Faktor Risiko Non Genetik dan Polimorfisme Promoter RegionGen CYP11B2Varian T(-344)C Aldosterone Synthasepada Pasien Hipertensi Esensial di Wilayah Pantai dan Pegunungan
DOI:
https://doi.org/10.21776/ub.jkb.2013.027.03.8Abstract
Hipertensi  esensial  disebabkan  oleh  multifaktorial  dan  merupakan  penyakit  yang  kompleks  karena  melibatkan  faktor genetik  dan  lingkungan  atau  interaksi  antara  keduanya.  Polimorfisme  kandidat  gen  secara  genetik  menentukan  terjadinya hipertensi esensial. Salah satu polimorfisme yang berhubungan dengan hipertensi adalah gen  CYP11B2   varian  T(–344)C sebagai gen penyandi aldosterone synthase.   Penelitian ini  bertujuan untuk menganalisis interaksi   antara faktor risiko non  genetik  dengan  polimorfisme  promoter  region  gen  CYP11B2  varian  T(-344)C  pada  pasien   hipertensi  esensial   di wilayah pantai dan pegunungan, dengan desain case control study. Jumlah sampel  masing-masing kelompok kasus dan kontrol sebanyak 50 orang, sehingga keseluruhan sampel penelitian  sejumlah 100 orang.  Penentuan polimorfisme gen CYP11B2  varian  T(-344)C  menggunakan  isolasi  DNA,  polymerase  chain  reaction  (PCR)  dan  analisis  hasil  restrictrictionfragment lenght polymorphism (RFLP). Penelitian ini telah mengidentifikasi adanya polimorfisme  promoter region  gen CYP11B2  sebesar  8,3%  pada  pasien  hipertensi  esensial  di  wilayah  pantai.  Polimorfisme  berupa  adanya  mutasi  basa thymine (T) menjadi cytosine (C) pada kodon -344 pada 2 (dua) pasien hipertensi esensial di wilayah pantai. Kerentanan genetik  ditemukan  pada  individu  dengan  genotip  homozigot  TT  3  (tiga)  kali  lebih  banyak  daripada  genotip  heterozigot  TC yang  mengalami  hipertensi  esensial  baik  di  wilayah  pantai  maupun pegunungan  dan   genotip  homozigot  TT  ditemukan  8 (delapan) kali lebih banyak dari pada genotip homozigot CC di wilayah pantai. Penelitian ini memperkuat bahwa genotip TT  dan  alel  -344T  berkaitan  dengan  kecenderungan  genetik  terjadinya  hipertensi  esensial.Downloads
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