VARIASI GEN METHYLENETETRAHYDROFOLATE REDUCTASE PADA PREEKLAMPSIA; SEBUAH STUDI PENDAHULUAN PADA POPULASI JAMBI - Herlambang; Maharani, Citra; Puspasari, Anggelia (FAKULTAS KEDOKTERAN DAN ILMU KESEHATAN UNIVERSITAS JAMBI, 2021)
ABSTRACTBackground: Pre-eclampsia is a major cause of maternal and neonatal mortality and morbidity. The pathogenesismechanism of pre-eclampsia involves the interaction of genetic and environmental factors. Genetic variation in thegene MTHFR C677T (C> T transition) alter activity of MTHFR enzyme and predictrisk for pre-eclampsia but withconflicting results in worldwide population. This study aimed to investigate the association between gene variationof 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 withpre-eclampsia and 30 normal pregnant women. Pre-eclampsia was diagnosed by elevated blood pressure (systolicbloodpressure ≥140 mmHg or diastolic blood pressure ≥90 mmHg) after 20 weeks of gestation.All samples wereethnic malay living in Jambi. The two groups were matched by age, gravida and parity. The Amplification RefractoryMutation System - Polymerase Chain Reaction was used for genotyping.Result and Conclusion: Association between the gene variation of MTHFR C667T and preeclampsia wasassessed using bivariate analysis with p<0,05. Statistical analysis of the additive model showed that the frequencyof TT genotype in thepre-eclamptic group was higher than normal pregnant women but did not show a significantdifference (OR = 0,833; 95% CI = 0,170 – 4,088; p= 0,568). Our study resultsuggest that the MTHFR C677T genevariation is not a risk factor for pre-eclampsia in theJambi malay population.Keywords: gene variation, Methylenetetrahydrofolate Reductase gene, MTHFR C677T, preeclampsiaABSTRAKPendahuluan: Mekanisme patogenesis preeklampsia melibatkan interaksi faktorgenetik dan lingkungan. Variasigenetik pada gen Methylenetetrahydrofolate Reductase (MTHFR) C677T (C>T transisition) menyebabkanpenurunan aktivitas enzim MTHFR yang berpengaruh pada peningkatan homosistein dan berkaitan dengankejadian preeklampsia. Penelitian ini bertujuan untuk mengetahui asosiasi antara variasi gen MTHFR C667Tdengan preeklampsia pada populasi melayu Jambi.Metode: Penelitian ini menggunakan rancangan kasus-kontrol. Kamimembandingkan dua subyek grup; 30 wanitahamil dengan preeklampsia dan 30 wanita hamil normal. Diagnosis preeklampsia ditentukan dengan adanyapeningkatan tekanan darah (tekanan darah sistolik ≥140 mmHg atau tekanan darah diastolik ≥90mmHg) setelah 20minggu kehamilan. Seluruh sampel merupakan etnis melayu yang berdomisili di provinsi Jambi. Kedua grup telahdicocokan berdasarkan usia ibu, gravida dan paritas. Pemeriksaan genotyping menggunakan metodeAmplification Refractory Mutation System - Polymerase Chain Reaction.Hasil: Asosiasiantara variasi gen MTHFR C677T dengan preeklampsia dinilai menggunakan analisis bivariatdengan p<0,05. Analisis statistik model additive menunjukkan frekuensi genotype TT pada kelompok hamil denganpreeklampsia 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 terhadapkejadian preeklampsia pada populasi melayu Jambi.Kata kunci: variasi genetik, gen Methylenetetrahydrofolate Reductase, MTHFR C677T, preeklampsia