2006
Haplotype analysis of the region of 6p chromosome spanning the AGER – TNFA – LTA – NFKBIL1 – BAT1 loci: Preliminary results of association study with diabetic nephropathy and retinopathy
KAŇKOVÁ, Kateřina; Lukáš PÁCAL; Michal JURAJDA; Petr KOLÁŘ; Lydie IZAKOVIČOVÁ HOLLÁ et al.Základní údaje
Originální název
Haplotype analysis of the region of 6p chromosome spanning the AGER – TNFA – LTA – NFKBIL1 – BAT1 loci: Preliminary results of association study with diabetic nephropathy and retinopathy
Název česky
Haplotypová analýza chromosomu 6p zahrnující AGER – TNFA – LTA – NFKBIL1 – BAT1 lokusy: Predběžné výsledky asociační studie u diabetické nefropatie a retinopatie
Vydání
2006
Další údaje
Jazyk
angličtina
Typ výsledku
Konferenční abstrakt
Obor
30202 Endocrinology and metabolism
Stát vydavatele
Velká Británie a Severní Irsko
Utajení
není předmětem státního či obchodního tajemství
Označené pro přenos do RIV
Ano
Kód RIV
RIV/00216224:14330/06:00015475
Organizační jednotka
Fakulta informatiky
Klíčová slova anglicky
diabetic complications; retinopathy; haplotype
Štítky
Příznaky
Mezinárodní význam, Recenzováno
Změněno: 2. 4. 2010 15:14, prof. MUDr. Kateřina Kaňková, Ph.D.
V originále
Aims: Previously we identified RAGE2 haplotype in the AGER gene as a risk factor for diabetic nephropathy (DN) and single nucleotide polymorphism (SNP) 252A/G in the LTA gene as a risk factor for both DN and proliferative diabetic retinopathy (PDR). Recently, multiple SNPs in the BAT1, NFKBIL1 and LTA genes have been found associated with myocardial infarction in the genome-wide association study. Detail analysis of the given MHC III region on chromosome 6p spanning the AGER – TNFA – LTA – NFKBIL1 – BAT1 loci could further elucidate the character of association and help to identify causal variant. The aims of the study were (1) to construct haplotypes based on genotypes of 13 SNPs in the five genes analysed and (2) to ascertain eventual association of ceratin haplotype(s) with DN and/or PDR. Methods: A total of 981 subjects comprising four groups (DM+DN, DM+PDR, DM without complications and non-DM) were included in the study. Genotypes were detected with PCR-based methodology. Haplotypes were inferred in silico using Bayesian algorithm. Differences in haplotype frequencies were tested by permutation testing. After the correction for multiple comparisons Pcorr<0.05 was considered significant. Results: Single locus analysis revealed significant association of the AGER 2184G allele with both DN (23.0% DN vs. 15.2% non-DN, P<0.05) and PDR (23.6% PDR vs. 18.1% non-PDR, P<0.05). Haplotype distribution differed significantly between DN vs. non-DN groups (P<0.05, 10 000 permutations), no significant differences were found for PDR. Haplotypes containing minor alleles in positions AGER 2184 and LTA 252 were more frequent in DN group, similar (yet statistically insignificant) tendency was observed for PDR. Conclusions: Substitutions in AGER and LTA genes are responsible for observed differences in haplotype frequencies and are thus likely to be (or in the close proximity of) causal variants. Functional analysis of both substitutions is warranted.
Česky
Prace popisuje vysledky srovnavaci studie haplotypovych analyz u diabeticke nefropatie a retinopatie, konkretne SNPs v genech pro AGER a LTA jako varianty zodpovedne za pozorovane rozdily.
Návaznosti
| GA310/06/0827, projekt VaV |
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| KJB501620601, projekt VaV |
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