title: Marked differences of haplotype tagging SNP distribution, linkage, and haplotype profile of IL23 receptor gene in Roma and Hungarian population samples.
abstract: Polymorphisms of the interleukin-23 receptor (IL23R) gene have been found to play an important role in the development of several autoimmune diseases. We examined five susceptible (rs10889677, rs1004819, rs2201841, rs11805303, rs11209032), one protective (rs7517847) and two neutral variants (rs7530511, rs1884444) of the IL23R gene in pooled DNA of healthy Roma (Gipsy) and Hungarian population samples. Our aim was to determine the genetic variability of the major haplotype tagging polymorphisms, and the haplotype profile of IL23R between the two groups. We analyzed 273 healthy Roma and 253 Hungarian DNA samples using PCR/RFLP assay. Comparing the five susceptible conferring alleles, there were significant increase (p<0.05), while in the protective alleles, there were decrease in the allele frequencies in Roma population (p<0.05). One of the neutral alleles showed increase, the another one did not differ between the two groups. The haplotype analysis of the SNPs revealed fundamentally different association types of SNPs in the two groups; moreover, the frequencies of the various haplotypes also exhibited strong differences, as of ht4 and ht5 haplotypes were significantly higher, whereas the frequencies of ht2 and ht3 haplotypes were significantly lower in the Roma population than in Hungarians (p<0.05). The data presented here show profound differences in the IL23R genetic profiles in the Roma population, that likely has also clinical implications in respect their possible role in the development of certain immunological diseases.
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, Ifjusag 20, H-7624 Pecs, Hungary.
authors: Lili
authors: L
authors: Magyari
authors: Department of Dermatology, Venereology and Oncodermatology, University of Pecs, Kodaly 20, H-7624 Pecs, Hungary.
authors: Dalma
authors: D
authors: Varszegi
authors: 1st Department of Internal Medicine, University of Pecs, Rakoczi 2, H-7623 Pecs, Hungary.
authors: Patricia
authors: P
authors: Sarlos
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, Ifjusag 20, H-7624 Pecs, Hungary.
authors: Luca
authors: L
authors: Jaromi
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary.
authors: Bela I
authors: BI
authors: Melegh
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary.
authors: Balazs
authors: B
authors: Duga
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, Ifjusag 20, H-7624 Pecs, Hungary.
authors: Peter
authors: P
authors: Kisfali
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, Ifjusag 20, H-7624 Pecs, Hungary.
authors: Erzsebet
authors: E
authors: Kovesdi
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary.
authors: Petra
authors: P
authors: Matyas
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary.
authors: Andras
authors: A
authors: Szabo
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary.
authors: Renata
authors: R
authors: Szalai
authors: Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address: bela.melegh@aok.pte.hu.
authors: Bela
authors: B
authors: Melegh
mesh_terms: D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D006814:Hungary; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018123:Receptors, Interleukin / Q000235:genetics*
chemical_list: C515500:IL23R protein, human; D018123:Receptors, Interleukin
keywords: AS; CD; Crohn’s disease; IBD; IL-12; IL-23; IL23R; Immune diseases; PCR; PS; RFLP; Roma; SLE; SNP; SS; Sjögren syndrome; Susceptibility; UC; ankylosing spondylitis; haplotype; ht; inflammatory bowel disease; interleukin 12; interleukin 23; interleukin-23 receptor; polymerase chain reaction; psoriasis; restriction length polymorphism; single nucleotide polymorphism; systemic lupus erythematosus; ulcerative colitis