The association of 20 short tandem repeat loci of autosomal chromosome with male schizophrenia.

INTRODUCTION: Schizophrenia's heritability and familial transmission have been known for several decades. The male-specific Y chromosome plays an important role in schizophrenia. Short tandem repeats (STRs)have been recognized as risk genes in the development of schizophrenia. Here, we investigated the association between male schizophrenia and Y-chromosomal STRs loci. METHODS: We recruited 355 patients with schizophrenia and 473 healthy males for physical examination and amplified them with a PowerPlex 21 System fluorescence-labeled composite amplification System. Then, the resultant products were separated by electrophoresis and further detected. Finally, differences in allele and genotype frequency distributions of STR loci were observed. RESULTS: Our results showed that all 20 STR loci were in accordance with Hardy-Weinberg's law (p > .05). There were statistically significant differences in alleles of D13S317 and D5S818 loci and genotype frequency distribution between the two groups (alleles: p = .039, p = .022, respectively; genotype: p = .0004, p = .011, respectively). However, there was no difference in the other autosomal 18 STR loci between the two groups (p > .05). Univariate analysis showed that the frequency distribution differences of allele 11 and genotype 10-11 at the D13S317 locus between the two groups were significant (compared to the controls, p = 0.005, odds ratio (OR) = 1.37, 95%b confidence interval (CI) = 1.10-1.71, compared to the controls, p = .0000002, OR = 3.92, 95% CI = 2.27-6.77, respectively). The frequency distribution differences of allele 7 and genotype 7-10 at D5S818 between the two groups were significant (compared to the controls, p = .0006, OR = 3.42, 95% CI = 1.63-7.16, compared to the controls, p = .0011, OR = 8.24, 95% CI = 1.83-37.05, respectively). CONCLUSION: Polymorphisms of the D13S317 and D5S818 loci may be predisposing factors for schizophrenia.

The association of 22 Y chromosome short tandem repeat loci with initiative-aggressive behavior.

Aggressive behavior represents an important public concern and a clinical challenge to behaviorists and psychiatrists. Aggression in humans is known to have an important genetic basis, so to investigate the association of Y chromosome short tandem repeat (Y-STR) loci with initiative-aggressive behavior, we compared allelic and haplotypic distributions of 22 Y-STRs in a group of Chinese males convicted of premeditated extremely violent crimes (n = 271) with a normal control group (n = 492). Allelic distributions of DYS533 and DYS437 loci differed significantly between the two groups (P < 0.05). The case group had higher frequencies of DYS533 allele 14, DYS437 allele 14, and haplotypes 11-14 of DYS533-DYS437 compared with the control group. Additionally, the DYS437 allele 15 frequency was significantly lower in cases than controls. No frequency differences were observed in the other 20 Y-STR loci between these two groups. Our results indicate a genetic role for Y-STR loci in the development of initiative aggression in non-psychiatric subjects.

Linking Y-chromosomal short tandem repeat loci to human male impulsive aggression.

Introduction: Men are more susceptible to impulsive behavior than women. Epidemiological studies revealed that the impulsive aggressive behavior is affected by genetic factors, and the male-specific Y chromosome plays an important role in this behavior. In this study, we investigated the association between the impulsive aggressive behavior and Y-chromosomal short tandem repeats (Y-STRs) loci. Methods: The collected biologic samples from 271 offenders with impulsive aggressive behavior and 492 healthy individuals without impulsive aggressive behavior were amplified by PowerPlexRY23 PCR System and the resultant products were separated by electrophoresis and further genotyped. Then, comparisons in allele and haplotype frequencies of the selected 22 Y-STRs were made in the two groups. Results: Our results showed that there were significant differences in allele frequencies at DYS448 and DYS456 between offenders and controls (p < .05). Univariate analysis further revealed significant frequency differences for alleles 18 and 22 at DYS448 (0.18 vs 0.27, compared to the controls, p = .003, OR=0.57,95% CI=0.39-0.82; 0.03 vs 0.01, compared to the controls, p = .003, OR=7.45, 95% CI=1.57-35.35, respectively) and for allele 17 at DYS456 (0.07 vs 0.14, compared to the controls, p = .006, OR=0.48, 95% CI =0.28-0.82) between two groups. Interestingly, the frequency of haploid haplotype 22-15 on the DYS448-DYS456 (DYS448-DYS456-22-15) was significantly higher in offenders than in controls (0.033 vs 0.004, compared to the control, p = .001, OR = 8.42, 95%CI =1.81-39.24). Moreover, there were no significant differences in allele frequencies of other Y-STRs loci between two groups. Furthermore, the unconditional logistic regression analysis confirmed that alleles 18 and 22 at DYS448 and allele 17 at DYS456 are associated with male impulsive aggression. However, the DYS448-DYS456-22-15 is less related to impulsive aggression. Conclusion: Our results suggest a link between Y-chromosomal allele types and male impulsive aggression.

[Association of aggressive behaviors of schizophrenia with short tandem repeats loci].

OBJECTIVE: To assess the association of short tandem repeats (STRs) loci with aggressive behaviors of schizophrenia. METHODS: Blood samples from 123 schizophrenic patients with aggressive behaviors and 489 schizophrenic patients without aggressive behaviors were collected. DNA from all samples was amplified with a PowerPlex 21 system and separated by electrophoresis to determine the genotypes and allelic frequencies of 20 STR loci including D3S1368, D1S1656, D6S1043, D13S317, Penta E, D16S639, D18S51, D2S1338, CSF1PO, Penta D, TH01, vWA, D21S11, D7S820, D5S818, TPOX, D8S1179, D12S391, D19S433, and FGA. RESULTS: All of the 20 STR loci have reached Hardy-Weinberg equilibrium in both groups. A significant difference was found in allelic and genotypic frequencies of loci Penta D between the two groups (alleles: P=0.042; genotypes: P=0.014) but not for the remaining 19 loci (P> 0.05). Univariate analysis also showed a significant difference for allele 10 and genotypes 10-12 of Penta D between the two groups (P=0.0027, P=0.0001), with the OR being 1.81 (95%CI: 1.22-2.67) and 4.33 (95%CI: 1.95-9.59), respectively. CONCLUSION: Penta D may be associated with aggressive behaviors of schizophrenia. Allele 10 and genotypes 10-12 of Penta D may confer a risk for the disease.

Polymorphisms of 23 Y-chromosome STR Loci in A Han Population in Jiangsu Province.

Objective To investigate the polymorphisms of 23 Y-STR loci in a Han population in Jiangsu province. Methods Blood samples were collected from 4821 unrelated healthy Han males in Jiangsu province. DNA templates were amplified by PowerPlex Y23 kit,and the amplification products were detected by 3500xL genetic analyzer. Then,we calculated the allele frequencies and gene diversities respectively,as well as the haplotype frequencies and haplotype diversities. Results The gene diversity of these 23 Y-STR loci ranged 0.4099-0.9696. A total of 4781 haplotypes were detected,of which 4743 were found once. The haplotype diversity was 0.99999812. Conclusion The 23 Y-STR loci used in this study are highly polymorphic in Han individuals in Jiangsu province and therefore suitable for population genetic study and forensic individual identification.

Inner and inter population structure construction of Chinese Jiangsu Han population based on Y23 STR system.

In this study, we analyzed the genetic polymorphisms of 23 Y-STR loci from PowerPlex® Y23 system in 916 unrelated healthy male individuals from Chinese Jiangsu Han, and observed 912 different haplotypes including 908 unique haplotypes and 4 duplicate haplotypes. The haplotype diversity reached 0.99999 and the discrimination capacity and match probability were 0.9956 and 0.0011, respectively. The gene diversity values ranged from 0.3942 at DYS438 to 0.9607 at DYS385a/b. Population differentiation within 10 Jiangsu Han subpopulations were evaluated by RST values and visualized in Neighbor-Joining trees and Multi-Dimensional Scaling plots as well as population relationships between the Jiangsu Han population and other 18 Eastern Asian populations. Such results indicated that the 23 Y-STR loci were highly polymorphic in Jiangsu Han population and played crucial roles in forensic application as well as population genetics. For the first time, we reported the genetic diversity of male lineages in Jiangsu Han population at a high-resolution level of 23 Y-STR set and consequently contributed to familial searching, offender tracking, and anthropology analysis of Jiangsu Han population.

[Association of 15 short tandem repeats loci with aggressive behavior].

OBJECTIVE: To assess the association between aggressive behaviors and 15 short tandem repeats (STRs) loci. METHODS: Peripheral blood samples from 541 army men with aggressive behaviors and 459 healthy individuals were collected. All sample were amplified with a AmpFlSTR Identifiler(TM) system and separated by electrophoresis to compare the genotypic and allelic frequencies of 15 STRs (CSF1PO, D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, FGA, THO1, TPOX and vWA) in the two groups. RESULTS: A significant difference was found in allelic and genotypic frequencies at loci D2S1338 and D19S433 (P< 0.01) between the two groups, but not for the remaining 13 STR loci (P> 0.05). Univarite analysis also showed a significant difference for allele 16, genotypes 19-22, 22-24 on D2S1338 and genotypes 13-14.2 on D19S433 between the two groups (P= 0.0018, P= 0.0001, P= 0.0003, P= 0.0000), with the OR values being 7.380 (95%CI: 1.701-32.028), 0.051(95%CI: 0.007-0.388), 13.933(95%CI: 1.845-105.717), 0.349 (95%CI: 0.216-0.564), respectively. CONCLUSION: D2S1338 and D19S433 may be associated with aggressive behavior. Allele 16 and genotype 22-24 on D2S1338 may be susceptible factors for the disease, whilst genotypes 19-22 on D2S1338 and 13-14.2 on D19S433 may confer a protective effect on it.

Case-control study of allele frequencies of 15 short tandem repeat loci in males with impulsive violent behavior.

BACKGROUND: Analysis of genetic polymorphisms in short tandem repeats (STRs) is an accepted method for detecting associations between genotype and phenotype but it has not previously been used in the study of the genetics of impulsive violent behavior. OBJECTIVE: Compare the prevalence of different polymorphisms in 15 STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA) between men with a history of impulsive violence and male control subjects without a history of impulsive violence. METHODS: The distributions of the alleles of the 15 STR loci were compared between 407 cases with impulsive violent behavior and 415 controls using AmpFlSTR(®) Identifiler™ kits. RESULTS: COMPARED TO CONTROLS, THE AVERAGE FREQUENCIES OF THE FOLLOWING ALLELES WERE SIGNIFICANTLY LOWER IN INDIVIDUALS WITH A HISTORY OF VIOLENT BEHAVIOR: allele 10 of TH01 (OR=0.29, 95%CI=0.16-0.52, p<0.0001,), allele 8 of TPOX (OR=0.71, 95%CI=0.58-0.86, p=0.0005), allele 9 of TPOX (OR=0.65, 95%CI=0.47-0.89, p=0.0072) and allele 14 of CSF1PO (OR=0.27, 95%CI=0.11-0.68, p=0.0035). One allele was significantly higher in cases than controls: allele 11 of TPOX (OR=1.79, 95%CI=1.45-2.22, p<0.0001). CONCLUSIONS: To the best of our knowledge, this is the first behavioral genetic study that clearly demonstrates a close relationship between specific genetic markers and impulsive aggression in non-psychiatric offenders. Further prospective work will be needed to determine whether or not the alleles identified can be considered risk factors for impulsive aggression and, if so, the underlying mechanisms that result in this relationship.

[Polymorphism of 17 short tandem repeat Loci of Tibetan minority ethnic group from Lhasa].

OBJECTIVE: To investigate the polymorphism of 17 short tandem repeat (STR) loci of Tibetan minority ethnic group from Lhasa. METHODS: Blood samples were obtained from 132 unrelated Tibetan individuals from Lhasa. DNA templates were screened by home-made AGCU17+1 kit and 3130XL genetic analyzer. Genotyping was performed using GeneMapper software (version 3.2). RESULTS: The allele frequencies of 17 STR loci ranged 0.0038-0.5720, and the power of discrimination ranged 0.779-0.979, the power of exclusion ranged 0.327-0.737, the polymorphism information contents ranged 0.538-0.910, and the heterozygosity ranged 0.629-0.871. The cumulative coupling probability was 3.93 × 10(-20), and the cumulative power of exclusion was 0.9999995234. Of 17 STR loci, Penta E and D6S1043 had the highest polymorphism indicators, while TPOX had the lowest. CONCLUSION: The 17 STR loci used in this study are highly polymorphism in Tibetan minority ethnic group from Lhasa and fit for the population genetic study and forensic cases.

[Comparative research of the influence factors of DNA extraction of bloodstain on the filter paper with Chelex-100 method].

OBJECTIVE: To improve DNA extraction from bloodstain on the filter paper and to establish a rapid, simple, and cost-effective method for DNA extraction suitable for database construction. METHODS: Seven hundred and fifty two aged bloodstains on filter paper were randomly divided into four groups. The four different DNA extraction methods were compared with each other, and two DNA extraction methods used for 63 fresh bloodstains on filter paper were also compared with each other. RESULTS: There were no statistically significant differences observed among the four DNA extraction methods (P > 0.05) for aged bloodstains on filter paper; But the difference between the two DNA extraction methods for fresh bloodstains on filter paper was obviously (P < 0.05). CONCLUSION: Extraction of DNA samples from aged bloodstains on filter paper can be accomplished by using Chlex-100 methodology directly with no need to wash the bloodstains.