The distribution of HLA alleles class I and class II among patientes with psoriatic arthritis in Croatia

Cilj ovog rada bio je istražiti raspodjelu alela lokusa HLA-A, -B, -Cw i DRB1 među bolesnicima s psorijatičnim artritisom (PsA) u Hrvatskoj. DNA, izolirana iz uzorka periferne krvi 58 bolesnika (28 muškaraca i 30 žena) i 157 kontrolnih osoba, testirana je metodom lančane reakcije polimerazom i primerima specifičnih sekvenci (PCR-SSP) za polimorfizam navedenih lokusa HLA. Najjaču povezanost s PsA među hrvatskim bolesnicima pokazali su aleli lokusa HLA-B (B*39 i B*57), dok su aleli B*27 i B*13 pokazali povišenu učestalost samo prije korekcije p vrijednosti. Povišena zastupljenost alela Cw*02, te alela DRB1*16 posljedica je neravnoteže udruživanja tih alela s alelima lokusa HLA-B koji su povezani s PsA u Hrvatskoj. Među bolesnicima je smanjena zastupljenost alela B*0702, B*18 i B*38.The aim of the present study was to analyze the distribution of HLA-A, -B, -Cw, and -DRB1 alleles among patients with psoriatic arthritis (PsA) in Croatia. DNA was isolated from peripheral blood of 58 PsA patients (28 male and 30 female) and tested by PCR-SSP (Polymerase Chain Reaction - Sequence Specific Primers) method for polymorphism of the above mentioned HLA loci. The strongest association between psoriatic arthritis and HLA in the Croatian population was observed for alleles at HLA-B locus (B*39 and B*57), while the association of B*27 and B*13 alleles with PsA reached significance only before correction of p value with the number of tested alleles. Higher frequency of Cw*02 and DRB1*16 alleles is a result of linkage disequilibrium between these alleles and HLA-B alleles associated with PsA in Croatia. We also observed lower frequency of B*0702, B*18 and B*38 alleles in our group of patients

Analysis of leptin, adiponectin and adiponectin gene polymorphism and leptin receptor in obese children and adolescents

Background: The aim of this study was to determine serum levels of leptin and adiponectin of obese children to identify the influence of leptin receptor gene polymorphisms on leptin resistance and leptin levels, as well as the association between the polymorphisms of adiponectin gene and adiponectin levels.Materials and methods: A case-control study comparing a study group of 74 obese children (age 13.34±2.60 years) to a normal weight-age matched (age 13.39±2.64 years) control group of 69 children. In both groups, body mass index (BMI) and waist/hip circumference, systolic and diastolic blood pressure were measured. Also, the leptin and adiponectin levels, as well as glucose and lipid metabolism parameters, and highly sensitive C-reactive protein (hs-CRP) were measured. Insulin sensitivity was evaluated using fasting insulinemia and Homeostatic Model Assessment for Insulin Resistance (HOMA-IR). All subjects were tested for gene-tic polymorphisms in LEPRQ223R (rs1137101), ADIPOQ G276T (rs1501299) and ADIPOT45G (rs2241766).Results: The phenotypes of the obese children study group were significantly higher than in the control group in weight, BMI, waist/hip circumferences and systolic blood pressure (SBP) (P<0.001). We confirmed that in obese children the levels of leptin in the blood are increased and levels of adiponectin are decreased (P<0.001). The differences of the genotype distributions of leptin receptor (LEPRQ223R) and adiponectin (ADIPOG276T and ADIPOT45G) gene polymorphisms in the study group of obese chil-dren and a control group was not observed.Conclusion: In this study, we demonstrated increased leptin level and significantly decreased level of adiponectin in the obese children group compared with the control group. The results of the analysis of glucose metabolism and lipidogram between the two groups showed that insulin, HOMA-IR, and triglycerides, as well as hsCRP were increased and significantly different in the group of obese children compared to the control group, as expected. However, by including a significantly larger number of tested and control samples of both sexes and age-specific groups, with a larger number of tested SNPs, the genes investigated in this study would probably give better insight into a multicomplex disease such as obesity

Frequency of HLA-DRB1-DQA1-DQB1 haplotypes in psoriatics with positive and negative family history

Cilj: Istražiti učestalost haplotipskih sveza HLA-DRB1-DQA1-DQB1 te produženog haplotipa Cw*0602-B57-DRB1*07-DQA1*0201 DQB1*0201 u pacijenata s pozitivnom i negativnom obiteljskom anamnezom psorijaze. Ispitanici i metode: Istraživanje povezanosti gena sustava HLA razreda I i II sa psorijazom obuhvatilo je 118 nesrodnih pacijenata s vulgarnom psorijazom. Učestalost haplotipskih sveza ispitana je serološki i metodom hibridizacije specifičnim probama. Rezultati: Utvrđena je povišena učestalost haplotipa DRB1*07-DQA1*0201- -DQB1*0201 i DRB1*07-DQA1*0201-DQB1*0303 u psorijatičara s pozitivnom obiteljskom anamnezom te također produženog haplotipa Cw6-B57-DRB1*0701-DQA1*0201- -DQB1*0201 (P = 0,004). U psorijatičara s negativnom obiteljskom anamnezom učestalost produženog haplotipa gotovo je ista kao u kontrolnoj skupini. Zaključak: Rezultati istraživanja ukazuju na jaču i značajniju povezanost s podložnim haplotipovima HLA za pacijente s pozitivnom obiteljskom anamnezom psorijaze, stoga upućuju na značajnu ulogu gena sustava HLA u nasljeđivanju psorijaze.Aim: To analyze the distribution of HLA-DRB1-DQA1-DQB1 haplotypes as well as the extended haplotype Cw*0602-B57-DRB1*07 DQA1*0201-DQB1*0201 in patients with positive and negative family history of psoriasis. Patients and methods: The association of HLA genes classes I and II with psoriasis has been studied in 118 patients with chronic stable psoriasis. The frequency of HLA haplotypes was analyzed by means of serology and hybridization with specific oligonucleotide probes. Results: The group with positive family history showed a significant association with DRB1*07-DQA1*0201-DQB1*0201 and DRB1*07- DQA1*0201-DQB1*0303 as well as with the extended haplotype Cw6-B57-DRB1*0701- DQA1*0201-DQB1*0201 (P = 0,004). The frequency of extended haplotype in the group with negative family history was similar to the control group. Conclusion: Psoriatics with positive family history show stronger association with susceptibl

Frequency of HLA-DRB1-DQA1-DQB1 haplotypes in psoriatics with positive and negative family history

Cilj: Istražiti učestalost haplotipskih sveza HLA-DRB1-DQA1-DQB1 te produženog haplotipa Cw*0602-B57-DRB1*07-DQA1*0201 DQB1*0201 u pacijenata s pozitivnom i negativnom obiteljskom anamnezom psorijaze. Ispitanici i metode: Istraživanje povezanosti gena sustava HLA razreda I i II sa psorijazom obuhvatilo je 118 nesrodnih pacijenata s vulgarnom psorijazom. Učestalost haplotipskih sveza ispitana je serološki i metodom hibridizacije specifičnim probama. Rezultati: Utvrđena je povišena učestalost haplotipa DRB1*07-DQA1*0201- -DQB1*0201 i DRB1*07-DQA1*0201-DQB1*0303 u psorijatičara s pozitivnom obiteljskom anamnezom te također produženog haplotipa Cw6-B57-DRB1*0701-DQA1*0201- -DQB1*0201 (P = 0,004). U psorijatičara s negativnom obiteljskom anamnezom učestalost produženog haplotipa gotovo je ista kao u kontrolnoj skupini. Zaključak: Rezultati istraživanja ukazuju na jaču i značajniju povezanost s podložnim haplotipovima HLA za pacijente s pozitivnom obiteljskom anamnezom psorijaze, stoga upućuju na značajnu ulogu gena sustava HLA u nasljeđivanju psorijaze.Aim: To analyze the distribution of HLA-DRB1-DQA1-DQB1 haplotypes as well as the extended haplotype Cw*0602-B57-DRB1*07 DQA1*0201-DQB1*0201 in patients with positive and negative family history of psoriasis. Patients and methods: The association of HLA genes classes I and II with psoriasis has been studied in 118 patients with chronic stable psoriasis. The frequency of HLA haplotypes was analyzed by means of serology and hybridization with specific oligonucleotide probes. Results: The group with positive family history showed a significant association with DRB1*07-DQA1*0201-DQB1*0201 and DRB1*07- DQA1*0201-DQB1*0303 as well as with the extended haplotype Cw6-B57-DRB1*0701- DQA1*0201-DQB1*0201 (P = 0,004). The frequency of extended haplotype in the group with negative family history was similar to the control group. Conclusion: Psoriatics with positive family history show stronger association with susceptibl

Anisakis Sensitization in the Croatian fish processing workers: Behavioral instead of occupational risk factors?

We undertook the first study systematically evaluating the risk of Anisakis-sensitization in Croatian fish-processing workers and potential genetic susceptibility to anisakiasis. Anti-Anisakis IgE seroprevalence and risk factors for 600 employees of Croatian fish processing facilities and 466 blood donor controls, were assessed by indirect ELISA targeted with: recombinant Ani s 1 and Ani s 7 allergens, an Anisakis crude extract, the commercial ImmunoCAP kit, and questionnaires. Genetic susceptibility to anisakiasis was evaluated by genotypisation of human leukocytes alleles (HLA). Anti-Anisakis seropositive and a fraction of negative subjects were also assessed by ELISA and Western Blot (WB) for IgG seroprevalence to Trichinella spp. Overall, the observed anti-Anisakis seroprevalence inferred by indirect ELISA was significantly higher in fish processing workers (1.8%, 95% CI 0.9-3.3%) compared to the controls (0%, 0-0.8%). Seven out of 11 Ani s 1 and Ani s 7-positives and none of selected 65 negative sera, tested positive on whole-Anisakis extract (ImmunoCAP), whereas Anisakis crude extract ELISA detected 3.9% (2.4-6.0%) seropositives in fish processing workers, three (14%) of which showed IgE reactivity to milk proteins. The highest risk associated with Anisakis-sensitization among workers was fishing in the free time, rather than any of attributes related to the occupational exposure. Although no association was observed between anti-Anisakis seropositivity and wearing gloves or protective goggles, the majority of workers (92%) wore protective gloves, minimizing the risk for Anisakis sensitization via skin contact. Six HLA alleles within DRB1 gene were significantly associated with seropositivity under dominant, allelic or recessive models. All sera confirmed negative for anti-Trichinella spp. IgG. The study exhaustively covered almost all marine fish processing workers in Croatia, reflecting real-time Anisakis sensitization status within the industry, already under the influence of wide array of allergens