Search

Objectives: The aim of this study was to assess the relationship between variant loci significantly associated with sports-related traits in the GWAS Catalog database and sprint/power athlete status, as well as to explore the polygenic profile of elite athletes. Methods: Next-generation sequencing and microarray technology were used to genotype samples from 211 elite athletes who had achieved success in national or international competitions in power-based sports and from 522 non-athletes, who were healthy university students with no history of professional sports training. Variant loci collected from databases were extracted after imputation. Subsequently, 80% of the samples were randomly selected as the training set, and the remaining 20% as the validation set. Results: Association analysis of variant loci was conducted in the training set, and individual Total Genotype Score (TGS) were calculated using genotype dosage and lnOR, followed by the establishment of a logistic model, with predictive performance evaluated in the validation set. Association analysis was performed on 2075 variant loci, and after removing linked loci (r 2 > 0.2), 118 Tag SNPs ( p ≤ 0.05) were identified. A logistic model built using 30 Tag SNPs ( p ≤ 0.01) showed better performance in the validation set (AUC = 0.707). Conclusions: Our study identified 30 new genetic molecular markers and demonstrated that elite sprint/power athlete status is polygenic.

Objectives: The incidence of Helicobacter pylori (HP) is 25-50% in developed countries and 80% in developing countries, including 56.2% in China. However, antibiotic resistance of HP is a threat to HP control. The purpose of this study was to comprehensively evaluate primary drug resistance of HP in China., Methods: The full text of reports of the primary antibiotic resistance prevalence of HP was obtained from multiple databases (PubMed, Web of Science, Evimed, Cochrane Library, and China National Knowledge Internet). Review Manager 5.2 was adopted for meta-analysis, sensitivity analysis, and bias analysis. The Newcastle-Ottawa Scale was used to assess the article quality., Results: In total, 38804 HP samples from 22 trials were extracted. The results suggested that the overall prevalence of amoxicillin, clarithromycin, metronidazole, and levofloxacin resistance among HP in adults was as follows: mean difference (MD) = 1.35%, 95% confidence interval (CI) [1.03%, 1.68%]; MD = 23.76%, 95% CI [20.23%, 27.3%]; MD = 69.32%, 95% CI [64.85%, 73.8%]; and MD = 29.45%, 95% CI [4.90, 176.96], respectively. From the results of sensitivity and publication bias, we find that these results are robust and had little publication bias., Conclusion: Our research showed that in China, the prevalence of HP resistance to primary antibiotics warrants attention, especially with regard to metronidazole, levofloxacin, and clarithromycin., (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Objective: This study aimed to describe the area under the plasma concentration-time curve (AUC) and the relationship with hematological toxicity plus clinical responses of docetaxel in patients with nasopharyngeal carcinoma. Furthermore, a suitable docetaxel exposure level would be identified to guide clinical dosing., Materials and Methods: 96 patients with locally advanced or metastatic nasopharyngeal carcinoma treated with docetaxel-based chemotherapy were enrolled. Docetaxel was measured by turbidimetric immunoassay. Associations between docetaxel exposure and hematologic toxicity, effect, and recurrence time were analyzed. Receiver operating characteristic curve analysis was performed to determine an optimal AUC value to predict the decrease in absolute neutrophil counts., Results: Interpatient variability was large with regard to exposure (AUC) and clearance. The AUC values of 76 patients in course 1 varied more than 4 fold (3.17 ± 0.84 µg×h/mL, ranging from 1.4 to 6.0 µg×h/mL). Clearance was 42.8 L/h (ranging from 20.8 to 73.7 L/h) with ~ 3-fold interindividual variability. The incidence of grade 3/4 leukopenia, 3/4 neutropenia, and febrile neutropenia was 46.3, 85.2, and 13.5%, respectively, in course 1. Docetaxel exposure was the only significant predictor (p < 0.001) of severe toxicity, including grade 4 neutropenia and febrile neutropenia. A cutoff value of 2.85 µg×h/mL was selected as the target AUC. Higher AUC values were not observed to be associated with better drug effect., Conclusion: The dose was calculated based on individual clearance and a target AUC of 2.85 µg×h/mL, helping to adjust the next cycle of doses and solve interpatient variability.

Background: Y-chromosomal short tandem repeats (Y-STRs) have been certified to be the serviceable markers for some paternity cases in the last few years., Methods: We presented the gene diversity, haplotypic diversity, and forensic statistical parameters of 340 unrelated Uighur males from Kashi region based on the 27 Y-STRs. Genomic DNA was extracted from bloodstain samples using the Chelex-100 method and amplified by Yfiler ® Plus PCR Amplification kit., Results: Gene diversity values on the 27 Y-STRs ranged from 0.4749 (at DYS437 locus) to 0.9416 (at DYS385a,b loci). According to forensic parameters of the 27 Y-STR loci, 295 disparate haplotypes were acquired, 258 of which were unique. The haplotypic diversities and discrimination capacities at Yfiler plus 27 loci, Yfiler 17 loci, extended 11 loci, and minimal 9 loci were 0.9990 and 0.8676; 0.9961 and 0.6912; 0.9952 and 0.5941; and 0.9919 and 0.5676, respectively. Multidimensional scaling plot and neighbor-joining tree between the studied Uighur group and 17 reference populations were conducted, and the obtained results indicated the Kashi Uighur group had the closer genetic relationships with Uighur groups living in different regions., Conclusion: To sum up, the present study may provide valuable population data and background information of Kashi Uighur group., (© 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Objectives: To study the genetic polymorphisms of 30 insertion/deletion （InDel） loci and evaluate their forensic application in Ewenki ethnic group from Inner Mongolia., Methods: Peripheral blood samples were collected from 87 unrelated healthy individuals in Ewenki ethnic group. Genomic DNA were extracted, and 30 InDel loci of the samples were multiplex amplified and genotyped. Hardy-Weinberg balance tests were preformed for all loci and genetic parameters were calculated by modified PowerStats v1.2 software. The linkage disequilibrium between loci were tested by SNPAnalyzer v2.0 software. Based on the allele frequencies of 30 InDel loci, the genetic relationships between Ewenki ethnic group and other populations were evaluated by analysis of molecular variance, principal component analysis and phylogenetic reconstruction., Results: After correction, 30 InDel loci conformed to Hardy-Weinberg equilibrium. It was found that the pairwise InDel loci were in linkage equilibrium after Bonferroni correction. The results of population genetics indicated that Ewenki ethnic group had close genetic relationships with Henan Han and Beijing Han populations; whereas it was significantly different from several populations in Europe and Mexico., Conclusions: There are relatively high genetic polymorphisms on 30 InDel loci of Ewenki ethnic group from Inner Mongolia, which can be used as a helpful supplement application for STR detection system., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Forensic Medicine)

We analyzed the genetic polymorphisms of 54 mitochondrial DNA (mtDNA) variants in Chinese Xibe ethnic minority group. A total of 137 unrelated healthy volunteers from Chinese Xibe group were the objects of our study. Among the selected loci, there were 51 variable positions including transitions and transversions, and single nucleotide transitions were common (83.93%) versus transversions. These variations defined 64 different mtDNA haplotypes exclusive of (CA) n and 9 bp deletion variation. The haplotype diversity and discrimination power in Xibe population were 0.9800 ± 0.004 and 0.9699, respectively. Besides, we compared Xibe group with 18 other populations and reconstructed a phylogenetic tree using Neighbor-Joining method. The result revealed that Xibe group was a close to Xinjiang Han and Yanbian Korean groups. Our data also indicated that Xibe group has a close relationship with Daur and Ewenki groups, which is reflected by the history that Xibe was influenced by Daur and Ewenki groups during the development of these groups. In conclusion, the variants we studied are polymorphic and could be used as informative genetic markers for forensic and population genetic application.

X-chromosomal short tandem repeats (X-STRs) have been widely used in forensic practices involving complicated ties of kinship over the past years, and also play an increasingly important role in population genetics. To study the genetic polymorphisms of 19 STR loci on X chromosome in Chinese Kazak ethnic group, we investigated the allelic and haplotypic frequencies of the 19 loci in 300 (149 males and 151 females) unrelated healthy individuals from Ili Kazak Autonomous Prefecture, Xinjiang Uigur Autonomous Region of China after having evaluated the forensic application value of these loci in forensic sciences, and then compared the population distinctions between the Kazak group and other reference groups. We observed a total of 240 alleles at these X-STR loci with the corresponding allelic frequencies ranging from 0.0017 to 0.5917. In the study, the highest polymorphism was found at DXS10135 locus. The combined power of discrimination in females was 0.999999999999999999999985 and in males 0.999999999999968. The present study indicates that the 19 X-STR loci are very useful for both forensic identification cases and kinship analyses involving a female offspring., (Copyright © 2016 Elsevier B.V. All rights reserved.)

The Kazak ethnic minority is a large ethnic group in the Xinjiang Uygur Autonomous Region of China and is valuable resource for the study of ethnogeny. In the present study, 24 Y-chromosomal short tandem repeat (Y-STR) loci were analyzed in 201 unrelated Kazak male individuals from Ili Kazak Autonomous Prefecture, Xinjiang, China. The gene diversity of the 24 Y-STR loci in the studied Kazak group ranged from 0.0050 to 0.9104. According to haplotypic analysis of the 24 Y-STR loci, 113 different haplotypes were obtained, 96 of which were unique. The haplotype diversity and discrimination capacity in Kazak group were 0.9578 and 0.5622 at 24 STR loci, respectively. The haplotype diversity and discrimination capacity at Y-filer 17 loci, extended 11 loci, and minimal 9 loci were reduced to 0.9274 and 0.4279, 0.8459 and 0.3284, and 0.8354 and 0.2985, respectively, which could indicate that the more loci were detected, the higher forensic efficacy was obtained. We evaluated the application value of the 24 loci in forensic sciences and analyzed interpopulation differentiations by making comparisons between the Kazak1 (represent our samples from Ili Kazak Autonomous Prefecture) group and other 14 groups. The results of pairwise genetic distances, multidimensional scaling plot, and neighbor-joining tree at the same set of 17 Y-filer loci indicated that the Kazak1 group had the closer genetic relationships with Kazak2 (represent samples from the whole territory of Xinjiang Uygur Autonomous Region), Mongolian, and Uygur ethnic groups. The present results may provide useful information for paternal lineages in forensic cases and can also increase our understanding of the genetic relationships between Kazak1 and other groups.

The population genetic data and forensic parameters of 19 X-chromosome short tandem repeat (X-STR) loci in Chinese Uygur ethnic minority are presented. These loci were detected in a sample of 233 (94 males and 139 females) unrelated healthy individuals. We observed 238 alleles at the 19 X-STR loci, with the corresponding gene frequencies spanning the range from 0.0021 to 0.5644. After Bonferroni correction (P>0.0026), there were no significant deviations from Hardy-Weinberg equilibrium. The cumulative power of discrimination in females and males, and the probability of exclusion of the 19 X-STR loci were 0.999 999 999 999 999 999 998 091, 0.999 999 999 999 966, and 0.999 999 986 35, respectively. The cumulative mean exclusion chance was 0.999 999 992 849 in deficiency cases, 0.999 999 999 999 628 in normal trios, and 0.999 999 998 722 in duo cases. The high value of the forensic parameters mentioned above revealed that the novel panel of 19 loci had important values for forensic applications in the Uygur group.