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INTRODUCTION: HLA-C*06 is a major psoriasis genetic risk marker. Recent reports have been focused on the role of different polymorphisms within genes involved in the functioning of the epidermal barrier and antigen processing in the pathogenesis of psoriasis. Data on the association between genetic variants of LCE3B_LCE3C, CSTA, ERAP1, ZAP70 and this dermatosis in the population from Eastern Europe are lacking. AIM: To compare the association between known genetic risk markers and psoriasis in a cohort of northern Polish patients with psoriasis and healthy controls. MATERIAL AND METHODS: Based on previous studies' results, five susceptibility loci: HLA-C, LCE3C_LCE3B, ERAP1, ZAP70 and CSTA were selected for genotyping in 148 patients with chronic plaque psoriasis and 146 healthy controls. Each patient with this disease was clinically assessed with the Psoriasis Area and Severity Index. RESULTS: The study population showed a significant association of psoriasis and a single nucleotide polymorphism in the ERAP1 - rs26653 (p = 3.11 × 10-5) and HLA-C*06 allele (p = 1.02 × 10-11) when compared with the control group. The presence of HLA-C*06 or rs26653 G allele significantly increased the risk of psoriasis by 2.4 times or twice, respectively. Carrying rs26653 C allele considerably decreased the risk of psoriasis by 1.5 times. CONCLUSIONS: In the context of pathogenesis of psoriasis, our findings might give the evidence on disturbances in the proteolytic processing of N-terminal fragments of antigens presented via major histocompatibility complex class I to T cells.
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Psoriasis genetic background depends on polygenic and multifactorial mode of inheritance. As in other complex disorders, the estimation of the disease risk based on individual genetic variants is impossible. For this reason, recent investigations have been focused on combinations of known psoriasis susceptibility markers in order to improve the disease risk evaluation. Our aim was to compare psoriasis genetic risk score (GRS) for five susceptibility loci involved in the immunological response (HLA-C, ERAP1, ZAP70) and in the skin barrier function (LCE3, CSTA) between patients with chronic plaque psoriasis (n = 148) and the control group (n = 146). A significantly higher number of predisposing alleles was observed in patients with psoriasis in comparison to healthy individuals (6.1 vs. 5.2, respectively; P = 8.8×10-7). The statistical significance was even more profound when GRS weighted by logarithm odds ratios was evaluated (P = 9.9×10-14). Our results demonstrate the developed panel of five susceptibility loci to be more efficient in predicting psoriasis risk in the Polish population and to possess higher sensitivity and specificity for the disease than any of the markers analyzed separately, including the most informative HLA-C*06 allele.
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The objective of the study was to examine the mutation rates of Y-chromosomal STR from father-son pairs. The paternity in these cases was confirmed previously with the use of autosomal STR system performing standard analyses of genetic profiles of the mother, child and putative father (PI > = 100000). We examined 200 father-son sample pairs from Northern Poland using the Y-STR 18-plex. We identified eleven mutations. Five mutations resulted in the gain of a repeat in the sons' chromosome and six resulted in a loss of a repeat. All the samples resulted in single repeat mutations from one sample, which contained a two repeat loss at DYS385. The overall average mutation rate estimate was 0.0031.There was no significant difference in the mutation rate between Y-STR loci of the 200 tested father-son pairs and the YHRD base.
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Cromossomos Humanos Y/genética , Genética Forense/métodos , Frequência do Gene , Genes Ligados ao Cromossomo Y/genética , Repetições de Microssatélites/genética , Mutação , DNA/genética , DNA/isolamento & purificação , Pai , Genética Populacional/estatística & dados numéricos , Haplótipos/genética , Humanos , Núcleo Familiar , Paternidade , PolôniaRESUMO
Besides autosomal STR loci, markers of sex chromosomes, X and Y, are increasingly more commonly used in genetic analyses aiming at paternity testing or personal identification. The paper presents cases in which analysis of microsatellite loci of the X chromosome (X-STRs) was included in the routine examination and allowed for an unambiguous determination of the relationship between the tested individuals. The cases addressed paternity testing of female children, determination whether the examined women were paternal half-sisters, as well as personal identification of a deceased man. In none of the conducted expert opinions, the putative father's DNA sample was't available. Genotyping of X-STR markers was carried out with the use of commercial kits: Mentype Argus X-8 PCR Amplification Kit (Biotype) and Investigator Argus X-12 Kit (Qiagen).
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Cromossomos Humanos X/genética , Marcadores Genéticos/genética , Repetições de Microssatélites/genética , Paternidade , Polimorfismo Genético , Adulto , Alelos , DNA/genética , Feminino , Haplótipos/genética , Humanos , Masculino , Linhagem , Reação em Cadeia da Polimerase , IrmãosRESUMO
The purpose of this study was to evaluate the homogeneity of Polish populations with respect to STRs chosen as core markers of the Polish Forensic National DNA Intelligence Database, and to provide reference allele frequencies and to explore the genetic interrelationship between Poland and neighboring countries. The allele frequency distribution of 10 STRs included in the SGMplus kit was analyzed among 2176 unrelated individuals from 6 regional Polish populations and among 4321 individuals from Germany (three samples), Austria, The Netherlands, Sweden, Czech Republic, Slovakia, Belarus, Ukraine and the Russian Federation (six samples). The statistical approach consisted of AMOVA, calculation of pairwise Rst values and analysis by multidimensional scaling. We found homogeneity of present day Poland and consistent differences between Polish and German populations which contrasted with relative similarities between Russian and German populations. These discrepancies between genetic and geographic distances were confirmed by analysis of an independent data set on Y chromosome STRs. Migrations of Goths, Viking influences, German settlements in the region of Volga river and/or forced population resettlements and other events related to World War II are the historic events which might have caused these finding.
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Genética Forense , Genética Populacional , Repetições de Microssatélites/genética , Grupos Populacionais/genética , Alelos , Áustria , Cromossomos Humanos Y , República Tcheca , Emigração e Imigração , Frequência do Gene , Marcadores Genéticos , Geografia , Alemanha , Haplótipos , Heterozigoto , Humanos , Países Baixos , Polônia , República de Belarus , Federação Russa , Eslováquia , Suécia , UcrâniaRESUMO
Allele frequencies of 15 short tandem repeat loci included in the AmpFlSTR Identifiler kit (Applied Biosystems) were obtained from a sample set of unrelated individuals living in Belarus (n=176). For all loci, no deviation from Hardy-Weinberg equilibrium was found. Results were compared with data available for the Belarusian minority residing in northeastern Poland and for other Slavic populations. Statistically significant differences were observed between Belarusians and all compared populations. The values of heterozygosity, polymorphic information content (PIC), power of discrimination (PD), power of exclusion (PE), paternity index (PI) and matching probability (pM) were calculated.
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Bases de Dados como Assunto , Frequência do Gene , Genética Populacional , Sequências de Repetição em Tandem , Impressões Digitais de DNA , Humanos , Reação em Cadeia da Polimerase , República de BelarusRESUMO
UNLABELLED: INTRODUCTION, MATERIALS AND METHODS: The allele frequencies of four short tandem repeats (STR) loci specific to the human X chromosome (DXS101, DXS7423, DXS8377 and phosphoribosyltransferase HPRTB) were analyzed by means of a multiplex PCR reaction in a sample of 200 unrelated individuals residing in the northern part of Poland. The separation and detection of PCR products were performed by capillary electrophoresis on the 3130 Genetic Analyzer. Testing for Hardy-Weinberg equilibrium (HWE) showed no significant deviation for these loci. RESULTS: Statistical parameters such as: heterozygosity observed, mean exclusion chance, power of discrimination in males and power of discrimination in females showed that the examined multiplex is useful in forensic and paternity testing applications.
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Cromossomos Humanos X/genética , Genética Populacional , Feminino , Medicina Legal/métodos , Frequência do Gene , Humanos , Masculino , Repetições de Microssatélites , Paternidade , PolôniaRESUMO
This paper describes results of a population study of two X-linked STR microsatellite markers: DXS7108 and DXS1196. 298 samples of DNA of unrelated persons (male and female) from the Northern part of Poland were analyzed. DNA was isolated using a non-enzymatic method. After amplification PCR products were separated by means of capillary electrophoresis using the ABI PRISM 310 Genetic Analyzer. The most common alleles of each locus were sequenced and used as a control ladder to type unknown samples. Testing for Hardy-Weinberg equilibrium (HWE) showed no significant deviation for these two loci. Statistical parameters (PD, HET, MEC) showed that examined systems are useful in forensic medicine.
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Cromossomos Humanos X , Frequência do Gene , Repetições Minissatélites/genética , Polimorfismo Genético , Sequências de Repetição em Tandem/genética , Adulto , Impressões Digitais de DNA/métodos , Feminino , Medicina Legal , Marcadores Genéticos , Genética Populacional , Humanos , Masculino , Polônia/epidemiologia , Reação em Cadeia da Polimerase , Estudos de AmostragemRESUMO
This paper presents the results of a population study of a dinucleotide STR marker DXS1062. Blood samples were obtained from unrelated adult individuals (males and females) living in the northern part of Poland. In the analyzed population, 21 different phenotypes and 9 alleles of the DXS1062 locus were found. The alleles were sequenced and used for the construction of an allelic ladder. The nomenclature in accordance with ISFG guidelines was proposed. The most frequent alleles were 20 and 21. Statistical parameters (PR, PM, PD, PIC) showed that the examined system is useful in forensic medicine.