{"title":"Genetic diversity of 23 STR loci of the Guizhou Tujia ethnic minority and the phylogenetic relationships with 22 other populations.","authors":"Shuhua Li, Siyu Chai, Limei Yu, Tao Zhang, Zulin Liu, Yinlei Lei, Kaiqin Chen, Hao Zhang, YanFei Liu, Pengyu Chen","doi":"10.1080/03014460.2023.2224971","DOIUrl":"https://doi.org/10.1080/03014460.2023.2224971","url":null,"abstract":"<p><strong>Background: </strong>Short tandem repeats (STR) are highly polymorphic DNA markers utilised in forensic personal identification and human population genetic research. Guizhou Tujia is one of the ancient minority groups in southwest China, however, the population has not been studied using the highly discriminating 23 STR Huaxia Platinum Kit.</p><p><strong>Aim: </strong>To obtain genetic data from 23 autosomal STRs in Guizhou Tujia and examine the population's relationship with others.</p><p><strong>Subjects and methods: </strong>A total of 480 individuals from the Guizhou Tujia population were analysed using 23 STR loci of Huaxia Platinum Kit. Allele frequencies and forensic parameters were estimated. Population genetic relationships were calculated by Nei's genetic distances and visualised using a variety of biostatistical methods.</p><p><strong>Results: </strong>A total of 264 alleles were found, with allelic frequencies ranging from 0.0010 to 0.5104. The combined discrimination power (CDP) and the combined probability of paternity (CPE) of 23 STR loci were 0.9999999999999999999999999996 and 0.999999999710422, respectively. Guizhou Tujia showed closer genetic relationships with Hubei Tujia, Guizhou Gelao, and Guizhou Miao than with other populations.</p><p><strong>Conclusion: </strong>We first obtained the population genetic data of Guizhou Tujia using the 23 STR system and demonstrated its value in forensic applications. Comprehensive population comparisons showed an evident genetic affinity pattern between populations that are geographically, ethnically and linguistically related.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9816800","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":"Diversity in matrilineages among the Jomon individuals of Japan.","authors":"Fuzuki Mizuno, Yasuhiro Taniguchi, Osamu Kondo, Michiko Hayashi, Kunihiko Kurosaki, Shintaroh Ueda","doi":"10.1080/03014460.2023.2224060","DOIUrl":"https://doi.org/10.1080/03014460.2023.2224060","url":null,"abstract":"<p><strong>Background: </strong>The Jomon period of Japan is characterised by a unique combination of sedentary and hunting/gathering lifestyles, spanning for more than 10,000 years from the final Pleistocene to the Holocene. The transition from the preceding Palaeolithic period to the Jomon period is known to have begun with the appearance of pottery usage. However, knowledge of the genetic background of the Jomon people is still limited.</p><p><strong>Aim: </strong>We aimed to determine the population-scale complete mitogenome sequences of the Initial Jomon human remains and compare the occurrence of mitochondrial haplogroups in the Jomon period from temporal and regional perspectives.</p><p><strong>Subjects and methods: </strong>For human remains dated to 8200-8600 cal BP, we determined their complete mitogenome sequences using target enrichment-coupled next-generation sequencing.</p><p><strong>Results: </strong>We successfully obtained the complete mitogenome sequences with high depth of coverage and high concordance on consensus sequences. These sequences differed by more than three bases each, except for two individuals having completely identical sequences. Co-existence of individuals with haplogroups N9b and M7a was first observed at the same archaeological site from the Initial Jomon period.</p><p><strong>Conclusion: </strong>The genetic diversity within the population was not found to be low even in the Initial Jomon period.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9816805","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}
Annals of Human BiologyPub Date : 2023-02-01Epub Date: 2023-10-09DOI: 10.1080/03014460.2023.2261849
A B Leece, J M Martin, S Baker, C Wilson, D S Strait, G T Schwartz, A I R Herries
{"title":"New hominin dental remains from the ∼2.04-1.95 Ma Drimolen Main Quarry, South Africa.","authors":"A B Leece, J M Martin, S Baker, C Wilson, D S Strait, G T Schwartz, A I R Herries","doi":"10.1080/03014460.2023.2261849","DOIUrl":"10.1080/03014460.2023.2261849","url":null,"abstract":"<p><strong>Background: </strong>The Drimolen Palaeocave site is situated within the UNESCO Fossil Hominid Sites of South Africa World Heritage Area and has yielded numerous hominin fossils since its discovery in 1992. Most of these fossils are represented by isolated dental elements, which have been attributed to either of two distinct hominin genera, <i>Paranthropus</i> and <i>Homo.</i></p><p><strong>Aim: </strong>This paper provides morphological descriptions for a further 19 specimens that have been recovered from the ∼2.04-1.95 Ma Drimolen Main Quarry (DMQ) deposits since 2008. This paper also discusses the two primary hypotheses used to explain <i>Paranthropus robustus</i> variation: sexual dimorphism, and micro-evolution within a lineage.</p><p><strong>Subjects and methods: </strong>These 19 fossils are represented by 47 dental elements and expand the sample of DMQ early <i>Homo</i> from 13 to 15, and the sample of <i>Paranthropus robustus</i> from 69 to 84.</p><p><strong>Results: </strong>The evidence presented in this paper was found to be inconsistent with the sexual dimorphism hypothesis.</p><p><strong>Conclusion: </strong>Some support was found for the micro-evolution hypothesis.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41163011","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":"Polymorphisms in <i>PI3K/AKT</i> genes and gene‑smoking interaction are associated with susceptibility to tuberculosis.","authors":"Chunli Wu, Huixia Liu, Ying Lin, Rongjing An, Mian Wang, Hua Zhong, Hengzhong Yi, Qiaozhi Wang, Hongzhuan Tan, Lizhang Chen, Jing Deng, Mengshi Chen","doi":"10.1080/03014460.2023.2288008","DOIUrl":"10.1080/03014460.2023.2288008","url":null,"abstract":"<p><strong>Background: </strong>Phosphatidylinositol 3-kinase (PI3K) and protein kinase B (AKT) are involved in the clearance of <i>Mycobacterium tuberculosis</i> (MTB) by macrophages.</p><p><strong>Aim: </strong>This study aimed to investigate the effects of polymorphisms in the <i>PI3K/AKT</i> genes and the gene-smoking interaction on susceptibility to TB.</p><p><strong>Methods: </strong>This case-control study used stratified sampling to randomly select 503 TB patients and 494 control subjects. Logistic regression analysis was used to determine the association between the polymorphisms and TB. Simultaneously, the marginal structure linear dominance model was used to estimate the gene-smoking interaction.</p><p><strong>Results: </strong>Genotypes GA (OR 1.562), AA (OR 2.282), and GA + AA (OR 1.650) at rs3730089 of the <i>PI3KR1</i> gene were significantly associated with the risk to develop TB. Genotypes AG (OR 1.460), GG (OR 2.785), and AG + GG (OR 1.622) at rs1130233 of the <i>AKT1</i> gene were significantly associated with the risk to develop TB. In addition, the relative excess risk of interaction (RERI) between rs3730089 and smoking was 0.9608 (95% CI: 0.5959, 1.3256, <i>p</i> < 0.05), which suggests a positive interaction.</p><p><strong>Conclusion: </strong>We conclude that rs3730089 and rs1130233 are associated with susceptibility to TB, and there was positive interaction between rs3730089 and smoking on susceptibility to TB.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138813083","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 variants of <i>FGFR</i> family associated with height, hypertension, and osteoporosis.","authors":"Hye-Won Cho, Hyun-Seok Jin, Yong-Bin Eom","doi":"10.1080/03014460.2023.2187457","DOIUrl":"https://doi.org/10.1080/03014460.2023.2187457","url":null,"abstract":"<p><strong>Background: </strong>Hypertension and osteoporosis are the most common types of health problems. A recent study suggested that the fibroblast growth factor receptor-like protein 1 (<i>FGFRL1</i>) gene in giraffes is the most promising candidate gene that may have direct effects on both the skeleton and the cardiovascular system.</p><p><strong>Aim: </strong>Our study purposed to replicate the finding that the <i>FGFR5</i> gene is related to giraffe-related characteristics (height, hypertension, and osteoporosis), and to assess the associations between genetic variants of the <i>FGFR</i> family and three phenotypes.</p><p><strong>Subjects and methods: </strong>An association study was performed to confirm the connections between hypertension, osteoporosis, and height and the <i>FGFR</i> family proteins (<i>FGFR1</i> to <i>FGFR5</i>).</p><p><strong>Results: </strong>We identified a total of 192 genetic variants in the <i>FGFR</i> family and found six SNVs in the <i>FGFR2</i>, <i>FGFR3</i>, and <i>FGFR4</i> genes that were associated with two phenotypes simultaneously. Also, the <i>FGFR</i> family was found to be involved in calcium signalling, and three genetic variants of the <i>FGFR3</i> gene showed significant signals in the pituitary and hypothalamus.</p><p><strong>Conclusion: </strong>Taken together, these findings suggest that <i>FGFR</i> genes are associated with hypertension, height, and osteoporosis. In particular, the present study highlights the <i>FGFR3</i> gene, which influences two fundamental regulators of bone remodelling.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10048509","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}
L Polcerová, R L Jantz, M Králík, M Chovancová, M Čuta
{"title":"Sex differences in radioulnar contrasts of the finger ridge counts across 21 human population samples.","authors":"L Polcerová, R L Jantz, M Králík, M Chovancová, M Čuta","doi":"10.1080/03014460.2023.2247970","DOIUrl":"https://doi.org/10.1080/03014460.2023.2247970","url":null,"abstract":"Aim: The aim of the present study was to demonstrate the existence of uniform sexual dimorphism in some radioulnar contrasts between different finger ridge counts within the same hand in a large set of populations, thus confirming the universal nature of this dimorphism in humans.Subjects and methods: We analysed individual finger ridge counts (10 values on each hand) of both hands from archival sources (mainly the Brehme-Jantz database). In total, these included 4412 adults from 21 population samples covering all permanently inhabited continents and encompassing very different and geographically distant human populations. We calculated the contrasts (differences) of all pairs of ridge counts (45 per hand) and used diverse methods to assess the direction and degree of dimorphism of them across all population samples.Results: The highest sexual dimorphism was observed for nine contrasts involving the ridge count of the dermatoglyphic pattern on the radial side of the second finger of the right hand (R2r). Among these contrasts, we then found four that had the same direction of dimorphism in all 21 populations. The most dimorphic was the contrast R1rR2r - the difference between the ridge count of the radial side of the thumb and the radial side of the index finger.Discussion: Thus, these dermatoglyphic traits can be further investigated as potential markers of prenatal sex differentiation from ca. 10th week of intrauterine development. However, it will be useful to address the detailed factors and mechanisms for differences in the degree of dimorphism of these traits in different populations.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10185437","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}
Thomas Waldhör, Sylvia Kirchengast, Alfred Juan, Lin Yang
{"title":"Lower educational level remains associated with lower body height among Austrian conscripts born from 1961 through 2002.","authors":"Thomas Waldhör, Sylvia Kirchengast, Alfred Juan, Lin Yang","doi":"10.1080/03014460.2023.2216472","DOIUrl":"https://doi.org/10.1080/03014460.2023.2216472","url":null,"abstract":"<p><p>Growth patterns and final body height are influenced by genetic and socio-environmental factors. A major impact of education on growth has been documented. Body height increases with an increasing educational level.The present study focuses on the association patterns between body height and educational level among 1,734,569 Austrian male conscripts aged 17 to <19 born between 1961 and 2002. Four levels of education were classified to examine their association with body height. Over 42 years, the percentage of conscripts at the lowest educational level decreased dramatically from 37.5% to 1.7%. All educational classes showed increasing body heights over time. Despite a marked improvement in the living standard, body heights at different educational levels did not converge. In Austria, educational and social advancement was associated with higher population body heights. Young men at the lowest educational level, however, remain shorter and their body height gap to the highest educational level has widened.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9610206","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":"Genomic diversity and differentiation of <i>Alu</i> insertion polymorphisms in a native British and four South Asian migrant populations.","authors":"Rebekah Beaumont, Liz Akam, Puneetpal Singh, Jasvinder Singh Bhatti, Sarabjit Mastana","doi":"10.1080/03014460.2023.2180091","DOIUrl":"https://doi.org/10.1080/03014460.2023.2180091","url":null,"abstract":"<p><strong>Background: </strong><i>Alu</i> insertions are bi-allelic and primate-specific, this makes them a useful marker for studying genetic variation, migration patterns, forensic analyses, paternity, and evolutionary heritage; however, specific population studies are limited.</p><p><strong>Aim: </strong>The objective of this study is to document the level and extent of genetic variation at 39 different <i>Alu</i> loci in five populations (British, Indian Punjabi, Indian Gujarati, Pakistani, and Bangladeshi) from the East Midlands region of the UK. Genetic data on migrant populations is currently limited.</p><p><strong>Subjects and methods: </strong>DNA samples (<i>n</i> = 543) were analysed for 39 <i>Alu</i> insertion polymorphisms using specific primers and standard protocols. Data were analysed for population and forensic genetic parameters.</p><p><strong>Results: </strong>All studied <i>Alu</i>s were polymorphic in the British White population while South Asian migrant populations had a variable number of loci which were monomorphic. Highest heterozygosities and lowest match probabilities were observed in the British sample, while the Bangladeshi sample had the lowest heterozygosity and higher match probability.</p><p><strong>Conclusion: </strong>The analysed <i>Alu</i>s insertions (TPA25, Ya5NBC123, Ya5NBC182, Ya5NBC241, and Ya5NBC242) are highly polymorphic and variable among migrant populations. These loci could be useful for population genomic and differentiation studies.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9114522","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":"Child growth and armed conflict.","authors":"Noël Cameron","doi":"10.1080/03014460.2023.2224059","DOIUrl":"https://doi.org/10.1080/03014460.2023.2224059","url":null,"abstract":"<p><strong>Background: </strong>During armed conflict, the non-combative population, and particularly children, are susceptible to the effects of conflict from a variety of perspectives; psychological stress, loss of food and resources, loss of accommodation, occupation, income, death of family members, etc. The Lancet recently published a special issue entitled 'Maternal and child health and armed conflict' concluding that the ways in which health can be affected by conflict are protean but systematic evidence is sparse, whatever evidence exists is localised and of low to moderate quality, and that data on adolescents are sparse to non-existent. Whilst this may be true of the challenging environments of conflicts in developing countries, historically recent conflicts in Europe provide an alternative viewpoint that is frequently aired in the Auxological literature but is virtually unknown and/or unrecognised in health settings.</p><p><strong>Methods: </strong>The current paper summarises three previously published studies based on repeated cross-sectional child growth surveys in London, Oslo, and Stuttgart covering the years of the Second World War. Taken together these studies provide extensive evidence of the response of children to armed conflict in the context of secular tends in growth of children living in industrialised nations during the twentieth century.</p><p><strong>Conclusions: </strong>The conclusions to all three studies may be summarised, with regard to children in industrialised nations, as: (1) armed conflict adversely affects human growth and health, (2) armed conflict affects all age groups but adolescents more so, (3) all age groups recover from poor growth as conditions improve in relation to post-war health and welfare programmes, (4) pre-war differences in size between SES groups diminish during post-war recovery when accompanied by nutritional, welfare and reconstruction programmes.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9803553","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}
Annals of Human BiologyPub Date : 2023-02-01Epub Date: 2024-01-10DOI: 10.1080/03014460.2023.2298113
Rachel Deevey
{"title":"The Nick Norgan Award 2023.","authors":"Rachel Deevey","doi":"10.1080/03014460.2023.2298113","DOIUrl":"10.1080/03014460.2023.2298113","url":null,"abstract":"","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139405040","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}