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001-es BibID:	BIBFORM016390
Első szerző:	Penyige András (molekuláris genetikus)
Cím:	Analyses of association between PPAR gamma and EPHX1 polymorphisms and susceptibility to COPD in a Hungarian cohort, a case-control study / Penyige András, Póliska Szilárd, Csánky Eszter, Scholtz Beáta, Dezső Balázs, Schmelczer Iván, Kilty Iain, Takács László, Nagy László
Dátum:	2010
ISSN:	1471-2350
Megjegyzések:	In addition to smoking, genetic predisposition is believed to play a major role in the pathogenesis of chronic obstructive pulmonary disease (COPD). Genetic association studies of new candidate genes in COPD may lead to improved understanding of the pathogenesis of the disease.Methods: Two proposed casual single nucleotide polymorphisms (SNP) (rs1051740, rs2234922) in microsomal epoxide hydrolase (EPHX1) and three SNPs (rs1801282, rs1800571, rs3856806) in peroxisome proliferator-activated receptor gamma (PPARG), a new candidate gene, were genotyped in a case-control study (272 COPD patients and 301 controls subjects) in Hungary. Allele frequencies and genotype distributions were compared between the two cohorts and trend test was also used to evaluate association between SNPs and COPD. To estimate the strength of association, odds ratios (OR) (with 95% CI) were calculated and potential confounding variables were tested in logistic regression analysis. Association between haplotypes and COPD outcome was also assessed.Results: The distribution of imputed EPHX1 phenotypes was significantly different between the COPD and the control group (P = 0.041), OR for the slow activity phenotype was 1.639 (95% CI = 1.08- 2.49; P = 0.021) in our study. In logistic regression analysis adjusted for both variants, also age and pack-year, the rare allele of His447His of PPARG showed significant association with COPD outcome (OR = 1.853, 95% CI = 1.09-3.14, P = 0.0218). In haplotype analysis the GC haplotype of PPARG (OR = 0.512, 95% CI = 0.27-0.96, P = 0.035) conferred reduced risk for COPD.Conclusions: The "slow" activity-associated genotypes of EPHX1 were associated with increased risk of COPD. The minor His447His allele of PPARG significantly increased; and the haplotype containing the minor Pro12Ala and the major His447His polymorphisms of PPARG decreased the risk of COPD.
Tárgyszavak:	Természettudományok Biológiai tudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	BMC Medical Genetics [electronic resource]. - 11 (2010), p. 152. -
További szerzők:	Póliska Szilárd (1978-) (biológus) Csánky Eszter (1959-) (tüdőgyógyász, klinikai immunológus, allergológus) Scholtz Beáta (1967-) (biokémikus, molekuláris biológus) Dezső Balázs (1951-) (pathológus) Schmelczer Iván Kilty, Iain Takács László (1955-) Nagy László (1966-) (molekuláris sejtbiológus, biokémikus)
Pályázati támogatás:	NKFP 1/007/01 Egyéb
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001-es BibID:	BIBFORM028513
Első szerző:	Póliska Szilárd (biológus)
Cím:	Association of peroxisome proliferator-activated receptor gamma polymorphisms with inflammatory bowel disease in a hungarian cohort / Poliska Szilard, Penyige Andras, Lakatos Peter Laszlo, Papp Maria, Palatka Karoly, Lakatos Laszlo, Molnar Tamas, Nagy Laszlo
Dátum:	2012
ISSN:	1078-0998
Megjegyzések:	Inflammatory bowel disease (IBD) shows increasing incidence in the last few years in Eastern Europe, including Hungary. Since genetic susceptibility of patients plays an important role in the development and pathogenesis of IBD, it is important to identify new susceptibility genes. Peroxisome proliferator-activated receptor gamma (PPARγ) is expressed in the colon and has protective effects against inflammatory processes. Our aim was to examine the association of four polymorphisms of PPARγ in a well-characterized Hungarian IBD cohort. METHODS: In all, 575 Crohn's disease (CD), 103 ulcerative colitis (UC) patients, and 486 sex- and age-matched controls were examined. Four polymorphisms of PPARγ (rs10865710 [C-681G], rs2067819, rs3892175, and rs1801282 [Pro12Ala]) were genotyped by TaqMan genotyping assays. RESULTS: The Pro12Ala polymorphism showed significant association with CD when the frequencies of the homozygous variants (Pro/Pro vs. Ala/Ala) were compared. The minor Ala/Ala genotype was significantly less frequent in CD patients compared to the controls (odds ratio [OR] = 0.33; 95% confidence interval [CI] = 012-0.94; P = 0.03), suggesting a potential protective effect of the Ala allele. The GAGG haplotype of PPARγ confers a protective effect in CD; however, it is not significant, but in UC it has a protective effect with a significant level (OR = 0.14; 95% CI: 0.05-0.42; P = 3.78 x 10(-5) ), while GAGC increases the risk of UC (OR = 6.70; 95% CI: 3.41-13.17; P = 3.85 x 10(-10) ). CONCLUSIONS: In the present study we demonstrated a significant association between PPARγ polymorphisms and the development of CD and UC at single loci level and also in haplotype combinations. (Inflamm Bowel Dis 2011;).
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban egyetemen (Magyarországon) készült közlemény
Megjelenés:	Inflammatory Bowel Diseases. - 18 : 3 (2012), p. 472-479. -
További szerzők:	Penyige András (1954-) (molekuláris genetikus) Lakatos Péter (Semmelweis Egyetem) Papp Mária (1975-) (belgyógyász, gasztroenterológus) Palatka Károly (1961-) (belgyógyász, gasztroenterológus) Lakatos László (Veszprém) Molnár Tamás (orvos Szeged) Nagy László (1966-) (molekuláris sejtbiológus, biokémikus)
Internet cím:	Intézményi repozitóriumban (DEA) tárolt változat DOI
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