Annals of Human Biology最新文献_第10页

Genetic diversity of 23 STR loci of the Guizhou Tujia ethnic minority and the phylogenetic relationships with 22 other populations. 贵州土家族23个STR基因座的遗传多样性及其与其他22个人群的系统发育关系

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2224971

Shuhua Li, Siyu Chai, Limei Yu, Tao Zhang, Zulin Liu, Yinlei Lei, Kaiqin Chen, Hao Zhang, YanFei Liu, Pengyu Chen

{"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":"Background: 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.Aim: To obtain genetic data from 23 autosomal STRs in Guizhou Tujia and examine the population's relationship with others.Subjects and methods: 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.Results: 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.Conclusion: 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.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"345-350"},"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}

引用次数: 0

Diversity in matrilineages among the Jomon individuals of Japan. 日本绳纹人母系的多样性。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2224060

Fuzuki Mizuno, Yasuhiro Taniguchi, Osamu Kondo, Michiko Hayashi, Kunihiko Kurosaki, Shintaroh Ueda

{"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":"Background: 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.Aim: 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.Subjects and methods: For human remains dated to 8200-8600 cal BP, we determined their complete mitogenome sequences using target enrichment-coupled next-generation sequencing.Results: 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.Conclusion: The genetic diversity within the population was not found to be low even in the Initial Jomon period.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"324-331"},"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}

引用次数: 0

New hominin dental remains from the ∼2.04-1.95 Ma Drimolen Main Quarry, South Africa. 约2.04-1.95年的新人类牙齿遗骸马德里莫伦主采石场，南非。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-10-09 DOI: 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":"Background: 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, Paranthropus and Homo.Aim: 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 Paranthropus robustus variation: sexual dimorphism, and micro-evolution within a lineage.Subjects and methods: These 19 fossils are represented by 47 dental elements and expand the sample of DMQ early Homo from 13 to 15, and the sample of Paranthropus robustus from 69 to 84.Results: The evidence presented in this paper was found to be inconsistent with the sexual dimorphism hypothesis.Conclusion: Some support was found for the micro-evolution hypothesis.","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}

引用次数: 0

Polymorphisms in PI3K/AKT genes and gene‑smoking interaction are associated with susceptibility to tuberculosis. PI3K/AKT 基因的多态性和基因与吸烟的相互作用与结核病的易感性有关。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-12-20 DOI: 10.1080/03014460.2023.2288008

Chunli Wu, Huixia Liu, Ying Lin, Rongjing An, Mian Wang, Hua Zhong, Hengzhong Yi, Qiaozhi Wang, Hongzhuan Tan, Lizhang Chen, Jing Deng, Mengshi Chen

{"title":"Polymorphisms in PI3K/AKT 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":"Background: Phosphatidylinositol 3-kinase (PI3K) and protein kinase B (AKT) are involved in the clearance of Mycobacterium tuberculosis (MTB) by macrophages.Aim: This study aimed to investigate the effects of polymorphisms in the PI3K/AKT genes and the gene-smoking interaction on susceptibility to TB.Methods: 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.Results: Genotypes GA (OR 1.562), AA (OR 2.282), and GA + AA (OR 1.650) at rs3730089 of the PI3KR1 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 AKT1 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, p < 0.05), which suggests a positive interaction.Conclusion: 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.","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}

引用次数: 0

Genomic diversity and differentiation of Alu insertion polymorphisms in a native British and four South Asian migrant populations. 英国本土和四个南亚移民人群中Alu插入多态性的基因组多样性和分化。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2180091

Rebekah Beaumont, Liz Akam, Puneetpal Singh, Jasvinder Singh Bhatti, Sarabjit Mastana

{"title":"Genomic diversity and differentiation of Alu 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":"Background: Alu 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.Aim: The objective of this study is to document the level and extent of genetic variation at 39 different Alu 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.Subjects and methods: DNA samples (n = 543) were analysed for 39 Alu insertion polymorphisms using specific primers and standard protocols. Data were analysed for population and forensic genetic parameters.Results: All studied Alus 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.Conclusion: The analysed Alus 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.","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}

引用次数: 0

Lower educational level remains associated with lower body height among Austrian conscripts born from 1961 through 2002. 1961年至2002年出生的奥地利应征入伍者中，受教育程度较低的人身高较低。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2216472

Thomas Waldhör, Sylvia Kirchengast, Alfred Juan, Lin Yang

引用次数: 0

Child growth and armed conflict. 儿童成长与武装冲突。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2224059

Noël Cameron

{"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":"Background: 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.Methods: 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.Conclusions: 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.","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}

引用次数: 1

Genetic variants of FGFR family associated with height, hypertension, and osteoporosis. FGFR家族与身高、高血压和骨质疏松相关的遗传变异

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2187457

Hye-Won Cho, Hyun-Seok Jin, Yong-Bin Eom

{"title":"Genetic variants of FGFR 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":"Background: Hypertension and osteoporosis are the most common types of health problems. A recent study suggested that the fibroblast growth factor receptor-like protein 1 (FGFRL1) gene in giraffes is the most promising candidate gene that may have direct effects on both the skeleton and the cardiovascular system.Aim: Our study purposed to replicate the finding that the FGFR5 gene is related to giraffe-related characteristics (height, hypertension, and osteoporosis), and to assess the associations between genetic variants of the FGFR family and three phenotypes.Subjects and methods: An association study was performed to confirm the connections between hypertension, osteoporosis, and height and the FGFR family proteins (FGFR1 to FGFR5).Results: We identified a total of 192 genetic variants in the FGFR family and found six SNVs in the FGFR2, FGFR3, and FGFR4 genes that were associated with two phenotypes simultaneously. Also, the FGFR family was found to be involved in calcium signalling, and three genetic variants of the FGFR3 gene showed significant signals in the pituitary and hypothalamus.Conclusion: Taken together, these findings suggest that FGFR genes are associated with hypertension, height, and osteoporosis. In particular, the present study highlights the FGFR3 gene, which influences two fundamental regulators of bone remodelling.","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}

引用次数: 0

Sex differences in radioulnar contrasts of the finger ridge counts across 21 human population samples. 21个人群样本中指骨桡尺骨计数的性别差异。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2247970

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}

引用次数: 0

Human height: a model common complex trait. 人类身高:一个典型的共同复杂特征。

IF 1.2 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2215546

Mitchell Conery, Struan F A Grant

{"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":"Context: 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.Objectives: 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.Methods: 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.Results: 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.Conclusions: 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.","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}

引用次数: 0