Pub Date : 2023-02-01DOI: 10.1080/03014460.2023.2171120
Ming Zhao, Wei Cui, Yunying Zhang, Qiong Lan, Bofeng Zhu
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.
背景:湖南是中国的一个多民族省份,有汉族、瑶族、土家族、苗族等五十多个民族。目的:评价新群体的法医学鉴定效率,探讨湖南汉族群体与中国其他12个参考群体的遗传关系。对象与方法:采用AGCU Y SUPP Plus基因扩增系统对153名湖南汉族无亲缘关系男性进行单倍型分析,该系统包含27个Y染色体短串联重复(STR)位点。计算法医学参数,评价该面板在湖南汉族人群中的应用效率。结果:单倍型多样性值为0.9999999977,辨别能力值为1.0000,匹配概率值为0.0065。父系DNA分析结果显示,湖南汉族群体与湖南瑶族群体的遗传分化最小(0.0073),而湖南汉族与广西瑶族群体的遗传分化最大(0.0651)。结论:湖南汉族人群27个Y-STR基因座单倍型分布具有显著的多态性。此外,该小组在家庭调查,父系亲子鉴定和群体遗传学的法医应用方面具有潜在的优势。
{"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":"<p><strong>Background: </strong>Hunan, a multinational province in China, possesses more than fifty ethnic groups, such as the Han, Yao, Tujia, Miao, and so on.</p><p><strong>Aims: </strong>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.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"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}
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.
{"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":"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>To enrich the available Y-STR data of this Chinese minority population and investigate its phylogenetic relationships with other reported populations.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"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}
Pub Date : 2023-02-01DOI: 10.1080/03014460.2023.2236017
Bert B Little, Giang T Vu, Brad Walsh
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).
背景:这项研究是在环境保护署(EPA)超级基金清理项目之后在达拉斯铅冶炼厂社区进行的。自20世纪30年代中期以来,达拉斯社区就开始经营铅冶炼厂。目的:验证镉(Cd)暴露与慢性肾病(CKD)≥3期相关的假设。研究对象和方法:研究对象为年龄≥19 ~≤89岁的非裔美国居民(n=835)。血Cd浓度与协变量预测CKD≥3期。结果:在logistic回归分析中,年龄≥50岁(OR = 4.41, p < 0.0001)、Cd水平(OR = 1.89, p < 0.05)、高血压(OR = 3.15, p < 0.03)、社区生活年限(OR = 1.34, p < 0.003)和T2DM (OR = 2.51, p < 0.01)预测CKD≥3期。对11项Cd和CKD≥3期研究的荟萃分析显示,ORRANDOM为1.40 (p < 0.0001)。在达拉斯铅冶炼厂社区控制协变量中,慢性环境镉暴露与CKD≥3期相关。结论:公共卫生影响包括重金属(包括Cd)的筛查,清除环境中Cd的努力,以及使用更新的肾脏保护药物(例如SGLT-2抑制剂,glp -1)治疗CKD。
{"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":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}
Pub Date : 2023-02-01Epub Date: 2023-10-10DOI: 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
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.
{"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":"<p><p><b>Background:</b> 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.<b>Aim:</b> This study aimed to generate allele frequencies and population genetic data for 44 autosomal STR loci from SureID<sup>®</sup> PanGlobal and 27comp kits in English and Irish populations for forensic casework, human identification, and kinship testing.<b>Subjects and methods:</b> 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.<b>Results:</b> 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.<b>Conclusions:</b> The SureID<sup>®</sup> 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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"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}
Pub Date : 2023-02-01Epub Date: 2023-10-11DOI: 10.1080/03014460.2023.2259242
Jianan Li, Ling Qi, Yuxin Chen, Haoming Lv, Haoran Bi
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.
{"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":"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>To study the molecular mechanism of AD induced by triazine herbicides.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>Our results suggest that combined exposure to triazine herbicides might promote the development of AD, thereby providing new insights for the prevention of AD.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"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}
Pub Date : 2023-02-01DOI: 10.1080/03014460.2023.2213478
Yequan Wang, Ao Gao, Xiudi Hou, Qi Liu, Dan Wang, Zhen Dang
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.
{"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":"<p><strong>Background: </strong>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.</p><p><strong>Aim: </strong>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.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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)<sub>Krüger</sub>, MEC<sub>Kishida</sub>, MEC<sub>Desmarais</sub>, and MEC<sub>Desmarais Duos</sub> 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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"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}
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.
{"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":"<p><strong>Background: </strong>Reference ranges for bone turnover markers (BTMs) are still lacking in the healthy Chinese population.</p><p><strong>Aim: </strong>To establish reference intervals for BTMs and to investigate the correlations between BTMs and bone mineral density (BMD) in Chinese older adults.</p><p><strong>Subjects and methods: </strong>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.</p><p><strong>Results: </strong>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 <i>p</i> < .05).</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"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}
Pub Date : 2023-02-01Epub Date: 2023-10-09DOI: 10.1080/03014460.2023.2264769
Zdenko Červenák, Filip Červenák, Andrej Choma, Marián Baldovič, Soňa Masnicová
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.
{"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":"<p><p><b>Background:</b> 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.<b>Aim:</b> To create an informative set of Slovak population data concerning X-STR markers.<b>Subjects and methods:</b> 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.<b>Results:</b> 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 F<sub>ST</sub> values in any LG, except for LG2 in comparison with the German population.<b>Conclusion:</b> 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.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"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}
Context: A comprehensive meta-analysis was carried out to investigate the impact of orthodontics on masticatory muscles.Methods: A thorough search of various databases, including CNKI, Wan Fang, VIP, CBM, MEDLINE, PubMed, Cochrane Library, EMBASE, Web of Science, and Google Scholar, was performed to identify relevant studies on patients undergoing orthodontics or functional corrections. Six case-control studies were finally included in this analysis, which specifically examined the effect of orthodontic treatment on masticatory muscle function.Results: The results revealed that the mean masticatory muscle voltage in patients treated with orthodontics was found to be higher after treatment compared to before treatment [odds ratio (OR)=1.57, 95% confidence interval (CI) (0.57, 2.57), p = 0.002], which could potentially have an impact on masticatory muscle function, particularly in individuals with Class II Division 1 malocclusion.Conclusion: These findings contribute to our understanding of the effects of orthodontic interventions on masticatory muscles, further highlighting the importance of orthodontics in optimising masticatory function.
背景:进行了一项全面的荟萃分析,以研究正畸对咀嚼肌的影响。方法:对CNKI、万方、VIP、CBM、MEDLINE、PubMed、Cochrane Library、EMBASE、Web of Science和Google Scholar等数据库进行全面检索,以确定对接受正畸或功能矫正的患者的相关研究。本分析最终纳入了六项病例对照研究,专门研究了正畸治疗对咀嚼肌功能的影响。结果:结果显示,接受正畸治疗的患者在治疗后的平均咀嚼肌电压高于治疗前[比值比(OR)=1.57,95%置信区间(CI)(0.57,2.57),p = 0.002],这可能对咀嚼肌功能产生潜在影响,尤其是对II类1类错牙合患者。结论:这些发现有助于我们理解正畸干预对咀嚼肌的影响,进一步强调正畸在优化咀嚼功能方面的重要性。
{"title":"Effects of orthodontic treatment on masticatory muscles activity: a meta-analysis.","authors":"Yuxiang Zhan, Minjie Yang, Shuoqiu Bai, Siqin Zhang, Yunqin Huang, Fansheng Gong, Xiaolin Nong","doi":"10.1080/03014460.2023.2271840","DOIUrl":"https://doi.org/10.1080/03014460.2023.2271840","url":null,"abstract":"<p><p><b>Context:</b> A comprehensive meta-analysis was carried out to investigate the impact of orthodontics on masticatory muscles.<b>Methods:</b> A thorough search of various databases, including CNKI, Wan Fang, VIP, CBM, MEDLINE, PubMed, Cochrane Library, EMBASE, Web of Science, and Google Scholar, was performed to identify relevant studies on patients undergoing orthodontics or functional corrections. Six case-control studies were finally included in this analysis, which specifically examined the effect of orthodontic treatment on masticatory muscle function.<b>Results:</b> The results revealed that the mean masticatory muscle voltage in patients treated with orthodontics was found to be higher after treatment compared to before treatment [odds ratio (OR)=1.57, 95% confidence interval (CI) (0.57, 2.57), <i>p</i> = 0.002], which could potentially have an impact on masticatory muscle function, particularly in individuals with Class II Division 1 malocclusion.<b>Conclusion:</b> These findings contribute to our understanding of the effects of orthodontic interventions on masticatory muscles, further highlighting the importance of orthodontics in optimising masticatory function.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71488504","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}
Pub Date : 2023-02-01DOI: 10.1080/03014460.2023.2168755
Xueke Yang, Lijing Xi, Zhaoyan Guo, Li Liu, Zhiguang Ping
Context: The relationship between cadmium (Cd) and the cognition of the elderly is indistinct.Objective: To summarise the studies on the relationship between the cognition of the elderly and Cd.Methods: Literatures were searched in PubMed, Web of Science, China National Knowledge Infrastructure (CNKI), and Wan fang database on April 25, 2022. The entries in the STROBE statement were used to evaluate the literature quality; all the quantitative studies that met the requirements were systematically summarised.Results: Blood Cd was negatively correlated with the cognitive ability of the elderly, corresponding to different cognitive ability assessment methods, the regression coefficients were: -0.11 (-0.20, -0.03), -0.46 (-0.71, -0.21), -0.54 (-0.90, -0.17), -0.19 (-0.37, -0.01), and -2.29 (-3.41, -1.16). The regression coefficients between urinary Cd level and cognition score were -1.42 (-2.38, -0.46), and 0.76 (-1.28, -0.23). When dietary Cd increased by 1 μg/kg, the composite z-score decreased by 3.64 (p = 0.001). There was no significant correlation between drinking water Cd, fingernail Cd and cognition (p > 0.05).Conclusion: We concluded that blood Cd (including whole blood and plasma), urine Cd and dietary Cd were negatively correlated with the cognition of the elderly, but the relationship between Cd in drinking water and fingernails and cognition was not statistically significant.
背景:镉(Cd)与老年人认知的关系尚不明确。目的:总结老年人认知与cd关系的研究。方法:检索PubMed、Web of Science、中国知网(CNKI)和万方数据库,检索时间为2022年4月25日。采用STROBE语句中的条目评价文献质量;系统总结了所有符合要求的定量研究。结果:血Cd与老年人认知能力呈负相关,对应不同认知能力评估方法,回归系数分别为-0.11(-0.20,-0.03)、-0.46(-0.71,-0.21)、-0.54(-0.90,-0.17)、-0.19(-0.37,-0.01)、-2.29(-3.41,-1.16)。尿Cd水平与认知评分的回归系数分别为-1.42(-2.38,-0.46)和0.76(-1.28,-0.23)。饲粮镉每增加1 μg/kg,复合z评分降低3.64分(p = 0.001)。饮水Cd、指甲Cd与认知无显著相关(p > 0.05)。结论:血Cd(包括全血和血浆)、尿Cd和膳食Cd与老年人认知水平呈负相关,而饮用水和指甲中Cd与认知水平的关系无统计学意义。
{"title":"The relationship between cadmium and cognition in the elderly: a systematic review.","authors":"Xueke Yang, Lijing Xi, Zhaoyan Guo, Li Liu, Zhiguang Ping","doi":"10.1080/03014460.2023.2168755","DOIUrl":"https://doi.org/10.1080/03014460.2023.2168755","url":null,"abstract":"<p><p><b>Context:</b> The relationship between cadmium (Cd) and the cognition of the elderly is indistinct.<b>Objective:</b> To summarise the studies on the relationship between the cognition of the elderly and Cd.<b>Methods:</b> Literatures were searched in PubMed, Web of Science, China National Knowledge Infrastructure (CNKI), and Wan fang database on April 25, 2022. The entries in the STROBE statement were used to evaluate the literature quality; all the quantitative studies that met the requirements were systematically summarised.<b>Results:</b> Blood Cd was negatively correlated with the cognitive ability of the elderly, corresponding to different cognitive ability assessment methods, the regression coefficients were: -0.11 (-0.20, -0.03), -0.46 (-0.71, -0.21), -0.54 (-0.90, -0.17), -0.19 (-0.37, -0.01), and -2.29 (-3.41, -1.16). The regression coefficients between urinary Cd level and cognition score were -1.42 (-2.38, -0.46), and 0.76 (-1.28, -0.23). When dietary Cd increased by 1 μg/kg, the composite z-score decreased by 3.64 (<i>p</i> = 0.001). There was no significant correlation between drinking water Cd, fingernail Cd and cognition (<i>p</i> > 0.05).<b>Conclusion:</b> We concluded that blood Cd (including whole blood and plasma), urine Cd and dietary Cd were negatively correlated with the cognition of the elderly, but the relationship between Cd in drinking water and fingernails and cognition was not statistically significant.</p>","PeriodicalId":50765,"journal":{"name":"Annals of Human Biology","volume":null,"pages":null},"PeriodicalIF":1.7,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9332007","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}