteristics such as osteophytes (OS), joint space narrowing (JS), subchondral sclerosis (SS), subchondral cysts (SC), lateral deformity (LD) and cortical collapse (CC) to the Kellgren and Lawrence (K–L) score grade of hand osteoarthritis (OA). Methods. – Radiographs of both hands were taken from 1245 study participants, native Chuvasha, Russian Federation. K–L score and the six above-mentioned characteristics were assessed on 15 joints of each hand. Multiple regression and correlation analyses were performed: for rows of hand joints and groups of thumb joints, and for the aforementioned rows but assigned into six age groups. Results and Conclusions. – According to the K–L grading system the relative contribution of OS to joint degeneration was high in all stages of the process. JS and SS played an important role in determining the K–L score in persons younger than 40 but less so in older people. Conversely, influence of SC and LD is insignificant at the onset of OA (i.e., in young persons), yet in older people it was a leading determinant of the K–L score. CC exerts no influence on the K–L score of OA.

Monocyte chemoattractant protein-1 (MCP-1) is a chemokine whose circulating levels have been detected in the lesions of several diseases such as pulmonary fibrosis, rheumatoid arthritis and atherosclerosis. However, the factors involved in the regulation of its production remain largely unknown. The main aim of the present paper was to ascertain the contribution of the familial/genetic factors on the production of MCP-1 in apparently healthy individuals. We also tested the possible relationships between the plasma levels of MCP-1 and other cytokines involved in bone metabolism (receptor activator NF-kB ligand (RANKL), osteoprotegerin (OPG), interleukin-6, macrophage-colony stimulating factor, tumor necrosis factor-alpha). Using ELISA assays the cytokine levels were measured in 570 apparently healthy individuals belonging to ethnically homogeneous Caucasian families. We found that MCP-1 levels were significantly (P

Dermatoglyphics is widely used as a genetically determined trait in anthropogenetics although the genetic nature of its inheritance is still inconclusive, due to the lack of any established genetic model to resolve the existing inconsistencies in the literature. However, advanced statistical packages for complex segregation analyses are available and the aim of the present study is to determine the mode of dermatoglyphic trait inheritance in five different ethnic populations.Five hundred families (2435 individuals) of two generations were used for principal component analysis, familial correlation and segregation analysis (package MAN-5).The similarity of three factors suggests a common internal structure. Significant familial correlation (except spouse) indicates the involvement of a familial component in the variation of dermatoglyphic traits. Segregation analyses suggest the transmission of a genetic effect in the families which follows the Mendelian model and confirms a major gene effect on factor 1 and factor 2 with two co-dominant alleles. There is no evidence of a major gene effect or environmental effect on factor 3 (a-b ridge counts). The nature of transmission and trait variance (H2) strongly supports the existence of a common nature of dermatoglyphic trait inheritance in populations, irrespective of ethnic and geographic area.Major gene involvement in finger dermatoglyphics according to Mendelian models is confirmed.

We performed a family-based association study to test the hypothesis that genetic variation at the human orthologue of the mouse progressive ankylosis gene (ANKH) is involved in determining bone size (BS) and bone geometry (BG). The study population comprised 126 nuclear families with 574 adult Chuvashian individuals living in small villages in the Russian Federation. Quantitative bone traits were determined by analyzing plain hand radiographs. Familial correlations for all studied traits revealed a high degree of heritability in this ethnically homogeneous population. Three simple tandem repeat (STR) polymorphisms, one intragenic and two flanking markers, as well as six single nucleotide polymorphisms (SNPs) were tested. The SNPs were detected by re-sequencing experiments and covered ANKH exons with their flanking splice sites and the promoter region. We used three different transmission disequilibrium tests (TDTs) and obtained multiple significant association signals for all investigated bone traits. Alleles of several markers located at different positions of the ANKH locus, including the promoter, consistently revealed the association. The bone traits tested are closely related to bone fragility suggesting a role for ANKH in osteoporosis.

The present study is carried out to evaluate the effect of chromosomal morbidity (82% are 47XXY and in the remaining cases there is the extra X and/or Y) in the males with Klinefelter’s syndrome, based on dermatoglyphic traits and indices of diversity and asymmetry. The main objectives of the present study is to find dermatoglyphic traits and fluctuating asymmetry indices which could be “marker traits” and could indicate the degree of developmental instability of the organism. The sample of males with Klinefelter’s syndrome (N=171) was collected in the Institute of Human Genetics of Sheba Medical Center, Ramat-Gan, Israel, by Professor Bat-Miriam Katznelson during 20 years, between 1968–1988. All patients were confirmed by chromosomal examination. The finger and palm prints were collected with the aid of pads manufactured by Lamedco Inc., Knoxville, Tennessee, U.S.A. Interpretation of the prints was according to Cummins and Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurements of distances sum of and angles in the palms. 79 dermatoglyphic variables for every patient: 28 continuous traits, 9 discrete traits, 11 indices of intra-individual diversity, 15 indices of directional asymmetry and 16 indices of fluctuating asymmetry were estimated. The problem of asymmetry, fluctuating and directional and of intraindividual diversity of quantitative dermatoglyphic traits is reviewed here as well as illustrated by data obtained on a sample of healthy control group of Jews from Israel. In this first part of our paper we will discuss the data on individual dermatoglyphic traits on digits and palms. The second part will be dedicated to multivariate analysis in order to compare between Klinefelter’s syndrome and control healthy individuals based on quantitative dermatoglyphic traits and indices of diversity and asymmetry.

The relationship between blood pressure (BP) and anthropometrical characteristics has been indeed examined extensively, but only a few studies have investigated any connection of somatotypes to BP.to evaluate the association between BP and various anthropometrical characteristics, including components of somatotypes (using the methods of Heath and Carter and of Deriabin).The study sample comprised 783 males aged 18-89 years and 720 females aged 18-90 years, all residents of the Chuvasha, Russian Federation. We used multiple regression, Pearson's and canonical correlation analyses.Significant correlations (r = 0.19-0.28, p0.05) were obtained between BP and anthropometric characteristics associated with body compositions and somatotypes. The most impressive were the canonical correlations between BP and somatotype components derived according to Heath and Carter (0.275), and according to Deriabin's (0.333) method. Different body types were highly significantly (P0.001) associated with systolic and diastolic BP.Individuals of robust physique (with high endomorphy and mesomorphy) showed high mean values of systolic and diastolic BP, whereas the smallest persons had the lowest BP values. These findings suggest the existence of common physiological paths in the development of body physique and blood pressure regulation and may possibly be indicative of the involvement of pleiotropic genetic and/or epigenetic mechanisms in this regulation.

OBJECTIVES: To determine the ranges of variation of circulating receptor activator of nuclear factor-kappaB ligand (RANKL)/osteoprotegerin (OPG)/macrophage-colony stimulating factor(M-CSF) and to ascertain their potential relationships with age, sex and menopausal status in women, and with sex hormones in a population-based healthy cohort. SUBJECTS AND METHODS: Blood samples were collected with EDTA after an overnight fast. The plasma levels of each of the above biochemical indices were measured by ELISA in a total of 566 apparently healthy individuals aged 18-75 years. RESULTS: The plasma concentrations of cytokine molecules in the entire sample ranged from 674 to 4929 pg/ml for OPG, from 105 to 4468 pg/ml for soluble RANKL (sRANKL), and from 187 to 7604 pg/ml for M-CSF. The OPG levels demonstrated a clear positive correlation with age in both sexes (r=0.42 and 0.43, P

Objective : The aims of the present study were: (1) to evaluate the extent and mode of inheritance of hand osteoarthritis by using a large sample of ethnically homogeneous pedigrees of Caucasian origin; (2) to examine whether the synthetic measure of osteoarthritis according to Kellgren and Lawrence (K–L) and the more specific measure, namely, the extent of osteophytes development, have a similar putative genetic determination and pattern of biological inheritance and (3) to test the hypothesis that hand osteoarthritis dependent phenotypes are linked to the 11q 12-13 chromosomal region. Methods : The population of the present study comprised 1190 Chuvashians (Russian Federation) belonging to 295 nuclear families. Segregation analysis was carried out on a total sample. Sub-sample of 571 individuals was used to conduct Transmission/disequilibrium test (TDT) and model-based linkage analysis. Results : Adjusted for age, sex and other covariates, both OA phenotypes showed significant familial aggregation. The model fitting analysis strongly supported the hypothesis of a major gene effect on study traits. The inferred major gene explained about 52% of the osteophyte score (OPS) and 49% of the K–L score variation adjusted for confounding variables. The series of model-based linkage analyses and TDTs provided inconclusive evidence on possible linkage of both phenotypes to the 11q 12-13 chromosomal region. Conclusions : We support the hypothesis of a major gene effect in heritability of hand osteoarthritis in both phenotypes. Despite the fact that some DNA markers showed statistically significant association to studied primary phenotypes, we find only weak evidence of linkage disequilibrium between hand osteoarthritis and the proximal part of the 11q 12-13 chromosomal segment (D11S1983 for K–L score and D11S1313 for OPS). The subject, however, a merit requires further investigation.

Leptin is secreted primarily by the adipocytes and plays an important role in the regulation of food intake and energy expenditure. In addition to its adipostatic function, it has been demonstrated that leptin directly enhances stromal cell differentiation to osteoblasts, and since such precursor cells are potential targets for leptin, the latter could possibly mediate the relationship between obesity and bone mass and size. To address this question, we studied phenotypic and genetic correlations between the circulating levels of leptin and hand bone size (BS) and geometry (BG) of the radiographic hand in a healthy and ethnically homogeneous sample of pedigrees. We also attempted to evaluate to what extent potential leptin/BS/BG correlations are modified by an individual's obesity traits, specifically his/her BMI. Our research has shown that leptin, BMI and the corresponding bone measures are clearly inherited traits (0.46+/-0.11, 0.35+/-0.16, 0.62+/-0.12 and 0.51+/-0.09, respectively). The bivariate variance component analysis revealed very strong and significant genetic and environmental correlations between circulating leptin and BMI ( r(G)=0.86+/-0.09, r(E)=0.75+/-0.05, P0.001). Furthermore, genetic correlations between leptin and hand bone characteristics proved inverse and statistically significant ( r(G)=-0.35+/-0.01 and -0.45+/-0.10 for BS and BG, respectively), while corresponding environmental correlations were low ( r(E)=-0.14+/-0.15 and -0.07+/-0.14) and they could be constrained to zero without significant deterioration of the model fit to the data ( P0.10). However, despite the extremely strong relationship between leptin and BMI, we failed to detect phenotypic or genetic correlations between BMI and our two hand bone measures. Thus our study provided evidence that plasma leptin levels may be statistically significant predictor of hand bone size and geometry, and may play a physiological role in maintaining bone mass as well as in regulation of hand bone proportions.

Estrogen receptor alpha (ER alpha) and collagen IA1 (COLIA1) genes have been suggested as possibly implicated in reduced bone mineral density (BMD). The present study investigated the occurrence of association and linkage disequilibrium between radiographic hand BMD and polymorphic alleles of ER alpha and COLIA1 genes, in human pedigrees of a Chuvasha population in Russia. The study sample included 463 members of 113 pedigrees, mostly nuclear families. We performed association and transmission disequilibrium test (TDT) analyses of the combined PvuII and XbaI RFLPs alleles on the same chromosome (haplotype) of the ER alpha gene with BMD Z scores of cancellous or cortical bone in the hand phalanges. The association analyses were performed separately for both genders in the parental generation, i.e., 'fathers' (n = 114; average age 64.2 y) and 'mothers' (n = 122; average age 62.7 y). The Px haplotype was associated significantly with lower BMD Z scores in 'mothers' only. The difference between subjects who carried one or two copies of the Px haplotype and those lacking it was 0.68 Z scores, P = 0.003 and 0.51 Z scores, P = 0.025 for cancellous and cortical bone, respectively. Multiple linear regression model with age, height, weight, and Px haplotype status as predictors explained 26.7% and 28.3% of the total observed variance in BMD with Px haplotype as independent predictor explaining 5.9%; P = 0.002 and 3%; P = 0.028 (cancellous and cortical bone, respectively). Results of t-TDT for triads of two parents and just one of their female offspring (but not male offspring) suggested the existence of linkage disequilibrium between the two loci of Px haplotype and BMD trait (P = 0.047). No association was found between polymorphic alleles of COLIA1 gene and BMD, but 'mothers' with combined genotypes of Px haplotype of ER alpha gene and "s" allele of COLIA1 gene had the lowest mean Z scores (-0.944 and -0.788 for cancellous and cortical bone, respectively). We conclude that the Px haplotype of the ER alpha gene is associated with low BMD values in females, as the phenotype is gender dependent (the association was not observed in males), and the "s" allele of COLIA1 gene in combination with this haplotype contributes to reduced BMD.

This study attempted to elucidate the genetic and environmental factors influencing interindividual variation of circulating TIMP-1, TIMP-2 and TGF-beta1 and to clarify the relationship between the latter biochemical indices and hand osteoarthritis in an ethnically homogeneous sample. Plasma levels of each of the above biochemical indices were measured in 401 healthy individuals (aged 18-75 years) belonging to 90 nuclear and more complex families. Variance component analysis showed that a major part of the interindividual differences in TGF-beta1, TIMP-1 and TIMP-2 levels was credibly attributable to genetic and familial factors. Adjusted for significant covariates, the putative genetic effects on the above three amounted to 0.40 +/- 0.10, 0.47 +/- 0.11 and 0.72 +/- 0.10, respectively. Common environmental factors, shared by members of the same household, also contributed significantly ( P < 0.01) to variation of each of the biochemical indices and explained between 27.6% (TIMP-2) and 38.7% (TGF-beta1) of their variation. A bivariate analysis revealed a strong and highly significant correlation between TIMP-1 and TGF-beta1 (r = 0.58, P < 0.001), which was due to common genetic and environmental sources (r(G) = 0.62 +/- 0.09, r(E) = 0.31 +/- 0.11, both P < 0.001). The analysis also detected modest but significant genetic correlation between TIMP-1 and TIMP-2 (r(G) = -0.307 +/- 0.108, P < 0.01). The present study evinces a strong genetic dependence for the plasma levels of both TIMPs and TGF-beta1 and provides a basis for the further analysis of genetic variation affecting and regulating the circulatory concentrations of TIMPs and TGF-beta1 in healthy humans.

Using plain hand radiographs, the age dependence of various bone-aging traits (bone mineral density [BMD], cortical index [CI], osteoarthritis [OA], and osseographic [OSS] scores) was evaluated to test whether the correlation among these traits is an individual- or population-based phenomenon. In addition, the effect of anthropometric features on variation of bone-aging traits was estimated. The study included 1,295 individuals from Chuvasha, Russia, 18 to 89 years. BMD was measured from the compact compartment of the middle and distal phalanges of both 3rd fingers. The CI of the II–IV metacarpal bones and II–IV proximal phalanges was obtained. The development of OA was based on the standard Kellgren and Lawrence grading scheme for 28 hand joints. OSS score, a surrogate measure that takes into account different kinds of bone changes, was also obtained for each individual. Body weight and height, eight skinfold thicknesses on the trunk and extremities, and breadths of the long bones were measured. Sex-based univariate analyses and multivariate statistical analysis showed the following: 1) Age dependence was defined more strongly in “OA-linked” compared to “osteoporosis (OP)-linked” traits; 2) While “OP-linked” bone-aging traits correlated with age differently between sexes, “OA-linked” traits did not; 3) The strong interrelationship between OA-linked and OP-linked traits in both sexes became very weak and statistically insignificant (P > 0.10) after adjustment for age. Thus, OA and OP conditions in the same individual develop independently and probably reflect different underlying physiological mechanisms. 4) Anthropometric characteristics were significantly correlated with bone-aging traits, but correlations were low (r < 0.20). Thus, the contribution of anthropometric characteristics to the rate and pattern of bone aging of the hand was to relatively small. Am. J. Hum. Biol. 14:380–390, 2002. © 2002 Wiley-Liss, Inc.

The study of the genetic component in morphological variables such as body height and weight, head and chest circumference, etc. has a rather long history. However, only a few studies investigated body proportions and configuration.The major aim of the present study was to evaluate the extent of the possible genetic effects on the inter-individual variation of a number of body configuration indices amenable to clear functional interpretation.Two ethnically different pedigree samples were used in the study: (1) Turkmenians (805 individuals) from Central Asia, and (2) Chuvasha (732 individuals) from the Volga riverside, Russian Federation. To achieve the aim of the present study we proposed three new indices, which were subjected to a statistical-genetic analysis using modified version of "FISHER" software. The proposed indices were: (1) an integral index of torso volume (IND#1), an index reflecting a predisposition of body proportions to maintain a balance in a vertical position (IND#2), and an index of skeletal extremities volume (IND#3). Additionally, the first two principal factors (PF1 and PF2) obtained on 19 measurements of body length and breadth were subjected to genetic analysis. Variance decomposition analysis that simultaneously assess the contribution of gender, age, additive genetic effects and effects of environment shared by the nuclear family members, was applied to fit variation of the above three indices, and PF1 and PF2.The raw familial correlation of all study traits and in both samples showed: (1) all marital correlations did not differ significantly from zero; (2) parent-offspring and sibling correlations were all positive and statistically significant. The parameter estimates obtained in variance analyses showed that from 40% to 75% of inter-individual variation of the studied traits (adjusted for age and sex) were attributable to genetic effects. For PF1 and PF2 in both samples, and for IND#2 (in Chuvasha pedigrees), significant common sib environmental effects were also detectable.Genetic factors substantially influence inter-individual differences in body shape and configuration in two studied samples. However, further studies are needed to clarify the extent of pleiotropy and epigenetic effects on various facets of the human physique.

Current applications of bone mineral density (BMD) data in age studies are not free of certain drawbacks. Since it is well established that age-related patterns of BMD changes involve three distinct periods (bone acquisition in youth, stabilization at maturity, and decrease with ageing), adjusting for age via an inappropriate mathematical function may lead to inconsistencies and wrong conclusions.The piecewise model, which encompasses the above three periods, will accurately describe the BMD dependence on age.To examine age-related patterns of BMD changes using a number of possible mathematical functions and to find among them the best-fitting function. Next, to test whether the chosen function is universally applicable or if there are diverse population-specific functions.Thirteen ethnic samples from various regions of Europe and Asia, assigned into five ethnic-geographic groups, were examined. The total sample included 2430 males and 2515 females. Compact BMD of hand phalanges was measured by photodensitometry from plain radiographs of each individual studied. Statistical software was developed for the purposes of the present study; this software gave a maximum likelihood of the parameter estimates for various statistical models (functions).In all samples of sufficient size and representative age range, a two-interval function was found as the best fitting and most parsimonious model to describe the BMD age-related changes. This two-interval function was characterized by age-related bone mass increase, positive slope beta(1s) in young age or a plateau (beta(1s) = 0, i.e. no age-related changes) until a sex-specific age threshold, T(0), after which annual bone loss ensued with a slope coefficient beta(2s). Threshold of BMD loss in women of different ethnic groups ranged between 37.85 and 47.77 years, and roughly coincided with perimenopausal age. In males, the age T(0) varied between 27.85 and 49.07 years. The ensuing cortical bone loss appeared to be linear in both sexes, averaging between 0.51% and 1.15% in men and between 0.74% and 1.77% per year of young age BMD value in females.The change of phalangeal BMD with age may be best described by a two-interval function, regardless of sex and ethnic background. However, specific parameter estimates depend both on gender and ethnic affiliation. This study has yielded a well-fitted model of BMD dependence on age suitable for further use in population studies.

The complex segregation analyses performed in our previous studies revealed a significant major gene (MG) effect on the age-adjusted cortical and cancellous bone mineral density (BMD) in two ethnically different populations, Chuvasha and Turkmenians. The aim of the present study was to test the hypothesis of pleiotropic MG control of three components of bone aging, that is, the baseline level of BMD (mu(gs)), the age at onset of the bone mass loss (T(gs)), and the rate of this loss over the years (alpha(gs)). Nuclear and more complex pedigrees from the same two ethnic samples were assessed for hand phalangeal BMD (Chuvasha, 1208 individuals, and Turkmenians, 643 individuals), and complex segregational analysis incorporating age and sex effects directly into MG penetrance function was carried out. The results of the present analysis clearly confirmed the existence of the putative MG and showed that the proportion of BMD variation attributable to this MG effect within the sex was remarkably similar in both populations and ranged between 34.7% and 35.2%. The most parsimonious model for BMD transmission in Chuvasha pedigrees additionally indicated significant residual correlation between siblings and clear sex differences in the annual rates of bone loss alpha(gs). The latter was more than twice as high in females than that in males (0.086 SD vs. 0.033 SD per year). In Turkmenian pedigrees the most parsimonious model presented obvious evidence of the MG control of BMD baseline levels in both sexes with significantly lower baseline levels and younger age at onset (T(gs)) in females. No clear MG effects were inferred on T(gs) and/or alpha(gs) in either sample, either in males or in females. That is, the present study does not suggest MG x SEX x AGE interaction. We suppose that if the rate of age-related changes in phalangeal BMD is genetically determined, then these are not the same genes as those affecting the BMD baseline levels.

The major aim of this study was to develop an accurate method of age prediction for a wide range of ages, based on the roentgenographic assessment of the hand bones, for use in paleoanthropology and forensic medicine. The roentgenographs of the hand bones were assessed in 5756 individuals, 2683 males and 3073 females, aged 17-93 and 17-89, respectively, belonging to 9 ethnic groups from the former USSR, Israel, and Sinai peninsula (Egypt). For each roentgenogram an equidistant osteographic score (OSS) including the descriptive criteria of bone age, such as (1) osteophytes or nodes of Heberden in the periarticular regions and at sites of tendon attachment, (2) manifestations of osteoporosis, (3) signs of sclerosis, and (4) non-traumatic articular deformities, was estimated. Regression analysis, that included linear, non-linear, logistic, and stochastic models, was used to evaluate the relationships between age and OSS. This relationship was best described by a logistic regression function. Results of the logistic regression analysis clearly indicate that OSS is a strong predictor of an individual's age, with r2 values ranging from 0.671 to 0.901 (p < 0.001). Our standard errors of estimate were ranging from +/- 4.2 to +/- 7.3 years, comparing favorably with most known methods of bone age assessment. This study provides an efficient method of age prediction, which allows to extend the upper limit of prediction to the age of 70 years with acceptable accuracy.

Cortical index (CI) is the ratio of the combined cortical thickness to the total diameter of the bone. It serves for the assessment of the geometric properties of bone and for indirect evaluation of bone mass. CI is a useful predictor of osteoporosis. The aim of the present study was to test the hypothesis of major gene control of CI variation in a large sample of pedigrees from Chuvashia, Russia. Complex segregation analysis revealed that the major gene model of CI inheritance is the best fitting and most parsimonious for the present data. Parameters of the genotype-gender specific dependence of CI variation on age were estimated simultaneously with other parameters in the segregation analysis. The results of analysis showed that not only the baseline level of CI but also the age at onset of the involutive bone changes (inflection point) and the rate of the CI decrease with age (slope coefficient) are under control of the same major gene. Non-major gene effects shared by pedigree members (residual familial correlations) were found to be statistically insignificant. Approximately 73% of inter-individual variation in CI was attributable to the effects explicitly included in the model.

The present study was carried out in order to evaluate the effect of chromosomal morbidity (trisomy 21) in males and females with Down's Syndrome (DS) based on dermatoglyphic traits (DT) and their indices of diversity and asymmetry. The results were compared between parents and control groups of women and men whose data are detailed in our publication (Kobyliansky et al. 1999). The general aim of the study was to explore the possibility of using DT of the parents of DS patients to predict the likelihood of the disease appearing in the offspring. The samples were of DS patients (198 males and 140 females) and their parents (84 fathers and 153 mothers), all Israeli Jews. The prints were collected in the Genetic Institute of the Sheba Hospital, Ramat-Gan, Israel, and were validated by chromosomal examination. Interpretation of the prints was done according to Cummins & Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurements of distances and angles in the palm of the hands; 79 DT for every individual: 28 continuous traits, 9 discrete traits, 11 indices of intraindividual diversity (Div), 15 indices of directional asymmetry (DA) and 16 indices of fluctuating asymmetry (FA) were estimated. This study supports the hypothesis that the magnitude of FA in groups with low developmental stability (groups with chromosomal aberrations) or other birth defects, is elevated, compared with FA in healthy controls. The present study found proof of the existence of an additive genetic component in the FA of DT, while an increased FA was observed in parents of DS patients in comparison to control groups. The DT which are typical to DS patients were confirmed also in parents. The decrease in sexual dimorphism of the DT was found in DS patients and their parents in comparison with the control.

The major aim of this study was to test three hypotheses: 1) more complex traits of the hand are less prone to developmental insults and therefore show lower fluctuating asymmetry (FA) as compared with simple traits; 2) the manifestation of FA correlates with the variability of the trait (i.e., CV); and 3) FA is an organ-wide property, and therefore a concordance exists between the FA measures of different traits in hand bones. Seventy-two bilateral measurements of hand bones, were made from plain-film radiographs of 365 cadavers. A complex trait was considered as the total length of the three phalanges of a finger and their contiguous metacarpals. Simple traits were considered to be the lengths of individual bone that made up the complex trait. The following results were obtained: 1) on the average simple traits, composing the complex trait, show much higher FA than the corresponding complex trait, but this result is expected if there is no correlation (or low correlation) between FA of simple traits within the complex trait, due to random direction of right-left differences; 2) strong and highly significant correlation was observed between FA and CV of studied traits, regardless of sex and age of individuals; and 3) the majority of FA measurements of hand bones showed no correlation. However, correlations between some sets of FA traits were highly significant. They were interpreted, although not specifically tested, as the result of a tight relationship between traits related not only developmentally but also by active performance of the same function. Am J Phys Anthropol 107:125–136, 1998. © 1998 Wiley-Liss, Inc.

Hand radiograms for osseographic assessment of bone aging status were taken from more than 7,500 individuals residing in 31 different localities and belonging to 20 ethnic groups. Multiple regression analysis was used to evaluate possible associations between bone aging parameters and several climatic factors, to wit: hours of daylight in January and July, average monthly humidity and partial vapor pressure in January and July, and one climatic index pertaining to comfort conditions in life, namely, the Bioclimatic Index of Severity of Climatic Regime. Multiple regression analysis clearly pointed to significant correlations between climatic characteristics and indices defining the relative rate of bone aging in humans; it also evinced an independent contribution of July's humidity and January's mean temperature to earliest age at which first signs of bone aging can be found. In sum, there are grounds for concluding that temperature and humidity are key factors in triggering initial bone changes in individuals within the human populations prone to environmental effects. The combination of humidity and temperature with other factors which reflect the sharpness of the interseasonal differences in climatic conditions predispose the populations to early onset of bone changes.

Pedigree samples were collected from five ethnically and geographically different populations: Kirghizians, Turkmenians, Chuvashians, Israelis and Mexicans. All studied individuals were assessed for body height, weight and BMI. The sample size in the studied pedigrees ranged from 381 to 1811 individuals. Segregation analysis of these traits preliminarily adjusted for sex and age was performed by means of program package MAN that provides parameter estimates for the major gene effects, for the residual within the genotype correlations between relatives and for the assortative mating. By the usual transmission probability tests, the 'environmental' model was strongly rejected for all measured traits in all 5 populations. The major gene mode of inheritance, however, was accepted for all traits. The results of analysis in 5 populations were remarkably similar, and showed that except for Mexican sample, the proportion of variance attributable to major gene effect ranged between 37 and 53% for body weight and height. In the Mexican sample it explained only about 14% of the body weight variation. The proportion of inter-individual variation in BMI attributable to major gene effect was consistently lower in all populations in comparison with height and weight and ranged between 17 and 40%. Strong assortative mating in body height, as estimated by correlation between putative major gene genotypes in spouses, was found in four populations, not including Mexican pedigrees.

The present study utilized pedigree data from three ethnically different populations of Kirghizstan, Turkmenia and Chuvasha. Principal component analysis was performed on a matrix of genetic correlations between 22 measures of adiposity, including skinfolds, circumferences and indices. Findings are summarized as follows: (1) All three genetic matrices were not positive definite and the first four factors retained even after exclusion RG > or = 1.0, explained from 88% to 97% of the total additive genetic variation in the 22 trials studied. This clearly emphasizes the massive involvement of pleiotropic gene effects in the variability of adiposity traits. (2) Despite the quite natural differences in pairwise correlations between the adiposity traits in the three ethnically different samples under study, factor analysis revealed a common basic pattern of covariability for the adiposity traits. In each of the three samples, four genetic factors were retained, namely, the amount of subcutaneous fat, the total body obesity, the pattern of distribution of subcutaneous fat and the central adiposity distribution. (3) Genetic correlations between the retained four factors were virtually non-existent, suggesting that several independent genetic sources may be governing the variation of adiposity traits. (4) Variance decomposition analysis on the obtained genetic factors leaves no doubt regarding the substantial familial and (most probably genetic) effects on variation of each factor in each studied population. The similarity of results in the three different samples indicates that the findings may be deemed valid and reliable descriptions of the genetic variation and covariation pattern of adiposity traits in the human species.

The genetic factors contribute significantly to the determination of dermatoglyphic traits is well established. However, the controversies in views and findings of this issue are still inconclusive. The present study is an attempt to evaluate the inheritance of quantitative dermatoglyphic traits with asymmetry (DA and FA) and diversity (Div) through sibling correlations. Data include 218 individuals from (88 families) in a small isolate, the nomadic tribe Muzeina with a high degree of consanguinity (0.09) from South Sinai. Statistical analyses include sibling correlations, cross-correlations and genetic correlation (GC) – a ratio of sibling cross-correlation between traits divided on square root of the both traits sibling correlation product. The familial correlation coefficients for quantitative dermatoglyphic traits are perhaps expected lower in such a small isolated and consanguineous population than our previous studied in Indian populations and Chuvashian populations from Russia. These results indicate a simpler genetic basis due to high degree (0.09 inbreeding coefficient) of consanguinity in Muzeina Bedouin tribe. There is no evidence of major gene involvement, although a little genetic effect obtained from familial correlations on asymmetry (DA and FA) and diversity (Div) traits through sibling correlations. The significant interaction between sexes was found, which contradicts with the other populations perhaps due to high level of consanguinity. Lower correlation coefficients than in other non-consanguineous populations for quantitative dermatoglyphic traits indicate a simpler genetic basis due to high degree of inbreeding coefficient (0.09) in Muzeina. Dermatoglyphic asymmetry and diversity traits may be due to environmental factors rather than dominance in Bedouins, although a little genetic effect was found suggests a measure of developmental instability in human (FA).

The present study is carried out to evaluate the effect of chromosomal morbidity (45x/46xx or 45x/47xxx or 45x) in the females with Turner syndrome, based on dermatoglyphic traits and indices of diversity and asymmetry. The main objectives of the present study is to find dermatoglyphic traits and fluctuating asymmetry indices which could be "marker traits" and could indicate the degree of developmental instability of the organism. The sample of Turner females (N = 57) was collected in the Genetic Institute of Sheba Hospital, Tel Aviv, Israel, by Professor Bat-Miriam Katznelson during 20 years, between 1968-1988. All patients were checked by chromosomal examination and finger and palm prints were collected with the aid of pads manufactured by Lamedco Inc. Knoxville, Tennessee, U.S.A. Interpretation of the prints was according to Cummins & Midlo (1961) and Penrose (1968) and included identification of patterns, ridge counts and the measurements of distances and angles in the palms. 79 dermatoglyphic variables for every patient: 28 continuous traits, 9 discrete traits, 11 indices of intraindividual diversity, 15 indices of directional asymmetry and 16 indices of fluctuating asymmetry were estimated. The problem of asymmetry, fluctuating and directional and of intraindividual diversity of quantitative dermatoglyphic traits is here reviewed as well as illustrated by data obtained on a sample of healthy control group of Jews from Israel.

Dermatoglyphic asymmetry and diversity traits from a large number of twins (MZ and DZ) were analyzed based on principal factors to evaluate genetic effects and common familial environmental influences on twin data by the use of maximum likelihood-based Variance decomposition analysis. Sample consists of monozygotic (MZ) twins of two sexes (102 male pairs and 138 female pairs) and 120 pairs of dizygotic (DZ) female twins. All asymmetry (DA and FA) and diversity of dermatoglyphic traits were clearly separated into factors. These are perfectly corroborated with the earlier studies 1–3 in different ethnic populations, which indicate a common biological validity perhaps exists of the underlying component structures of dermatoglyphic characters. Our heritability result in twins clearly showed that DA_F2 is inherited mostly in dominant type (28.0%) and FA_F1 is additive (60.7%), but no significant difference in sexes was observed for these factors. Inheritance is also very prominent in diversity Factor 1, which is exactly corroborated with our previous findings4. The present results are similar with the earlier results of finger ridge count diversity in twin data5, which suggested that finger ridge count diversity is under genetic control.

The genetic component in a mixed heritability model, including major gene, multifactorial and sibling environment transmissible components, was studied for some 20 anthropometric traits in two ethnically different samples. The first sample comprised 305 Mexican nuclear families, and the second comprised 83 Ashkenazi Jewish nuclear families living in Israel. All variables, after adjustment for age and sex, were subjected to principal-components analysis (PCA) in each sample separately. The mixed model of inheritance as implemented in the computer program POINTER was used in the present study. An attempt was made to evaluate genetic effects in the variation of the first principal components (PCs). PCA showed a clear separation of variables and was easily interpretable. The PC1 was a credibly general size factor. This factor alone accounted for about 30% of the total variance. Other components are rather shape factors for various combinations of traits. The testing of several genetic hypothesis showed the following: (1) For all factor scores the genetic component was high and statistically significant. (2) In a Mexican sample, for PC1 and PC2, both major gene and polygenes contributed significantly to the total variation of these variables; in the major locus the alleles were most probably codominant. (3) For all other PCs the major gene effect hypothesis was rejected, with more than 50% of the variation attributable to the polygenes contribution. (4) No evidence was found for sibling environmental resemblance in either sample.

This paper is based on the data obtained in the course of population studies conducted in 33 geographical regions of the former USSR territory by the faculty of the Anuchin Research Institute and Museum of Anthropology, Lomonosov Moscow State University, between 1961 and 1991. The data resulting from study of 4386 male and 4626 female subjects aged 17 to 99 include head and body morphology, bone mineral density, blood oxygen saturation and blood biochemistry. We aimed at studying the link between the traits of a population and the climatic conditions of the area inhabited by this population. Individual characteristics of the subjects were normalized by age and sex, and factor analysis was used to reduce the number of cross-correlating features. As a result, several integral characteristics (factors) were identified: five body morphology-related factors, two head morphology-related factors, one bone mineral density-related factor, one blood oxygen saturation-related factor and three blood biochemistry-related factors. These factors explained 79.3%, 78.38%, 63.51%, 74.4% and 66.77% of the trait groups' variability, respectively. The correlation analysis between these factors and climatic indicators demonstrated that chest dimensions were the least tolerant to the climatic conditions among the morphological characteristics studied. Hemoglobin-protein ratios, as well as the factor that includes total cholesterol, were the most climate-dependent among the biochemical parameters. As far as our data show, blood serum oxygen saturation--the key factor determining the performance of the cardiovascular and respiratory systems--is also climate-dependent.

to evaluate the association between 2D:4D finger length ratios (representing the prenatal environment, i.e., early androgen exposure) and reproductive indices, such as age at menarche, menopausal age, and length of reproductive period.Retrospective data on age at menarche and menopausal age as well as x-rays of both hands were obtained from 674 Chuvashian women aged 18-70 years (mean 46.32 ± 15.42). Finger and metacarpal length ratios as well as visual classification of finger ratio types, were estimated from the x-rays.We found that a low 2D:4D ratio (radiologically evaluated), a masculine 2D:4D ratio type (visually evaluated), and a putative bioassay for prenatal androgen exposure, were associated with a later menarche and a shorter reproductive period. No association was found with menopausal age.

The major aim of this study is to determine the mode of inheritance of asymmetry of quantitative dermatoglyphic traits based on principal factors through the application of complex segregation (genetic model fitting) analyses on a large ethnically homogeneous sample of 500 Indian pedigrees (2435 individuals) of two generations. By segregation analysis of the traits- PC1_FA both Mendelian and Environmental models were rejected (

The major objectives of the present study were to detect whether there are any differences in genetic blood markers distribution between the young and old Israeli population. We also investigated the question about the relationship between the genetic heterozygosity (H) and fluctuating asymmetry (FA) of an individual. The study sample consisted of 208 elderly people aged between 75 and 94 years old. Each individual was assessed for the same 18 anthropological traits, 8 of which were paired bilateral structures and 10 were size and mass measurements. Thirteen polymorphic gene markers were also taken from each individual. Most of the studied gene systems showed no inter-group (old sample vs 207 young individuals) differences. Significant differences were detected at ADA, ESD, GTP1 and FY loci. These differences were mainly due for the considerably lower frequency of the heterozygous individuals in elderly samples. Our working hypothesis at the next stage of the analysis were as follows: 1. Morphologically central phenotypes are more symmetric (processes lower FA) than morphologically extreme individuals. 2. There is a detectable negative correlation between the FA and individuals H. To study these questions we developed a multivariate measure of FA and morphological deviation of the individual from the population centroid. Yet, no reliable evidence in support of either of the two hypotheses were obtained.

Maternal malnutrition during pregnancy was shown by numerous studies to result in the birth of offspring exhibiting altered bone characteristics, which are indicative of bone loss. We hypothesized that not only maternal malnutrition but also some developmental toxicants (teratogens) given at a dose inducing neither structural anomalies nor growth retardation can detrimentally affect skeletal health in adult offspring. To check this hypothesis, pregnant mice were exposed to a single injection of 5-aza-2-deoxycytidine (5-AZA) (a teratogen capable of inducing phocomelia of the hind limbs) at a sub-threshold teratogenic dose. Micro-computed tomography scanning revealed that femora of 5-month-old male offspring exposed in uterus to 5-AZA had trabecular microarchitecture indicative of bone loss. Furthermore, exposure to 5-AZA increased the susceptibility of offspring to postnatal chronic mild stress, which has been shown to induce bone loss in mice. While exploring possible mechanisms underlying this phenomenon, we observed that the expression of some microRNAs, which have been demonstrated as regulators of key osteoblastogenic genes, was altered in hind limb buds of embryos exposed to 5-AZA. Furthermore, the expression of receptor activator of nuclear factor kappa B ligand (RANKL) in femoral stromal/osteoblastic cells of 5-month-old offspring of 5-AZA-treated females was found to be increased. Collectively, this study implies for the first time that single low-dose exposure to a teratogen can induce bone loss in adult offspring, possibly via alteration of embryonic microRNAs and RANKL expression.

The aim is to evaluate the association between the serum level of vitamin D and prevalence and severity of radiographic hand OA. The study population comprised Chuvashians (91 men with a mean age of 46.24 (20–75) and 99 women with a mean age of 44.94 (18–74)). OA was evaluated for 14 joints of each hand using Kellgren and Lawrence’s (K–L) scoring method and osteophytes (OS) scores. The following four outcomes were used: two indices of the number of affected joints (Num-KL and Num-OS) representing severity of hand OA and two indices of the presence of at least one affected joint (dichotomous indices) (Dich-KL and Dich-OS). Vitamin D (25(OH)D) level was assessed by radioimmunoassay. Statistical analyses included multiple linear and logistic regressions and one-way ANOVA. Linear regression models showed no significant association between the circulating levels of vitamin D and Num-KL (P = 0.781) or Num-OS (P = 0.338). The logistic regression models showed similar results: Dich-KL: (0.935 (0.864, 1.011), P = 0.093) and Dich-OS: (0.966 (0.896, 1.043), P = 0.378). Results of one-way ANOVA showed no differences in age, sex, and BMI-adjusted Num-KL between individuals with normal levels of vitamin D and those with a vitamin D deficiency (F = 0.023, P = 0.878). Similar results were received when adjusted Num-OS scores were compared (F = 1.553, P = 0.214). After adjustment for age, sex, and BMI, no association was found between the serum level of vitamin D and prevalence and severity of radiographic hand OA evaluated using K–L or osteophyte scores.

Digital patterns of a sample on twins were analyzed to estimate the resemblance between monozygotic (MZ) and dizygotic (DZ) twins and to evaluate the mode of inheritance by the use of maximum likelihood based variance decomposition analysis. MZ twin resemblance of finger pattern types appears to be more pronounced than in DZ twins, which suggests the presence of genetic factors in the forming of fingertip patterns. The most parsimonious model shows twin resemblance in count of all three basic finger patterns on 10 fingers. It has significant dominant genetic variance component across all fingers. In the general model, the dominant genetic variance component proportion is similar for all fingertips (about 60%) and the sibling environmental variance is significantly nonzero, but the proportion between additive and dominant variance components was different. Application of genetic model fitting technique of segregation analyses clearly shows mode of inheritance. A dominant genetic variance component or a specific genetic system modifies the phenotypic expression of the fingertip patterns. The present study provided evidence of strong genetic component in finger pattern types and seems more informative compared to the earlier traditional method of correlation analysis.

Summary Objective The aim of the study was to evaluate the association between prevalence and severity of radiographic hand osteoarthritis (OA) and serum levels of systemic inflammatory markers in a community-based population sample. Design A cross-sectional observational study was conducted on a population comprised 1452 Chuvashians (763 males, aged 49.23±17.43; and 689 females, aged 50.37±17.47 years). OA was evaluated in 14 joints of each hand using Kellgren and Lawrence (K–L), joint space narrowing (JSN) and osteophyte (OS) scores. Serum levels of systemic inflammatory and osteoclastogenic cytokines were measured by an enzyme-linked immunosorbent assay (ELISA). Statistical analyses included descriptive statistics, correlation analysis and multiple linear regressions. Results Monocyte chemotactic protein-1 (MCP-1) and osteoprotegerin (OPG) levels were associated with OA traits, but the statistically significant correlations were weak and/or moderate. In particular, the MCP-1 inflammation marker showed a statistically significant association with JSN ( β =0.077, P =0.022) and OS ( β =0.067, P =0.024) scores, but not with the number of affected joints (K–L≥2). OPG was significantly correlated with the scores as to the number of affected joints ( β =0.063, P =0.035) and OS ( β =0.077, P =0.028). No significant associations were found between levels of other inflammatory [interleukin (IL)-6, tumor necrosis factor (TNF)-α, IL-17] and osteoclastogenic [receptor activator for nuclear factor κ B ligand (RANKL), macrophage colony-stimulating factor (M-CSF)] cytokines and OA characteristics. Conclusions This study strengthens the premise that OPG might be a valid biomarker of hand OA. Confirmation of these results in larger cohorts of patients will reinforce our theory that the RANKL/OPG pathway is a suitable target for developing novel agents against OA.

The aim of the study was to compare the prevalence of radiographic hand osteoarthritis (OA) and its association with age, sex, body mass index in two ethnic groups, Russian and Buryats who reside in the same geographic area. It was a cross-sectional observational study. The study population comprised ethnic Russians (N = 572) and Buryats (N = 327) from the Barguzinsky District of the Buryat Republic, Russian Federation. OA was evaluated in 14 joints of the left hand according to Kellgren and Lawrence's grading system. A diagnosis of OA was determined by the number of affected joints and by the presence of at least one affected joint. Statistical analyses included prevalence estimation, linear and logistic regressions, and chi(2) tests. Our major finding was that individuals of different ethnic groups, residing in the same location, have similar prevalence and severity of radiographic hand OA. Considering the results of our previous study, where we found significant differences in the prevalence and severity of hand OA between the Russian samples (same ethnicity) with diverse places of residence, we conclude that environmental factors play an important role in the development of hand OA.

The aim of this study is to compare the pattern of sex differences between two different sets of dermatoglyphic traits (22 quantitative and 42 indices of diversity and asymmetry). Finger and palmar prints of Turkmenian population (547 individuals) were used for Multivariate analyses includes Cluster, Discriminant and Mantel test of matrix correlations. All variables (two groups) scattered into a number of small clusters those are markedly similar between males and females. These results were confirmed by Discriminant analysis – the two groups of variables are almost similar, the percentages of correctly classified individuals are 64.14% (22 traits) and 65.45% (42 traits); and Mantel statistics – the Z values are within the level of non-significance, very good similarities in 22 (0.95) and good similarities in 42 (0.87) traits. Sex dimorphism is similar between two categories of dermatoglyphic variables may be used for sex – discrimination in different populations.

The directional and fluctuating asymmetry characteristics of the human skull with reference to demographic and genetic parameters are presented. In addition, the discriminatory ability (in sex, age, and tribal origin) of asymmetry variables was evaluated against a battery of conventional metric measures. Regarding directional asymmetry (DA), the results show that the calvarium exhibits a clear right-sided "excess" and the basal region a left-sided "excess." The DA of traits of the face appears ambiguous. Age and sex evidently have no bearing on DA, whereas tribal origin does. In fluctuating asymmetry (FA), the effect of age is negligible; sex is a factor, albeit to a minor extent. The facial region manifests the highest mean FA value and the calvarium the lowest. The more a skull deviates metrically from the population mean, the higher the mean FA value. FA and DA measures show a relatively low intercorrelation (

Au cours du 20e s., la société bédouine est passée d'un mode de vie d'éleveurs seminomades à un mode de vie plus occidental, ce qui a entraîné une augmentation des facteurs de risque au regard de maladies mettant la vie en danger, comme le démontrent des études récentes sur l'hypertension et l'obésité dans les groupes bédouins. Face à cette transition épidémiologique, il nous a paru important d'analyser, chez les Bédouins, les valeurs de la tension artérielle (BP) et les données anthropométriques associées, avant que les tribus ne soient soumises à la modernisation. Les tribus Towara de la péninsule du Sinaï représentent le mode de vie bédouin traditionnel. L'échantillon étudié comprend 318 hommes et 91 femmes âgés de 17 à 85 ans. La valeur moyenne de la tension artérielle est de 121/81 pour les hommes et de 111/76 pour les femmes. Le taux global d'hypertension (HTN), défini comme la proportion d'individus ayant une tension systolique >/ = 140 et/ou une tension diastolique>/ = 90 mmHg est de 12 % pour les hommes et de 4 % pour les femmes. L'indice de masse corporelle est de 20kg/m2 pour les deux sexes. Les valeurs de la tension et le taux d'hypertension sont peu élevés chez les Towara en comparaison avec les autres groupes bédouins et arabes du Moyen-Orient. Les comparaisons inter-tribales ne concernent que les adultes jeunes (20-39 ans pour les hommes et 17-39 ans pour les femmes). Les femmes de la tribu Muzeina présentent des valeurs de tension artérielle exceptionnellement basses (108/76 mmHg) alors que les hommes de cette tribu (tension moyenne de 122/80 mmHg) ne se distinguent pas des autres groupes Towara. Dans les 4 groupes d'hommes étudiés, le taux global d'hypertension varie de 6 % à 20 %. Il n'a pas été possible de démontrer que la tension et le taux d'hypertension augmentait avec l'âge, bien que les hommes Towara les plus jeunes (17-19 ans) présentent, pour ces deux caractères, des valeurs moins élevées que les hommes du groupe le plus âgé (50+) : 117/79 contre 125/86 et 5 % contre 19 %. Les échantillons de femmes ne permettent aucune comparaison ; signalons néanmoins que 3 femmes Towara seulement étaient atteintes d'hypertension. Les valeurs peu élevées de la tension artérielle et du taux d'hypertension reflètent le mode de vie traditionnel de la population Towara et peuvent servir de référence pour effectuer des comparaisons tout au long du processus de modernisation. During the 20th century Bedouin society has shifted from semi-nomad pastoralism toward a more Western life style, whilst accumulating risk factors for life threatening diseases. This is evident from recent reports of hypertension and obesity in Bedouin groups. In face of this epidemiological transition, it is important to document blood pressure (BP) values and related anthropometrics of Bedouin tribes prior to considerable exposure to modernization. The Towara tribes of the Sinai Peninsula represent traditional Bedouin subsistence and culture. The Towara sample includes 318 men and 91 women, age 17 up to 85 years. Mean BP values of Towara men and women are 121/81 and 111/76, respectively. The overall rates of hypertension (HTN, defined as the percent of persons with systolic BP >/= 140 and/or diastolic BP >/= 90 mmHg) are 12% for males and 4% for females. BMI is 20 kg/m2 for both sexes. Blood pressure values and HTN rates of the Towara males and females are found to be low when compared to other Bedouin and Arab groups of the Middle East. Inter-tribal comparison considers only young adults: ages 20-39 years for men and 17-39 for women. Females of the Muzeina tribe have exceptionally low BP values: 108/76 mmHg, while Muzeina males (BP: 122/80 mmHg) are not distinguishable from other Towara groups. HTN rates in the 4 male tribal groups range between 6% and 20%. No consistent age-dependent increase is evident for males in either BP or HTN rates, although for both traits the youngest Towara men (17-19 years) have lower values than the oldest group (50+): 117/79 vs. 125/86, and 5% vs. 19%. Female samples do not allow for effective comparison, however only 3 Towara women were found to have HTN. The low values of BP and HTN rates reflect the traditional subsistence of Towara population and can serve as a reference for comparison along the modernization process.

Summary Objective The aim of the study was to evaluate the prevalence and pattern of radiographic hand osteoarthritis (OA) and its association with age, sex, body mass index (BMI), and place of residence in five Russian community-based samples. Design Cross-sectional observational study: The study population comprised ethnic Russians [821 males and 1076 females, aged 18–90 (mean 46.2 ± 15.3)], living in five different geographic areas. OA was evaluated for 14 joints of the left hand according to the Kellgren and Lawrence grading scheme. Statistical analyses included prevalence estimation, logistic and generalized model regressions, and χ 2 tests. Results We present extensive data on the prevalence of radiographic hand OA in a total Russian sample. After the age of 65, 98.5% of males and 96.8% of females had at least one affected joint. In individuals younger than 50, OA was most prevalent in the metacarpophalangeal joints, and after age 50, was most prevalent in the distal interphalangeal joints. Prevalence of hand OA was significantly higher in males than in females in ages 35–50. After adjustment for age, age 2 and place of residence, there were no associations between prevalence or severity of hand OA and BMI. Conclusions Significant differences in prevalence and severity of hand OA were found between the Russian samples living in different geographic areas. Additional studies are needed to discover the mechanism defining the association between places of residence and development of hand OA.

The objectives of this study are to evaluate the prevalence of radiographic hand osteoarthritis (OA) in Chuvashian community-based sample and its associations with age, sex, body mass index (BMI), smoking, and alcohol consumption. The study population was comprised of Chuvashians (443 males, age 47.4 ± 17.0 years and 384 females, age 50.8 ± 16.3 years). OA was evaluated for 14 joints of each hand according to the Kellgren and Lawrence grading scheme. Statistical analyses included prevalence estimation, linear, logistic and polynomial regressions, and χ2 tests. After the age of 65 years, 89.2% of males and 97.6% of females had at least one affected joint. For males and females the best-fitted and most parsimonious model of association between age and number of affected hand joints was the two interval linear one. After adjustment for age, no association between prevalence of hand OA and BMI was found in males. However, females with obesity have almost three times higher risk of development of hand OA than those with normal weight. No association was found between smoking and prevalence of hand OA. Moderate alcohol consumption showed protective effect on prevalence of hand OA in women.

The aim of the present study was to evaluate age- and sex-related changes in the geometry parameters (metacarpal cortical index (MCI) and Breaking Bending Resistance Index [BBRI]) of long hand bones in a large Chuvashian cohort using cross-sectional and longitudinal study designs. The data were gathered in 1994 (557 individuals) and 2002 (513 individuals). The latter sample included 260 individuals who were studied only during the second expedition, and 253 individuals who were previously investigated in 1994. Statistical analyses included a maximum likelihood-based model-fitting technique and a t-test comparison. Our study describes age-related MCI and BBRI changes in both sexes from the age of 18 years to 84 years. At any age, the BBRI values were higher in males than in females, but MCI was greater in females than in males before age 50 and lower after that age. The study provides initial evidence of a secular trend in MCI and BBRI. In male hand bones, the cortex became relatively thicker and it better resisted bending and breaking in comparison to individuals born at the beginning of the 20th century. In females, the trend toward higher MCI values can be observed only in those born between 1936 and 1966 and the trend toward higher BBRI values stopped in 1950.

Hepatocyte growth factor (HGF) is a member of the adipocytokine family; it is implicated in tissue repair, regeneration, and angiogenesis. Several studies have reported that the HGF plays important role in obesity and cardiovascular disease.This study examines whether HGF and its phenotypic correlations with obesity and blood pressure (BP), in healthy individuals, are due to shared genetic or common environmental factors.Body mass index (BMI), waist-to-hip ratio (WHR), BP, and HGF plasma concentrations were measured in a sample of 733 individuals belonging to 248 pedigrees.The most significant phenotypic correlations were found among HGF, WHR, and systolic BP (p0.001). Analysis of the familial aggregation revealed that parent-offspring and sibling correlations in HGF levels, adjusted for age, age(2), and sex, were statistically highly significant (p0.001). Variance decomposition analysis showed that when adjusted for potential covariates, 48.4% of the HGF variation was due to putative genetic factors. The genetic correlations between all pairs of studied traits (HGF, WHR, and SBP) were statistically significant (p0.02) and ranged between 0.23 +/- 0.07 and 0.40 +/- 0.07. However, correlation between WHR and BP becomes non-significant after adjustment for HGF.The results provide evidence that putative genetic factors involved in regulation of HGF variation contribute also significantly to variation of the obesity and BP. It is possible that the familial resemblance for WHR and the SBP correlation in the studied sample is affected substantially by genetic factors regulating circulating HGF levels.

Qualitative finger and palmar dermatoglyphics of 547 individuals (293 males, 254 females) belonging to the Chuvashian population of Russia were studied to determine sexual dimorphism. The pattern types are not uniformly distributed on 10 fingers. Sex difference is homogeneous in all fingers whereas palmar patterns reflect the better sex variations for three palmar configurational areas (II, III, and IV). This is perhaps due to embryological development, having a relatively longer growth period compared with fingers (Cummins 1929). The present results of the Chuvashian population are not similar to the results of the five Indian populations of our previous study (Karmakar et al. 2002), perhaps due to a major ethnic difference.

With the aim of determining sexual dimorphism in the component structures among the Chuvashian population of Russia, finger and palmar dermatoglyphics of 547 individuals (293 males, 254 females) were analyzed. The sex differences in two categories of dermatoglyphic traits (22 quantitative traits and 38 asymmetry and diversity traits) are reflected differently and contradictory with other ethnic groups. However, a common feature of the factor 1 "digital pattern size factor" (finger ridge counts from the first category of traits) indicate its degree of universality when compared with other populations, which suggests that the variability of finger ridge counts is determined by the same genes that control the pattern types. The factors "intra-individual finger diversity factor", and "bi-lateral asymmetry factor" extracted from the second category of dermatoglyphic traits are also similar in both sexes. However, these components are hardly described in the literature. The nature of variation of these components (from two categories of dermatoglyphic traits) appears with a good similarity between sexes, which suggests their common biological validity of the underlying component structures of the finger and palmar dermatoglyphic characters.

A set of 31 nonconventional paired cranial measurements, as well as six conventional nonpaired measures, were taken on 266 skulls, representing two related populations: Bedouins of the Israeli Negev Desert and Bedouins of the Sinai. The data were subjected to univariate and discriminant analyses to determine the relative efficacy of paired vs. conventional measures in sorting individuals according to tribal and sex affiliation. It was found that paired measures have greater discriminatory power (87%) than conventional ones (47%) in terms of classifying individuals belonging to human isolates derived from a common ancestor and sharing similar environmental conditions. This greater discrimination attests to the value of the level of "developmental noise" (a measure provided by fluctuating asymmetry) in sorting human populations. Possible explanations are proffered for the above finding.