Nöropsikiyatri Arşivi; 2013;50(2):110-115
Multipl Skleroz ile Apolipoprotein E Genetik Polimorfizmi Arasındaki İlişki
N Taşdemir, Y Tamam, M Yalman
Dicle University, Diyarbakır
Background: Although the etiology of multiple sclerosis (MS) has not yet been
clearly elucidated, MS is a chronic inflammatory disease, in which genetic and
environmental factors are involved. The association between apolipoprotein E
(APOE) genetic polymorphisms and various neurodegenerative diseases,
including MS, is controversial. In the current study, specific APOE genotypes
were investigated in patients with MS.
Methods: Fifty patients clinically diagnosed with MS and 30 healthy volunteers
were included in the study. The APOE genotype was identified via the polymerase
chain reaction (PCR) method. The patient and control groups were compared in
terms of the frequency of APOE genotypes.
Results: The APOE genotype distribution in the patient group was as follows: ?3/?3,
82.0%; ?3/?4, 12.0%; and ?2/?3, 6.0%. There were no significant differences between
the patient and control groups with respect to the frequency of APOE genotypes,
and APOE ?4 allele carriage (p=0.56). However, the frequency of APOE ?4 allele
carriers were significantly higher among male patients (p=0.007).
Conclusion: These findings suggest that the APOE genotype has no effect on
susceptibility to MS. Further studies with larger sample sizes to be able to include all
APOE genotypes are warranted. Identification of genetic factors that may have a role
in the etiology of MS will make a substantial contribution to the knowledge of the
prevention and treatment of MS.
The Association Between Apolipoprotein E Genetic Polymorphisms and Multiple Sclerosis
Amaç: Multipl skleroz (MS) henüz nedeni çok iyi aydinlatilamamis olmakla birlikte
genetik ve çevresel faktörlerin etkisiyle ortaya çikan kronik inflamatuar bir hastaliktir.
MS dahil çesitli nörodejeneratif hastaliklar ile apolipoprotein E (APOE) genetik
polimorfizmi arasindaki iliski tartismalidir. Bu çalismada MS’li hastalarda belirli APOE
genotipleri arastirildi.
Yöntem: Klinik olarak MS tanisi almis 50 hasta ve saglikli 30 kisi çalismaya alindi.
APOE genotipi PCR yöntemiyle belirlendi. APOE genotiplerinin hasta ve kontrol
grubunda görülme sikliklari karsilastirildi.
Bulgular: APOE genotip dagilimi MS grubunda sirayla ?3/?3 %82,0, ?3/?4 %12,0, ?2/?3
%6,0 idi. MS ve kontrol grubu arasinda genotiplerin görülme oranlarinda belirgin
farkliliklar yoktu ve ?4 tasiyiciligi açisindan anlamli fark saptanmadi (p=0,56). Ancak
MS hastalarinda erkek cinsiyette ?4 tasiyiciligi anlamli olarak yüksek bulundu
(p=0,007).
Sonuç: Sonuçlarimiz APOE genotipinin MS’a yatkinlik üzerinde etkisinin olmadigini
düsündürmüstür. Daha fazla olgu ile tüm genotipleri kapsayacak sekilde genis kapsamli
çalismalara gerek vardir. Etiyolojide rolü olabilecek genetik faktörlerin aydinlatilmasi MS
hastaliginin önlenmesi ve tedavi edilmesinde yararli bilgiler saglayacaktir