Annals of Human Biology最新文献_第9页

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":null,"pages":null},"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

The association between daytime sleep and general obesity risk differs by sleep duration in Iranian adults. 在伊朗成年人中，白天睡眠与一般肥胖风险之间的关系因睡眠时长而异。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2213479

Noushin Mohammadifard, Firoozeh Sajjadi, Fahimeh Haghighatdoost, Soraya Masoodi, Masoumeh Sadeghi, Hamidreza Roohafza, Maryam Maghroun, Hassan Alikhasi, Farzaneh Zamaneh, Parisa Zakeri, Simin Karimi, Nizal Sarrafzadegan

{"title":"The association between daytime sleep and general obesity risk differs by sleep duration in Iranian adults.","authors":"Noushin Mohammadifard, Firoozeh Sajjadi, Fahimeh Haghighatdoost, Soraya Masoodi, Masoumeh Sadeghi, Hamidreza Roohafza, Maryam Maghroun, Hassan Alikhasi, Farzaneh Zamaneh, Parisa Zakeri, Simin Karimi, Nizal Sarrafzadegan","doi":"10.1080/03014460.2023.2213479","DOIUrl":"https://doi.org/10.1080/03014460.2023.2213479","url":null,"abstract":"Background: Sleep duration and daytime napping and obesity are related to adiposity; however, it is not clear whether the association between daytime napping and adiposity measures can differ by sleep duration.Aim: To clarify the association between daytime napping and general and abdominal obesity based on sleep duration of participants.Subjects and methods: This cross-sectional study was conducted on 1,683 individuals (837 men and 846 women) aged ≥ 35 years. Height, weight and waist circumference (WC) were measured according to the standard protocols. Body mass index (BMI) was calculated. Self-reported sleep duration (in a 24-hour cycle) was recorded. The odds of general and abdominal obesity were compared between nappers and non-nappers, stratified by their sleep duration (≤ 6 h, 6-8 h, ≥ 8 h).Results: The mean (SD) age of participants was 47.48 ± 9.35 years. Nappers with a short sleep duration (≤ 6 h) had greater BMI and higher risk for overweight/obesity compared with counterpart non-nappers after adjustment for potential confounders (OR = 1.61, 95% CI = 1.07-2.41). In subjects with moderate sleep duration (6-8 h), nappers had a tendency towards higher BMI in comparison with non-nappers (28.04 ± 0.25 vs. 26.93 ± 0.51 kg/m2; p = 0.05), however, no significant difference was observed for the risk of obesity. Daytime napping was not related to the risk of obesity in long sleepers. No significant association was observed for abdominal obesity measures.Conclusions: Daytime napping is associated with increased risk of overweight/obesity in short sleepers. However, in subjects with longer sleep duration, it is not related to the risk of overweight/obesity.","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":"9574499","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

Haplotypic polymorphisms and forensic applications in Chinese Hunan Han population based on a series of Y-STR loci: a perspective of paternal inheritance. 基于一系列Y-STR位点的中国湖南汉族人群单倍型多态性及其法医学应用:父系遗传的视角

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2171120

Ming Zhao, Wei Cui, Yunying Zhang, Qiong Lan, Bofeng Zhu

{"title":"Haplotypic polymorphisms and forensic applications in Chinese Hunan Han population based on a series of Y-STR loci: a perspective of paternal inheritance.","authors":"Ming Zhao, Wei Cui, Yunying Zhang, Qiong Lan, Bofeng Zhu","doi":"10.1080/03014460.2023.2171120","DOIUrl":"https://doi.org/10.1080/03014460.2023.2171120","url":null,"abstract":"Background: Hunan, a multinational province in China, possesses more than fifty ethnic groups, such as the Han, Yao, Tujia, Miao, and so on.Aims: To evaluate the forensic efficiency of the novel panel and investigate the genetic relationships between Hunan Han population and 12 other reference populations from China.Subjects and methods: Haplotypic data of 153 unrelated males of Hunan Han population were investigated using the AGCU Y SUPP Plus amplification system containing 27 Y-chromosomal short tandem repeat (STR) loci. Forensic parameters were calculated to evaluate the application efficiency of this panel in Hunan Han population.Results: Haplotype diversity, discrimination capability, and match probability values were 0.9999999977, 1.0000, and 0.0065, respectively. Pairwise fixation index values demonstrated that the minimal genetic differentiation (0.0073) was found between Hunan Han population and Hunan Yao group, while the maximal genetic differentiation (0.0651) was observed between Hunan Han and Guangxi Yao group from the perspective of the patrilineal DNA analysis.Conclusions: The haplotype distributions of 27 Y-STR loci in Hunan Han population exhibited remarkable polymorphisms. Moreover, this panel has potential advantages for the forensic applications regarding family investigations, paternity testing of the paternal line, and population genetics.","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":"10855147","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 and phylogenetic characteristics of Tibeto-Burman-speaking Lahu population from southwest China based on 41 Y-STR loci. 基于41个Y-STR位点的中国西南藏缅语系拉祜族群体遗传多态性及系统发育特征

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2171123

Chongchong Xu, Wei Wei, Mingxin Zuo, Wu Zuo, Kuan Li, Xinqing Lian, Shixu Wang, Xuemei Zhou, Xiufeng Zhang, Shurong Zhong

{"title":"Genetic polymorphisms and phylogenetic characteristics of Tibeto-Burman-speaking Lahu population from southwest China based on 41 Y-STR loci.","authors":"Chongchong Xu, Wei Wei, Mingxin Zuo, Wu Zuo, Kuan Li, Xinqing Lian, Shixu Wang, Xuemei Zhou, Xiufeng Zhang, Shurong Zhong","doi":"10.1080/03014460.2023.2171123","DOIUrl":"https://doi.org/10.1080/03014460.2023.2171123","url":null,"abstract":"Background: Male sex-linked Y-chromosome short tandem repeats (Y-STRs) have been widely used in forensic cases and population genetics research. At present, the forensic-related Y-STR data in the Chinese Lahu population are still poorly understood.Aim: To enrich the available Y-STR data of this Chinese minority population and investigate its phylogenetic relationships with other reported populations.Subjects and methods: The genetic polymorphisms of 41 Y-STR loci were analysed in 299 unrelated healthy Lahu male individuals from Southwest China. Phylogenetic analyses were performed by multidimensional scaling analysis and neighbor-joining phylogenetic tree construction.Results: A total of 379 alleles were observed at the 41 Y-STR loci. The allele frequencies ranged from 0.0033 to 0.9666. The genetic diversity values ranged from 0.0653 to 0.9072. A total of 254 different haplotypes of the 41 Y-STR loci were observed in 299 individuals. The values of haplotype diversity, haplotype match probability, and discrimination capacity were 0.9987, 0.0047, and 0.8495, respectively. The phylogenetic analysis indicated that the Tibeto-Burman-speaking Lahu population showed a close genetic relationship with the Yunnan Yi population.Conclusions: The haplotype data of the present study can enrich the forensic databases of this Chinese minority population and will be useful for population genetics and forensic DNA application.","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":"10855149","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

Cadmium exposure is associated with chronic kidney disease in a superfund site lead smelter community in Dallas, Texas. 在德克萨斯州达拉斯市的一个铅冶炼厂社区，镉暴露与慢性肾病有关。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2236017

Bert B Little, Giang T Vu, Brad Walsh

{"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":"Background: 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.Aim: To test the hypothesis that cadmium (Cd) exposure is associated with chronic kidney disease (CKD) ≥ stage 3.Subjects and methods: Subjects were African American residents aged ≥19 to ≤ 89 years (n=835). CKD ≥ stage 3 was predicted by blood Cd concentration with covariates.Results: In logistic regression analysis, CKD ≥ stage 3 was predicted by age ≥ 50 years (OR = 4.41, p < 0.0001), Cd level (OR = 1.89, p < .05), hypertension (OR = 3.15, p < 0.03), decades living in the community (OR = 1.34, p < 0.003) and T2DM (OR = 2.51, p < 0.01). Meta-analysis of 11 studies of Cd and CKD ≥ stage 3 yielded an ORRANDOM of 1.40 (p < 0.0001). Chronic environmental Cd exposure is associated with CKD ≥ stage 3 in a Dallas lead smelter community controlling covariates.Conclusion: 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).","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":"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}

引用次数: 0

Unveiling genetic diversity and forensic utility of SureID® human DNA identification kits: a comprehensive analysis of 44 autosomal STR loci in English and Irish populations. 揭示SureID®人类DNA鉴定试剂盒的遗传多样性和法医实用性：对英国和爱尔兰人群中44个常染色体STR基因座的综合分析。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-10-10 DOI: 10.1080/03014460.2023.2265814

Sasitaran Iyavoo, Jessica Perry, Simon Knights, Michalis Mavrommatis, Tatiana Petrova, Abigail Bevan, Stephen Cummings, Sharlize Pedroza Matute, Danlu Song, Thomas Haizel

{"title":"Unveiling genetic diversity and forensic utility of SureID® human DNA identification kits: a comprehensive analysis of 44 autosomal STR loci in English and Irish populations.","authors":"Sasitaran Iyavoo, Jessica Perry, Simon Knights, Michalis Mavrommatis, Tatiana Petrova, Abigail Bevan, Stephen Cummings, Sharlize Pedroza Matute, Danlu Song, Thomas Haizel","doi":"10.1080/03014460.2023.2265814","DOIUrl":"10.1080/03014460.2023.2265814","url":null,"abstract":"Background: Human identification and kinship testing in forensic science rely on Short Tandem Repeat (STR) multiplex kits, typically containing loci recommended by standard sets. However, complementary kits with additional STR loci can be valuable in complex cases. Allele frequency databases specific to the population are essential for accurate forensic analysis.Aim: This study aimed to generate allele frequencies and population genetic data for 44 autosomal STR loci from SureID® PanGlobal and 27comp kits in English and Irish populations for forensic casework, human identification, and kinship testing.Subjects and methods: Buccal swab samples from 645 White Caucasians (365 English, 280 Irish) were collected. DNA was extracted and amplified using the mentioned kits. Quality control, statistical analysis, and genetic distance calculations were performed.Results: Both kits demonstrated robustness with no significant deviations from Hardy-Weinberg Equilibrium (HWE). Variant alleles and minor discordances between kits were observed. Syntenic STR pairs were identified but showed no significant linkage. A close genetic relationship was found between English and Irish populations, allowing for combined databases.Conclusions: The SureID® PanGlobal and 27comp kits showed high discriminatory power and reliability in the English and Irish populations. Care is needed when handling variant alleles, discordances, and syntenic loci. Combining data from both populations is feasible for a comprehensive database. Further studies are required to explore their effectiveness in diverse 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":"41184101","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

Bioinformatics analysis of the potential mechanisms of Alzheimer's disease induced by exposure to combined triazine herbicides. 接触三嗪类除草剂诱发阿尔茨海默病潜在机制的生物信息学分析。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-10-11 DOI: 10.1080/03014460.2023.2259242

Jianan Li, Ling Qi, Yuxin Chen, Haoming Lv, Haoran Bi

{"title":"Bioinformatics analysis of the potential mechanisms of Alzheimer's disease induced by exposure to combined triazine herbicides.","authors":"Jianan Li, Ling Qi, Yuxin Chen, Haoming Lv, Haoran Bi","doi":"10.1080/03014460.2023.2259242","DOIUrl":"10.1080/03014460.2023.2259242","url":null,"abstract":"Background: The development of Alzheimer's disease (AD) is promoted by a combination of genetic and environmental factors. Notably, combined exposure to triazine herbicides atrazine (ATR), simazine (SIM), and propazine (PRO) may promote the development of AD, but the mechanism is unknown.Aim: To study the molecular mechanism of AD induced by triazine herbicides.Methods: Differentially expressed genes (DEGs) of AD patients and controls were identified. The intersectional targets of ATR, SIM, and PRO for possible associations with AD were screened through network pharmacology and used for gene ontology (GO) and Kyoto Encyclopaedia of Genes and Genomes (KEGG) enrichment analysis. The binding potentials between the core targets and herbicides were validated by molecular docking and molecular dynamics.Results: A total of 1,062 DEGs were screened between the AD patients and controls, which identified 148 intersectional targets of herbicides causing AD that were screened by network pharmacology analysis. GO and KEGG enrichment analysis revealed that cell cycling and cellular senescence were important signalling pathways. Finally, the core targets EGFR, FN1, and TYMS were screened and validated by molecular docking and molecular dynamics.Conclusion: Our results suggest that combined exposure to triazine herbicides might promote the development of AD, thereby providing new insights for the prevention of AD.","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":"41219362","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

Forensic characterisation and polymorphism analysis of 16 X-chromosomal STRs in the Jining Han population in Eastern China. 中国东部济宁汉族人群16个x染色体STRs的法医学特征及多态性分析

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2213478

Yequan Wang, Ao Gao, Xiudi Hou, Qi Liu, Dan Wang, Zhen Dang

{"title":"Forensic characterisation and polymorphism analysis of 16 X-chromosomal STRs in the Jining Han population in Eastern China.","authors":"Yequan Wang, Ao Gao, Xiudi Hou, Qi Liu, Dan Wang, Zhen Dang","doi":"10.1080/03014460.2023.2213478","DOIUrl":"https://doi.org/10.1080/03014460.2023.2213478","url":null,"abstract":"Background: X-chromosomal short tandem repeats (X-STRs) are a useful supplementary approach to analysing autosomal markers in forensics and kinship studies; such markers are not well-characterised in many populations.Aim: To investigate population genetic polymorphism and forensic characterisation of 16 X-STRs in the Jining Han population, and analyse genetic relationships with other Chinese populations.Subjects and methods: Allele frequencies for 16 X-STR loci were obtained from a sample set of 527 unrelated individuals from the Jining Han population. Population genetic analyses of Jining Han and another 10 reference populations were conducted using phylogenetic tree, principal component analysis and multidimensional scaling.Results: We detected 149 alleles, with frequencies ranging from 0.0013 to 0.8242. The combined powers of discrimination in males and females were 0.999999997194774 and 0.999999999999995, respectively. The combined mean exclusion change (MEC)Krüger, MECKishida, MECDesmarais, and MECDesmarais Duos values were 0.999974632649096, 0.999999976997582, 0.999999977013201, and 0.999993755768423, respectively. We detected relatively high genetic homogeneity in populations with similar ethnic or geographic origins, and a close relationship between the Jining Han and Beijing Han populations.Conclusions: The present findings indicate that the 16 X-STR loci examined are highly polymorphic in the Han population of Jining, providing useful information for forensic science and population genetics studies.","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":"10158685","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

Establishment of reference intervals for bone turnover markers in healthy Chinese older adults. 中国健康老年人骨转换指标参考区间的建立

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 DOI: 10.1080/03014460.2023.2187456

Li-Li Sun, Rong-Rong Cao, Jin-Di Wang, Guo-Long Zhang, Fei-Yan Deng, Shu-Feng Lei

{"title":"Establishment of reference intervals for bone turnover markers in healthy Chinese older adults.","authors":"Li-Li Sun, Rong-Rong Cao, Jin-Di Wang, Guo-Long Zhang, Fei-Yan Deng, Shu-Feng Lei","doi":"10.1080/03014460.2023.2187456","DOIUrl":"https://doi.org/10.1080/03014460.2023.2187456","url":null,"abstract":"Background: Reference ranges for bone turnover markers (BTMs) are still lacking in the healthy Chinese population.Aim: To establish reference intervals for BTMs and to investigate the correlations between BTMs and bone mineral density (BMD) in Chinese older adults.Subjects and methods: A community-based cross-sectional study was conducted among 2511 Chinese subjects aged over 50 yrs residing in Zhenjiang, Southeast China. Reference intervals for BTMs (i.e. procollagen type I N-terminal propeptide, P1NP; β cross-linked C-terminal telopeptide of type I collagen, β-CTX) were calculated as the central 95% range of all measurements in Chinese older adults.Results: The reference intervals of P1NP, β-CTX and P1NP/β-CTX were 15.8-119.9 ng/mL, 0.041-0.675 ng/mL and 49.9-1261.5 for females and 13.6-111.4 ng/mL, 0.038-0.627 ng/mL and 41.0-1269.1 for males, respectively. In the multiple linear regression analysis, only β-CTX was negatively associated with BMD after adjusting for age and body mass index (BMI) in both sex-stratified groups (all p < .05).Conclusion: This study established age- and sex-specific reference intervals for BTMs in a large sample of healthy Chinese participants ≥ 50 and < 80 years of age and explored the correlations between BTMs and BMD, which provides an effective reference for the assessment of bone turnover in the clinical practice of osteoporosis.","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":"9836764","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

Population genetic analysis of 12 X-STR markers in Slovakia. 斯洛伐克12个X-STR标记的群体遗传分析。

IF 1.7 4区医学

Annals of Human Biology Pub Date : 2023-02-01 Epub Date: 2023-10-09 DOI: 10.1080/03014460.2023.2264769

Zdenko Červenák, Filip Červenák, Andrej Choma, Marián Baldovič, Soňa Masnicová

{"title":"Population genetic analysis of 12 X-STR markers in Slovakia.","authors":"Zdenko Červenák, Filip Červenák, Andrej Choma, Marián Baldovič, Soňa Masnicová","doi":"10.1080/03014460.2023.2264769","DOIUrl":"10.1080/03014460.2023.2264769","url":null,"abstract":"Background: During the last 20 years, X-chromosomal STR markers have become widely used in forensic genetics and paternity testing. Nevertheless, to exploit their full potential in any given population, a reliable reference dataset needs to be established. Since no relevant studies concerning these markers have been performed on the Slovak population so far, we decided to analyse several commonly used markers in this population.Aim: To create an informative set of Slovak population data concerning X-STR markers.Subjects and methods: We genotyped 378 individuals and analysed 12 loci (DXS10148, DX10135, DXS8378, DXS7132, DXS10079, DXS10074, DXS10103, HPRTB, DXS10101, DXS10146, DXS10134 and DXS742) localised in four distinct linkage groups.Results: Our analysis showed that the most informative marker is DXS10135 (PIC = 0,927) and the most informative linkage group (LG) is LG1 with 149 different haplotypes. This analysis also confirmed linkage disequilibrium for two pairs of markers (DX10101-DX10103 and DX10101-HPRTB) within LG3 in female samples. No statistically significant departure from HWE was observed for any locus. Moreover, the interpopulation comparison of 8 European populations based on haplotype frequencies showed no statistically significant FST values in any LG, except for LG2 in comparison with the German population.Conclusion: We created a haplotype database for forensic analyses and kinship testing in Slovakia, as well as the CE dataset which can be used to further increase the decision power in similar analyses in the future.","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":"41168761","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