Determing the risk of occurence celiac disease based on genetic marker HLA-DRB1*0301 (rs2187668)

Cilj istraživanja: Cilj ovog istraživanja bio je utvrditi postoji li povezanost biljega rs2187668 s pojavom celijakije i drugih bolesti udruženih u fenotip celijakije. Materijali i metode: Ovo istraživanje provedeno je u sklopu istraživačkog projekta 10,001 Dalmatinac, na temelju ispitanika koji su u istraživanje uključeni na području otoka Korčule. Ispitanici su se birali na način da je stvaran prikladan uzorak odraslih osoba starijih od 18 godina. Podatci o biokemijskim parametrima su prikupljeni standardnim procedurama mjerenja. Podatci o celijakiji i drugim bolestima dobiveni su izravno od ispitanika ili uvidom u njihovu medicinsku dokumentaciju. U svrhu genetskog testiranja ispitanika korišten je cjelogenomski panel HumanHap 300 (v1). U statističkoj analizi korišteni su prosjek i standardna devijacija za prikaz numeričkih podataka ili ukupan broj i postotak za kategorijske. Korišteni su t-test i Fisherov egzaktni test. Rezultati: Ovo istraživanje uključilo je ukupno 940 ispitanika s Korčule. U uzorku je bilo ukupno 606 žena (64,5%) i 334 muškaraca (35,5%), prosječne dobi 57,66±14,42 za muškarce i 55,49±13,95, što je bila statistički značajna razlika (P=0,023). U uzorku je zabilježen jedan slučaj celijakije, koji je bio heterozigot, te je zabilježena češća pojava raznih oblika autoimunih bolesti povezanih s alelom A. Također, zabilježen je slučaj Addisonove bolesti koji je pripadao u AA genotip, visokog rizika za pojavu raznih autoimunih bolesti. Od analiziranih biokemijskih parametara, niti jedan nije imao statistički značajnu razliku među tri ispitivane skupine. Zaključci: U ispitivanoj populaciji pronalazimo povezanost između biljega rs2187668 i autoimunih bolesti te povezanost između biljega rs2187668 homozigotnog (AA) genotipa i Addisonove bolesti. Povezanost između triju skupina ispitanika i biokemijskih parametara nije utvrđena, kao ni povezanost biljega rs2187668 s celijakijom.Objective: The objective of this study was to determine whether there is a connection between marker rs2187668 with the appearance of celiac disease and other diseases associated to celiac disease phenotype. Materials and methods: This research was conducted as part of research project 10,001 Dalmatian, based on respondents who are involved in the research area of the island of Korčula. Respondents were chosen in a way that is real convenience sample of adults older than 18 years. Data on biochemical parameters were collected by standard procedures of measurement. Data about celiac disease and other diseases were obtained directly from respondents or insight into their medical records. The purpose of genetic testing participants was used genome-panel HumanHap 300 (v1). The statistical analysis used the average and standard deviation for the display of numerical data or the total number and percentage for categorical. The tests that were used are T-test and Fisher's exact test. Results: This study included a total of 940 respondents from Korčula. The sample had a total of 606 women (64,5%) and 334 men (35,5%), avarege age 57,66 ± 14,42 for men and 55,49 ± 13,95, which was a statistically significant difference ( P=0.023). In the sample was noted one case of celiac disease, which was heterozygous, and it was notified frequent occurrence of various forms of autoimmune disease associated with allele A. Also, there is a case of Addison's disease, which is a member of the AA genotype, higher risk for a variety of autoimmune diseases. At the analysis of biochemical parameters, none of them had a statistically significant difference among the three treatment groups. Conclusions: In the studied population we find associations between markers rs2187668 and autoimmune diseases, and the linkage between markers rs2187668 homozygous (AA) genotype and Addison's disease. The relationship between the three groups and biochemical parameters have not been established, as well as markers rs2187668 association with celiac disease