Zbornik - Društvo genetičara Srbije

216 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-13
Subotica, 30. novembar - 4. decembar 2004.
NIVO HOMOCISTEINA I MTHFR C677T GENOTIP KOD
BOLESNIKA SA KARDIOVASKULARNIM POREMEÆAJIMA
V. Šango 1 , I. Novakoviæ 2 , N. Antonijeviæ 3 , D. Mirkoviæ 4 , Lj. Lukoviæ 2 ,
T. Damnjanoviæ 2 , M. Stanojeviæ 3 , J. Perunièiæ 3 , Z. Vasiljeviæ 3 i M. Krajinoviæ 2
1
Laboratorija za medicinsku genetiku, ZC Jagodina, Jagodina
2
Institut za biologiju i humanu genetiku Medicinskog fakulteta, Beograd
3
Institut za kardiovaskularne bolesti KCS, Beograd
4
Institut za medicinsku biohemiju KCS, Beograd
Metilentetrahidrofolat reduktaza (MTHFR) je jedan od znaèajnih enzima u metabolizmu
homocisteina (Hci) koji katalizuje remetilaciju Hci u metionin. Hiperhomocisteinemija
je moguæi faktor rizika za kardiovaskularne bolesti (KVB), ukljuèujuæi aterosklerozu i
arterijske i venske tromboembolije, ali uloga MTHFR C677T polimorfizma u ovim
poremeæajima nije razjašnjena i brojne studije daju opreène rezultate. Naše istraivanje
smo preduzeli sa ciljem da se ispita udruenost MTHFR C677T genotipa i nivoa Hci kod
bolesnika sa infarktom miokarda (IM) i pluænom embolijom (PE).
U istraivanje je ukljuèeno 43 bolesnika sa IM (proseèna dob 42 god.) i 36 bolesnika sa
PE (proseèna dob 51 god.). Kontrolnu grupu je èinilo 38 zdravih osoba. Analiza MTHFR
genotipa je vršena PCR/RFLPs metodom, a nivo Hci u plazmi je odreðivan metodom
HPLC sa fluorescentnom detekcijom.
U grupi bolesnika sa IM bilo je 55.81% osoba sa C/C genotipom, 32.56% osoba sa C/T
genotipom i 11.63% osoba sa T/T genotipom. Kod bolesnika sa PE uèestalost genotipova
je bila: .45.71% za C/C, 42.85% za C/T i 11.42% za T/T genotip. Razlika u uèetalosti
genotipova izmeðu dve grupe bolesika sa KVB i kontrolne grupe nije bila statistièki
znaèajna. Prosešan nivo Hci u plazmi bolesnika sa IM bio je u okviru normalnih vrednosti:
11.93mol/l za C/C, 10.58mol/l za C/T i 9.68mol/l za T/T genotip. Kod bolesnika sa PE
naðene su blago povišene proseène vrednosti Hci u sve tri grupe genotipova: 15.25 mol/l
za C/C, 15.81 mol/l za C/T i 14.07 mol/l za T/T genotip. U našem istraivanju nije
utvrðena povezanost izmeðu MTHFR 677 genotipa i nivoa Hci kod bolesnika sa IM i PE.
HOMOCYSTEINE LEVELS AND MTHFR C677T GENOTYPES
IN PATIENTS WITH CARDIOVASCULAR DISEASES
Methylentetrahydropholate reductase (MTHFR) is one of the important enzymes involved in
homocysteine (Hcy) metabolism controlling remethylation Hcy to methionine. Hyperhomocysteinemia
is a possible risk factor in cardiovascular diseases (CVD) including atherosclerosis
and arterial and venous thrombosis, but role of MTHFR C677T polymorphism in CVD is
not clearly understood, and results of number of studies are controversial.
We assessed the association between MTHFR C677T genotypes and homocysteine levels
in patients with myocardial infarction (MI) and pulmonary embolism (PE).
Our group involved 43 patients with acute MI (mean age 42 y) and 36 patients with PE
(mean age 51 y). Control group had 38 healthy subjects. MTHFR genotypes were analyzed
using PCR/RFLPs method. Total plasma Hcy concentration was measured using
HPLC with fluorescence detection. In a group of patients with MI we found 55.81% C/C
homozygous genotypes, 32.56% C/T heterozygous genotypes and 11.63% T/T homozygous
genotypes. In a PE group we detected 45.71% C/C, 42.85% C/T and 11.42% T/T
genotypes. There was no significant difference in MTHFR genotype frequencies between
two group of CVD patients and control subjects. Mean Hcy levels in MI patients were
within normal range: 11.93mol/l, 10.58mol/l and 9.68mol/l for C/C, C/T, and T/T genotype,
respectively. In PE patients mean Hcy levels for all of three genotypes were
slightly elevated: 15.25 mol/l, 15.81 mol/l and 14.07 mol/l for C/C, C/T and T/T
group, respectively. We did not found association between MTHFR 677 genotypes and
homocysteine levels in patients with MI and PE.