J 2003

Relationship between genetic polymorphisms within the pro-oxidant/antioxidant systems and diabetic nephropathy - preliminary results

KAŇKOVÁ, Kateřina a Miluše HERTLOVÁ

Základní údaje

Originální název

Relationship between genetic polymorphisms within the pro-oxidant/antioxidant systems and diabetic nephropathy - preliminary results

Název česky

Vztah mezi genetickym polymorfizmem v pro-oxidacne/antioxidacnim systemu a diabetickou nefropatii - predbezne vysledky

Autoři

KAŇKOVÁ, Kateřina a Miluše HERTLOVÁ

Vydání

Diabetologia, Germany, Springer Verlag Berlin, 2003, 0012-186X

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30202 Endocrinology and metabolism

Stát vydavatele

Německo

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 5.689

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/03:00008084

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

diabetes; polymorphisms; antioxidant; diabetic nephropathy
Změněno: 24. 6. 2009 15:23, prof. MUDr. Kateřina Kaňková, Ph.D.

Anotace

V originále

Background and Aims: Association of selected genetic polymorphisms in genes encoding for glyoxalase I (A111E GLYI), paraoxonase (R192Q and M55L PON), NAD(P)H: quinone oxidoreductase (P187S NQO1) and methylenetetrahydrofolate reductase (677C/T MTHFR) with diabetic nephropathy (DN) in patients with both type 1 and type 2 diabetes mellitus was studied. Further, interactions of studied polymorphisms with previously associated polymorphism 2184A/G in the gene for receptor of advanced glycation end products (2184A/G RAGE) were investigated. Materials and Methods: A total of 318 Caucasian subjects was so far enrolled in the association study: diabetics with parallel DN (n=135, mean age 63.7) and diabetics without DN (n=183, mean age 64.5). DN group comprised patients with (i) persistent proteinuria, (ii) chronic renal failure and (iii) end-stage renal disease (ESRD) with regular hemodialysis. Allele frequencies of polymorphisms were determined by polymerase chain reaction based methodology. Results: Significant difference in allele frequencies of the P187S NQO1 between DN and non-DN group was found; frequency of the P allele was higher in DN group (19.5% vs. 14.1%). Moreover, marginally significant association of allele T with DN was detected for the 677C/T MTHFR polymorphism (P=0.07); 36.7% in DN group vs. 32.1% in non-DN group. Nor PON Q192R neither M55L allele frequencies did not differed significantly, however, frequency of 192R was higher in DN than in non-DN group (28.9% vs. 25.7%). Frequencies of combined genotype combinations of MTHFR, NQO1 and PON polymorphisms were not significantly different between the DN and non-DN groups, however, proportion of a combination TT-SS-RR was apparently higher in the DN group. Similarly, frequencies of twofold genotype combinations of studied polymorphisms and 2184A/G RAGE did not differed significantly, which might indicate their independent asset to DN susceptibility. Conclusions: The preliminary data indicate that certain polymorphisms in genes encoding pro-oxidant/antioxidant enzymes could be regarded as contributors to genetic risk factors for DN. Association of these polymorphisms with susceptibility to develop DN and rate of progression and severity of DN is a subject of larger ongoing study.

Česky

Predbezne vysledky naznacuji, ze existuje vztah mezi genetickou variabilitou antioxidacnich enzymu a nachylnosti k rozvoji diabeticke nefropatie

Návaznosti

GP303/02/D127, projekt VaV
Název: Vztah genetické variability antioxidačního systému k pozdním komplikacím diabetu mellitu
Investor: Grantová agentura ČR, Vztah genetické variability antioxidačního systému k pozdním komplikacím diabetu mellitu
MSM 141100002, záměr
Název: Molekulární patofyziologie multigenních chorob
Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární patofyziologie multigenních chorob