Genetics of dermatoglyphic asymmetry in Vaidyas of West Bengal, India

In this study of the genetics of dermatoglyphic asymmetry, we collected bilateral finger and palm prints of 824 individuals from 200 families including 2 generations from an endogamous caste (Vaidya) in Barasat, North 24-Parganas District, West Bengal. Two main types of asymmetry (fluctuating asymmetry and directional asymmetry) were calculated between the two hands. The study includes familial correlation between first-degree relatives, principal-components analysis, and maximum-likelihood-based heritabilities (by pedigree analysis). We found, first, that familial correlations in all possible pairs of relationships (except spouse correlation) were weak but positive; some were even statistically significant. No indication of assortative mating was observed, but the influence of maternal environment could not be discarded. The results also showed that X-chromosome linkage does not seem to be involved. A second major finding is that five principal factors could be extracted from all these asymmetric traits, explaining 74.207% of the overall cumulative variance. Asymmetry of finger and palmar areas were clearly separated by factor. In addition, the heritabilities of the extracted five factors were in the range of 8-24%. These estimates are in agreement with some previously published data. The heritabilities of the factors describing palmar asymmetry are slightly lower than those describing finger asymmetry. The present results support the hypothesis that both types of asymmetry have a genetic basis and are influenced by the intrauterine environment.     

Inheritance of finger pattern types in MZ and DZ twins

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.     

Genetic determination of head-size-related anthropometric traits in an ethnically homogeneous sample of 373 Indian pedigrees of West Bengal

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.     

Genetic and environmental correlations between bone mineral density and bone size in Caucasians

To explore the magnitude of common genetic and environmental effects shared by bone mineral density (BMD) and bone size (BS) in a large sample of 4,489 subjects (2,667 females and 1,822 males) from 582 Caucasian pedigrees, we performed a bivariate variance decomposition analysis to evaluate genetic correlation (rhoG), environmental correlation (rhoE), and phenotypic correlation (rhoP) between BMD and BS at the spine and hip, as well as their "synthesized" skeletal site (bone mineral density principal component, bone size principal component) generated by principal components analysis. Significant rhoG, rhoE, and rhoP were detected, but the shared genetic influence on BMD and BS was only 21%, 1.3%, and 11.6% at the spine, hip, and their joint variable, respectively. The results suggest that it may be important to choose both BMD and BS, especially at the hip, as surrogate phenotypes for osteoporosis genetic studies in Caucasians.     

Sexual dimorphism in the Chuvashian population of Russia in two types of dermatoglyphic traits: principal component analysis

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.     

蒙古国喀尔喀部蒙古族4项群体指趾遗传学特征研究

在内蒙古民族大学调查了160例(男66例,女94例)来自蒙古国的喀尔喀蒙古族留学生的拇指类型、环食指长、指甲形状、足趾长4项群体指趾遗传学特征。研究结果:1)直型拇指率为44.38%,环指长率78.13%,指甲形状长型率58.75%、方型率6.88%、扁型率34.38%,足趾类型拇趾长率35.00%;2)指甲形状出现率性别间差异具统计学意义,两两特征间均未表现出明显相关关系;3)与我国10个蒙古族族群相比,多数差异具有统计学意义。     

Genetic and environmental influences on IL-6 and TNF-alpha plasma levels in apparently healthy general population

Dysregulation of cytokines synthesis is thought to play a role in the development of a number of age-related conditions, such as rheumatoid arthritis, osteoporosis, atherosclerosis, and others, but observational studies have led to contradictory results. We investigated potential familial influences on the plasma levels of IL-6 and TNF-alpha in 91 nuclear and more complex pedigrees of Caucasian ethnic origin (N=401 individuals). The maximum likelihood based variance decomposition analysis showed significant positive correlation between circulating IL-6 and age in both genders. The magnitude of these correlations in our sample ranged from 0.22 in females to 0.28 in males (P<0.001). Significant association between TNF-alpha and IL-6 (r=0.28, r=0.43; P<0.001; respectively for men and women) was also observed. Likelihood ratio test clearly revealed that additive genetic effect for TNF-alpha was highly significant (P<0.001), and accounted over 80% of its variation, adjusted for IL-6 levels and age. In contrast, heritability estimate for IL-6 adjusted for age and TNF-alpha, revealed small contribution of genetic factors (24.1 +/- 10.2%). The bivariate variance component analysis demonstrated that significant relationship between IL-6 and TNF-alpha was due to shared environment only (r(E)=0.760 +/- 0.140). As evinced from our complex segregation analysis the nature of the genetic determinant of each of these two cytokines is quite complex and it is probably oligogenic.     

Latent structure of dermatoglyphics in gastric cancer patients

Gastric cancer is a very common malignant disease, which etiology is still unknown. It is believed that it is caused by a joint activity of both genetic and environmental factors. Gastric cancer between relatives in some families is almost four times higher and in connection with truncating mutations in the E-cadherin gene. The Helicobacter pylori are also established carcinogen and this infection increases the cancer risk by about 5 times. Digito-palmar dermatoglyphics have already been used for determining hereditary base of some malignant diseases (breast, lung, colorectal cancer etc.), which was the encouragement to investigate the latent structure in patients with gastric cancer (36 males and 32 females) and the control groups (50 males and 50 females). The factor analysis has shown that in both males and females with gastric cancer 5 factors were extracted and in males 77.17% and in females 78.92% of total variance was explained, and this result is different from control group where in males 5 factors and 75.97% of total variance were explained while in control females 6 factors and 82.86% of total variance were explained. The finger ridge counts are extracted on the first factor in all groups. In patients the second factor is formed by the first, fourth and fifth fingers, while in controls mostly by palmar variables. From the obtained findings it can be concluded that the results of latent structure in quantitative analysis of digito-palmar dermatoglyphics are affirming the existence of genetic differences in patients suffered with gastric cancer.     

Quantitative digital and palmar dermatoglyphics among Sardinian linguistic groups

Discriminant analyses of 23 digital and 15 palmar quantitative dermatoglyphic variables of 1364 Sardinians, 689 males and 675 females, were performed to identify biological relationships among five Sardinian linguistic groups of both sexes. By various subsets of dermatoglyphic variables (23 and 20 digital, 15 and 14 palmar, 4 summary traits) MANOVA revealed high intergroup heterogeneity among the groups of both sexes and within each sex. In the latter case the males are an exception when 15 and 14 (MLI removed) palmar variables are used. Standard discriminant analysis of the 23 digital variables, i.e. the radial and ulnar ridge counts on each of the 10 fingers plus total finger ridge count (TFRC), absolute finger ridge count (AFRC) and pattern intensity (PI), resulted in imperfect separation of males and females and an unclear picture of the biological relationships among the groups. In contrast, standard discriminant analysis of 20 digital variables (TFRC, AFRC and PI were removed from the analysis) resulted in separation of the sexes and a pattern of relationships among the populations consistent with their ethno-historical backgrounds. Standard discriminant analysis of 15 palmar dermatoglyphic variables failed to provide separation of the sexes and produced a pattern of relationships in disagreement with both the linguistic and ethno-historical backgrounds, even removing MLI (Main Line Index). Standard discriminant analysis of 4 summary dermatoglyphic variables (TFRC, AFRC, PI and MLI) yielded imperfect separation of males and females and an unclear pattern of relationships. By stepwise discriminant analysis with p < or = 0.01 as F-to-enter and p < or = 0.05 as F-to-remove, only 4 of the 38 digital and palmar variables were in the model (URC R5, RRC L5, RRC R5, URC R4). The pattern of inter-population biological relationships was conceptually similar to the one produced by the 20 digital variables. It showed a clear separation of the Gallurian group (both males and females), which speaks an Italian dialect. The properly Sardinian linguistic groups (Campidanian and Logudorian), the Sassarian group (which speaks an Italian dialect) and the Alghero group (which speaks Catalan) were close to one another. This picture agrees with the ethno-historical background rather than with the linguistic one.     

Bivariate and multivariate analysis of the skin ridge pattern intensities

Bivariate correlations and multivariate (factor) analysis of pattern intensities on individual fingers and all specified areas of palms and soles were performed in a large sample of 834 individuals from two rural districts of Poland, and in a sample of 383 school children from the city of Warsaw, with males and females considered separately. Eleven factors were extracted in all samples, including two for finger pattern intensities, and the remaining nine for palmar or sole individual areas, or some of their combinations. Patterns of intercorrelation between variables and the factor structure matrices were essentially similar in all subsamples, but several factors differed in the amount of variance they contributed to individual variables, or the factors occupied somewhat different positions when ranked in respect of the contribution to the total variance. Orthogonal and oblique rotation were applied to the data, but only the results of the latter were tabulated and fully discussed. In contrast with finger patterns, separate and independent factors have mainly been extracted for individual pattern intensities on palms or soles. Nevertheless the obtained factor solution on the whole is not incompatible with the concept of developmental induction fields. It is postulated that the factor structure may be susceptible to natural selection acting through functional preferences in man, and that epistatic interaction may account for some common factors.     

Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level.

In order to establish the relative importance of genetic factors on the variation in plasma concentration of coagulation factors VIII and IX, these parameters were determined in 74 monozygotic and 84 like-sexed dizygotic twin pairs. The twins belonged to two age groups: 33-39 years and 57-62 years. Factor VIII was determined as factor VIII coagulant antigen (VIIICAg) and as factor VIII-related antigen (VIIIRAg). Factor IX was determined as factor IX antigen (IXAg). A higher value for each coagulation factor was found in the older-age group compared to the younger group, whereas no difference was found between the sexes. A significant correlation was found between values for VIIIRAg and VIIICAg (r = .56). For VIIICAg, it could be demonstrated that the age effect was secondary to the age effect on VIIIRAg. The concentration of VIIICAg and VIIIRAg varied among ABO blood types, being lowest in type O individuals, higher in A2 individuals, and highest in A1 and B individuals. The effect of the ABO locus on VIIICAg was secondary to an effect on VIIIRAg. Analysis of variance revealed a significant genetic influence on the variance of VIIICAg and VIIIRAg with a heritability estimate of .57 for VIIICAg and .66 for VIIIRAg. This is in agreement with a previous hypothesis of an effect of several autosomal genes on factor VIII concentration. Thirty percent of the genetic variance of VIIIRAg was due to the effect of ABO blood type. The ABO locus is therefore a major locus for the determination of factor VIII concentration. No significant genetic effect on the variation in plasma concentration of IXAg could be detected.     

Palmar dermatoglyphic patterns in twins

The role of genetic factors in the determination of palmar dermatoglyphic patterns was investigated in a series of 49 MZ and 51 DZ twins, using Spearman's rank correlation and analysis of variance. Both methods indicated that the genetic effect in the distribution of patterns is highest in the interdigital III and lowest in the interdigital IV regions, the hypothenar and thenar showing intermediate values. As for interdigital II, no evaluation of genetic effects was possible using the nonparametric test, but the estimates of genetic variance indicate that inherited factors may play a relatively minor role in the pattern distribution of this area.     

Factor analysis for genetic evaluation of linear type traits in dual-purpose autochthonous breeds

Factor analysis was applied to individual type traits (TT) scored in primiparous cows belonging to two dual purpose Italian breeds, Rendena (REN; 20 individual type traits evaluated on 11 399 first parity cows), and Aosta Red Pied (ARP; 22 individual type traits evaluated on 36 168 primiparous cows). Six common latent factors (F1 to F6; eigenvalues ⩾1) which explained 63% (REN) and 58% (ARP) of the total variance were obtained. F1 included TT mainly related to muscularity, and F2 to body size. The F3 and F4 accounted for udder size and conformation, respectively. F5 included rear legs and feet. Biological significance for F6 was not readily obtained. Moderate to low heritability were estimated through REML single-trait analysis from factor scores (from 0.22 to 0.52 in REN, and from 0.08 to 0.37 in ARP). The greatest heritability values were estimated for body size and muscularity (0.52 and 0.37 for body size; and 0.40 and 0.32 for muscularity in REN and ARP, respectively). As expected, rank correlations, obtained considering estimated breeding values derived from best linear unbiased prediction analysis on the individual TT and factor score, showed similar coefficients to those observed in the factor analysis following loading of TT within each latent factor. These results suggest the possibility to implement the factor analysis in the morphological evaluation, simplifying the information given by the type traits into new variables useful for the genetic improvement of dual purpose cattle.     

Hand locomotor functions, body structure, and epidermal ridge patterns: preliminary study

The purpose of this study was to determine whether any relationships exist between hand locomotor functions and dermatoglyphic characteristics and body structure. The pilot sample consisted of 71 adult normal individuals (30 males and 41 females). The locomotor function tests included a power grip and two precision grips; dermatoglyphic features were represented by finger and palmar pattern intensities and ridge counts, and body structure by 35 head, face, trunk, and limb anthropometric measurements. Univariate and multivariate correlation analyses reveal that on average half of the variance in the locomotor hand-function tests can be accounted for by a set of body and/or dermatoglyphic variables in males; this contribution is appreciably lower in females. Body longitudinal measurements and some facial measures, such as jaw length, were found to be the main correlates of either a power grip or a simple thumb-index squeeze, especially in males; head and face measurements and the size and intensity of patterns on fingers 1 and 2 were the main correlates of more complex precision tests involving complicated manipulation of objects using the thumb and index finger. These preliminary results identify some previously unknown sources of variation in dermatoglyphic patterns and contribute to a better understanding of the evolutionary aspects of the relationships between specific functional and morphologic traits in humans.     

Fingerprint pattern factors

Factor analysis was employed using the ulnar ridge count, radial ridge count, ridge count (the larger of the radial or ulnar count as generally used for calculating total ridge count), and pattern type for each finger in 720 twins. Pattern type and ulnar count displayed parallel factor loadings while loadings for radial and ridge count also paralleled each other. This relationship did not hold for the index finger, indicating the importance of pattern direction and greater pattern diversity for this digit. Total ridge count was most closely associated with a factor of ring and little finger radial and ridge count and only secondarily with an index finger factor. When radial and ulnar counts were deleted to make comparisons with earlier studies, the result was factors having groupings of variables identical with previous reports. It appears that factor analysis results in consistent extraction of identical or very similar factors from different populations, and the use of radial and ulnar counts adds more information than when only the larger of the two counts is considered.     

Dermatoglyphic characteristics of a population from the central Rhodopes (south Bulgaria)

The finger and palmar prints of a total of 386 individuals (182 males and 204 females) at an age between 10 and 18 years from the region of the villages Petkovo and Banite, situated along the river Malka Arda in the Central Rhodopes, were studied. The following dermatoglyphic traits were analyzed: pattern intensity index (PII), the main line or Cummin's index (MLI), the frequencies of the proximal palmar triradius (t), the true hypothenar patterns (Hy) and the accessory interdigital triradii (AIT). The specific dermatoglyphic complexes after Heet were also determined for the population under study. A peculiarity of this population is the appearance of a clearly expressed Eastern Complex (EC), which accounts for 53.1% in the males and for 48.8% in the females. These values of EC and the calculated dermatoglyphic distances (DD) after Heet show a similarity between the examined population and a number of populations from the Volga region, Northern Caucasus, Middle Asia and Siberia. This similarity could be explained with the preservation of the genetic heritage of the proto-Bulgarians, one of the three main components of the modern Bulgarians.     

Molecular variation at functional genes and the history of human populations--data on candidate genes for cardiovascular risk in the Mediterranean

A screening of 22 DNA polymorphisms has been performed in western Mediterranean populations (Iberian Peninsula, Morocco, and Central Mediterranean Islands). The analyzed markers correspond to polymorphic sites in several candidate genes for cardiovascular disease including apolipopoteins and their receptors (APOA1, APOB, APOE, APOC1, APOC2, LPA, and LDLR), genes implied in the hemostasis regulation (Factor VII, alpha and beta-fibrinogen, alpha and beta platelet-integrin, tissue plasminogen activator, and plasminogen activator inhibitor-1), and the angiotensin converting enzyme gene. The results are presented of a partial analysis carried out in following population samples: 6 from the Iberian Peninsula, 2 from Morocco, and 3 from Central Islands. The degree of inter-population diversity was significant and consistent with data from other kind of genetic polymorphisms. The apportionment of the allele frequency variance supported a geographic structure into three main regions: Central Mediterranean Islands, the Iberia Peninsula and North Africa. The genetic distance pattern is compatible with a south-to-north North African influence in the Iberian Peninsula and a remarkable gene flow from sub-Saharan Africa into Morocco. Epidemiologically, North Africa is characterized by high frequencies of LPA PNR alleles with high number of repeats (protective for cardiovascular risk) and high frequencies of the APOE*E4 allele (risk factor) as compared with European populations.     

Dermatoglyphic variation and weight and length at birth

Relationships between dermatoglyphic variables, including finger ridge counts and finger, palmar, and plantar pattern intensities, and weight and length at birth, were tested in a sample of 184 boys and 202 girls from Warsaw schools. No convincing evidence for such relationships has been obtained from the results of correlations and one-way analysis of variance, although there are indications that some palmar traits may be related to length at birth in females. The data agree with the common belief that birth weight and birth length are mainly determined by influences operating in later stages of pregnancy, that is, after the 20th gestational week.     

Familial Clustering of Abdominal Visceral Fat and Total Fat Mass: The Québec Family Study

The evidence for common familial factors underlying total fat mass (estimated from underwater weighing) and abdominal visceral fat (assessed from CT scan) was examined in families participating in phase 2 of the Québec Family Study (QFS) using a bivariate familial correlation model. Previous QFS investigations suggest that both genetic (major and polygenic) and familial environmental factors influence each phenotype, accounting for between 55% to 71% of the phenotypic variance in fat mass, and between 55% to 72% for abdominal visceral fat The current study suggests that the bivariate familial effect ranges from 29% to 50%. This pattern suggests that there may be common familial determinants for abdominal visceral fat and total fat mass, as well as additional familial factors which are specific to each. The relatively high spouse cross-trait correlations usually suggest that a large percent of the bivariate familial effect may be environmental in origin. However, if mating is not random, then the spouse resemblance may reflect either genetic or environmental causes, depending on the source [i.e., through similar genes or cohabitation (environmental) effects]. Finally, there are significant sex differences in the magnitude of the familial cross-trait correlations involving parents, but not offspring, suggesting complex generation (i.e., age) and sex effects. For example, genes may turn on or off as a function of age and sex, and/or there may be an accumulation over time of effects due to the environment which may vary by sex. Whether the common familial factors are genetic (major and/or polygenic), environmental, or some combination of both, and whether the familial expression depends on sex and/or age warrants further investigation using more complex models.