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001-es BibID:	BIBFORM040844
Első szerző:	Dezsőfi Antal
Cím:	Frequencies of Genetic Polymorphisms of TLR4 and CD14 and of HLA-DQ Genotypes in Children With Celiac Disease, Type 1 Diabetes Mellitus, or Both / Dezsőfi, A., Szebeni, B., Hermann, CS., Kapitány, A., Veres, G., Sipka, S., Körner, A., Madácsy, L., Korponay-Szabó, I., Rajczy, K., Arató, A.
Dátum:	2008
ISSN:	0277-2116
Megjegyzések:	OBJECTIVES: Besides the central role of the adaptive immune system, a disturbance of innate immunity is also involved in the pathogenesis of celiac disease (CD). Inasmuch as CD and type 1 diabetes mellitus (T1DM) frequently coexist because of a common genetic predisposition, our aim was to study the frequency of CD14 C-260T and TLR4 A+896G single nucleotide polymorphisms (SNPs) and the distribution of HLA-DQ genotypes in children affected by CD, T1DM, or both. PATIENTS AND METHODS: TLR4 and CD14 SNPs were tested by polymerase chain reaction, followed by restriction fragment length polymorphism analysis in 80 children with T1DM, 100 children with CD, and 47 children with both CD and T1DM. Determination of HLA-DQ alleles was done by sequence-specific polymerase chain reaction. Frequencies were compared with those of healthy control children. RESULTS: The prevalence of the homozygous CD14 C-260TT genotype was significantly (P = 0.0081) lower in children with T1DM but not in those with CD and T1DM, compared with control children. No difference was found in the genotype and allele frequencies of TLR4 between the studied groups. In patients with T1DM, the frequency of the homozygous HLA-DQ8 genotype was significantly higher than in CD, whereas the frequency of homozygous or heterozygous HLA-DQ2 genotypes did not differ from that in control children. In patients with CD, both homozygous and heterozygous HLA-DQ2 genotypes were significantly more frequent than in the control and T1DM groups, and no elevation in the frequency of the HLA-DQ8 genotypes was observed. In patients with T1DM and those with CD and T1DM, the occurrence of HLA-DQ2/8 heterozygosity was significantly higher than in children with CD only and in control children. CONCLUSIONS: Our results suggest that in patients with T1DM, the CD14 C-260TT homozygous genotype increases the risk for the development of CD. The distribution of HLA-DQ genotype is different in children with CD and T1DM than in children with CD or T1DM only. Determination of the HLA-DQ genotype in children with T1DM may help in estimating the risk for the development of CD.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	Journal Of Pediatric Gastroenterology And Nutrition. - 47 : 3 (2008), p. 283-287. -
További szerzők:	Szebeni Beáta Hermann, CS. Kapitány Anikó (1979-) (molekuláris biológus) Veres Gábor (1969-2020) (csecsemő- és gyermekgyógyász, gasztroenterológus) Sipka Sándor (1945-) (laboratóriumi szakorvos) Körner Anna Madácsy László (Szeged) Korponay-Szabó Ilma (1959-) (gyermekgyógyász) Rajczy Katalin Arató András
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM040672
035-os BibID:	PMID:16331753
Első szerző:	Zsilák Szilvia
Cím:	HLA-DR genotypes in familial rheumatoid arthritis : increased frequency of protective and neutral alleles in a multicase family / Szilvia Zsilák, János Gál, László Hodinka, Katalin Rajczy, Attila Balog, Sándor Sipka, Sándor Baráth, Anikó Kapitány, Erika Zilahi, Zoltán Szekanecz
Dátum:	2005
Megjegyzések:	We describe a unique family where each of the 5 siblings in the second generation has rheumatoid arthritis (RA). Two other members of the family have RA and systemic lupus erythematosus (SLE), respectively. No members of previous generations in the family had documented inflammatory arthritis. Due to the suspected genetic predisposition, HLA-DR genotypes were determined in the affected siblings and their parents, children, and grandchildren. We investigated the possible role of various HLA-DR alleles in the evolution of RA in this multicase family. METHODS: HLA-DRB1* alleles were determined by polymerase chain reaction using the sequence-specific primer-Olerup method. RESULTS: The most common alleles in the 6 persons with RA were HLA-DRB107 and DRB115, which are known to be protective and neutral in RA. No patient or family member carried any HLA-DR4 alleles. CONCLUSION: HLA-DRB107 and DRB115 alleles are thought to be protective or neutral in RA. However, the majority of RA patients in the family and nearly half of all family members carried these alleles, suggesting a role of these genotypes in susceptibility to RA. No RA patient in this family carried HLA-DR4 alleles. Thus, in our rare family with 6 RA cases, an unexpected genetic background may be involved in the increased susceptibility to inflammatory arthritis.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban Adult Arthritis, Rheumatoid Female Gene Frequency Genetic Predisposition to Disease Genotype HLA-DR Antigens Humans Lupus Erythematosus, Systemic Male egyetemen (Magyarországon) készült közlemény
Megjelenés:	The Journal of Rheumatology. - 32 : 12 (2005), p. 2299-2302. -
További szerzők:	Gál János Hodinka László Rajczy Katalin Balog Attila Sipka Sándor (1945-) (laboratóriumi szakorvos) Baráth Sándor (1977-) (biológus) Kapitány Anikó (1979-) (molekuláris biológus) Zilahi Erika (1964-) (molekuláris biológus) Szekanecz Zoltán (1964-) (reumatológus, belgyógyász, immunológus)
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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