Diversity of the major histocompatibility complex class II DRB, DQA and DQB genes in golden jackal (Canis aureus)

Čagalj (Canis aureus) jedna je od najrasprostranjenijih vrsta iz porodice pasa (Canidae) u sjevernoj Africi, dijelovima Azije i jugoistočnoj Europi. U posljednjih nekoliko desetljeća dogodile su se značajne populacijske promjene čaglja u Europi koje uključuju opadanje broja, oporavak i ekspanziju čaglja. Kako bi se utvrdila mogućnost adaptacije i sposobnost dugoročnog preživljavanja populacija analizira se raznolikost gena glavnoga sustava tkivne podudarnosti (MHC) koji kodiraju bjelančevine uključene u prepoznavanje patogena i pokretanje imunološkog odgovora. U ovom istraživanju istražen je ekson 2 DRB1, DQA1 i DQB1 lokusa MHC regije skupine II kod 61 jedinke čaglja iz Dalmacije, Slavonije i Srbije. Utvrđena su 4 DRB alela, 2 DQA alela i 3 DQB alela, te 8 različitih haplotipova. Rezultati ukazuju na različitu genetičku raznolikost populacija čaglja iz Dalmacije i Slavonije, pozitivnu selekciju na svim lokusima i djelovanje ravnotežne selekcije.The golden jackal is one of the most widespread canid species with distribution in northern Africa, parts of Asia and Southeastern Europe. In the past few decades the European golden jackal has undergone population size contraction and expansion. Genetic variability is thought to be essential to the long-term persistence and adaptability of populations. The major histocompatibility complex (MHC) genes are crucial for eliciting immune response and are the best adaptive markers for investigating population fitness. In this thesis the genetic diversity of the second exon of the MHC II loci DRB1, DQA1 and DQB1 was analyzed in 61 individuals. Four DRB, two DQA, three DQB alleles and eight haplotypes were detected. Various levels of MHC diversity in Slavonian and Dalmatian populations were found. In addition, sequences showed evidence for action of balancing selection through occurrence of trans-species polymorphism and significant excess of nonsynonymous substitution

Diversity of the major histocompatibility complex class II DRB, DQA and DQB genes in golden jackal (Canis aureus)

Čagalj (Canis aureus) jedna je od najrasprostranjenijih vrsta iz porodice pasa (Canidae) u sjevernoj Africi, dijelovima Azije i jugoistočnoj Europi. U posljednjih nekoliko desetljeća dogodile su se značajne populacijske promjene čaglja u Europi koje uključuju opadanje broja, oporavak i ekspanziju čaglja. Kako bi se utvrdila mogućnost adaptacije i sposobnost dugoročnog preživljavanja populacija analizira se raznolikost gena glavnoga sustava tkivne podudarnosti (MHC) koji kodiraju bjelančevine uključene u prepoznavanje patogena i pokretanje imunološkog odgovora. U ovom istraživanju istražen je ekson 2 DRB1, DQA1 i DQB1 lokusa MHC regije skupine II kod 61 jedinke čaglja iz Dalmacije, Slavonije i Srbije. Utvrđena su 4 DRB alela, 2 DQA alela i 3 DQB alela, te 8 različitih haplotipova. Rezultati ukazuju na različitu genetičku raznolikost populacija čaglja iz Dalmacije i Slavonije, pozitivnu selekciju na svim lokusima i djelovanje ravnotežne selekcije.The golden jackal is one of the most widespread canid species with distribution in northern Africa, parts of Asia and Southeastern Europe. In the past few decades the European golden jackal has undergone population size contraction and expansion. Genetic variability is thought to be essential to the long-term persistence and adaptability of populations. The major histocompatibility complex (MHC) genes are crucial for eliciting immune response and are the best adaptive markers for investigating population fitness. In this thesis the genetic diversity of the second exon of the MHC II loci DRB1, DQA1 and DQB1 was analyzed in 61 individuals. Four DRB, two DQA, three DQB alleles and eight haplotypes were detected. Various levels of MHC diversity in Slavonian and Dalmatian populations were found. In addition, sequences showed evidence for action of balancing selection through occurrence of trans-species polymorphism and significant excess of nonsynonymous substitution

Diversity of the major histocompatibility complex class II DRB, DQA and DQB genes in golden jackal (Canis aureus)

Čagalj (Canis aureus) jedna je od najrasprostranjenijih vrsta iz porodice pasa (Canidae) u sjevernoj Africi, dijelovima Azije i jugoistočnoj Europi. U posljednjih nekoliko desetljeća dogodile su se značajne populacijske promjene čaglja u Europi koje uključuju opadanje broja, oporavak i ekspanziju čaglja. Kako bi se utvrdila mogućnost adaptacije i sposobnost dugoročnog preživljavanja populacija analizira se raznolikost gena glavnoga sustava tkivne podudarnosti (MHC) koji kodiraju bjelančevine uključene u prepoznavanje patogena i pokretanje imunološkog odgovora. U ovom istraživanju istražen je ekson 2 DRB1, DQA1 i DQB1 lokusa MHC regije skupine II kod 61 jedinke čaglja iz Dalmacije, Slavonije i Srbije. Utvrđena su 4 DRB alela, 2 DQA alela i 3 DQB alela, te 8 različitih haplotipova. Rezultati ukazuju na različitu genetičku raznolikost populacija čaglja iz Dalmacije i Slavonije, pozitivnu selekciju na svim lokusima i djelovanje ravnotežne selekcije.The golden jackal is one of the most widespread canid species with distribution in northern Africa, parts of Asia and Southeastern Europe. In the past few decades the European golden jackal has undergone population size contraction and expansion. Genetic variability is thought to be essential to the long-term persistence and adaptability of populations. The major histocompatibility complex (MHC) genes are crucial for eliciting immune response and are the best adaptive markers for investigating population fitness. In this thesis the genetic diversity of the second exon of the MHC II loci DRB1, DQA1 and DQB1 was analyzed in 61 individuals. Four DRB, two DQA, three DQB alleles and eight haplotypes were detected. Various levels of MHC diversity in Slavonian and Dalmatian populations were found. In addition, sequences showed evidence for action of balancing selection through occurrence of trans-species polymorphism and significant excess of nonsynonymous substitution

Pharmacogenetic distinction of the Croatian population from the European average

Aim To compare the Croatian and European population in terms of allele frequencies of clinically relevant polymorphisms in drug absorption, distribution, metabolism, and excretion (ADME) genes. Methods In 429 Croatian participants, we genotyped 27 loci in 20 ADME genes. The obtained frequencies were merged with the published frequencies for the Croatian population by sample size weighting. The study sample obtained in this way was compared with the average data for the European population from the gnomAD database. Results Variant allele frequencies in the Croatian population were higher in three and lower in two polymorphisms (Benjamini-Hochberg-corrected P values: 0.0027 for CYP2B6*4 rs2279343, CYP2C9*2 rs1799853, and VKORC1 rs9923231; 0.0297 for GSTP1 rs1695; 0.0455 for CYP2A6 rs1801272) compared with the European population. The most marked difference was observed for CYP2B6*4 (9.3% in Europe vs 24.3% in Croatia). The most clinically relevant findings were higher variant allele frequencies in two polymorphisms related to lower warfarin requirements: VKORC1*2 (34.9% in Europe vs 40.1% in Croatia) and CYP2C9*2 (12.3% in Europe vs 14.7% in Croatia). This indicates that three-quarters of Croatian people have at least one variant allele at these loci. Variants in genes GSTP1 and CYP2A6 were significantly less frequently observed in Croatia. Conclusions Croatian population has a higher bleeding and over-anticoagulation risk, which is why we recommend the prescription of lower doses of anticoagulation drugs such as warfarin and acenocoumarol. Lower phenytoin, and higher bupropion and efavirenz doses are also recommended in the Croatian population

Relevance of <i>CYP2D6</i> Gene Variants in Population Genetic Differentiation

A significant portion of the variability in complex features, such as drug response, is likely caused by human genetic diversity. One of the highly polymorphic pharmacogenes is CYP2D6, encoding an enzyme involved in the metabolism of about 25% of commonly prescribed drugs. In a directed search of the 1000 Genomes Phase III variation data, 86 single nucleotide polymorphisms (SNPs) in the CYP2D6 gene were extracted from the genotypes of 2504 individuals from 26 populations, and then used to reconstruct haplotypes. Analyses were performed using Haploview, Phase, and Arlequin softwares. Haplotype and nucleotide diversity were high in all populations, but highest in populations of African ancestry. Pairwise FST showed significant results for eleven SNPs, six of which were characteristic of African populations, while four SNPs were most common in East Asian populations. A principal component analysis of CYP2D6 haplotypes showed that African populations form one cluster, Asian populations form another cluster with East and South Asian populations separated, while European populations form the third cluster. Linkage disequilibrium showed that all African populations have three or more haplotype blocks within the CYP2D6 gene, while other world populations have one, except for Chinese Dai and Punjabi in Pakistan populations, which have two

CVD Risk Factors in the Ukrainian Roma and Meta-Analysis of Their Prevalence in Roma Populations Worldwide

The Roma population suffers from severe poverty, social exclusion, and some of the worst health conditions in the industrialized world. Herein, we report on cardiovascular disease (CVD) risk factors in the Ukrainian Roma and present a meta-analysis of the prevalence of CVD risk factors in 16 Roma populations worldwide. The meta-analyses of CVD risk factors in Roma (n = 16,552) vs. non-Roma majority population of the same country (n = 127,874) included publicly available data. Ukrainian field survey included 339 adults of both sexes and outcomes of interest were hypertension, body mass index (BMI), smoking, education, and employment status. Furthermore, 35.7% of the Ukrainian Roma were hypertensive, 69.3% unemployed, and 48.4% never went to school. Ukrainian Roma women were more likely to be underweight and more prone to be hypertensive, with odds of hypertension increasing with age, BMI, and positive smoking status. Meta-analyses showed that, in comparison with non-Roma worldwide, the Roma bear significantly higher risk factor loads related to smoking (OR = 2.850), diabetes (OR = 1.433), abdominal obesity (OR = 1.276), and metabolic syndrome (OR = 1.975), with lower loads for hypertension (OR = 0.607) and BMI ≥ 25 kg/m2 (OR = 0.872). To conclude, the CVD risk factors which are more common in Roma than in the majority population may reflect their poor health-related behaviors and inadequate access to health education