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Objectives: The purpose of this study was to compare the prevalence of finger length ratio between three longevity populations (Abkhazians, Azerbaijanis, and Georgians) and one nonlongevity population (Russians), as well as between a longevity and nonlongevity sample within one ethnic group (Abkhazians)., Methods: In a cross-sectional observational study, we compared the prevalence of finger length ratio in longevity vs nonlongevity samples., Results: A negative relationship was observed between longevity index and prevalence of type 1 (feminine type) ratio. In longevity samples, the prevalence of type 1 ratio was lower and the prevalence of type 3 (masculine type) ratio was higher than in the nonlongevity sample of Russians. This difference was statistically significant (P < .001) in both males and females. A similar difference between longevity and nonlongevity samples was exhibited in the Abkhazian samples. In males and females, a significantly higher prevalence of type 1 and lower type 3 finger ratios (P < .001) were shown in the nonlongevity samples., Conclusions: Finger length ratio pattern in longevity populations differs from that of nonlongevity populations. In longevity samples, the prevalence of type 1 ratio was lower and the prevalence of type 3 ratio was higher vs the nonlongevity sample. A similar type of difference was seen in the longevity and nonlongevity samples belonging to one ethnic group, the Abkhazians. Previous studies found that the type 1 finger length ratio was related to important morbidities that have a potential for shortening the life span. This can be one of the most plausible explanations for our findings., (© 2019 Wiley Periodicals, Inc.)

Objectives: The purpose of this study was to evaluate the familial correlations and heritability of 2D:4D ratio traits using a large population-based sample of ethnically homogeneous pedigrees from Chuvasha and Bashkortostan Autonomies of the Russian Federation., Methods: We calculated the familial correlations and performed a heritability analysis of 2D:4D ratio traits in a sample of 1541 subjects (803 men and 738 women, mean age 47.78 ± 16.89 years, range 18-90 years)., Results: Familial correlations of 2D:4D ratio traits showed no significant correlation for spouses; however, parent-offspring (0.15-0.28, P < .001) and sibling correlations (0.13-0.38, P < .009) were found to be significant. Heritability (H 2 ) of visual classification of 2D:4D ratio was 0.36 for the left and 0.28 for the right hand; finger ratio was 0.55 and 0.66, respectively; the ray ratio was 0.49 and 0.59, respectively, thus indicating the existence of a clear familial aggregation of 2D:4D ratio variation in the Chuvashian pedigrees, which cannot be explained only by common environmental effects., Discussion: Results of our study suggest familial aggregations of finger ratio variation (for all traits) in Chuvashian pedigrees. No evidence of assortative mating was found., (© 2019 Wiley Periodicals, Inc.)

The long term skeletal effects of antenatal exposure to teratogen 5-deoxy-2'-cytidine (5-AZA) were studied using two inbred strains, C3H/HeJ (C3H, with inherently stronger bones) and C57Bl/6J (C57, with weaker bones). We previously reported that in-utero exposure to 5-AZA resulted in loss of bone quality in 3- and 6-mo-old C3H offspring. In this study, we further examined whether the long-term effects of an acute teratogenic exposure are still evident in older mice. Bone phenotypes of 12 mo-old mice exposed to a single injection of 5-AZA on day 10 of their mother's pregnancy were evaluated by micro-computed tomography and compared to the untreated controls. The main observation of this study is that 5-AZA-induced loss of bone length was registered in 12-mo-old C57 and C3H males. As expected, we did not find differences in the 3rd lumbar vertebra since in-utero exposure to 5-AZA was shown to affect the limb buds but not the axial skeleton. Trajectory of changes in bone phenotypes from ages 3 mo through 6 mo to 12 mo was also compared; 5-AZA-exposed C57 males had consistently lower femoral length and trabecular BMD than age-matched controls. In summary, by characterizing teratogen-exposed C57 and C3H mice, we further confirmed that the adaptive response to antenatal insults continue into mid-life of the mice as well as there is a sex-specificity of these responses.

To evaluate the association between the index and ring finger's (2D:4D) length ratio with the prevalence and severity of radiographic hand osteoarthritis (OA). A population-based sample included 802 males (mean age 46.98 ± 17.10 years) and 738 females (mean age 48.65 ± 16.62 years) who had participated in a Chuvashian skeletal aging study. Age, sex, basic demographics, anthropometric data and X-rays of both hands were acquired. Each hand was visually classified on X-ray as either type 1-index finger longer than the ring finger; type 2-index and ring finger equal in length; or type 3-index finger shorter than the ring finger. Hand OA was defined by the number of affected joints (Kellgren-Lawrence score ≥ 2) in both hands and the sum total of Kellgren-Lawrence scores (total OA score). After comparing the OA variables of individuals with different finger length ratio types (after adjustment for age and BMI) significant differences were found only in females between finger ratio types of the right hand in a number of affected joints (F = 3.153, p = 0.043) and finger ratio types of the left (F = 3.330, p = 0.036) and right (F = 2.397, p = 0.047) hands of the total OA score. Females with type 3 ratios had the highest adjusted values of hand OA parameters. We found that finger length ratios are associated with hand OA parameters. Females with a type 3 finger length pattern showed significantly higher hand OA values than those with types 1 and 2.

Abstract: The aim of this population-based study was to evaluate the association between the index to ring (2D:4D) finger length ratio and the osseographic score (OSS), the skeletal biomarker of biological aging. A sample included 802 males and 738 females who had participated in a Chuvashian skeletal aging study. Age, sex, basic demographics, anthropometric data and X-rays of both hands were collected. Each hand was visually classified on X-ray as either Type 1 - index finger was longer than ring finger; Type 2 - equal; or Type 3 - shorter than the ring finger. OSS is a skeletal biomarker that comprises osteoporotic and osteoarthritic changes observable on a hands X-ray. The mean age of males in the studies sample was 46.98 ± 17.10 and mean age females was 48.65 ± 16.62. OSS showed significant association with age (r = 0.886, p < 0.001), body mass index (BMI) (r-0.253, p < 0.001) and sex (F = 13.771, p < 0.001). Results of one-way ANCOVA for finger length ratio types of right hand showed a significant difference in OSS (d.f. = 2, F = 7.569, p = 0.001), after adjustment for age, sex, and BMI. The posthoc comparison showed that individuals with Type 3 (2D < 4D) ratio showed significantly higher OSS scores that ones with Type 1 ( p = 0.012) and Type 2 ( p = 0.003). In an analysis of finger length ratio types of left hand also a significant difference in OSS was found (d.f. = 2, F = 3.290, p = 0.038). The posthoc comparison showed that individuals with Type 3 (2D < 4D) ratio showed significantly higher OSS scores that ones with Type 2 ( p = 0.33) ratio. Finger length ratio is associated with an OSS, a skeletal biomarker of biological aging. Individuals with Type 3 finger length pattern showed significantly higher OSS that ones with Type 1 and Type 2.

Very few studies that evaluated the association between fi nger length ratio and body composition in adult population showed very diverse results. We carried out a radiographic study on a large population sample who had participated in a Chuvashian skeletal aging study investigating different aspects of skeletal aging. The aims of this study were to evaluate the association between 2D:4D ratio and various indices of body composition in Chuvashian males and females. The study sample included 802 males (mean age 46.98±17.10 years) and 783 females (mean age 48.65±16.62 years). Single plain radiographs of both hands were taken. Each hand was classifi ed according to whether the index fi nger was longer (Type 1), equal to (Type 2) or shorter than the ring fi nger (Type 3) by visual comparison of the soft tissue outline of the fi nger ends on the radiograph. Anthropometry, including body weight, stature, and six circumferences from the body trunk and extremities were taken from each participant. We found no evidence of substantial associations between visually assessed fi nger length ratio and adult BMI, WC, hip and chest circumferences, WHT and WCR for men and women. These results suggest that associations between fi nger length ratio and hormone-related diseases and disorders can be interpreted directly, independent of any mediating effects of adult body composition parameters.

Background: To our knowledge, there are no experimental studies that have addressed the effects of starvation on the maintenance of telomere length. Two epidemiologic studies that have addressed this topic gave controversial results., Objective: We characterized leukocyte telomere length (LTL) in a Chuvash population that was comprised of survivors of the mass famine of 1922-1923 and in these survivors' descendants., Design: The tested cohort consisted of native Chuvash men (n = 687) and women (n = 647) who were born between 1909 and 1980 and who resided in small villages in the Chuvash Republic of the Russian Federation. Data were gathered during 3 expeditions undertaken in 1994, 1999, and 2002. With the use of this method of gathering the study cohort, we were able to treat age and birth year as independent variables (i.e., after adjustment for age, we were able to analyze how LTL correlates with a birth year in the interval between 1909 and 1980). The DNA of peripheral blood leukocytes was used to measure the telomere length with a quantitative polymerase chain reaction technique., Results: The main observations were as follows: 1) there were shorter leukocyte telomeres in men born after 1923 (i.e., after the mass famine) than in men born before 1922 (i.e., before the mass famine); 2) there was a stable inheritance of shorter telomeres by men of ensuing generations; and 3) there was an absence of a correlation between LTL and birth year in women., Conclusions: Our study does not provide direct evidence for leukocyte telomere shortening in famine survivors. However, the comparative analysis of LTL in the survivors and their descendants suggests that such an effect did take place. The study also implies that mass famine may be associated with telomere shortening in male descendants of famine survivors. This observation is in agreement with the "thrifty telomere hypothesis" predicting that longer telomeres are disadvantageous in nutritionally marginal environments., (© 2016 American Society for Nutrition.)

In this study we examined to what extent and how genetics may modify osteoporosis risk arising due to environmental stresses which act during the antenatal period of life and have the potential to induce bone loss in adulthood. C57Bl/6J (C57) and C3H/HeJ (C3H) mice were used as a model system. The mice were exposed to a single injection of 5-aza-2'-deoxycytidine (5-AZA) on day 10 of pregnancy and the structure and bone mineral density (BMD) of the femur and 3rd lumbar vertebra of 3- and 6-month-old male and female offspring were evaluated by micro-computed tomography (μCT). Besides, we also attempted to evaluate whether 5-AZA affects the expression of some osteogenic genes in the embryonic limb buds. The main observation of this study is that 5-AZA-induced loss of bone quality was registered in 6-mo-old C3H offspring but not in their C57 counterparts. We also observed that C57 and C3H embryos may differ in their response to 5-AZA-induced detrimental stimuli: whereas 5-AZA treated C3H embryos exhibited a decreased expression of Col1a1, C57 embryos exhibit a decreased expression of Sox9. Overall, our study, by thorough characterization of bone homeostasis in 3- and 6-month-old offspring of 5-AZA-exposed C57 and C3H mice, allows hypothesizing that the adaptive response to antenatal insults may be stronger in offspring inherently exhibiting a low bone mass phenotype than in offspring inherently exhibiting a high bone mass phenotype., (Copyright © 2016 Elsevier Inc. All rights reserved.)

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).

Objective: 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., Methods: 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., Results and Conclusions: 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., (Copyright © 2013 Wiley Periodicals, Inc.)

In a sample of Chuvashians (803 males and 738 females) we evaluated the mean values of index finger to ring finger (2D:4D) ratio, the contributions of phalanges and metacarpals to the 2D:4D ratio, and the symmetry between right and left 2D:4D ratios. Age, sex, anthropometric data and radiographs of both hands were collected. Each hand was visually classified on a radiograph as either Type 1 - index finger was longer than ring finger; Type 2 - equal; or Type 3 - index shorter than the ring finger. The following measurements (1) from the mid-point of the base of the proximal phalanx to the mid-point of the tip of the distal phalanx; and (2) from the mid-point of the base to the mid-point of the tip of the metacarpal were obtained from the index and ring fingers. Visual classification was significantly associated with the measured 2D:4D length ratio. Women had a higher prevalence of Type 1 and Type 2, but lower prevalence of Type 3 ratio in both hands. Men had smaller measured 2D:4D phalangeal, metacarpal and ray (combined) ratios than women. Symmetry between the right and left hand measured 2D:4D ratios were significant in phalangeal (r=0.657, p<0.001), metacarpal (r=0.638, p<0.001), ray (r=0.682, p<0.001) ratios and visual classification types (contingency coefficient=0.559, p<0.001). No sex dimorphism was found between the right and left hands. Correlations between age and visual classification were significant on both sides before and after adjustment for sex. This result is probably a sign of a secular trend in the Chuvashian sample and the study should be replicated in other samples., (Copyright © 2013 Elsevier GmbH. All rights reserved.)

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 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&#95;F2 is inherited mostly in dominant type (28.0%) and FA&#95;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 findings. The present results are similar with the earlier results of finger ridge count diversity in twin data, which suggested that finger ridge count diversity is under genetic control.

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.

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 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&#95;FA both Mendelian and Environmental models were rejected (< 0.001) with the General model, i.e. that despite presence of significant inheritance (rejection of Environmental model), the nature of inheritance is more complex, than Mendelian one. Although a little genetic effect was observed due to familial correlations on asymmetry traits, no evidence was found of major gene contribution to be involved, but this does not contradict the notion postulated by several earlier authors that asymmetry (fluctuating) provides a measure of developmental instability in human.

Dermatoglyphic traits in a sample of twins were analyzed to estimate the resemblance between MZ and DZ twins and to evaluate the mode of inheritance by using the maximum likelihood-based Variance decomposition analysis. The additive genetic variance component was significant in both sexes for four traits--PII, AB&#95;RC, RC&#95;HB, and ATD&#95;L. AB RC and RC&#95;HB had significant sex differences in means, whereas PII and ATD&#95;L did not. The results of the Bivariate Variance decomposition analysis revealed that PII and RC&#95;HB have a significant correlation in both genetic and residual components. Significant correlation in the additive genetic variance between AB&#95;RC and ATD&#95;L was observed. The same analysis only for the females sub-sample in the three traits RBL, RBR and AB&#95;DIS shows that the additive genetic RBR component was significant and the AB&#95;DIS sibling component was not significant while others cannot be constrained to zero. The additive variance for AB DIS sibling component was not significant. The three components additive, sibling and residual were significantly correlated between each pair of traits revealed by the Bivariate Variance decomposition analysis.

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.

Background and Aims: Previous studies have reported that centenarians escape the major agerelated diseases. No studies on prevalence and severity of osteoarthritis (OA) in longevity population have previously been reported. Because OA is associated with morbidity and mortality, we hypothesized that radiographic hand OA would generally be less prevalent and would develop at a later age in longevity populations vs non-longevity populations. Aim was to evaluate the prevalence and mode of development of radiographic hand OA in three longevity populations (Abkhazians, Azerbaijanis and Georgians) and in one non-longevity population (Russians)., Methods: Crosssectional observational study. Longevity index was calculated as a ratio of the number of individuals aged >90 years vs the number of people aged >60, expressed per mil (‰). A population with longevity index >40‰was considered as a longevity population. Radiographic hand OA was evaluated using the left hand radiograms in 14 joints according to Kellgren and Lawrence's (K-L) grading system. Each individual was characterized by the total number of affected (K-L≥2) joints (NAJ). Prevalence of hand OA was defined as the presence of at least one affected joint. Statistical analyses included prevalence estimation, linear, logistic and polynomial regressions, and ANOVA., Results: A significant difference (p<0.003) in age standardized prevalence of hand OA was found between each pair of studied samples, except between Russians and Georgians and between Azerbaijanis and Abkhazians (p>0.05). The lowest age-standardized prevalence was found in Abkhazians, followed by Azerbaijanis and Georgians. The highest prevalence was found in Russians. ANOVA showed significant differences (p<0.01) between the age-adjusted means of NAJs. The lowest age-adjusted NAJ was found in the Abkhazian population, followed by Azerbaijanis and Georgians. The highest NAJ was found in Russians., Conclusions: We observed that the pattern of radiographic hand OA in longevity populations differs from the pattern in non-longevity populations. On average, first joints with OA appear at an older age, and progression of hand OA, measured by NAJ, is slower.

The aim of this study was to evaluate whether geographic location and climatic factors are associated with prevalence and severity of radiographic hand osteoarthritis (OA) in several samples of the same ethnicity. The total sample included 2079 ethnic Russians (900 males and 1179 females), belonging to 7 samples from different geographic locations in the former USSR. Places of residence were characterized by latitude, longitude, altitude and climatic parameters (mean temperatures, humidity, and daylight duration of January and July). Radiographs of the left hand were obtained from each individual. Osteoarthritis (OA) was evaluated in 14 hand joints according to Kellgren and Lawrence's grading system. OA was characterized by the presence of at least one affected joint and its severity by the number of affected joints (NAJ). Statistical analysis included prevalence estimation, polynomial and logistic regressions, ANOVA and correlation analyses. Prevalence of hand OA and NAJ were significantly associated with latitude and altitude and with most climatic parameters (except the inter-seasonal temperature amplitude and the mean atmospheric pressure of January and July). The highest correlations of hand OA prevalence were found with altitude (r=0.29, p<0.001), annual precipitation (r=-0.26, p<0.001) and the mean temperatures of July (r=0.26, p<0.001). The highest correlations of NAJ were found with altitude (r=0.51, p<0.001), mean humidity in January (r=-0.44, p<0.001) and the mean day duration in January (r=0.0.37, p<0.001). The present study demonstrates that the differences in prevalence and severity of radiographic hand OA among Russian samples are most likely dependent on climatic conditions in the place of residence., (Copyright © 2011 Elsevier GmbH. All rights reserved.)

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., (Copyright © 2011. Published by Elsevier GmbH.)

Background: A recent study showed that the level of soluble Vascular Cell Adhesion Molecule 1 (VCAM-1) emerged as a strong and independent predictor of the risk of hip and knee joint replacement due to severe osteoarthritis (OA). Therefore, we hypothesized that soluble VCAM-1 level can be associated with prevalence and severity of radiographic hand OA., Objectives: To evaluate the association between soluble VCAM-1, and radiographic hand OA in a large community-based sample., Methods: The study population comprised Chuvashians (473 males age 45.90±17.16; and 451 females, age 46.18±16.70 years). OA was evaluated for 14 joints of each hand using Kellgren and Lawrence (K-L). OA was characterised by the number of affected joints and by the presence of at least one affected joint. The VCAM-1 level was determined by a sandwichenzyme immunoassay technique using ELISA-OSTEO kit. Statistical analyses included multiple linear and logistic regressions., Results: The linear regression model showed a significant association of a number of affected joints with VCAM-1 level (p=0.004) after adjustment for age, sex, BMI. In the logistic regression model the level of association between the presence of at least one affected joint and soluble VCAM-1 level was p=0.070 (OR(95%CI): 1.003 (1.000, 1.007))., Conclusions: In this cross-sectional population-based study, we found that the serum level of soluble VCAM-1 level is positively associated with the number of affected joints of hand OA.

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., (Copyright © 2010. Published by Elsevier Ltd.)

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.

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 chi(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., (Copyright 2010 Osteoarthritis Research Society International. Published by Elsevier Ltd. All rights reserved.)

The objective of this study is to evaluate the association between radiographic hand osteoarthritis and serum level of osteocalcin. The study population comprised Chuvashians (285 males, age 47.38 +/- 16.79; 265 females, age 48.55 +/- 15.94 years). OA was evaluated for 14 joints of each hand using Kellgren and Lawrence (K-L), joint space narrowing (JSN) and osteophytes (OS) scores. Plasma-intact osteocalcin was measured in 550 individuals by immunoradiometric assay using ELSA-OSTEO kit. Statistical analyses included multiple linear and logistic regressions. 51.64% of studied individuals had at least one finger joint affected at K-L > or = 2 level. JSN at the level > or = 2 was found in 9.82% and OS > or = 2 was found in 35.09% of the studied individuals. Osteocalcin showed a modest, but statistically significant, association with the number of affected joints according the K-L scale (beta = 0.082, p = 0.015), JSN scale (beta = 0.097, p = 0.025) and OS scale (beta = 0.078, p = 0.029). No significant association was found between the presence of at least one affected joint (K-L > or = 2 or OS > or = 2) and serum level of osteocalcin. Presence of at least one joint with space narrowing > or = 2 was significantly associated with serum level of osteocalcin (beta = 0.052, p = 0.023). In this cross-sectional population-based study, we found that serum level of osteocalcin is positively associated with severity of hand OA, measured by K-L, JSN and OS scales.

A study was undertaken to evaluate whether various ethno-territorial samples have different characteristics of radiographic hand osteoarthritis (OA) and to evaluate whether climate is associated with differences in hand OA characteristics. The total sample included 4775 individuals (2220 males and 2555 females), belonging to 12 sub-samples, including 9 ethnic groups, from 10 geographic locations in the former USSR. Ethnicity, latitude, longitude, and climatic parameters (mean temperatures, humidity, and day length of January and July) were collected for each sample. X-rays of the left hand were obtained from each individual. Prevalence of hand OA was evaluated in four age groups (36-40, 41-45, 46-50, and 51-55 years). Using maximum likelihood estimation, the following characters were determined: the mean age of persons having 1 and 5 affected joints--A(m1) and A(m5), and the mean time in which one additional joint was affected--T(m). The difference between samples was evaluated using the chi(2)-test. The associations between hand OA, and climate were evaluated using Pearson's correlations. Significant differences in OA characteristics among samples were found. Prevalence of hand OA in the age-group 46-50 showed significant association with longitude (r=0.57, p=0.05) and inter-seasonal temperature amplitude (r=0.77, p=0.0035) and significant negative association with mean temperature of January (r=-0.72, p=0.0089). Significant associations were found between longitude, the mean temperature of January, and inter-seasonal temperature amplitude and age-related hand OA parameters (A(m1) and A(m5)). The present study indicates that the differences in characteristics of radiographic hand OA among samples are most likely associated with climatic variation., (Copyright 2010 Elsevier GmbH. All rights reserved.)

18 quantitative finger and palmar dermatoglyphic traits were analyzed with the aim of determining genetic effects and common familial environmental influences on a large (358 nuclear pedigrees) number of twins (MZ and DZ). Genetic analysis based on principal factors includes variance and bivariate variance decomposition analysis. Especially, Factor 1 (digital pattern size) is remarkable, due to its degree of universality. The results of genetic analysis revealed all three extracted factors have significant proportion of additive genetic variance (93.5% to 72.9%). The main results of bivariate variance decomposition analysis appears significant correlation in residual variance between digital pattern size factor (Factor 1) versus finger pattern intensity factor (Factor 4), and palmar main lines factor (Factor 2) verses a-b ridge count (Factor 3), but there was no significant correlation in the genetic variance of factors.

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 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.

Summary: Objective of this study is to explore the nature of sex differences between two different sets of dermatoglyphic traits based on principal components in the Turkmenian population. Two categories of dermatoglyphic traits--22 usually studied quantitative traits and 42 variables of diversity and asymmetry were analysed among 745 individuals (309 males and 436 females). The three principal components are very prominent in both sexes--"digital pattern size factor" indicates the degree of universality, as found in earlier studies among different ethnic populations; "intra individual diversity factor" and "bilateral asymmetry factor" are also similar with the earlier studies, which suggest the genetic factor has more influence on these variables than environmental factors. These results strongly indicate that there is a common biological validity exists of the underlying principal component structures between two different sets of dermatoglyphic characters and thus dermatoglyphic factors between two groups of variables can be used for sex-discrimination in different populations.

The main goal of the present communication is to determine the mode of inheritance of dermatoglyphic diversity traits through complex segregation analyses (genetic model fittings). The data consists of a large ethnically homogeneous sample of 500 Indian pedigrees (2435 individuals) of two generations. Principal component analysis, familial correlations and segregation analysis (package MAN-5) were used. A little genetic effect obtained from familial correlations but no evidence of major gene contribution found to be involved. By segregation analysis of the traits- PC 1&#95; Div, Div 9 and Div 11, both Mendelian and Environmental models were rejected (<<0.001) with the General model, i.e. despite the presence of significant inheritance (rejection of Environmental model), the nature of inheritance is more complex, than Mendelian model.

The aim of the study was to evaluate the prevalence and pattern of radiographic hand osteoarthritis (OA) in Turkmen community-based sample and its association with age, sex, and BMI. The study population was comprised of Turkmens (277 males and 427 females, age 19-90 years). OA was evaluated for 14 joints of each hand according to the Kellgren and Lawrence grading scheme. Statistical analyses included prevalence estimation, linear and polynomial regressions, and chi2 tests. About 13.8% of individuals before age 36 had at least one joint with OA, and the prevalence reached 100% after age 65. For males and females the best-fitted and most parsimonious model of association between age and number of affected hand joints was a two interval linear one. After adjustment for age, we found that females with severe obesity have higher risk of development of hand OA than those with normal weight [OR(95%CI): 3.88 (1.20-12.60)].

Adipokines may link adipose tissue to the inflammatory, metabolic, and immune dysregulation. The variation of adipokine levels within individuals, intercorrelations, and relationships to well-established measures of adiposity are incompletely defined. The main goal of the present study was quantitative evaluation of the genetic interrelationships between obesity and adipokines in normal human population. The study sample comprised 272 families of various sizes, including 530 men and 531 women aged 18-80 years, randomly recruited in rural population living in Russia. Various fatness and fat distribution measures (OB), blood pressure (BP), and plasma levels of several adipokines (AC), such as adiponectin, leptin, resistin, and IGFBP-1, have been measured. The likelihood ratio tests clearly revealed that genetic effect for all studied phenotypes was highly significant (P < 0.001) and accounted for 45.9% +/- 8.1%, 33.7% +/- 7.9%, 35.7% +/- 9.8% of variation for AC, OB, and BP, respectively. The pairwise bivariate analyses showed that strong phenotypic correlation between the obesity (OB) and adipocytokines (AC) was caused by both common genetic and environmental factors (r(G) = 0.597 +/- 0.116, r(E) = 0.671 +/- 0.051). The phenotypic correlation between BP and OB is explained by shared genetic factors only (r(G) = 0.532 +/- 0.109), whereas the phenotypic correlation between BP and AC has only common environment basis (r(E) = -0.212 +/- 0.081) and was mostly due to the correlation observed in females. Our results suggest that genetic factors play a significant role in regulation of variation of the examined traits. The variation of OB traits is almost fully due to genes influencing variation of AC, whereas the correlation between BP and AC is only marginally significant and caused only by shared environment., ((c) 2008 Wiley-Liss, Inc.)

The aim of the study was to evaluate the prevalence and pattern of radiographic hand osteoarthritis (OA) in an Abkhazian community-based sample and its association with age, sex, body mass index (BMI) and place of residence. The study sample was comprised of 542 males with a mean age of 43.9, sd 15.6 years and 463 females with a mean age of 44.9, sd 13.9 years. OA was evaluated for 14 joints of the left hand according to the Kellgren and Lawrence grading scheme. Statistical analyses included prevalence estimation, multiple regression analysis and chi(2) tests. In the entire Abkhazian sample the average prevalence of hand OA was 33.6% for males and 35.4% for females. After age 65, the prevalence of hand OA was 87.5% for males and 83.3% for females. No sex differences were found in the prevalence or number of affected hand joints. Statistically significant association was found between the number of affected joints and BMI, but not between the prevalence of hand OA and BMI. Different prevalences of radiographic hand OA were found in individuals from different villages, after adjustment for age, sex and BMI. Additional studies are needed to explore the possible reasons for such differences.

The aim of the present study was to describe the frequencies of right or left dominance in handedness (HDD), dominant eye (DE), hand clasping (HCL) and arm folding (ARMF) and their combination in the Chuvashian population. We also evaluated the familial correlation and heritability of aforementioned traits in the studied population. The investigated cohort comprised 235 nuclear Chuvashian (Russia) families and included 595 men aged 18-89 years (mean 46.9) and 592 women aged 18-90 years (mean 48.5). Our study shows that in the Chuvashian population right handedness, right dominant eye, right hand clasping and left arm folding is a most frequent pattern. In the studied population 9.08% of males and 9.98% of females were left-handed. Left DE was observed in 22.84% of males and 21.81% of females. Left dominance in HCL was found in 47.63% of males and 49.32% of females, while left dominance in ARMF was in 52.02% of males and 58.98% of females. The frequencies of dominance in HDD, DE and HCL showed no statistically significant differences between the sexes, but we found a significant sex difference in ARMF (p = 0.016). Statistically significant correlations were found between dominances of HDD and HCL, HDD and DE, and HCL and DE. No confirmation of heritability was obtained concerning the DE, HCL or ARMF indices. However, we obtained a high heritability estimate for HDD (h2 = 0.19) that was based on statistically significant parent-offspring and sib-sib correlations.

Objective: Several previous studies support the association between manual dominance and age at menarche or age at menopause. The aim of the present study was to estimate the association between indices of laterality and reproductive indices., Design: The studied sample comprised 650 Chuvashian women aged 18 to 80 years (mean, 46.9; SD = 16.2). The independent-sample t test was used to compare the age at menarche or age at menopause between individuals with right or left dominance of handedness, dominant eye, hand clasping, and arm folding., Results: No significant differences in age at menarche or age at menopause between women with right and left dominance in any of the studied laterality indices were found., Conclusions: This is the first study that simultaneously evaluates the association between dominance in four laterality indices (handedness, dominant eye, hand clasping, and arm folding) and two reproductive indices (age at menarche and age at menopause). Result of our study do not support the hypothesis of a possible association between handedness (and other indices of laterality) and an early age at menarche or age at natural menopause.

Background: The human homologue of the mouse progressive ankylosis (ANKH) gene is one of the key genetic factors involved in bone mineralization. Previous studies have shown that plasma levels of osteoprotegerin (OPG) and parathyroid hormone (PTH) are associated with the distal region of the ANKH gene, whereas skeletal size measurements are associated with the promoter region., Aim: The present study examines the possible phenotype-haplotype specificity of the associations in these two gene regions., Subjects and Methods: The total sample consists of 1249 healthy individuals (mean age = 47.7, SD = 16.8) from 404 nuclear families. Fifteen interrelated anthropometric measurements were transformed into two principal components, reflecting body size and mass. Those, plus circulating levels of PTH and OPG, were subjected to association analysis, using transmission disequilibrium tests (TDTs) with ANKH gene. From 805 to 1150 individuals per SNP were genotyped., Results: In the proximal region (rs3006069-rs835154-rs835141), associations were found between the A-A-C haplotype and the first principal component reflecting body size (p < or = 0.048), whereas another haplotype, G-G-C, was associated with the first principal component, reflecting the body mass (p < or = 0.008). In the distal region of ANKH (rs39968-rs696294-rs875525), the A-A-C haplotype was found to be associated with OPG plasma levels (p < or = 0.001), whereas the G-A-C haplotype was associated with PTH circulating concentrations (p < or = 0.025)., Conclusion: Taken together, the results show discrimination between the corresponding regions and haplotypes, suggesting trait-specific gene variants that influenced bone-related phenotypic variation in the studied population.

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., ((c) 2008 Wiley-Liss, Inc.)

Osteoporosis is characterized by reduced bone strength. Bone size and bone mineral density (BMD) are major bone strength determinants. Identification of genes affecting the variability of these traits should improve prognosis and management of osteoporosis. This research was aimed to test the hypothesis of association of radiographic hand bone length (BL) and BMD with polymorphisms in the RUNX2 locus. Four SNPs linked to the two RUNX2 promoters were genotyped in 212 nuclear Caucasian families. These SNPs and four pairwise haplotypes were tested for association with eight BL and BMD traits, adjusted for covariates. We observed significant associations between polymorphisms linked to the RUNX2 P1 promoter and BL mean values for three studied bone groups: all 18 bones, proximal and medial bones (p = 0.0118, 0.0085, and 0.0056, respectively). Mean BMD values for all 18 bones, proximal and medial bones were associated with polymorphisms linked to the RUNX2 P2 promoter (p = 0.0032, 0.0077, 0.0007, respectively). Associations with BL and BMD mean values for medial and proximal bones remained significant even after correction for multiple testing. This study provides evidence of the association between polymorphisms linked to the two RUNX2 promoters and variability of hand BL and BMD. The results suggest independent roles for the two RUNX2 promoters in the determination of the traits studied.

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.

The present report deals with reconstructing the facial shapes of ancient inhabitants of Israel based on their cranial remains. The skulls of a male from the Hellenistic period and a female from the Roman period have been reconstructed. They were restored using the most recently developed programs in anthropological facial reconstruction, especially that of the Institute of Ethnology and Anthropology of the Russian Academy of Sciences (Balueva & Veselovskaya 2004). The basic craniometrical measurements of the two skulls were measured according to Martin & Saller (1957) and compared to the data from three ancient populations of Israel described by Arensburg et al. (1980): that of the Hellenistic period dating from 332 to 37 B.C., that of the Roman period, from 37 B.C. to 324 C.E., and that of the Byzantine period that continued until the Arab conquest in 640 C.E. Most of this osteological material was excavated in the Jordan River and the Dead Sea areas. A sample from the XVIIth century Jews from Prague (Matiegka 1926) was also used for osteometrical comparisons. The present study will characterize not only the osteological morphology of the material, but also the facial appearance of ancient inhabitants of Israel. From an anthropometric point of view, the two skulls studied here definitely belong to the same sample from the Hellenistic, Roman, and Byzantine populations of Israel as well as from Jews from Prague. Based on its facial reconstruction, the male skull may belong to the large Mediterranean group that inhabited this area from historic to modern times. The female skull also exhibits all the Mediterranean features but, in addition, probably some equatorial (African) mixture manifested by the shape of the reconstructed nose and the facial prognatism.

Objectives: Previous studies showed increased femoral, neck, and tibial plateau with age in individuals with and without osteoarthritis (OA) at adjacent joints. However, the question whether epiphyseal bone enlargement is a natural phenomenon of aging or associated with OA remains open. The aim of the present study was to evaluate age- and sex-related changes in the relative size of epiphyses of long hand bones and their association with radiographic OA., Design: The data were collected from a population-based European sample in 1994 (557 individuals) and in 2002 (513 individuals). The latter sample included 253 individuals who were previously investigated in 1994. The epiphyseal index (EI), reflecting the relative size of bone epiphyses and hand OA, was evaluated from hand radiographs. Statistical analyses included multiple regression analyses and a maximum likelihood-based model-fitting technique., Results: Hand bone epiphyses increased with age and with OA. In males, the EI gradually increased during their entire life span. In females, the EI remained almost unchanged up to the age of 40, after which, it increased more rapidly than in males. Individuals with OA had higher values of EI at any age. In both sexes, epiphyseal enlargement is a predisposing factor for hand OA progression in adjacent joints. This was clearly seen in males, where old individuals with high EI values had much higher OA scores in comparison with age-matched individuals., Conclusions: Enlargement of long bone epiphyses with age appears to be a general tendency in the human skeleton. Our study shows that the enlargement of epiphyses may also be related to OA.

With the aim of determining sex dimorphism among the Chuvashian population of Russia, digital and palmar dermatoglyphics of 547 individuals (293 males, 254 females) were analyzed. The sex differences for PII, TRC, and AFRC are similar to Indian and Jewish populations. Correlation coefficients between individual finger ridge counts are a little lower than in Jews but are almost equal to Indian populations. The Mantel test of matrix correlation between sexes for 22 traits shows a very good similarity. However, sex differences of palmar traits display different levels when compared with other human populations. In light of this, our evidence indicates the possible role of environmental (prenatal) factors in the realization of dermatoglyphic sex differences. The development of palmar dermatoglyphics has had a relatively longer growth period compared with fingers [Cummins, H., 1929. The topographic history of the volar pads (walking pads, tast ballen) in the human embryo. Embryol. 20, 103-126]. The palmar dermatoglyphic pattern of affinities therefore corresponds better than fingers to the ethno historical background of the populations, ascertained by numerous studies.

Background: 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., Aim: 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., Subjects and Methods: 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., Results: The most significant phenotypic correlations were found among HGF, WHR, and systolic BP (p < 0.001). 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 (p < 0.001). 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 (p < 0.02) 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., Conclusions: 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.

The aim of the present study was to evaluate age- and sex-related changes in the size and shape 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 that 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. We found evidence for secular trend of hand bone size in both males and females within the Chuvashian population. In males, the length and total area of the long hand bones were greater in younger individuals, but mid-shaft bone width remained almost the same in individuals born at different periods of the last century. In females, the length of the hand bones and total bone area remained unchanged in women born after 1937. However, bone mid-shaft width gradually decreased in women born after 1940. Therefore, we argue that, at least within the Chuvashian population, there is a secular trend towards a more gracile appendicular skeleton in both males and females.

Unlabelled: For the first time the study provides evidence of association of radiographic hand bone length (BL) and bone mineral density (BMD) with polymorphisms in ROR2 gene that plays important role in skeletal development. This contributes to better understanding of bone physiology and may have application in clinical practice., Introduction and Hypothesis: Bone size and bone mineral density (BMD) are major determinants of bone strength. Identification of genes affecting these traits' variability is important for better understanding of normal and pathological bone physiology and identification of the individuals at risk for bone fracture. This study tested the hypothesis of association of radiographic hand bone length (BL) and BMD with polymorphisms in ROR2 gene that is important in skeletal development., Methods: Nineteen ROR2 SNPs were genotyped in 705 individuals, belonging to 212 nuclear families. The four tagging SNPs (tSNPs) and the pairwise haplotypes between adjacent tSNPs were tested for association with series of hand BL and BMD measurements, adjusted for covariates, using family-based association tests., Results: We observed significant associations with BL and BMD mean values for all 18 studied hand bones (p = 0.0080, 0.0030), mean BL and BMD for proximal phalanges (p = 0.0218, 0.0060) and metacarpal bones (p = 0.0014, 0.0004). In the latter, the association remained significant after correction for multiple testing., Conclusions: The region of the first through the second ROR2 introns is most likely to contain the functional polymorphism/s responsible for the observed associations. Further studies are required to identify the ROR2 functional polymorphism/s affecting bone size and BMD variation.

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.

Changes in the skeletal system, which include age-related bone and joint remodeling, can potentially be used as a biomarker of biological aging. The aim of the present study was to investigate the extent and mode of inheritance of skeletal biomarker of biological aging-osseographic score (OSS), in a large sample of ethnically homogeneous pedigrees. The investigated cohort comprised 359 Chuvashian families and included 787 men aged 18-89 years (mean 46.9) and 723 women aged 18-90 years (mean 48.5). The TOSS - transformed OSS standardized in 5-year age groups for each sex, was analyzed as a BA index. We evaluated familial correlations and performed segregation analysis. Results of our study suggest the familial aggregations of TOSS variation in the Chuvashian pedigrees. In a segregation analysis we found a significant major gene (MG) effect in the individual's TOSS with a dominant most parsimonious model (H(2) = 0.32). Genetic factors (MG genotypes) explained 47% of the residual OSS variance after age adjustment and after including sex-genotype interaction, they explained 52% of the residual variance. Results of our study also indicated that the inherited difference in the skeletal aging pattern in men lies mostly in the rate of aging, but in women in the age of the onset of the period of visible skeletal changes.

The substantial involvement of genetic factors in the determination of head-size and head-shape traits has been firmly established. However, there has been a lack of agreement on a number of specific issues concerning the pattern of inheritance of craniofacial features. In this study we examined some of these issues in a large, ethnically homogeneous sample of Indian pedigrees. The data included 1,263 individuals belonging to 373 nuclear families. Eleven raw head-size traits and two synthetic phenotypes, interpreted as horizontal and vertical head-size components (HOC and VEC, respectively), were used in the analysis. To establish the pattern of inheritance of head traits, we carried out univariate and bivariate analyses. Maximum heritability estimates ranged from 0.41 to 0.83 for the studied head-size phenotypes. The portion of the total residual variance attributable to putative additive genetic factors was 68.3% and 70.3% for HOC and VEC, respectively, and common familial factor effects were found to be nonsignificant. The extent of genetic influences did not differ significantly with respect to sex or between HOC and VEC. The results of bivariate variance decomposition analysis strongly suggest the existence of common genetic factors simultaneously affecting HOC and VEC; 41.8% of the two traits' total residual variance was attributable to the effect of these common genetic factors.

Objective: The aims of the present study were (1) to evaluate whether development of enthesophytes is an age- and/or sex-associated phenomenon; (2) to clarify whether enthesophyte development is controlled by genetics; (3) to evaluate the correlations between the enthesophytes and osteophytes of the hand joints., Design: The studied cohort comprised 359 Chuvashian (Russian Federation) pedigrees (424 nuclear families) and included 786 males and 723 females aged 18-90 years. The enthesophyte score (ES) was constructed as the overall number of enthesophytes at the midshaft of the phalanges of the second to the fifth fingers of both hands. The osteophyte score (OS) was constructed similarly. We used variance component (VC) analysis to examine the age-related patterns and compare the contribution of the genetic and common environmental factors to ES and OS variations., Results and Conclusions: After age 25, ES increases with age (on average linearly). Age explains 45% of the ES variation in males but only 25% of the variation in females, in contrast to about 75% of the variation of OS in both sexes. At any age, males showed higher ES than females and the difference between sexes increased with age. Genetic components explained 20% of enthesophyte development variation. We did not find common additive genetic factors for ES and OS. The correlation coefficients between ES and OS were r=0.62 (P=0.0001) in males and r=0.50 (P=0.0001) in females. After age adjustment, the correlation decreased to r=0.087 (P=0.014) and r=0.14 (P=0.001) correspondingly. Most probably, enthesophytes and osteophytes are manifestations of different etiological processes.