APOLIPOPROTEIN E SEBAGAI FAKTOR RISIKO TIMBULNYA PENYAKIT JANTUNG KORONER: Kajian Genetika Populasi dan Genetika Klinis pada Beberapa Kelompok Etnik di Indonesia

Pramudji Hastuti, Dra.Apt.,M.S, Prof. dr. Abdul Salam M. Sofro Ph.D.

2012 | Disertasi | S3 Kedokteran Umum

Variasi alel apolipoprotein E (apoE) mempengaruhi kadar kolesterol total dan low density lipoprotein kolesterol (LDL-C) dan diperkirakan sebagai faktor risiko penyakit jantung koroner (PJK). Penelitian ini bertujuan untuk mengetahui hubungan antara polimorfisme apoE dan risiko PJK. Penelitian ini juga bertujuan untuk mengetahui distribusi alel apoE pada 3 populasi sehat di Indonesia Sampel darah diperoleh dari 33 orang penderita PJK di RSUP Dr. Sardjito Yogyakarta dan 38 orang kontrol dengan metoda potong lintang serta 195 orang dari 3 populasi dari kawadan Indonesia barat, tengah dan timur. Variasi alel apoE dianalisa dengan Polymerase chain reaction dan restriction fragment length polymorphism. Hasil yang diperoleh dianalisis dengan t-tes dan dinyatakan berbeda bermakna dengan p < 0,05, sedangkan faktor risiko PJK dihitung dengan odd ratio. Frekuensi alel apoE ε2, ε2 dan ε4 pada penderita PJK masing-masing 12,1%, 69,7% dan 18,2% sedangkan pada control masing-masing 18,4%, 72,4% dan 9,2%. Alel apoE ε4 merupakan faktor risiko PJK 2 kali lebih besar disbanding alel lainnya. Frekuensi apoE ε2, ε2 and ε4 di Indonesia barat masing-masing 20,7%, 70,1% dan 9.2%; di Indonesia tengah masing-masing 24,2%, 61,8% dan 14,0% dan Indonesia timur masing-masing 26,7%, 46,6% dan 26,6%. Alel apoE ε4 adalah faktor risiko PJK masing-masing 2 dan 1,15 lebih besar untuk Indonesia barat dan tengah. Alel apoE ε4 adalah faktor risiko PJK di Indonesia barat dan tengah. Alel apoE antara kawasan barat dan tengah Indonesia tidak berbeda bermakna sedangkan antara kawasan barat dan tengah Indonesia berbeda bermakna dengan kawasan timur Indonesia.

Allelic variation of apolipoprotein E (apo E) has been shown to influence the concentrations of total cholesterol and low density lipoprotein cholesterol (LDL-C) and considered to play a role as one of risk factors for coronary heart disease (CHD). The aim of this study was to examine the relationship between Apo E polymorphism and the risk of CHD. This study also examined the distribution of apoE alleles in a three healthy populations of Indonesia. Blood samples were collected from 33 samples from CHD patients in Dr. Sardjito Hospital Yogyakarta, and 38 healthy control individuals in a cross sectional study. In addition 195 samples from 3 ethnics populations of Indonesia i.e. from the western, middle and eastern region of Indonesia were collected for population study. The common allelic variants of ApoE were screened employing polymerase chain reaction and restriction fragment length polymorphism. The results obtained were analyzed by t-test and significantly different if p <0.05 and risk factor was calculated by odd ratio. Frequency of ApoE ε2, ε2 and ε4 alleles in CHD patients were 12.1%, 69.7% and 18.2% while in controls were 18.4%, 72.4% and 9.2% respectively. ApoE ε4 allele was one among risk factor for CHD which was twice times higher than those other genotypes. The frequency of ApoE ε2, ε2 and ε4 alleles in the western part of Indonesia were 20.7%, 70.1% and 9.2%; in the middle part of Indonesia were 24.2%, 61.8% and 14.0% and in the eastern part of Indonesia were 26.7%, 46.6% and 26.6% respectively. ApoE ε4 allele was likely to be risk factor for CHD in the western and middle part of Indonesia with OR 2 and 1.15 respectively. ApoE ε4 allele was one of risk factors for CHD in the western and the middle part of Indonesia. ApoE alleles between the western and middle part of Indonesia was not significantly different, while the western and middle part of Indonesia significantly different with the eastern part of Indonesia.

Kata Kunci : ApolipoproteinE, penyakit jantung koroner, genentika populasi, genetika klinis