Annals of Human Biology最新文献

Background: Y-chromosome haplogroup C2a-M48-F8472, a unique paternal line in the ancient Xiongnu population, is concentrated in the modern Han people. The most closely related lineage of this paternal lineage is mainly distributed in Tungusic-, Mongolic-, and Turkic-speaking populations.

Aim: To investigate the formation process of this unique distribution state.

Subjects and methods: In total, 36 sequences of haplogroup C2a-M48-F8472 were analysed to generate a revised phylogenetic tree with age estimation and to explore the geographic distribution pattern.

Results: The results suggested that northern China is likely the diffusion centre of this paternal haplogroup. This lineage is concentrated in the Liu clan () of Han populations and may have originated in the Tuge tribe () of Xiongnu populations. The initial expansion (∼2,600 years ago) and the second phase of expansion (∼1,570 years ago) of haplogroup C2a-M48-F8472 coincide with the earlier appearance and later disappearance of the Tuge tribe. As a sub-clade of M48, the history of F8472 suggested that ancient peoples related to Tungusic-speaking populations were intricately connected with the demographic history of populations in the Mongolian Plateau.

Conclusion: The appearance of this paternal line in the Han population is helpful for understanding the mixed history of ancient and modern people in the Mongolian Plateau and Central China.

Background: At present, there are no available genetic data on the AGCU EX22 Kit from the Wuhu Han population.

Aim: This study investigates the applicability of the AGCU EX22 kit, designed for the Chinese population for forensic analysis and population genetics of the Wuhu Han population.

Subjects and methods: Bloodstains from 1565 unrelated healthy individuals in Wuhu city, Anhui Province, were collected for analysis. The AGCU EX22 kit was used for amplification, and capillary electrophoresis was used to separate the amplification products. Allele frequencies and forensic parameters were determined. The Wuhu Han population was compared to 10 reference populations through genetic distance, a phylogenetic neighbor-joining tree and principal component analysis.

Results: In total, 281 alleles and 1187 genotypes were observed. No significant deviations from Hardy-Weinberg equilibrium at any locus were found after Bonferroni's correction. The 21 autosomal short tandem repeat (STR) genetic markers exhibited high informativeness and polymorphism. The cumulative power of discrimination and power of exclusion were 0.999999999999999999999999913380 and 0.999999996752339, respectively. Population comparisons revealed a genetic affinity between Wuhu Han and southern Han populations, except for the Guangdong Han population, which aligned with the traditional geographical division in China.

Conclusion: The AGCU EX22 Kit, containing 21 STR loci, is suitable for forensic application and population genetics studies in the Wuhu Han population.

Background: As a new kind of diallelic genetic marker, insertion/deletion (InDel) polymorphisms have recently been used in forensic science. However, there are relatively few studies on the forensic evaluation of InDel genetic polymorphisms from different populations.

Aim: The aim of the present work is to assess the genetic polymorphism and forensic applicability of 57 InDels from the Yi ethnic group and explore the genetic background of this group.

Subjects and methods: A total sample of 122 unrelated individuals of Yi group from the Yunnan province were genotyped by the AGCU indel 60 Kit. Multiplex population genetic analyses on the same 57 InDels were carried out among the Yunnan Yi group and 29 reference populations.

Results: The average allele frequency of these loci in the Yi ethnic group was 0.485. Heterozygosity, polymorphism information content, and the power of discrimination were 0.477, 0.362, and 0.612, respectively. The combined power of discrimination and the combined power of exclusion reached to 0.99999999999999999669 and 0.999962965, respectively. The results showed that 57 InDels polymorphisms have high genetic polymorphisms in the Yi ethnic group.

Conclusions: The 57 InDels could be used for forensic individual identification, paternity testing, and intercontinental population discrimination, with the potential for use in biogeographic ancestry inference.

Background: Stroke occurs when the blood supply to part of the cerebral cortex is blocked, depriving it of oxygen and glucose, leading to cell death. It is a multifactorial disorder influenced by genetic, vascular, and environmental factors.

Aim: This study investigated the association between two polymorphisms of the brain-derived neurotrophic factor (BDNF) gene, rs6265 and rs11030119, and stroke risk in a South Indian population.

Subjects and methods: The study included 163 stroke cases and 160 healthy controls. Genomic DNA was extracted, and genotyping of rs6265 and rs11030119 polymorphisms was done using ARMS-PCR. Allelic and genotype frequencies were calculated, and odds ratios (OR) with 95% confidence intervals (CI) were determined using SPSS version 21.0.

Results: The rs6265 polymorphism was significantly associated with stroke risk, with the GG genotype more frequent in controls (OR 1.79, 95% CI 1.05-1.76, p = 0.01). The rs11030119 polymorphism showed a positive association, with the AA genotype more prevalent in cases (OR 2.70, 95% CI 1.34-5.44, p = 0.003).

Conclusion: This study suggests an association between BDNF polymorphisms (rs6265, rs11030119) and stroke risk in a South Indian population. Further research in larger populations is necessary to confirm these findings and explore the mechanisms involved.

Background: Osteoarthritis (OA) is a common chronic joint disease that significantly affects an individual's quality-of-life and frailty has become one of the common complications in OA patients as the disease progresses. The relationship between dietary patterns is not clear.

Methods: All participants are from the National Health and Nutrition Examination Survey (NHANES) and have been diagnosed with OA. The dietary inflammation index (DII) is calculated based on the dietary intake reported by the participants. Logistic regression analysis is used to investigate the relationship between DII and frailty. Restricted cubic splines are utilised to explore their nonlinear relationship. Mediation analysis is conducted to explore the role of inflammation in this relationship.

Results: A total of 2,530 OA patients were included in the study, with an average age of 64.46 (12.67) years. After adjusting for covariates, for each one standard deviation increase in DII, the risk of frailty increased by 15% (OR = 1.15, 95% CI = 1.03-1.28). Compared to patients with DII < -1, patients with DII > 1 had a significantly higher risk of frailty (OR = 1.50, 95% CI = 1.05-2.14).

Conclusions: The findings of this study indicate a positive association between DII and the risk of frailty in OA patients. These results underscore the potential impact of dietary interventions in improving the quality-of-life for OA patients.

Background: Genome-wide association studies of COVID-19 severity have been carried out mostly on European or East Asian populations with small representation of other world regions. Here we explore the worldwide distribution and linkage disequilibrium (LD) patterns of genetic variants previously associated with COVID-19 severity.

Methods: We followed up the results of a large Spanish genome-wide meta-analysis on 26 populations from the 1000 Genomes Project by calculating allele frequencies and LD scores of the nine most significant SNPs. We also used the entire set of summary statistics to compute polygenic risk scores (PRSs) and carried out comparisons at the population and continental level.

Results: We observed the strongest differences among continental regions for the five top SNPs in chromosome 3. European, American, and South Asian populations showed similar LD patterns. Average PRSs in South Asian and American populations were consistently higher than those observed in Europeans. While PRS distributions were similar among South Asians, the American populations showed striking differences among them.

Conclusions: Considering the caveats of PRS transferability across ethnicities, our analysis showed that American populations present the highest genetic risk score, hence potentially higher propensity, for COVID-19 severity. Independent validation is warranted with additional summary statistics and phenotype data.

Background: Rising global obesity rates are linked with inflammation and associated morbidities. These negative outcomes are generally more common in low-resource communities within high-income countries; however, it is unclear how frequent infectious disease exposures in these settings may influence the relationship between adiposity and inflammation.

Aim: We test associations between adiposity measures and distinct forms of inflammation among adults (n = 80) living in low-resource U.S. communities experiencing high levels of obesity and pathogen exposure.

Subjects and methods: Adiposity measures included BMI and percent body fat. Inflammation measures included systemic inflammation (C-reactive protein [CRP]) and localised intestinal inflammation (faecal calprotectin [FC]). The relationship between a condition characterised by elevated inflammation (Helicobacter pylori infection) and adiposity was also considered.

Results: Adiposity was not significantly related to FC concentration. However, both adiposity measures were positively related with odds of CRP elevation and H. pylori infection was associated with significantly lower adiposity measures (all p < 0.05).

Conclusion: For this disadvantaged U.S. sample, the association between adiposity and inflammation varies by the systemic/localised nature of inflammation and the likely underlying cause of inflammation. Defining these associations will improve understanding of how rising obesity rates shape long-term health inequities, with implications for more effective intervention design.