Annals of Human Biology最新文献

{"title":"The problem of latent class trajectory analysis in child growth and obesity research.","authors":"William Johnson","doi":"10.1080/03014460.2023.2189750","DOIUrl":"https://doi.org/10.1080/03014460.2023.2189750","url":null,"abstract":"","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"1-3"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9708083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Geolocation prediction from STR genotyping: a pilot study in five geographically distinct global populations.","authors":"Mansi Arora,&nbsp;Hirak Ranjan Dash","doi":"10.1080/03014460.2023.2217382","DOIUrl":"https://doi.org/10.1080/03014460.2023.2217382","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>To assess the usability of STR-based genotypes for the prediction of an individual's geolocation.</p><p><strong>Subjects and methods: </strong>Genotype data from five geographically distinct populations, i.e. Caucasian, Hispanic, Asian, Estonian, and Bahrainian, were collected from the published literature.</p><p><strong>Results: </strong>A significant difference (<i>p</i> < 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.\"</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"274-281"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9753692","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sex-dependent association of DNA methylation in the coding region of the corticotropin-releasing hormone gene and schizophrenia spectrum disorder.","authors":"Lili Qing,&nbsp;Peng Xiong,&nbsp;Yumei Lu,&nbsp;Hongyan Jiang,&nbsp;Shengjie Nie","doi":"10.1080/03014460.2023.2212176","DOIUrl":"https://doi.org/10.1080/03014460.2023.2212176","url":null,"abstract":"<p><strong>Background: </strong>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 (<i>CRH</i>) gene, which is central to the HPA axis, has not been investigated in patients with SSD.</p><p><strong>Aim: </strong>We investigated the methylation status of the coding region of the <i>CRH</i> gene (hereafter, <i>CRH</i> methylation) using peripheral blood samples from patients with SSD.</p><p><strong>Subjects and methods: </strong>We used sodium bisulphite and MethylTarget to determine <i>CRH</i> methylation after collecting peripheral blood samples from 70 patients with SSD who had positive symptoms and 68 healthy controls.</p><p><strong>Results: </strong><i>CRH</i> methylation was significantly increased in patients with SSD, especially in male patients.</p><p><strong>Conclusions: </strong>Differences in <i>CRH</i> methylation were detectable in the peripheral blood of patients with SSD. Epigenetic abnormalities in the <i>CRH</i> gene were closely related to positive symptoms of SSD, suggesting that epigenetic processes may mediate the pathophysiology of SSD.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"1-8"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9753694","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Age at menarche and chemical exposure: per- and polyfluoroalkyl substances (PFAS), dichloro-diphenyl-trichloroethane (DDT), dichloro-diphenyl-dichloroethylene (DDE), and polychlorinated biphenyls (PCBs).","authors":"Lawrence M Schell, Casey N West","doi":"10.1080/03014460.2023.2221039","DOIUrl":"10.1080/03014460.2023.2221039","url":null,"abstract":"<p><strong>Context: </strong>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.</p><p><strong>Objective: </strong>To assess the relationship of suspect toxicants to maturation, specifically to age at menarche.</p><p><strong>Methods: </strong>We conducted two systematic reviews of age at menarche and PFOA, PFOS, PCBs and DDE/DDT based on publications indexed by pubmed.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"282-292"},"PeriodicalIF":1.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10062871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Forensic efficiency evaluation of a novel multiplex panel of InDels and STRs in the Guizhou Han population and its phylogenetic relationships with other reference populations.","authors":"Yanhua Zheng,&nbsp;Ting Wang,&nbsp;Kun He,&nbsp;Yunteng Yang,&nbsp;Jiangtao You,&nbsp;Xiaolan Huang,&nbsp;Hongling Zhang,&nbsp;Zheng Ren,&nbsp;Qiyan Wang,&nbsp;Jiang Huang,&nbsp;Xiaoye Jin","doi":"10.1080/03014460.2023.2168754","DOIUrl":"https://doi.org/10.1080/03014460.2023.2168754","url":null,"abstract":"<p><strong>Background: </strong>Insertion/deletion polymorphism (InDel), as the third genetic marker, has been given a lot of attention by forensic geneticists since it has the advantages of extensive distributions in the human genome, small amplicon, and low mutation rate. However, the extant InDel panels were only viewed as supplemental tools for kinship analyses. In addition, these panels were not conductive to mixture deconvolution because InDels in these panels mainly displayed two alleles.</p><p><strong>Aims: </strong>The purpose of this study is to investigate genetic distributions of a novel panel of InDels and STRs in the Guizhou Han population; assess the forensic application value of the panel; and conduct population genetic analyses of the Guizhou Han and other reference populations based on the overlapping loci.</p><p><strong>Subjects and methods: </strong>The bloodstain samples of 209 Guizhou Han were gathered and genotyped by the novel panel. Allelic frequencies and forensic parameters of two miniSTRs and 59 InDels in the panel were estimated. In addition, we assessed phylogenetic relationships among the Guizhou Han and other reference populations by principal component analysis, <i>D_A</i> genetic distance, and neighbor-joining tree.</p><p><strong>Results: </strong>A total of 139 alleles of 61 loci could be observed in the Guizhou Han population. Polymorphic information content values of 59 InDels were greater than 0.3 in the Guizhou Han population. The cumulative power of discrimination and probability of exclusion of two miniSTRs and 59 InDels in the Guizhou Han population were 0.999999999999999999999999997984 and 0.9999986, respectively. Principal component analysis of 14 populations showed that the Guizhou Han population located closer to Hunan Han and Southern Han Chinese (CHS) populations. Similar results were also discerned from <i>D_A</i> genetic distances and the neighbor-joining tree.</p><p><strong>Conclusion: </strong>To sum up, the novel panel could be employed for forensic personal identification and paternity testing in the Guizhou Han population as a promising independent tool. Besides, the principal component analysis and phylogenetic tree of the Guizhou Han and other compared populations revealed that the Guizhou Han population possesses close genetic affinities with Hunan Han, CHS, and Han Chinese in Beijing (CHB) populations.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"42-47"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10857324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Body fat and muscle in relation to heart rate variability in young-to-middle age men: a cross sectional study.","authors":"Selma Cvijetic,&nbsp;Jelena Macan,&nbsp;Dario Boschiero,&nbsp;Jasminka Z Ilich","doi":"10.1080/03014460.2023.2180089","DOIUrl":"https://doi.org/10.1080/03014460.2023.2180089","url":null,"abstract":"<p><strong>Background: </strong>While obesity is recognisably associated with changes in heart rate variability (HRV), the association between skeletal muscle mass and HRV is less clear.</p><p><strong>Aims: </strong>In this cross sectional study, we analysed the association of body fat (four parameters) and muscle mass (five parameters) with indicators of HRV activity.</p><p><strong>Subjects and methods: </strong>Assessment of body composition and HRV was performed in <i>n</i> = 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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"108-116"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9075335","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does stunting still matter in high-income countries?","authors":"Joseph Freer,&nbsp;Joanna Orr,&nbsp;Robert Walton,&nbsp;Helen L Storr,&nbsp;Leo Dunkel,&nbsp;Andrew J Prendergast","doi":"10.1080/03014460.2023.2216022","DOIUrl":"https://doi.org/10.1080/03014460.2023.2216022","url":null,"abstract":"","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"267-273"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9692875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation and prediction of individual growth trajectories.","authors":"Stef van Buuren","doi":"10.1080/03014460.2023.2190619","DOIUrl":"https://doi.org/10.1080/03014460.2023.2190619","url":null,"abstract":"<p><strong>Background: </strong>Conventional growth charts offer limited guidance to track individual growth.</p><p><strong>Aim: </strong>To explore new approaches to improve the evaluation and prediction of individual growth trajectories.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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 <i>adaptive growth chart</i> featuring two new graphical elements: <i>amplitude</i> (for evaluation) and <i>flag</i> (for prediction). The relevant calculations take about 1 millisecond per child.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"247-257"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9751507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic polymorphism and forensic efficiency of 21 autosomal STR loci from Shandong Han population in Northern China.","authors":"Qi Liu,&nbsp;Yawen Han,&nbsp;Xiudi Hou,&nbsp;Shuquan Zhao,&nbsp;Dan Wang,&nbsp;Shuyue Li,&nbsp;Yequan Wang","doi":"10.1080/03014460.2023.2224057","DOIUrl":"https://doi.org/10.1080/03014460.2023.2224057","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>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.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"341-344"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9868863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic polymorphism of 27 Y-STR loci in Kazakh populations from Eastern Kazakhstan.","authors":"Yeldar Ashirbekov,&nbsp;Anastassiya Nogay,&nbsp;Arman Abaildayev,&nbsp;Aigul Zhunussova,&nbsp;Zhaxylyk Sabitov,&nbsp;Maxat Zhabagin","doi":"10.1080/03014460.2023.2170465","DOIUrl":"https://doi.org/10.1080/03014460.2023.2170465","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>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.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>The obtained haplotypes will help to expand the Kazakhstan Y-chromosome reference database and will be useful for future genetic research and forensic applications.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"48-51"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10862922","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}