VARIASI GEN METHYLENETETRAHYDROFOLATE REDUCTASE PADA PREEKLAMPSIA; SEBUAH STUDI PENDAHULUAN PADA POPULASI JAMBI

Abstract

ABSTRACT
Background: Pre-eclampsia is a major cause of maternal and neonatal mortality and morbidity. The pathogenesis
mechanism of pre-eclampsia involves the interaction of genetic and environmental factors. Genetic variation in the
gene MTHFR C677T (C> T transition) alter activity of MTHFR enzyme and predictrisk for pre-eclampsia but with
conflicting results in worldwide population. This study aimed to investigate the association between gene variation
of MTHFR C677T with pre- eclampsia in Jambi malay population.
Method: This study was a case-control design. We compared the two subject groups; 30 pregnant women with
pre-eclampsia and 30 normal pregnant women. Pre-eclampsia was diagnosed by elevated blood pressure (systolic
bloodpressure ≥140 mmHg or diastolic blood pressure ≥90 mmHg) after 20 weeks of gestation.All samples were
ethnic malay living in Jambi. The two groups were matched by age, gravida and parity. The Amplification Refractory
Mutation System - Polymerase Chain Reaction was used for genotyping.
Result and Conclusion: Association between the gene variation of MTHFR C667T and preeclampsia was
assessed using bivariate analysis with p<0,05. Statistical analysis of the additive model showed that the frequency
of TT genotype in thepre-eclamptic group was higher than normal pregnant women but did not show a significant
difference (OR = 0,833; 95% CI = 0,170 – 4,088; p= 0,568). Our study resultsuggest that the MTHFR C677T gene
variation is not a risk factor for pre-eclampsia in theJambi malay population.
Keywords: gene variation, Methylenetetrahydrofolate Reductase gene, MTHFR C677T, preeclampsia
ABSTRAK
Pendahuluan: Mekanisme patogenesis preeklampsia melibatkan interaksi faktorgenetik dan lingkungan. Variasi
genetik pada gen Methylenetetrahydrofolate Reductase (MTHFR) C677T (C>T transisition) menyebabkan
penurunan aktivitas enzim MTHFR yang berpengaruh pada peningkatan homosistein dan berkaitan dengan
kejadian preeklampsia. Penelitian ini bertujuan untuk mengetahui asosiasi antara variasi gen MTHFR C667T
dengan preeklampsia pada populasi melayu Jambi.
Metode: Penelitian ini menggunakan rancangan kasus-kontrol. Kamimembandingkan dua subyek grup; 30 wanita
hamil dengan preeklampsia dan 30 wanita hamil normal. Diagnosis preeklampsia ditentukan dengan adanya
peningkatan tekanan darah (tekanan darah sistolik ≥140 mmHg atau tekanan darah diastolik ≥90mmHg) setelah 20
minggu kehamilan. Seluruh sampel merupakan etnis melayu yang berdomisili di provinsi Jambi. Kedua grup telah
dicocokan berdasarkan usia ibu, gravida dan paritas. Pemeriksaan genotyping menggunakan metode
Amplification Refractory Mutation System - Polymerase Chain Reaction.
Hasil: Asosiasiantara variasi gen MTHFR C677T dengan preeklampsia dinilai menggunakan analisis bivariat
dengan p<0,05. Analisis statistik model additive menunjukkan frekuensi genotype TT pada kelompok hamil dengan
preeklampsia lebih tinggi dibandingkan wanita hamil normal namun tidak menunjukkan perbedaan bermakna
(OR=0,833; 95% CI=0,170 – 4,088; p=0,568).
Kesimpulan: Hasil penelitian memberikan kesan variasi gen MTHFR C677T bukan sebagai faktor risiko terhadap
kejadian preeklampsia pada populasi melayu Jambi.
Kata kunci: variasi genetik, gen Methylenetetrahydrofolate Reductase, MTHFR C677T, preeklampsia