Annals of Human Biology

BACKGROUND: The causal association between particulate matter 2.5 (PM2.5) and Alzheimer's disease (AD) remains inconclusive, and the mediators of the association have yet to be explored. AIMS: We aimed to assess the potential causal relationship between PM2.5 and AD, and to investigate the mediating role of dehydroepiandrosterone sulphate (DHEAS). SUBJECTS AND METHODS: We implemented a two-sample Mendelian randomisation (MR) study to examine the genetic predisposition to PM2...

BACKGROUND: Chronic hepatitis B virus (HBV) infection is a severe disease affecting the physical and economic well-being of patients. The relationship between polymorphisms in the MTHFR gene and disease progression following HBV infection remains a controversial topic. AIM: To study MTHFR and MTRR gene polymorphisms in patients with chronic HBV infections in Zigong, Sichuan Province. SUBJECTS AND METHODS: One hundred and ninety-one patients with chronic HBV infections were divided into three groups: the chronic hepatitis B (CHB) group ( n  = 71), the hepatitis B-induced liver cirrhosis (LC) group ( n  = 56), and the hepatitis B-related primary liver cancer (PLC) group ( n  = 64)...

BACKGROUND: Pastoralists live in challenging environments, which may be accompanied by unique activity, energy, and water requirements. AIM: Few studies have examined whether the demands of pastoralism contribute to differences in total energy expenditure (TEE) and water turnover (WT) compared to other lifestyles. SUBJECTS AND METHODS: Accelerometer-derived physical activity, doubly labelled water-derived TEE and WT, and anthropometric data were collected for 34 semi-nomadic Daasanach adults from three northern Kenyan communities with different levels of pastoralist activity...

BACKGROUND: Six Homo naledi early juveniles were recovered from U.W. 101 (Dinaledi Chamber), U.W. 102 (Lesedi Chamber), and U.W. 110 in the Rising Star cave system. AIM: This paper develops the information for the H. naledi early juvenile life stage, as defined by a combination of deciduous and permanent dentition, and the eruption of the first permanent molar. SUBJECTS AND METHODS: The growing number of young individuals recovered from the Rising Star cave system allows us to gain a better understanding of their variation, or lack thereof, and provides a basis to estimate broad ranges for age at death of the individuals...

BACKGROUND: Knowledge about the influence of early developmental factors on cardiometabolic health in the Maya is limited. AIM: To analyse the relationship between birthweight (BW) and cardiometabolic parameters in a sample of rural Maya children from Yucatan, Mexico. SUBJECTS AND METHODS: We took anthropometric measurements and obtained data on BW and fasting blood samples in a sample of 75 children aged 5-14 years. Dependent variables were: fat mass index (FMI), body mass index (BMI), glucose (G), triglycerides (TG), total cholesterol (TC), high-density lipoprotein cholesterol (HDL), low-density lipoprotein cholesterol (LDL), LDL/HDL and TC/HDL ratios and metabolic index (TGxG/HDL2 )...

BACKGROUND: Colombia has a mestizo population and the prevalence of haemoglobin variants varies according to each region, but heterozygous carriers can be found in all of them. AIM: To characterise sickle cell disease (SCD) haematologically, biochemically, and molecularly, and detect classic haplotypes by DNA sequencing in a group of samples from Bolívar, Colombia. SUBJECTS AND METHODS: Blood samples were collected after informed consent from volunteers from eight communities in the Bolívar department, plus samples from the Pacific region, Providencia Island, and Bogotá were included...

BACKGROUND: Very low birthweight (VLBW) infants are at risk for growth failure and poor neurodevelopment. Optimised parenteral nutrition may help promote optimal growth and development, but concerns that provision of enhanced nutrition may contribute to increased early adiposity and later metabolic disease remain. AIM: To determine associations between provision of an early enhanced parenteral nutrition protocol or standard parenteral nutrition protocol and growth and body composition for VLBW preterm infants in the neonatal intensive care unit...

BACKGROUND: Lack of paediatric reference data limits the utility of handgrip strength as a measure of fitness and well-being. AIM: To develop paediatric handgrip reference curves and evaluate associations with body size and composition and race/ethnicity group. SUBJECTS AND METHODS: Handgrip, body size and composition data were obtained from National Health and Nutrition Examination Survey 2011-2014 participants aged 6-20 years. Densitometry-derived fat and appendicular lean soft tissue mass index Z-scores (FMIZ, ALSTMIZ) were generated in participants >8 years...

BACKGROUND: Motor performances of youth are related to growth and maturity status, among other factors. AIM: To estimate the contribution of skeletal maturity status per se to the motor performances of female athletes aged 10-15 years and the mediation effects of growth status on the relationships. SUBJECTS AND METHODS: Skeletal age (TW3 RUS SA), body size, proportions, estimated fat-free mass (FFM), motor performances, training history and participation motivation were assessed in 80 non-skeletally mature female participants in several sports...

Background: Iron deficiency is one of the leading causes of anaemia, with those most affected being children and women of childbearing age, in Brazil there is a scarcity of studies involving the local prevalence of anaemia. Aim: To evaluate anaemia and associated factors in schoolchildren in Santa Cruz do Sul through the analysis of biochemical and haematological markers and parasitological examination of faeces. Subjects and methods: School children from 10 to 12 years of age were evaluated through complete blood count, serum ferritin, C-reactive protein and stool parasitological examination, as well as socio-demographic characteristics and prophylaxis with ferrous sulphate in childhood...

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...

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...

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 BMD in Chinese older adults. SUBJECTS AND METHODS: A community-based cross-sectional study was conducted among 2,511 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...

Background:  Previous studies of the genetic polymorphism of the Y-chromosomal short tandem repeat (Y-STR) of Huis were focused on the northwest of China. However, the population genetic characteristics of Chinese Hui residing in Yunnan province, Southwest China, remain unclear. Aim : To provide genetic data for 37 Y-STRs in the Chinese Hui population of Yunnan province, as well as to investigate population genetic relationships between the Chinese Hui and another 26 populations from China and neighbouring countries...

BACKGROUND: Hypertension and osteoporosis are the most common types of health problems. A recent study suggested that the fibroblast growth factor receptor-like protein 1 ( FGFRL1 ) gene in giraffes is the most promising candidate gene that may have direct effects on both the skeleton and the cardiovascular system. AIM: Our study purposed to replicate the finding that the FGFR5 gene is related to giraffe-related characteristics (height, hypertension, and osteoporosis), and to assess the associations between genetic variants of the FGFR family and three phenotypes...

AIM: To assess the growth status of North Korean refugee adolescents (NKRA) living in South Korea (SK) and compared 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 2016-2018 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...

BACKGROUND: The fine-scale genetic profiles and population history of Manchus and Koreans remain unclear. AIM: To infer a fine-scale genetic structure and admixture of Manchu and Korean populations. SUBJECTS AND METHODS: We collected and genotyped 16 Manchus from Liaoning and 18 Koreans from Jilin province with about 700K genome-wide SNPs. We analysed the data using principal component analysis (PCA), ADMIXTURE, Fst, TreeMix, f -statistics, qpWave , and qpAdm ...

We analysed the forensic characteristics and substructure of the Handan Han population based on 36 Y-STR (short tandem repeat) and Y-SNP (single nucleotide polymorphism) markers. The two most dominant haplogroups in Handan Han, O2a2b1a1a1-F8 (17.95%) and O2a2b1a2a1a (21.51%), and their abundant downstream branches, reflected the strong expansion of the precursor of the Hans in Handan. The present results enrich the forensic database and explore the genetic relationships between Handan Han and other neighbouring and/or linguistically close populations, which suggests that the current concise overview of the Han intricate substructure remains oversimplified...

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...

BACKGROUND: Alu insertions are bi-allelic and primate-specific, this makes them a useful marker for studying genetic variation, migration patterns, forensic analyses, paternity, and evolutionary heritage, however, specific population studies are limited. AIM: The objective of this study is to document the level and extent of genetic variation at 39 different Alu loci in 5 populations (British, Indian Punjabi, Indian Gujarati, Pakistani, and Bangladeshi) from the East Midlands region of the UK...