Congenital cleft lip and fluctuating dermatoglyphic asymmetry.

Fluctuating asymmetry for the palmar atd angle was studied in propositi born with CL(P) and their normal parents and sibs. The propositi with a family history of this congenital malformation were significantly different from the controls for this type of asymmetry. The propositi without a family history and the normal parents and sibs of both types of propositi were similar to the controls. The difference between the two types of propositi suggests that in some individuals a genetic mechanism may account for CL(P) and increased fluctuating asymmetry for this dermatoglyphic trait.     

Risk for schizophrenia and schizophrenia-like psychosis among patients with epilepsy: population based cohort study

Objectives To investigate whether age at onset of epilepsy, type of epilepsy, family history of psychosis, or family history of epilepsy affect the risk of schizophrenia or schizophrenia-like psychosis among patients with epilepsy.Design Comparison of population based data.Setting Danish longitudinal registers.Subjects The cohort comprised 2.27 million people.Main outcome measures Epilepsy, psychosis, personal birth data.Results We found an increased risk of schizophrenia (relative risk 2.48, 95% confidence interval 2.20 to 2.80) and schizophrenia-like psychosis (2.93, 2.69 to 3.20) in people with a history of epilepsy. The effect of epilepsy was the same in men and in women and increased with age. Family history of psychosis and a family history of epilepsy were significant risk factors for schizophrenia and schizophrenia-like psychosis, and the effect of epilepsy, both in cases and families, was greater among people with no family history of psychosis. In addition, the increased risk for schizophrenia or schizophrenia-like psychosis did not differ by type of epilepsy but increased with increasing number of admissions to hospital and, particularly, was significantly greater for people first admitted for epilepsy at later ages.Conclusions There is a strong association between epilepsy and schizophrenia or schizophrenia-like psychosis. The two conditions may share common genetic or environmental causes.     

The Association between Intelligence Scores and Family History of Psychiatric Disorder in Schizophrenia Patients,Their Siblings and Healthy Controls

Background

The degree of intellectual impairment in schizophrenia patients and their relatives has been suggested to be associated with the degree of familial loading for schizophrenia. Since other psychiatric disorders are also more present in relatives of schizophrenia patients, the definition of family history should be broadened. The association between family history for psychiatric disorder and intelligence scores was investigated in patients with non-affective psychosis, their unaffected siblings and controls.

Methods

A sample of 712 schizophrenia proband families (696 patients and 766 siblings) and 427 healthy control families (517 subjects) participated in this study. Family history of psychiatric disorder was determined while excluding the data of the participating schizophrenia patient. A dichotomous division was made between families with no first- or second degree relative with psychiatric disorder and families with one or more affected relatives. Total intelligence scores were estimated by admission of the short form of the Wechsler Adult Intelligence Scale III.

Results

A significant interaction was found between family history of psychiatric disorder and clinical status (F(2,1086.87)= 4.17; p=.016). Patients with a positive family history of psychiatric disorder obtained higher intelligence scores compared to patients with no family history (mean IQ scores are 95.52 and 92.72) with an opposite effect in controls (mean IQ scores are 108.71 and 111.19). No significant difference was found between siblings of schizophrenia patients with or without a positive family history (mean IQ scores are 102.98 and 103.24).

Conclusion

In patients with schizophrenia, a negative family history of psychiatric disorder was associated with relatively low IQ suggesting that the etiology in these patients may involve environmental or genetic factors which are unique to the patient and are not observed in other relatives. Possible factors include severe environmental stressors containing premature birth or brain injury and genetic factors (e.g de novo Copy Number Variants).     

Palmar flexion creases in schizophrenia

Palmar flexion creases have been studied in schizophrenics with a family history of schizophrenia or other psychiatric disorders and without such a background, and compared to a control population. Palmar flexion creases have been analyzed according to the method suggested byBali & Chaube (1971). When compared to controls, differences in the DRBC and TRBC frequencies are significant in the subgroup with no family history, supporting the existence of biological heterogeneity in schizophrenia, and of congenital factors when there is no known genetic background.     

Inheritance of human finger and palm dermatoglyphic characteristics]

The degree of genetic determination of 25 quantitative dermatoglyphic characteristics has been studied on family: twin material: 45 pairs of MZ and 75 single-sex DZ twins; and 53 single-sex "parent-child" pairs. Approximating formulae were used to estimate main components of phenotypic variance due to additive interaction of genetic factors, to non-linear effects (intralocus dominance) and to the effect of total-familiar and random environmental factors. All the finger dermatoglyphic characteristics studied had a high degree of genetic determination (G greater than 0,80), and for most of them the contribution into the large variance of intralocus dominance effects was comparable with that of additive gene interaction, included in the determination of these characters. There are some palm dermatoglyphic characteristics ("ad" distance "cd" comb counting, "bad", "adt" and "cda" angles), which degree of genetic determination is low (G less than 0,35). At least ten quantitative finger and palm dermatogliphic characteristics with a high degree of genetic determination can be used for special studies in frames of multidimentional genetical analysis, including determination of twin zygosity type. Earlier described "indices" (using twin data) of relative role of genetic and environment factors in the determination of populational variability of quantitative characters are considered. None of them is shown to be a reliable estimate of the coefficient of genetic character determination. The use of these indices in practical studies can result in wrong conclusions on the degree and the character of genetic determination of quantitative characters.     

Properdin factor B (Bf) types in schizophrenia

The phenotype frequencies of properdin factor B (Bf) were studied in patients with (n = 47) and without (n = 66) a family history of schizophrenia and in controls. In patients with a family history of schizophrenia, a significant decrease of the FS type was found. No significant difference was found between patients without a family history of schizophrenia and controls.     

A study of the association between schizophrenia and the dopamine D3 receptor gene

A study of the genetic association between schizophrenia and aBalI polymorphism in exon 1 of the dopamine D₃ (DRD3) gene, a candidate gene for schizophrenia, was conducted. The polymorphism was examined in 91 patients whose symptoms satisfied DSM-III-R for schizophrenia and 90 controls. There were no significant differences between the groups in allele frequencies or genotype counts. Contrary to a previous report, the patients were no more likely to be homozygous than controls. Moreover, no association with the presence of illness could be demonstrated when the patients were grouped according to sex, age of onset, history of admission to psychiatric institutions or positive family history.     

The DTNBP1 (dysbindin) gene contributes to schizophrenia, depending on family history of the disease

We have investigated the gene for dystrobrevin-binding protein 1 (DTNBP1), or dysbindin, which has been strongly suggested as a positional candidate gene for schizophrenia, in three samples of subjects with schizophrenia and unaffected control subjects of German (418 cases, 285 controls), Polish (294 cases, 113 controls), and Swedish (142 cases, 272 controls) descent. We analyzed five single-nucleotide polymorphisms (P1635, P1325, P1320, P1757, and P1578) and identified significant evidence of association in the Swedish sample but not in those from Germany or Poland. The results in the Swedish sample became even more significant after a separate analysis of those cases with a positive family history of schizophrenia, in whom the five-marker haplotype A-C-A-T-T showed a P value of.00009 (3.1% in controls, 17.8% in cases; OR 6.75; P=.00153 after Bonferroni correction). Our results suggest that genetic variation in the dysbindin gene is particularly involved in the development of schizophrenia in cases with a familial loading of the disease. This would also explain the difficulty of replicating this association in consecutively ascertained case-control samples, which usually comprise only a small proportion of subjects with a family history of disease.     

精神分裂症患者皮纹a-b嵴线数波动性不对称的研究

本文分析了精神分裂症患者134例(男性70例,女性64例)和正常对照人群331例(男性170例,女性161例)皮纹a-b嵴线数波动性不对称的分布特征。结果表明:⑴精神分裂症患者双手皮纹a-b嵴线数明显低于正常对照组(P<0.01),表现出明显增高。     

On the genetic interrelationships of South African Negroes

This study addresses the comparative genetic interrelationships between South African Negro groups. For this the genetic distances between seven ethnically defined Negro subsamples (total of 998 individuals) based on 24 genetic loci/polymorphisms are calculated by applying standard distance formulae. These computations offer an opportunity to evaluate the different polymorphisms in terms of their effects on the genetic distances. The genetic interrelationships thus computed are illustrated by way of dendrograms and are discussed in terms of their comparative significance. It follows from the findings that the Ndebele, Northern Sotho (Pedi), and Tswana form a closely related subcluster and that the Zulu and Swazi as well as the Venda and Shangana-Tsonga form two additional, more distant, subclusters. These results are discussed and tentatively interpreted against the background of the reported Khoisan admixture of the populations concerned as well as their ethnological history. The data are also compared to those derived from metric and dermatoglyphic studies. It is concluded that whereas there is some agreement between these categories of variation (genetic, metric, and dermatoglyphic) as far as the comparative evaluation of South African Negro groups is concerned, there also are discrepancies. These conclusions need to be explained in terms of evolutionary mechanisms (such as historic origins, hybridization, natural selection, and genetic drift) in order to obtain a more consistent and comprehensive comparative picture of the physical anthropology of southern African populations.     

Anthropological studies in Assam, India

Four Assamese caste groups--Jogis, Hiras, Kumars and Kaibartas--have been analysed for the distribution of anthropometric and dermatoglyphic traits as well as for the distribution of ABO blood groups and PTC taste sensitivity. The differences among these four caste groups are statistically mostly significant, which can be connected with the history of these groups and their genetic isolation from each other.     

Trends in dermatoglyphic research

A brief update of recent developments and trends in dermatoglyphic research is presented, based on a 1980–87 literature review. The discussed topics include anthropological, genetic, medical and developmental studies of the epidermal ridge patterns and flexion creases, including dermatoglyphic variability, new methodological and classification approaches, studies of nonhuman primates and of other experimental animals. Rather than an exhaustive survey of the existing literature, the purpose of this communication is to point out specific accomplishments, novel approaches, and emerging trends in various fields of dermatoglyphic research.     

Does consanguinity increase the risk of schizophrenia? Study based on primary health care centre visits

Background Consanguinity has been suggested as a risk factor for the development of schizophrenia in offspring in some Middle Eastern countries.Aim The purpose of this study was to review the frequency, pattern of parental consanguinity, and family history of schizophrenia among schizophrenia patients in Qatar, and to determine their impact on the associated risk factors.Design This is a cross-sectional study which was conducted between January 2009 and December 2010, in the setting of primary health care (PHC) centres of the Supreme Council of Health, State of Qatar.Subjects A total of 1491 patients aged 18–55 years were approached, of whom 1184 individuals agreed to participate in the study, giving a response rate of 79.4%.Methods The study was based on face-to-face interviews using a specially designed questionnaire that covered sociodemographic characteristics and genetic and other biological factors (e.g. obstetric complications), and a diagnostic screening questionnaire which consisted of six questions about the symptoms of schizophrenia. The diagnostic screening questionnaire was reviewed and used to calculate the final score, which determined a provisional diagnosis. The psychiatrists discussed the psychiatric diagnosis and confirmed it using DSM-IV criteria. The degree of consanguinity between the patient''s parents was recorded. Consanguinity was evaluated based on the coefficient of inbreeding (F), which is the probability of homozygosity.Results More than half of the schizophrenia patients were female (57.1%) and over 45 years of age (62.5%). A family history of schizophrenia was significantly more common in parents of schizophrenia patients than in the Arab population without schizophrenia (24.6% vs. 17.1%; P = 0.038). Parental consanguinity was elevated among the patients with schizophrenia (41.3%) with a higher mean coefficient of inbreeding (0.04356 ± 0.028) than in non-schizophrenic subjects (28.7%) with a lower mean coefficient of inbreeding (0.0298 ± 0.035). Schizophrenia diagnoses were more frequent among the offspring of consanguineous parents than among the offspring of non-consanguineous parents.Conclusion The substantial risk observed in the present study reveals that consanguinity is an important risk factor for schizophrenia in Qatar. In addition, the study confirms that the higher familial risks provide strong genetic epidemiological evidence for the overall heritable effects in the aetiology of schizophrenia.     

The dermatoglyphic characteristics of patients with ischemic heart disease]

The dermatoglyphic studies showing the existence of genetic predisposition to the development of coronary heart disease were conducted. Methods based on the mathematical theory of pattern recognition were used for multifactorial analysis of the material. It was established that complex evaluation of 20 dermatoglyphic parameters could be reliable in predicting genetic risk factor in the development of this cardiovascular pathology.     

DNA Methyl Transferase (DNMT) Gene Polymorphisms Could Be a Primary Event in Epigenetic Susceptibility to Schizophrenia

DNA methylation has been implicated in the etiopathology of various complex disorders. DNA methyltransferases are involved in maintaining and establishing new methylation patterns. The aim of the present study was to investigate the inherent genetic variations within DNA methyltransferase genes in predisposing to susceptibility to schizophrenia. We screened for polymorphisms in DNA methyltransferases, DNMT1, DNMT3A, DNMT3B and DNMT3L in 330 schizophrenia patients and 302 healthy controls for association with Schizophrenia in south Indian population. These polymorphisms were also tested for subgroup analysis with patient''s gender, age of onset and family history. DNMT1 rs2114724 (genotype P = .004, allele P = 0.022) and rs2228611 (genotype P = 0.004, allele P = 0.022) were found to be significantly associated at genotypic and allelic level with Schizophrenia in South Indian population. DNMT3B rs2424932 genotype (P = 0.023) and allele (P = 0.0063) increased the risk of developing schizophrenia in males but not in females. DNMT3B rs1569686 (genotype P = 0.027, allele P = 0.033) was found to be associated with early onset of schizophrenia and also with family history and early onset (genotype P = 0.009). DNMT3L rs2070565 (genotype P = 0.007, allele P = 0.0026) confers an increased risk of developing schizophrenia at an early age in individuals with family history. In-silico prediction indicated functional relevance of these SNPs in regulating the gene. These observations might be crucial in addressing and understanding the genetic control of methylation level differences from ethnic viewpoint. Functional significance of genotype variations within the DNMTs indeed suggest that the genetic nature of methyltransferases should be considered while addressing epigenetic events mediated by methylation in Schizophrenia.     

A Rare Duplication on Chromosome 16p11.2 Is Identified in Patients with Psychosis in Alzheimer's Disease

Epidemiological and genetic studies suggest that schizophrenia and autism may share genetic links. Besides common single nucleotide polymorphisms, recent data suggest that some rare copy number variants (CNVs) are risk factors for both disorders. Because we have previously found that schizophrenia and psychosis in Alzheimer''s disease (AD+P) share some genetic risk, we investigated whether CNVs reported in schizophrenia and autism are also linked to AD+P. We searched for CNVs associated with AD+P in 7 recurrent CNV regions that have been previously identified across autism and schizophrenia, using the Illumina HumanOmni1-Quad BeadChip. A chromosome 16p11.2 duplication CNV (chr16: 29,554,843-30,105,652) was identified in 2 of 440 AD+P subjects, but not in 136 AD subjects without psychosis, or in 593 AD subjects with intermediate psychosis status, or in 855 non-AD individuals. The frequency of this duplication CNV in AD+P (0.46%) was similar to that reported previously in schizophrenia (0.46%). This duplication CNV was further validated using the NanoString nCounter CNV Custom CodeSets. The 16p11.2 duplication has been associated with developmental delay, intellectual disability, behavioral problems, autism, schizophrenia (SCZ), and bipolar disorder. These two AD+P patients had no personal of, nor any identified family history of, SCZ, bipolar disorder and autism. To the best of our knowledge, our case report is the first suggestion that 16p11.2 duplication is also linked to AD+P. Although rare, this CNV may have an important role in the development of psychosis.     

Genetic markers in schizophrenia: ACP1, ESD, TF and GC polymorphisms

Genetic variants of red-cell acid phosphatase (ACP1), esterase D (ESD), transferrin (TF) and the group-specific component (GC) were investigated in schizophrenic patients with and without a family history of both schizophrenia and other psychiatric disorders. No evident association was found with respect to ACP1, TF and GC systems. A significant difference in the frequency of ESD heterozygotes was found between patients with and without a family history of schizophrenia.     

Sole dermatoglyphics in the forest Nentsy,Nganasans, and Chukchi: Dermatoglyphic distances

Sole dermatoglyphics of the aborigines of Northwestern Siberia, Taimir, and Kamchatka are presented in this paper. The distance coefficients based on various combinations of dermatoglyphic traits depending on their heritability were estimated. These were compared with the overall dermatoglyphic distance coefficients as well as with the genetic (dermatoglyphic) distance coefficients based on six blood groups (ABO, MNSs, P, Fy, Jk, Kp). Genetic interpretation of the distances was attempted in connection with analysis of differences or similarities between these populations.     

HLA antigens in patients with and without a family history of schizophrenia

Frequencies of HLA antigens (A, B, C and DR) were studied in patients with (n = 49) and without (n = 67) a family history of schizophrenia and in controls. Among the patients with a family history of schizophrenia significant increases were found in the A3 and B5 antigens while significant decreases were observed for the A1, A11 and B8 antigens. In a material of schizophrenic siblings the sharing of HLA haplotypes was consistent with normal segregation.