Annals of Human Biology最新文献

Background: The fine-scale genetic profiles and population history of Manchus and Koreans remain unclear.

Aim: To infer a fine-scale genetic structure and admixture of Manchu and Korean populations.

Subjects and methods: We collected and genotyped 16 Manchus from Liaoning and 18 Koreans from Jilin province with about 700K genome-wide SNPs. We analysed the data using principal component analysis (PCA), ADMIXTURE, Fst, TreeMix, f-statistics, qpWave, and qpAdm.

Results: Manchus and Koreans showed a genetic affinity with northern East Asians. Chinese Koreans showed a long-term genetic continuity with Bronze Age populations from the West Liao River and had a strong affinity with Koreans in South Korea and Japan. Manchus had a different genetic profile compared with other Tungusic populations since the Manchus received additional genetic influence from the southern Chinese but didn't have West Eurasian-related admixture.

Conclusions: The genetic formation of Manchus involving southern Chinese was consistent with the extensive interactions between Manchus and populations from central and southern China. The large-scale genetic continuity between ancient West Liao River farmers and Koreans highlighted the role farming expansion played in the peopling of the Korean Peninsula.

Background: Known for its rich history and culture, Qingdao is a typical symbol of Chinese maritime culture. Its unique genetic landscape has aroused interest among geneticists and forensic scientists. However, the genetic landscape of Qingdao has never been uncovered.

Aim: This investigation intends to provide light on Qingdao's paternal genetic diversity and its evolutionary connections to other Han subgroups.

Subjects and methods: The genetic polymorphisms of 41 Y-chromosomal short tandem repeat (STR) loci in the Qingdao Han were investigated using SureID^® PathFinder Plus Kit. Phylogenetic studies were performed using genotype data from 52 East Asian groups at 23 common Y-STR loci. A multidimensional scaling plot and cladogram were constructed. Linear Discriminant Analysis (LDA) was carried out for predicting categories among the Han people. The k-nearest neighbour (kNN) algorithm was utilised to designate Y-SNP haplogroups for each haplotype.

Results: The Qingdao Han were genetically far from the Tibeto-Burman populations and close with the Han people from northern China. LDA indicated a deep integration among the present-day Han people. By the kNN model, the predicted O2a2 and O2a1 were shown to be the predominant Y-SNP haplogroups.

Conclusions: This study would be helpful for reconstructing the patrilineal history in China and establishing a more comprehensive Y-STR database.

Background: Traditional CE-based STR profiles are highly useful for the purpose of individualisation. However, they do not give any additional information without the presence of the reference sample for comparison.

Aim: To assess the usability of STR-based genotypes for the prediction of an individual's geolocation.

Subjects and methods: Genotype data from five geographically distinct populations, i.e. Caucasian, Hispanic, Asian, Estonian, and Bahrainian, were collected from the published literature.

Results: A significant difference (p < 0.05) in the observed genotypes was found between these populations. D1S1656 and SE33 showed substantial differences in their genotype frequencies across the tested populations. SE33, D12S391, D21S11, D19S433, D18S51, and D1S1656 were found to have the highest occurrence of "unique genotype's" in different populations. In addition, D12S391 and D13S317 exhibited distinct population-specific "most frequent genotypes."

Conclusions: Three different prediction models have been proposed for genotype to geolocation prediction, i.e. (i) use of unique genotypes of a population, (ii) use of the most frequent genotype, and (iii) a combinatorial approach of unique and most frequent genotypes. These models could aid the investigating agencies in cases where no reference sample is available for comparison of the profile.

Background: Schizophrenia spectrum disorder (SSD) is a common mental disorder causing severe and chronic disability. Epigenetic changes in genes related to the hypothalamic-pituitary-adrenal (HPA) axis are believed to play an important role in SSD pathogenesis. The methylation status of the corticotropin-releasing hormone (CRH) gene, which is central to the HPA axis, has not been investigated in patients with SSD.

Aim: We investigated the methylation status of the coding region of the CRH gene (hereafter, CRH methylation) using peripheral blood samples from patients with SSD.

Subjects and methods: We used sodium bisulphite and MethylTarget to determine CRH methylation after collecting peripheral blood samples from 70 patients with SSD who had positive symptoms and 68 healthy controls.

Results: CRH methylation was significantly increased in patients with SSD, especially in male patients.

Conclusions: Differences in CRH methylation were detectable in the peripheral blood of patients with SSD. Epigenetic abnormalities in the CRH gene were closely related to positive symptoms of SSD, suggesting that epigenetic processes may mediate the pathophysiology of SSD.

Context: Humans are now exposed to a multitude of chemicals throughout the life course, some of which may affect growth and development owing to their endocrine-like activity.

Objective: To assess the relationship of suspect toxicants to maturation, specifically to age at menarche.

Methods: We conducted two systematic reviews of age at menarche and PFOA, PFOS, PCBs and DDE/DDT based on publications indexed by pubmed.

Results: 16 unique reports were identified. Most studies of PFOA and PFOS reported either no association or delays in the age at menarche; only one reported an earlier age. Studies of DDT and DDE were more mixed. Reports on PCBs varied by PCB congener group with an equal number of them reporting delays and no association but one an acceleration. Sources of variation in results include the timing of exposure assessment (prenatal vs. postnatal), level of the toxicant, and sample size. No obvious pattern to the variation in results could be tied to those sources of variation.

Conclusion: The absence of consistent evidence from multiple reports of earlier age at menarche suggests that these toxicants may not be responsible for accelerated sexual maturation in girls. However, human populations naturally vary in the variety and levels of exposure, making the comparison of studies difficult. Further, studies vary in methodology, complicating aggregation of results and generalisations.

Background: While obesity is recognisably associated with changes in heart rate variability (HRV), the association between skeletal muscle mass and HRV is less clear.

Aims: In this cross sectional study, we analysed the association of body fat (four parameters) and muscle mass (five parameters) with indicators of HRV activity.

Subjects and methods: Assessment of body composition and HRV was performed in n = 180 young-to-middle age healthy men exposed to high occupational physical activity, using the multi-frequency bioelectrical impedance device and the PPG-StressFlow® HRV photoplethysmography device, respectively.

Results: Mean values of parameters of fat tissue were above normal/reference values. Muscle tissue indicators were higher or within the reference ranges. Fat tissue parameters were significantly higher in participants with lower parasympathetic nervous system (PNS) indicators. Weight-adjusted skeletal muscle index (wSMI) was significantly lower in men with reduced PNS parameters. Fat tissue parameters were negatively correlated with PNS parameters, while wSMI was positively correlated with PNS parameters.

Conclusions: Participants with higher fat mass and lower muscle mass had poorer parasympathetic activity. Since mean values of HRV parameters indicated mild parasympathetic dominance, we conclude that physical activity and consequently good muscle mass potentially compensated for the negative interaction between fat tissue and HRV.

Background: Highly polymorphic autosomal STR loci are useful for understanding population structure better and for forensic application, however the non-CODIS STR loci in the Han population of Shandong, located in Northern China, are not well-characterised.

Aim: To investigate population genetic polymorphism and forensic efficiency of 21 autosomal STR loci from the Shandong Han population in Northern China and reveal the genetic relationships with other populations both at home and abroad.

Subjects and methods: In this study, population genetic data of 21 autosomal STR loci included in the Goldeneye DNA ID 22NC Kit that includes four CODIS loci and 17 non-CODIS loci were determined for 523 unrelated Han individuals in Shandong.

Results: Significant deviations from Hardy-Weinberg equilibrium were not observed. A total of 233 alleles were detected with allele frequencies ranging from 0.0010 to 0.3728. The combined power of discrimination was 0.99999999999999999999999990011134, and the combined power of exclusion was 0.99999999788131. Furthermore, in an analysis of population differentiation Nei's standard genetic distance and multidimensional scaling analysis, which were conducted based on the overlapping 15 STR loci, revealed that the Shandong Han population was most closely related to populations in close geographic proximity.

Conclusions: This study demonstrated that the 21 autosomal STR loci included in the Goldeneye^TM DNA ID 22NC system are highly polymorphic and suitable for forensic identification and paternity testing in the Shandong Han population. Additionally, the present results enrich the population genetic database.

Background: Conventional growth charts offer limited guidance to track individual growth.

Aim: To explore new approaches to improve the evaluation and prediction of individual growth trajectories.

Subjects and methods: We generalise the conditional SDS gain to multiple historical measurements, using the Cole correlation model to find correlations at exact ages, the sweep operator to find regression weights and a specified longitudinal reference. We explain the various steps of the methodology and validate and demonstrate the method using empirical data from the SMOCC study with 1985 children measured during ten visits at ages 0-2 years.

Results: The method performs according to statistical theory. We apply the method to estimate the referral rates for a given screening policy. We visualise the child's trajectory as an adaptive growth chart featuring two new graphical elements: amplitude (for evaluation) and flag (for prediction). The relevant calculations take about 1 millisecond per child.

Conclusion: Longitudinal references capture the dynamic nature of child growth. The adaptive growth chart for individual monitoring works with exact ages, corrects for regression to the mean, has a known distribution at any pair of ages and is fast. We recommend the method for evaluating and predicting individual child growth.

Background: The establishment of a national haplotype database is important for forensic and genetic applications and requires studying genetic polymorphisms at Y-STR sites. However, the genetic structure of the Eastern Kazakhstan population is poorly characterised.

Aim: To investigate the genetic polymorphisms of 27 Y-STR loci in the Kazakh population from Eastern Kazakhstan and analyse the population genetic relationships of the Eastern Kazakhs with other populations.

Subjects and methods: The Yfiler Plus kit was utilised to genotype 246 healthy, unrelated males from Eastern Kazakhstan. Based on the raw data, haplotype and allele frequencies along with forensic parameters were calculated, and an MDS plot was constructed.

Results: A total of 207 haplotypes were detected, of which 186 were unique. The haplotype diversity and discrimination capacity were 0.997 and 0.841, respectively. Population comparisons showed that Eastern Kazakhs have close genetic relationships with Kazakhs from Xinjiang, China. At the same time, a difference was found between the studied population and the previous one in the same part of Kazakhstan.

Conclusions: The obtained haplotypes will help to expand the Kazakhstan Y-chromosome reference database and will be useful for future genetic research and forensic applications.