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":"50 1","pages":"407-427"},"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":"50 1","pages":"472-479"},"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":"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":"50 1","pages":"117-122"},"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}
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":"50 1","pages":"219-222"},"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":"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":"50 1","pages":"301-307"},"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}
{"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":"50 1","pages":"187-195"},"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":"50 1","pages":"370-389"},"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}
{"title":"Human height: a model common complex trait.","authors":"Mitchell Conery, Struan F A Grant","doi":"10.1080/03014460.2023.2215546","DOIUrl":"10.1080/03014460.2023.2215546","url":null,"abstract":"<p><strong>Context: </strong>Like other complex phenotypes, human height reflects a combination of environmental and genetic factors, but is notable for being exceptionally easy to measure. Height has therefore been commonly used to make observations later generalised to other phenotypes though the appropriateness of such generalisations is not always considered.</p><p><strong>Objectives: </strong>We aimed to assess height's suitability as a model for other complex phenotypes and review recent advances in height genetics with regard to their implications for complex phenotypes more broadly.</p><p><strong>Methods: </strong>We conducted a comprehensive literature search in PubMed and Google Scholar for articles relevant to the genetics of height and its comparatibility to other phenotypes.</p><p><strong>Results: </strong>Height is broadly similar to other phenotypes apart from its high heritability and ease of measurment. Recent genome-wide association studies (GWAS) have identified over 12,000 independent signals associated with height and saturated height's common single nucleotide polymorphism based heritability of height within a subset of the genome in individuals similar to European reference populations.</p><p><strong>Conclusions: </strong>Given the similarity of height to other complex traits, the saturation of GWAS's ability to discover additional height-associated variants signals potential limitations to the omnigenic model of complex-phenotype inheritance, indicating the likely future power of polygenic scores and risk scores, and highlights the increasing need for large-scale variant-to-gene mapping efforts.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"258-266"},"PeriodicalIF":1.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10368389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9871286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","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":"50 1","pages":"480"},"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}
{"title":"Cadmium exposure is associated with chronic kidney disease in a superfund site lead smelter community in Dallas, Texas.","authors":"Bert B Little, Giang T Vu, Brad Walsh","doi":"10.1080/03014460.2023.2236017","DOIUrl":"https://doi.org/10.1080/03014460.2023.2236017","url":null,"abstract":"<p><p><b>Background:</b> The study was conducted in a Dallas lead smelter community following an Environmental Protection Agency (EPA) Superfund Cleanup project. Lead smelters operated in the Dallas community since the mid-1930s.<b>Aim:</b> To test the hypothesis that cadmium (Cd) exposure is associated with chronic kidney disease (CKD) ≥ stage 3.<b>Subjects and methods:</b> Subjects were African American residents aged ≥19 to ≤ 89 years (n=835). CKD ≥ stage 3 was predicted by blood Cd concentration with covariates.<b>Results:</b> In logistic regression analysis, CKD ≥ stage 3 was predicted by age ≥ 50 years (OR = 4.41, <i>p</i> < 0.0001), Cd level (OR = 1.89, <i>p</i> < .05), hypertension (OR = 3.15, <i>p</i> < 0.03), decades living in the community (OR = 1.34, <i>p</i> < 0.003) and T2DM (OR = 2.51, <i>p</i> < 0.01). Meta-analysis of 11 studies of Cd and CKD ≥ stage 3 yielded an ORRANDOM of 1.40 (<i>p</i> < 0.0001). Chronic environmental Cd exposure is associated with CKD ≥ stage 3 in a Dallas lead smelter community controlling covariates.<b>Conclusion:</b> Public health implications include screening for heavy metals including Cd, cleanup efforts to remove Cd from the environment and treating CKD with newer renal-sparing medications (e.g., SGLT-2 inhibitors, GLP-1s).</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"360-369"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10442624","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}