POLIMORFISME GEN IODOTIRONIN DEIODINASE TIPE 1 (D1) DAN KADAR HORMON TIROID PADA WANITA USIA SUBUR DI DAERAH ENDEMIK GAKI

Abstract

Background. Type 1 iodothyronine deiodinase (D1) is selenodeiodinase whichplays a role in activation of thyroid hormones into T3 form and deactivation intoreverse T3 (rT3) form. D1 provides T3 hormone during euthyroid conditions. Singlenucleotide polymorphisms (SNPs) in D1 gene associated with thyroid hormonelevels in the body. Objective. This study aims to determine gene polymorphism ofD1-C/T and D1-A/G and analyze its effect on thyroid hormone (fT3 and fT4) levelsin reproductive age women in IDD (Iodine Deficiency Disorder) endemic areas.Method. Total of subjects were 131 women in Samigaluh Subdistrict, Kulon ProgoDistrict, Yogyakarta. Level of thyroid hormone and polymorphism of D1 were analyzedusing ELISA (Enzyme Linked Immunosorbent Assay) and PCR-RFLP (PolymeraseChain Reaction-Restriction Fragment Length Polymorphism) respectively. Result.The results showed that all subjects are euthyroid with average level of fT3 2.11± 0.43 pg/ml and fT4 1.24 ± 0.26 ng/dl (normal range of fT3 = 1.4 – 4.2 pg/ml;fT4 = 0.8 - 2 ng/dl). Polymorphisms found in D1-C/T gene with genotype frequencyof CC are 68.7%, CT are 27.5% and TT are 3.8%, with the frequency of allele Cand T are 82.4% and 17.6% respectively. Polymorphisms in D1-C/T did not affectfT3 and fT4 level (P >0.05). While D1-A/G gene did not reveal any polymorphisms,consist of homozygous AA (100%). The subject is in ideal population in accordancewith The Hardy-Weinberg Equilibrium Model, where allel and genotype frequenciesin population will remain constant from generation to generation.Conclusion.Polymorphisms in D1-C/T did not affect fT3 and fT4 level. Polymorphisms in D1-C/Tdid not found in D1-A/G gene. Genotipe of D1-A/G gene in all subject was homogen,which is AA homozigot.Keywords: D1-A/G, D1-C/T, fT3, fT4, polymorphism