Annals of Human Biology最新文献

Growth measurements are largely uninterpretable without comparison to a growth chart. Consequently, the characteristics of a growth chart become an integral component of the interpretation of growth measurements. The concepts of optimal growth and tempo are well recognised by auxologists, yet their implications for interpretation of growth measurements remain problematic. This narrative review discusses the concept of optimal growth and how it serves as a guiding principle in the development and use of growth charts. The challenges of operationalising tempo for growth assessment are also discussed. Illustrative examples highlight the importance of these two central concepts in the use and interpretation of growth measurements.

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.

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.

Background: Maturation of bones in the hand-wrist region varies among individuals of the same age and among world groups. Although some studies from Africa report differences to other ethnic groups, the lack of detailed bone-specific maturity data prevents meaningful comparisons.

Aim: The aim of this study was to describe bone-specific maturity for developing hand-wrist bones in individuals in Khartoum, Sudan.

Subjects and methods: The sample was selected from healthy patients attending a dental hospital in Khartoum with known age and ancestry (males = 280, females = 330; aged between 3 and 25 years). Bones were assessed from radiographs of the left hand and wrist after the Greulich and Pyle Atlas (1959). Median ages of attainment for bone stages were calculated using probit analysis for each stage in males and females separately.

Results: Maturity data for stages of the phalanges, metacarpals, carpals and radius and ulna in males and females are presented. Median ages in females were earlier compared to males for all stages. These results are largely earlier than previously published findings or where these could be calculated.

Conclusion: These results of individual maturity stages of phalanges, metacarpals, carpals and the distal epiphyses of the radius and ulna are useful to assess maturity in growing individuals from Sudan.

Background: Cardiovascular disease (CVD) has emerged as the most prevalent cause of death in India. Pro-protein Convertase Subtilisin/Kexin Type 9 (PCSK9) gene has been found to be associated with lipid levels and a biomarker for susceptibility of CVD.

Aim: To study the association of PCSK9 SNPs rs505151 & rs562556 and their haplotypes with CVDs in the Indian population.

Subjects & methods: The present study comprised of 102 angiographically proven CVD patients & 100 healthy subjects. To study polymorphism, Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) method was used. Biochemical parameters were analysed by enzymatic methods or automated analysers. Haplotype analysis was done using SHEsis software.

Results: The dominant genetic model with an odds ratio (confidence interval) of 4.71 (2.59 - 8.5), (p value = .0001), shows the risk of CVDs. However, rs562556 (I474V) variant was not found to be associated with clinical parameters and risk of CVDs (p value >.05). Out of four haplotypes, H3 (G-A) was found to be associated with the CVDs (OR- 3.137, p value = .0001).

Conclusion: This study concludes that G allele of rs505151 SNP (PCSK9) and the H3 (G-A) haplotype of rs505151 & rs562556 were found to be risk factors for CVDs in the Indian population.

Background: The Precision ID Ancestry Panel with 165 SNP markers was unable to differentiate between mainland Japanese and Okinawa Japanese or to distinguish either of them from other East Asian populations.

Aim: An Okinawa panel was developed with the aim of further separating Okinawa Japanese individuals from mainland Japanese and other Asian groups. Seventy-five SNPs were selected using the most informative markers from the literature. Further, 22 SNPs were selected to separate Okinawa Japanese at minimum SNPs.

Subjects and methods: Samples were collected from 48 unrelated individuals from mainland Japan and 46 unrelated residents of the Okinawa prefecture. Data were evaluated by STRUCTURE, principal component, and GenoGeographer analyses.

Results: The 22 SNP set had similar levels of differentiation in STRUCTURE and PCA analyses as the 75 SNP set. GenoGeographer analysis showed that, out of the 46 Okinawa Japanese individuals, the 75 SNP and 22 SNP sets correctly assigned the Okinawan population as the most likely population of origin for 32 and 31 individuals, respectively.

Conclusion: Neither SNP set could completely differentiate between Okinawa Japanese and other Asian groups, however, these sets should be useful for crime investigation, when the sample, cost and time are limited.

Background: Insertion/deletion polymorphism (InDel), as the third genetic marker, has been given a lot of attention by forensic geneticists since it has the advantages of extensive distributions in the human genome, small amplicon, and low mutation rate. However, the extant InDel panels were only viewed as supplemental tools for kinship analyses. In addition, these panels were not conductive to mixture deconvolution because InDels in these panels mainly displayed two alleles.

Aims: The purpose of this study is to investigate genetic distributions of a novel panel of InDels and STRs in the Guizhou Han population; assess the forensic application value of the panel; and conduct population genetic analyses of the Guizhou Han and other reference populations based on the overlapping loci.

Subjects and methods: The bloodstain samples of 209 Guizhou Han were gathered and genotyped by the novel panel. Allelic frequencies and forensic parameters of two miniSTRs and 59 InDels in the panel were estimated. In addition, we assessed phylogenetic relationships among the Guizhou Han and other reference populations by principal component analysis, D_A genetic distance, and neighbor-joining tree.

Results: A total of 139 alleles of 61 loci could be observed in the Guizhou Han population. Polymorphic information content values of 59 InDels were greater than 0.3 in the Guizhou Han population. The cumulative power of discrimination and probability of exclusion of two miniSTRs and 59 InDels in the Guizhou Han population were 0.999999999999999999999999997984 and 0.9999986, respectively. Principal component analysis of 14 populations showed that the Guizhou Han population located closer to Hunan Han and Southern Han Chinese (CHS) populations. Similar results were also discerned from D_A genetic distances and the neighbor-joining tree.

Conclusion: To sum up, the novel panel could be employed for forensic personal identification and paternity testing in the Guizhou Han population as a promising independent tool. Besides, the principal component analysis and phylogenetic tree of the Guizhou Han and other compared populations revealed that the Guizhou Han population possesses close genetic affinities with Hunan Han, CHS, and Han Chinese in Beijing (CHB) populations.

Background: Leg volume (LV) is an important reference in nutrition, physiology in exercise, or clinical diagnosis. Therefore, how to evaluate LV easily and quickly with accuracy is important in these areas.

Aim: To develop a simple anthropometric estimation formula with ease of use and good accuracy for leg volume (LV) of female labourers.

Subjects: One hundred and thirty female labourers (110 subjects for formula regression procedure and 20 subjects for the comparison phase) were recruited as subjects with no reported leg surgery history, trauma, or deformity.

Methods: A set of 3 D scanners was used to measure the range data of each subject's leg.

Results: The resultant LV estimation formula is LV = 0.215 × LL × CTH^1.620 with R² = 0.967, in which LL stands for leg length and CTH for circumference of thigh. Mean error of this LV estimation is 0.10% and much smaller than that of the previous study (25.11% with significant difference).

Conclusion: An anthropometric estimation formula for female labourers' leg volume was developed in this study. Estimation mean error of this formula is much smaller than the one in the previous study. This formula is easy to use and shows good accuracy in estimating female labourers' leg volume.

Aim: To assess the growth status of North Korean refugee adolescents (NKRA) living in South Korea (SK) and compare their growth status with that of SK adolescents (SKA).

Subjects and methods: NKRA were interviewed from 2017 to 2020, whereas the data for SKA were from the 2016 to 2018 Korea National Health and Nutrition Examination Surveys. SKA and NKRA were matched by age and gender in a 3:1 ratio and 534 SKA and 185 NKRA were enrolled.

Results: After adjusting for the covariates, NKRA had greater prevalences of thinness (odds ratio [OR], 11.5; 95% confidence interval [CI], 2.9-45.6) and obesity (OR, 12.0; 95% CI, 3.1-46.1) than SKA, but were not of short stature. In comparison with SKA in low-income families, NKRA had similarly greater prevalences of thinness and obesity, but not of short stature. As the length of stay of NKRA in SK increased, the prevalence of short stature and thinness did not decrease, while the prevalence of obesity increased significantly.

Conclusion: Although they had lived in SK for several years, NKRA had greater prevalences of thinness and obesity than SKA and the prevalence of obesity increased significantly with the length of stay in SK.