Annals of Human Biology最新文献

Background: Organic anion-transporting polypeptide 1B1 (OATP1B1) and the ATP-binding cassette subfamily G member 2, ABCG2, are important transporters involved in the transport of endogenous substrates and xenobiotics, including drugs. Genetic polymorphisms of these transporters have effect on transporter activity. There is significant interethnic variability in the frequency of allele variants.

Aim: To determined allele and genotype frequencies of ABCG2 and SLCO1B1 genes in Croatian populations of European descent.

Subjects and methods: A total of 905 subjects (482 women) were included. Genotyping for ABCG2 c.421C > A (rs2231142) and for SLCO1B1 c.521T > C (rs4149056), was performed by real-time polymerase chain reaction (PCR) using TaqMan^® DME Genotyping Assays.

Results: For ABCG2 c.421C > A, the frequency of CC, CA and AA genotypes was 81.4%, 17.8% and 0.8% respectively. The frequency of variant ABCG2 421 A allele was 9.7%. For SLCO1B1 c.521T > C, the frequency of TT, TC and CC genotypes was 61.7%, 34.8% and 3.5% respectively. The frequency of variant SLCO1B1 521 C allele was 20.9%.

Conclusion: The frequency of the ABCG2 and SLCO1B1 allelic variants and genotypes in the Croatian population is in accordance with other European populations. Pharmacogenetic analysis can serve to individualise drug therapy and minimise the risk of developing adverse drug reactions.

Background: Body mass index (BMI) is a widely used surrogate tool to screen for obesity/adiposity, but it cannot differentiate between lean and fat mass. Thus, alternative tools to detect excess adiposity should be identified.

Aim: This study aimed to compare the performance of BMI, waist circumference (WC) and waist-to-height ratio (WtHR) in predicting Malaysians with excess body fat defined by dual-energy X-ray absorptiometry (DXA).

Subjects and methods: A total of 399 men and women aged ≥40 years were recruited from Klang Valley, Malaysia. The body composition of the subjects, including body fat percentage, was measured by DXA. The weight, height, WC and WHtR of the subjects were also determined.

Results: BMI [sensitivity = 55.7%, specificity = 86.1%, area under curve (AUC) = 0.709] and WC (sensitivity = 62.7%, specificity = 90.3%, AUC = 0.765) performed moderately in predicting excess adiposity. Their performance and sensitivity improved with lower cut-off values. The performance of WHtR (sensitivity = 96.6%, specificity = 36.1, AUC = 0.664) was optimal at the standard cut-off value and no modification was required.

Conclusion: The performance of WC in identifying excess adiposity was greater than BMI and WHtR based on AUC values. Modification of cut-off values for BMI and WC could improve their performance and should be considered by healthcare providers in screening individuals with excess adiposity.

Background: Dong people in Southwest China are officially recognised as an ethnic group, but there has been a lack of population genetic research on this group, especially based on mitochondrial DNA data.

Aim: To study the sequences and haplogroups of the mitochondrial DNA control region in a typical Dong population, and to provide help for the construction of a forensic mitochondrial DNA analysis reference database in East Asia.

Subjects and methods: The sequences of the mitochondrial DNA control region were analysed in 200 individuals of Dong in Guizhou. The haplotype frequencies, haplogroup distribution and paired Fst values of Guizhou Dong and 51 other populations in the world were calculated and explained to explore the genetic polymorphism and population relationships.

Results: A total of 180 haplotypes were detected, with frequencies of 0.005-0.02. All haplotypes were assigned to 97 different haplogroups. The haplotype diversity and random matching probability were 0.998643 and 0.00635, respectively. The paired Fst values and correlation p values of 52 populations showed that the Guizhou Dong had the closest genetic relationship with the Henan Han and the Guizhou Miao in China, and were closest to the Punjab population in Pakistan and the Kashmiri population when compared with the world populations.

Conclusions: Our study was based on the matrilineal genetic structure of Guizhou Dong to study mitochondrial DNA, which was helpful to promote the establishment of the forensic DNA reference database in East Asia and provide reference for anthropological research.

Background: Plasminogen activator inhibitor 1 (PAI-1) and resistin are associated with dysfunctional adipose tissue (AT)-related metabolic complications. The role of dietary eicosapentaenoic (EPA) and docosahexaenoic (DHA) fatty acids in this relationship is unknown.

Aim: To investigate the association of EPA and DHA with PAI-1 and resistin, as well as the role of this association on the glucose metabolism of apparently healthy subjects.

Subjects and methods: Thirty-six healthy individuals were included. Validated food frequency questionnaires were used to analyse dietary habits. Inflammatory and glucose metabolism markers were quantified. Subcutaneous AT samples were obtained, and adipocyte number, area, and macrophage content were assessed.

Results: In 36 subjects aged 56 ± 8 years and with a body mass index of 26 ± 4 kg/m², _logEPA, and _logDHA showed significant association with _logresistin and a marginal association with PAI-1. Adipocyte number, area, and _lognumber of macrophages per adipocyte significantly correlated with PAI-1 but not with _logresistin. Although _logEPA and _logDHA were independently associated with _loginsulin, _loginsulin resistance, and C-Peptide, the addition of _logresistin, but not of PAI-1, into the multivariable model, abolished the associations.

Conclusions: EPA and DHA could modulate glucose metabolism across AT functional states. Our data indicate that this association is independent of other metabolic risk factors.

Background: Tunisia has a complex demographic history of migrations from within Africa, Europe, and the Middle East. However, only one population study based on X-STR markers has been reported so far.

Aim: To investigate the genetic polymorphisms of 17 X-STRs in two Tunisian populations from the cities of Sousse and Makthar, and to reveal the genetic relationships with other reference populations.

Subjects and methods: A total of 194 unrelated healthy individuals were analysed for 17 X-STR markers.

Results: Our results indicate that DXS6809 is the most polymorphic locus, whereas DXS6807 is the least informative marker in the populations of Sousse and Makthar. In addition, forensic statistical parameters, such as the power of discrimination in males and females, as well as the mean of exclusion in duos and trios, reveal that the panel of 17 X-STRs is highly informative and useful in different forensic applications. Overall, pairwise genetic distances (Fst) and non-metric MDS plots demonstrate clustering of different populations according to their geographic locations and their historical relationships.

Conclusion: Overall, the study of X-STR markers of the Tunisian populations can help to promote the establishment of a forensic DNA reference database in Tunisia and provide reference for future anthropological research.

Background: Males have higher weight and length at birth than females.

Aim: To verify the influence of the Y chromosome and the action of intrauterine androgens on weight and length at birth of children with Disorders of Sex Development (DSD).

Subjects and methods: A cross-sectional and retrospective study. Patients with Turner syndrome (TS), complete (XX and XY), mixed (45,X/46,XY) and partial (XY) gonadal dysgenesis (GD), complete (CAIS) and partial (PAIS) androgen insensitivity syndromes and XX and XY congenital adrenal hyperplasia (CAH) were included. Weight and length at birth were evaluated.

Results: Weight and length at birth were lower in TS and mixed GD when compared to XY and XX DSD cases. In turn, patients with increased androgen action (117 cases) had higher weight and length at birth when compared to those with absent (108 cases) and decreased (68 cases) production/action. In birthweight, there was a negative influence of the 45,X/46,XY karyotype and a positive influence of increased androgen and gestational age. In birth length, there was a negative influence of the 45,X and 45,X/46,XY karyotypes and also a positive influence of increased androgen and gestational age.

Conclusions: The sex dimorphism of weight and length at birth could possibly be influenced by intrauterine androgenic action.

Background: Diabetes comprises a serious disease with significant growth in the number of cases in recent years. Here, we cover the gap in information between leptin (LEP) and type 1 diabetes in the Iranian population.

Aim: To recognise LEP G2548A and LEP receptor Q223R polymorphisms in Iranian people and their association with type 1 diabetes susceptibility.

Subjects and methods: Characteristics such as fasting blood sugar (FBS) were measured in 80 control non-diabetic individuals and 89 diabetic patients. Moreover, LEP G2548A and LEP receptor Q223R polymorphisms were genotyped using polymerase chain reaction-restriction fragment length polymorphism technique.

Results: The frequency of the A allele was nearly three times greater in diabetes patients than in the control group. In addition, in the diabetes group, the AA genotype was five times greater than in the control group (p < 0.01). Furthermore, AA and AA + AG genotype models had higher FBS levels than the GG + AG and GG genotype models, respectively (p < 0.01).

Conclusion: The LEP G2548A polymorphism could be related to type 1 diabetes susceptibility, but not LEPR Q223R polymorphism in the Iranian population. Importantly, further studies are essential to examine the impact of LEP G2548A and LEPR Q223R polymorphisms in the endocrinology area.

Background: The Va (also called "Wa") people are an ethnic minority living mainly in the southwest of Yunnan Province.

Aim: This study was conducted to obtain the genetic information and forensic statistical parameters of 15 autosomal short tandem repeat (STR) loci included in the AmpFlSTR^®Identifiler™ kit (Applied Biosystems, Foster City, CA) in the Yunnan Va population, with a view to enriching the genetic databases of the Chinese Va population.

Subjects and methods: A total of 508 unrelated Chinese Va individuals were genotyped with this 15 STR kit, the genetic polymorphisms and associated forensic parameters were calculated. The genetic relationships between Chinese Va and 26 other Chinese populations were also evaluated.

Results: All of the STR loci reached the Hardy-Weinberg equilibrium after Bonferroni correction. A total of 159 alleles were observed with allele frequencies ranging from 0.000984 to 0.606299. The combined discrimination power (CDP) and the cumulative probability of excluding (CPE) of the 15 STR loci were 0.999 999 999 999 999 988 126 and 0.999 995 734, respectively. Our results indicated that the geographically adjacent or ethnically close populations showed a higher genetic affinity.

Conclusions: The results of this study will enrich the forensic databases of the Chinese Va population and could be applied in forensic analysis.