Hubungan Polimorfisme Gen Reseptor Vitamin D- Taq1 (rs731236) Terhadap Kadar Vitamin D Plasma dan Grading Histologi Kanker Payudara

Abstract

Pendahuluan : Kanker payudara merupakan salah satu kanker yang paling sering dialami oleh wanita di seluruh dunia. Polimorfisme Taq 1 yang merupakan silent SNPs disebut menjadi faktor risiko terhadap kanker payudara. Tujuan penelitan adalah untuk mengetahui hubungan polimorfisme gen reseptor Vitamin D-Taq1 (rs 731236) terhadap kadar vitamin D plasma dan grading histologi pada penderita kanker payudara Metode : Sampel darah diambil dari 53 penderita kanker payudara kasus baru yang belum menjalani kemoterapi (Oktober 2017 sd Februari 2018). Isolasi DNA dan ampilifikasi gen dengan PCR. Polimorfisme Taq1 diperoleh melalui metode RFLP dengan enzim restriksi Taq1. Kadar 25 (OH)D diukur melalui pemeriksaan ELISA Hasil: Genotipe TT sebanyak 92,5%, genotipe TC 7,5%, genotipe CC 0 % dengan Hardy-Winberg Equilibrium (HWE) p= 0,77, nilai rerata kadar vitamin D pada subjek penelitian adalah sebesar 28,16 ng/ml (95% CI 25,71-30,60). Berdasarkan grading histologi, grade II memiliki persentase yang lebih banyak (49,1%) diikuti oleh grade III (41,5%) dan grade I (9,4%). Polimorfisme Taq1 dan kelompok kadar vitamin D memiliki hubungan yang signifikan (p=0,033) namun polimorfisme Taq1 dan grading histologi tidak signifikan (p=1,000), demikian pula hubungan kadar vitamin D dan grading histologi juga tidak signifikan (p=0,509) Kesimpulan: Terdapat hubungan yang signifikan antara polimorfisme gen reseptor vitamin D-Taq1 (rs 731236) terhadap kelompok kadar vitamin D plasma namun tidak signifikan terhadap grading histologi pada penderita kanker payudara. Hubungan yang tidak signifikan juga dijumpai antara kadar vitamin D dan grading histologi.

Preliminary : Breast cancer is one of the most common type of cancer among women in worldwide. Taq 1 polymorphisms that are silent SNPs have risk factors for breast cancer. The aim of research is to determine an association of vitamin D receptor gene polymorphism-Taq1 (rs 731236) to the plasma vitamin D levels and histological grading in breast cancer patients Methods : Blood samples were collected from 53 patients with new diagnosed breast cancer that have not received any chemotherapy (October 2017 to February 2018) DNA isolation and gene amplification with PCR. Taq1 polymorphism was examined by RFLP methods with Taq1 restriction enzyme. Levels of 25(OH)D were measured by ELISA examination Result: TT genotype was 92,5%, genotype TC 7,5%, genotype CC 0% with Hardy-Winberg Equilibrium (HWE) p = 0,77, mean value of vitamin D level in research subject was 28,16 ng / ml ( 95% CI 25,71-30,60). Based on histology grading, grade II has a higher percentage (49.1%) followed by grade III (41.5%) and grade I (9.4%). Taq1 polymorphism and group of vitamin D levels had significant relationship (p = 0.033) but Taq1 polymorphism and histological grading were not significant (p = 1,000), nor did the association of vitamin D levels and histological grading (p = 0,509) Conclusion: There is a significant relationship between vitamin D-Taq1 receptor gene polymorphism (rs 731236 )with group of vitamin D levels but not significant to histological grading in breast cancer patients. An insignificant association was also found between vitamin D levels and histologic grading.