The human Y-chromosome haplogroup E-M81 is predominant in northwestern Africa and almost absent elsewhere, except for the Iberian Peninsula. In the present study, we investigated the internal branches of E-M81 (E1b1b1b1a) in 29 unrelated men from mainland Portugal. All individuals sampled carried the derived allele for the marker M183 (E1b1b1b1a1), and all but two had the derived allele for the marker SM001. Eleven individuals carried the derived allele for the marker Z5009 (E1b1b1b1a1c), and 16 were assigned to the paragroup E-SM001*(xZ5009, PF6794, CTS12227, M165, M5043). Median-joining networks based on seven Y-chromosome short tandem repeats (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393) showed 14 different haplotypes, revealing a clear star-like structure, with the common central haplotype distributed by the three different subclades identified (M183*, SM001*, and Z5009) encompassing the typical Maghrebin core haplotype in northern African populations. The relatively high frequency of the E-M81 lineage in mainland Portugal supports a North African Y-chromosomal contribution that may have occurred during the Islamic period in the country.

Population genetic studies have shown that the Bosnian-Herzegovinian (B&H) population is a part of the European gene pool, but there has been limited information on the genetic structure of ancient B&H populations. This study aimed to determine the frequency and distribution of mitochondrial DNA (mtDNA) haplogroups for a medieval Bosnian population. Thirty-four samples, excavated from medieval necropolises located within the borders of medieval Bosnia, were analyzed. Sequencing of the mtDNA hypervariable segment 1 (HVS1) region and RFLP analysis were performed for haplogroup determination. All 32 samples were identified as haplogroup H, with subhaplogroups H2a and H5 in 30 and 2 samples, respectively. The frequency of the H haplogroup was significantly different between the studied samples and previous studies of contemporary B&H populations, where the H haplogroup frequency was approximately half that of the ancient population studied here. A significant difference in H haplogroup frequency compared with other medieval populations outside of Bosnia was also observed: the ancient B&H population is most similar to ancient Italians. These results provide insight into the mitochondrial landscape of populations that inhabited the territory of present-day Bosnia and Herzegovina in the Middle Ages. Our study reveals that inhabitants of medieval Bosnia carried genetic lineages that exist today in B&H populations, suggesting continuity of mtDNA haplogroups over a long period of time, regardless of various historical demographic events that shaped the genetic structure of the modern B&H population.

Interferon-induced transmembrane protein 3 (IFITM3) plays a substantial role in the immune system by repressing viral entry into host cells and restricting virus replication. Recent research suggests that specific polymorphisms of the IFITM3 gene, rs34481144 and rs12252, contribute to susceptibility to viral infections across populations dependent on their population frequencies, which needs further clarification. This population-based study determined the prevalence of two regulator SNPs in the Turkish population and evaluated genotype and allele frequencies in individuals stratified into groups based on a pilot survey conducted during the COVID-19 pandemic. Tetra-Primer Arms PCR assays and Sanger sequencing methods were used to genotype rs34481144 and rs12252; all participants (n = 200) answered a questionnaire on individual experiences (e.g., disease severity, vaccine side effects) during the COVID-19 pandemic. Distributions of genotype frequencies and pairwise linkage disequilibrium correlations were calculated and compared to publicly available data from worldwide populations. The minor allele frequencies for rs12252-G and rs34481144-T were 0.128 and 0.324, respectively, in the total sample. Our preliminary survey data gave no concrete evidence of a correlation between the analyzed SNPs and COVID-19 severity or vaccine side effects yet pinpointed a trend for an association between rs12252-G and symptom burdens, which merits further investigation. Overall, our results present genotype and allele distributions of two IFITM3 polymorphisms in the Turkish population and provide preliminary data on previously suggested correlations of genotype with COVID-19 in our population.

The genetic variant rs10974944 (C>G) in the JAK2 gene is associated with a higher risk of myeloproliferative neoplasms (MPNs) by increasing the probability of the somatic mutation V617F in the JAK2 protein. For this reason, we evaluated the distribution of rs10974944 in Mexican populations, including published data from association studies in worldwide populations. We analyzed five Mestizo (admixed; n = 200) and four Native American (n = 200) population samples from Mexico, representing the northern, central, western, and southern regions of the country, genotyping rs10974944 by quantitative PCR using Taqman probes. Allele and genotype frequencies were estimated in each population sample. The wild-type allele C, the homozygous C/C, and the heterozygous C/G variants were the most frequent in all Mexican populations, and the genotype distribution in all samples was in Hardy-Weinberg equilibrium. Interestingly, genetic distances clustered most of the worldwide patient samples, including Tarahumaras and Mayas, which differed from Mexican and control samples. Although higher genetic susceptibility to MPNs could be predicted in these Native American populations, the homogeneous allele distribution among Mexican and worldwide control populations warrants analysis of further genetic and nongenetic factors. In sum, although worldwide population samples displayed homogeneous distribution for rs10974944, genetic clustering of worldwide patients supports the claimed association with MPNs.