Annals of Human Biology最新文献_第7页

Exploring biomarkers of Alzheimer's disease based on multi-omics and Mendelian randomisation analysis. 基于多组学和孟德尔随机分析探索阿尔茨海默病的生物标志物。

IF 1.2 4区医学

Annals of Human Biology Pub Date : 2024-02-01 Epub Date: 2024-11-07 DOI: 10.1080/03014460.2024.2415035

Kun Tu, Wenhui Zhou, Shubing Kong

{"title":"Exploring biomarkers of Alzheimer's disease based on multi-omics and Mendelian randomisation analysis.","authors":"Kun Tu, Wenhui Zhou, Shubing Kong","doi":"10.1080/03014460.2024.2415035","DOIUrl":"https://doi.org/10.1080/03014460.2024.2415035","url":null,"abstract":"Background: Alzheimer's disease (AD) is an irreversible neurodegenerative disorder with no fully curative treatment.Aim: This study aims to identify effective biomarkers for AD diagnosis and treatment by combining multi-omics and Mendelian randomisation (MR) analyses.Subjects and methods: Positron emission tomography (PET), single nucleotide polymorphism (SNP), and gene expression data of AD patients using advanced correlation analysis methods (AdaSMCCA, rAdaSMCCA, and unAdaSMCCA algorithms) are integrated.Results: Several regions of interest, risk SNP sites, and risk genes associated with AD are identified. Expression quantitative trait loci (eQTL) for the top 100 risk genes are retrieved from public datasets. A two-sample MR analysis using genome-wide association study (GWAS) data reveals two genes (FAM117A and ACSL1) causally related to AD. Additionally, single-cell transcriptome (scRNA-seq) data from AD samples are analysed to identify high-scoring cell clusters and their interactions.Conclusions: The identified multi-omics biomarkers and genes causally related to AD could inform clinical diagnosis and treatment.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"51 1","pages":"2415035"},"PeriodicalIF":1.2,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606492","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

Paediatric dominant and non-dominant handgrip reference curves and the association with body composition 儿科优势和非优势手握参考曲线以及与身体成分的关系

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2024-01-22 DOI: 10.1080/03014460.2023.2298474

Catherine M. Avitabile, David R. Weber, Babette S. Zemel

引用次数: 0

Linking infant size and early growth with maternal lifestyle and breastfeeding - the first year of life in the CRIBS cohort. 将婴儿的大小和早期成长与母亲的生活方式和母乳喂养联系起来——在CRIBS队列中第一年的生活。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2224058

Jelena Šarac, Dubravka Havaš Auguštin, Iva Šunić, Mario Lovrić, Natalija Novokmet, Sanja Musić Milanović, Lawrence M Schell, Saša Missoni

{"title":"Linking infant size and early growth with maternal lifestyle and breastfeeding - the first year of life in the CRIBS cohort.","authors":"Jelena Šarac, Dubravka Havaš Auguštin, Iva Šunić, Mario Lovrić, Natalija Novokmet, Sanja Musić Milanović, Lawrence M Schell, Saša Missoni","doi":"10.1080/03014460.2023.2224058","DOIUrl":"https://doi.org/10.1080/03014460.2023.2224058","url":null,"abstract":"Background: Every third child in Croatia is classed as overweight or obese. Infant growth can represent early warning signs for obesity.Aim: To detect early risk factors for obesity by investigating infant size and early growth trajectories and their association with maternal lifestyle and breastfeeding.Subjects and methods: Ninety-eight mother-child pairs from the Croatian Islands' Birth Cohort Study (CRIBS) cohort were included in the study. Data were collected from questionnaires and medical records. Growth data were converted to Z-scores using World Health Organisation (WHO) standards and used as the primary outcome.Results: Z-score trajectories in the first year of life were in line with WHO standards. A direct link between infant size and maternal socioeconomic status (SES) or breastfeeding was not detected. However, child weight gain in the first 6 months was associated with maternal body mass index (BMI) before pregnancy (p < 0.01). A positive association was also established between breastfeeding and maternal SES and mothers that report an unhealthy diet have heavier children (p < 0.05, respectively).Conclusion: Infant size and early growth in Croatia is in line with WHO standards and risk factors for obesity development were detectable in the first year of life, but not highly pronounced. However, more effective BMI monitoring and promotion of a healthy diet and lifestyle of women before and during pregnancy is needed.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"332-340"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10192746","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

Time to treat the climate and nature crisis as one indivisible global health emergency. 是时候将气候和自然危机视为一个不可分割的全球卫生紧急事件了。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-11-07 DOI: 10.1080/03014460.2023.2276516

Kamran Abbasi, Parveen Ali, Virginia Barbour, Thomas Benfield, Kirsten Bibbins-Domingo, Gregory E Erhabor, Stephen Hancocks, Richard Horton, Laurie Laybourn-Langton, Robert Mash, Peush Sahni, Wadeia Mohammad Sharief, Paul Yonga, Chris Zielinski

引用次数: 0

Bioarchaeological study of ancient Teotihuacans based on complete mitochondrial genome sequences and diet isotopes. 基于线粒体全基因组序列和饮食同位素的古代特奥替华Can的生物考古学研究。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-10-09 DOI: 10.1080/03014460.2023.2261844

Fuzuki Mizuno, Fuyuki Tokanai, Masahiko Kumagai, Koji Ishiya, Saburo Sugiyama, Michiko Hayashi, Kunihiko Kurosaki, Shintaroh Ueda

{"title":"Bioarchaeological study of ancient Teotihuacans based on complete mitochondrial genome sequences and diet isotopes.","authors":"Fuzuki Mizuno, Fuyuki Tokanai, Masahiko Kumagai, Koji Ishiya, Saburo Sugiyama, Michiko Hayashi, Kunihiko Kurosaki, Shintaroh Ueda","doi":"10.1080/03014460.2023.2261844","DOIUrl":"10.1080/03014460.2023.2261844","url":null,"abstract":"Background: The Teotihuacan civilisation was the largest one in ancient Mesoamerica. The Teotihuacan city was born in the north-eastern Basin of Mexico around the second century BC, reached its peak in the fourth century AD, and had cultural influence throughout Mesoamerica. At its peak, the size of the city reached more than 20 km2, and the total population is estimated to have increased from 100,000 to 200,000. However, knowledge of the genetic background of the Teotihuacan people is still limited.Aim: We aimed to determine the mitogenome sequences of the Teotihuacan human remains and compare the ancient and present Mesoamericans. In addition, we aimed to identify the food habits of ancient Teotihuacans.Subjects and methods: We determined the mitogenome sequences of human remains dated to 250-636 cal AD using target enrichment-coupled next generation sequencing. We also performed stable isotope analysis.Results: We successfully obtained nearly full-length sequences newly unearthed from a civilian dwelling in the Teotihuacan site. Teotihuacan mitochondrial DNA was classified into the haplogroups in present and ancient Mesoamericans. In addition, Teotihuacan individuals had a diet dependent on C4 plants such as maize.Conclusion: Genetic diversity varied among the Teotihuacans.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"390-398"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41173790","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

Genetic polymorphisms of 19 X-STRs in populations of Hubei Han and Guangxi Zhuang and their comparisons with 13 other Chinese populations. 湖北汉族和广西壮族19个X-STRs的遗传多态性及其与其他13个中国人群的比较

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2166990

Fei Long, Hui Fang, Chunmei Zhang, Shengjie Chen, Daixin Huang, Chao Xiao

{"title":"Genetic polymorphisms of 19 X-STRs in populations of Hubei Han and Guangxi Zhuang and their comparisons with 13 other Chinese populations.","authors":"Fei Long, Hui Fang, Chunmei Zhang, Shengjie Chen, Daixin Huang, Chao Xiao","doi":"10.1080/03014460.2023.2166990","DOIUrl":"https://doi.org/10.1080/03014460.2023.2166990","url":null,"abstract":"Background: A prerequisite for applying short tandem repeat (STR) kits is obtaining population allele and/or haplotype frequencies and forensic parameters.Aim: Firstly, we aimed to investigate the population data of 19 X-chromosomal STRs (X-STRs) included in the AGCU X19 STR kit in the Han people residing in Hubei Province, Central China, and the Zhuang people residing in the Guangxi Zhuang Autonomous Region of South China. Furthermore, we compared these population data with those for other Chinese populations.Subjects and methods: In total, 509 unrelated Han males and 266 unrelated Zhuang males were genotyped using the AGCU X19 STR kit. Allele frequencies, haplotype frequencies, and forensic parameters were computed, and genetic differences among 15 Chinese populations were analysed.Results: The 19 X-STRs showed a high power of discrimination and high mean chance of exclusion, whether calculated using allele or haplotype frequencies. Major differences were found between Han and Oroqen, Uyghur, Mongolian, Tibetan, Li, and Yi populations. Aberrant biallelic patterns at DXS10159, DXS10134, and DXS10079 and allelic dropouts at DXS10164 were observed.Conclusion: The 19 X-STRs were highly polymorphic in the Hubei Han and Guangxi Zhuang populations, and the AGCU X19 STR kit was shown to be suitable for forensic casework.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"8-14"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9220509","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

Relationship of digit ratio with sexual steroid hormone receptor related genes - single nucleotide polymorphisms in a sample from Northern China. 手指比例与中国北方地区性类固醇激素受体相关基因的关系——单核苷酸多态性。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2225873

Jie Dang, Chengfeng Ma, Fan Li, Jing Zhang, Yuan Wang, Liang Peng, Zhenghao Huo, Hong Lu, Zhanbing Ma

{"title":"Relationship of digit ratio with sexual steroid hormone receptor related genes - single nucleotide polymorphisms in a sample from Northern China.","authors":"Jie Dang, Chengfeng Ma, Fan Li, Jing Zhang, Yuan Wang, Liang Peng, Zhenghao Huo, Hong Lu, Zhanbing Ma","doi":"10.1080/03014460.2023.2225873","DOIUrl":"https://doi.org/10.1080/03014460.2023.2225873","url":null,"abstract":"Background: Digit ratio, especially 2D:4D, is hypothesised as a potential biological marker of exposure to intrauterine sex hormones. The aim of this study was to investigate the association between 10 SNPs of sex steroid hormone receptor (SSHR) related genes and 2D:4D.Subjects and methods: 814 college students were randomly selected as research participants. After taking pictures of both hands of the participants, Image Pro Plus (IPP) software was used to measure 2D:4D. ESR1 (rs2228480 and rs3798758), ESR2 (rs944459, rs8006145, rs928554, and rs8018687), GPER1 (rs10269151 and rs12702047), and PGR (rs1042839 and rs500760) were genotyped using multiplex PCR.Results: Females had significantly higher 2D:4D in both hands than male students (p < 0.05), and the R2D:4D of the Han population was significantly higher than that of the Hui population (p < 0.05). The number of females carrying the GPER1 G allele of rs12702047 was significantly higher than that of males (p < 0.05). The L2D:4D in males was significantly different in rs1042839, and the R2D:4D in the Han ethnicity was significantly different in rs3798758. Logistic regression analysis showed that rs12702047 was significantly associated with 2D:4D in both hands (p < 0.05).Conclusions: GPER1 rs12702047 may be involved in the formation of digit ratio by affecting phalanx development in the Chinese population.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"308-323"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9810358","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

Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes. 对巴基斯坦对照组中无语言或语言相关发育表型病史的同基因组运行进行全基因组分析。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2180087

Tahira Yasmin, Erin M Andres, Komal Ashraf, Muhammad Asim Raza Basra, Muhammad Hashim Raza

{"title":"Genome-wide analysis of runs of homozygosity in Pakistani controls with no history of speech or language-related developmental phenotypes.","authors":"Tahira Yasmin, Erin M Andres, Komal Ashraf, Muhammad Asim Raza Basra, Muhammad Hashim Raza","doi":"10.1080/03014460.2023.2180087","DOIUrl":"10.1080/03014460.2023.2180087","url":null,"abstract":"Background: Runs of homozygosity (ROHs) analysis of controls provide a convenient resource to minimize the association of false positive results of disease-associated ROHs and genetic variants for simple and complex disorders in individuals from the same population. Evidence for the value of ROHs to speech or language-related traits is restricted due to the absence of population-matched behaviourally defined controls and limited family-based studies.Aim: This study aims to identify common ROHs in the Pakistani population, focussing on the total length and frequency of ROHs of variable sizes, shared ROHs, and their genomic distribution.Subjects and methods: We performed homozygosity analysis (in PLINK) of 86 individuals (39 males, 47 females) with no history of speech or language-related phenotypes (controls) who had been genotyped with the Illumina Infinium QC Array-24.Results: ROHs of 1-<4 megabases (Mb) were frequent in unrelated individuals. We observed ROHs over 20 Mb among six individuals. Over 30 percent of the identified ROHs were shared among several individuals, indicating consanguinity's effect on the Pakistani population.Conclusion: Our findings serve as a foundation for family-based genetic studies of consanguineous families with speech or language-related disorders to ultimately narrow the homozygosity regions of interest to identify pathogenic variants.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"100-107"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10284496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9831198","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

Genetic diversity of 23 Y-STR loci of the Lisu ethnic minority residing in Chuxiong Yi Autonomous Prefecture, Yunnan province, Southwest China. 中国西南部云南省楚雄彝族自治州傈僳族 23 个 Y-STR 位点的遗传多样性。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-07-31 DOI: 10.1080/03014460.2023.2224972

Xiufeng Zhang, Hecheng Zheng, Chengjing Liu

{"title":"Genetic diversity of 23 Y-STR loci of the Lisu ethnic minority residing in Chuxiong Yi Autonomous Prefecture, Yunnan province, Southwest China.","authors":"Xiufeng Zhang, Hecheng Zheng, Chengjing Liu","doi":"10.1080/03014460.2023.2224972","DOIUrl":"10.1080/03014460.2023.2224972","url":null,"abstract":"Background: The Lisu group is a unique minority in Yunnan province. However, there is a lack of Y-STR population data for Chinese Lisu and the genetic structure of the Lisu group and other populations is unclear.Aim: To provide genetic data for 23 Y-STRs in the Chinese Lisu population from Chuxiong Yi Autonomous Prefecture, as well as to analyse population genetic relationships between Chinese Lisu ethnic minority and other reference groups.Subjects and methods: 423 unrelated healthy Lisu males were genotyped using the PowerPlex® Y23 system. Forensic parameters were calculated according to the previously published studies. Genetic structure analysis among Chinese Lisu and other populations was conducted using the YHRD's AMOVA tools.Results: Gene diversity (GD) ranged from 0.2,466 (DYS438) to 0.8,945 (DYS385a/b) among the 23 Y-STR loci. According to haplotype analysis, 323 different haplotypes were obtained, out of which 271 were unique. The haplotype diversity (HD) and discrimination capacity (DC) were 0.9,977 and 0.7,636, respectively. MDS plot indicated that the Chuxiong Lisu group is genetically related to the Yunnan Yi group.Conclusions: This is the first report on Y-STR population data for the Chinese Lisu population. These data would be valuable for forensic applications.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"356-359"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10256157","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

Analysis of the TSER and G>C variants in the TYMS gene: a high frequency of low expression genotypes predicted in the Mexican population. 分析TYMS基因的TSER和G>C变异:墨西哥人群中预测的低表达基因型的高频率。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2180088

Favela-Mendoza Alma Faviola, Godínez-López Andrea Dinorah, Chávez-Arreguin Mariana, Aguilar-Velázquez José Alonso, Martínez-Cortes Gabriela, Rangel-Villalobos Héctor

{"title":"Analysis of the TSER and G>C variants in the TYMS gene: a high frequency of low expression genotypes predicted in the Mexican population.","authors":"Favela-Mendoza Alma Faviola, Godínez-López Andrea Dinorah, Chávez-Arreguin Mariana, Aguilar-Velázquez José Alonso, Martínez-Cortes Gabriela, Rangel-Villalobos Héctor","doi":"10.1080/03014460.2023.2180088","DOIUrl":"https://doi.org/10.1080/03014460.2023.2180088","url":null,"abstract":"Background: In the TYMS gene promoter, there is a repeat polymorphism (TSER) that affects the expression level of the thymidylate synthetase (TS) enzyme involved in the response to some anticancer drugs. The G>C transversion located in the TSER*3R allele decreases the expression level of the TS enzyme avoiding the upstream stimulatory factor (USF-1) binding site. Despite the biomedical impact of the SNP G>C, only TSER has been reported in most worldwide populations. Thus, we studied both TSER and SNP G>C variants in the Mexican population.Subjects and methods: A population sample (n = 156) was genotyped for the TSER and G>C variants by PCR and PCR-RFLPs, respectively, followed by PAGE and silver staining.Results: For TSER, the most frequent allele was 2 R (52.56%), as well as the genotype 2 R/3R (42.3%). Comparison with Latin American, European, and American (USA) populations suggest a heterogeneous worldwide distribution (FST-value = 0.01564; p-value = 0.0000). When the G>C variant was included (2RG, 3RG, and 3RC), a high frequency of low expression genotypes was observed: 2RG/2RG, 2RG/3RC, and 3RC/3RC (84.6%).Conclusion: The high frequency of genotypes associated with low TS enzyme expression justifies obtaining the TYMS gene variant profile in Mexican patient's candidates to pharmaceutical treatments like 5'-Fluoracil, methotrexate, and pemetrex.","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":"50 1","pages":"94-99"},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9088495","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