Genetic Diversity Based on Human Y Chromosome Analysis: A Bibliometric Review Between 2014 and 2023.

The Y chromosome has gained significant importance in the examination of genetic studies of populations because of its non-recombinant character and its form of uniparental inheritance. This work seeks to offer a comprehensive review of the specialty literature in the field of population genetics, focusing specifically on the analysis of the human Y chromosome using a bibliometric approach and knowledge mapping. This involves establishing worldwide structural networks by identifying the primary research themes, authors, and papers that have had a significant impact on the academic community. The objective is to examine global publications by analyzing citations at both the document and country level. This will involve conducting co-citation analysis for references with a high number of citations, examining bibliographic coupling through journal analysis, analyzing the co-occurrence of keywords, and investigating collaboration between authors from a country perspective. The research papers have been extracted from the Web of Science database. The bibliometric analysis was performed using the Bibliometrix and VOSviewer software tools. The purpose of this article is to serve as a starting point for future research dedicated to the analysis of the diversity of human Y chromosome haplotypes. The objectives of the study were to identify and present the most cited publications and references with the highest number of citations, and to highlight current publications at the national level.

Genetic Diversity Based on the Analysis of 27 Y- Short Tandem Repetition (STR) Loci in Two Populations in the Apuseni Mountains, Romania.

BACKGROUND: Y chromosome analysis is used in various fields of forensic genetics, genetic genealogy, and evolutionary research, due to its unique characteristics. Short tandem repetitions (STR) are particularly relevant in population genetic studies. The aim of this study is to analyze the genetic profile of two populations in the Apuseni Mountains area, Baița and Roșia Montana, Romania. METHODS: 27 STR loci of the Y chromosome were analyzed to investigate the genetic profile of two populations from the Apuseni Mountains area. Investigating genetic diversity by analyzing allele frequency, haplotype frequency, calculating forensic parameters, and presenting the main haplogroups identified based on Y-STR markers. RESULTS: Gene diversity in the batch from Baița varies from 0.515 for the DYS393 locus to 0.947 for the DYS385 locus. In the Roșia Montana population, gene diversity ranges from 0.432 for DYS393 to 0.931 for DYS385. The haplotype diversity in Roșia Montana was 0.991, and the haplotype diversity was 1.000 in the population from Baița. A total of nine haplogroups was identified in the batch from Baița, while only seven haplogroups were observed in the batch from Roșia Montana. Both groups are based on the same five major haplogroups (E, G, I, J, and R) and the most common haplogroup is R1b in both populations. CONCLUSION: In this study, the genetic diversity of two distinct populations was assessed using genetic analyses based on different markers. Analysis of Y-STR profiles revealed significant genetic diversity in both studied groups. All haplogroups identified were similar to those present in other Romanian populations.

Prediction of NAFLD occurrence in prediabetes patients.

Non-alcoholic fatty liver disease (NAFLD) is a component of metabolic syndrome that significantly increases the cardiovascular risk of patients with glucose metabolism alterations. This study identified the prevalence of NAFLD, predictors of NAFLD and explored the link between insulin sensitivity, insulin resistance and leptinemia in 143 patients registered with prediabetes. Abdominal ultrasound was performed, and fasting insulin, postprandial insulin, leptin levels, common clinical/biochemical determinations were assessed. Certain variables that can predict NAFLD existence were determined and it was found that there is a high prevalence of NAFLD in patients with prediabetes. In univariate analysis, statistically significant associations (P<0.05) were found between waist circumference, systolic blood pressure, diastolic blood pressure, triglycerides, HDL-cholesterol, insulin sensitivity, ß-cell function, leptin and NAFLD presence. The coefficients for the variables which obtain statistically significant association (P<0.05) are low, except for leptin which is the biochemical parameter that (in both univariate and multivariate analysis) is a strong predictor of NAFLD presence.