Annals of Human Biology最新文献

{"title":"Development of an Okinawa panel for biogeographic inference of Okinawans.","authors":"Hiroaki Nakanishi,&nbsp;Vania Pereira,&nbsp;Claus Børsting,&nbsp;Torben Tvedebrink,&nbsp;Aya Takada,&nbsp;Kazuyuki Saito","doi":"10.1080/03014460.2023.2257594","DOIUrl":"10.1080/03014460.2023.2257594","url":null,"abstract":"<p><strong>Background: </strong>The Precision ID Ancestry Panel with 165 SNP markers was unable to differentiate between mainland Japanese and Okinawa Japanese or to distinguish either of them from other East Asian populations.</p><p><strong>Aim: </strong>An Okinawa panel was developed with the aim of further separating Okinawa Japanese individuals from mainland Japanese and other Asian groups. Seventy-five SNPs were selected using the most informative markers from the literature. Further, 22 SNPs were selected to separate Okinawa Japanese at minimum SNPs.</p><p><strong>Subjects and methods: </strong>Samples were collected from 48 unrelated individuals from mainland Japan and 46 unrelated residents of the Okinawa prefecture. Data were evaluated by STRUCTURE, principal component, and GenoGeographer analyses.</p><p><strong>Results: </strong>The 22 SNP set had similar levels of differentiation in STRUCTURE and PCA analyses as the 75 SNP set. GenoGeographer analysis showed that, out of the 46 Okinawa Japanese individuals, the 75 SNP and 22 SNP sets correctly assigned the Okinawan population as the most likely population of origin for 32 and 31 individuals, respectively.</p><p><strong>Conclusion: </strong>Neither SNP set could completely differentiate between Okinawa Japanese and other Asian groups, however, these sets should be useful for crime investigation, when the sample, cost and time are limited.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"436-441"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41162520","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":"The growth status of North Korean refugee adolescents in South Korea: comparison with South Korean adolescents.","authors":"So-Yeong Kim,&nbsp;Hye-Min Ku,&nbsp;Seong-Woo Choi","doi":"10.1080/03014460.2023.2183988","DOIUrl":"https://doi.org/10.1080/03014460.2023.2183988","url":null,"abstract":"<p><strong>Aim: </strong>To assess the growth status of North Korean refugee adolescents (NKRA) living in South Korea (SK) and compare their growth status with that of SK adolescents (SKA).</p><p><strong>Subjects and methods: </strong>NKRA were interviewed from 2017 to 2020, whereas the data for SKA were from the 2016 to 2018 Korea National Health and Nutrition Examination Surveys. SKA and NKRA were matched by age and gender in a 3:1 ratio and 534 SKA and 185 NKRA were enrolled.</p><p><strong>Results: </strong>After adjusting for the covariates, NKRA had greater prevalences of thinness (odds ratio [OR], 11.5; 95% confidence interval [CI], 2.9-45.6) and obesity (OR, 12.0; 95% CI, 3.1-46.1) than SKA, but were not of short stature. In comparison with SKA in low-income families, NKRA had similarly greater prevalences of thinness and obesity, but not of short stature. As the length of stay of NKRA in SK increased, the prevalence of short stature and thinness did not decrease, while the prevalence of obesity increased significantly.</p><p><strong>Conclusion: </strong>Although they had lived in SK for several years, NKRA had greater prevalences of thinness and obesity than SKA and the prevalence of obesity increased significantly with the length of stay in SK.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"148-151"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9346569","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":"The genetic structure and admixture of Manchus and Koreans in northeast China.","authors":"Na Sun,&nbsp;Le Tao,&nbsp;Rui Wang,&nbsp;Kongyang Zhu,&nbsp;Xiangjun Hai,&nbsp;Chuan-Chao Wang","doi":"10.1080/03014460.2023.2182912","DOIUrl":"https://doi.org/10.1080/03014460.2023.2182912","url":null,"abstract":"<p><strong>Background: </strong>The fine-scale genetic profiles and population history of Manchus and Koreans remain unclear.</p><p><strong>Aim: </strong>To infer a fine-scale genetic structure and admixture of Manchu and Korean populations.</p><p><strong>Subjects and methods: </strong>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, <i>f</i>-statistics, <i>qpWave</i>, and <i>qpAdm</i>.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"161-171"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9537427","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":"A simple anthropometric estimation formula for healthy female labourers' leg volume.","authors":"Hsin-Hung Tu","doi":"10.1080/03014460.2023.2168058","DOIUrl":"https://doi.org/10.1080/03014460.2023.2168058","url":null,"abstract":"<p><strong>Background: </strong>Leg volume (LV) is an important reference in nutrition, physiology in exercise, or clinical diagnosis. Therefore, how to evaluate LV easily and quickly with accuracy is important in these areas.</p><p><strong>Aim: </strong>To develop a simple anthropometric estimation formula with ease of use and good accuracy for leg volume (LV) of female labourers.</p><p><strong>Subjects: </strong>One hundred and thirty female labourers (110 subjects for formula regression procedure and 20 subjects for the comparison phase) were recruited as subjects with no reported leg surgery history, trauma, or deformity.</p><p><strong>Methods: </strong>A set of 3 D scanners was used to measure the range data of each subject's leg.</p><p><strong>Results: </strong>The resultant LV estimation formula is LV = 0.215 × LL × CTH^1.620 with <i>R</i>² = 0.967, in which LL stands for leg length and CTH for circumference of thigh. Mean error of this LV estimation is 0.10% and much smaller than that of the previous study (25.11% with significant difference).</p><p><strong>Conclusion: </strong>An anthropometric estimation formula for female labourers' leg volume was developed in this study. Estimation mean error of this formula is much smaller than the one in the previous study. This formula is easy to use and shows good accuracy in estimating female labourers' leg volume.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"152-160"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9825612","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":"Phylogenetic analyses of 41 Y-STRs and machine learning-based haplogroup prediction in the Qingdao Han population from Shandong province, Eastern China.","authors":"Guang-Yao Fan,&nbsp;De-Zhi Jiang,&nbsp;Yao-Heng Jiang,&nbsp;Wei Song,&nbsp;Ying-Yun He,&nbsp;Nixon Austin Wuo","doi":"10.1080/03014460.2023.2168057","DOIUrl":"https://doi.org/10.1080/03014460.2023.2168057","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>This investigation intends to provide light on Qingdao's paternal genetic diversity and its evolutionary connections to other Han subgroups.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>This study would be helpful for reconstructing the patrilineal history in China and establishing a more comprehensive Y-STR database.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"35-41"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9108404","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":"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}