Tesis

Analisis Polimorfisme Gen Vitamin D Receptor dan Gen Group-Specific Component dengan Diabetes Melitus Tipe 2 dan Non-Diabetes pada Etnis Jawa di Jakarta = Analysis of Vitamin D Receptor (VDR) and Group- spesific Component (GC) Gene Polymorphisms in Type 2 Diabetes Mellitus and Non-Diabetes among Javanese Ethnicity in Jakarta.

Diabetes melitus (DM) tipe 2 merupakan penyakit multifaktorial dengan prevalensi yang terus meningkat, termasuk di Indonesia, khususnya di DKI Jakarta. Etnis Jawa sebagai kelompok etnis terbesar di Jakarta, memiliki prevalensi DM tipe 2 dan defisiensi vitamin D yang cukup tinggi. Kondisi ini diduga berkaitan dengan polimorfisme gen Vitamin D Receptor (VDR) dan Group-Specific Component (GC) yang berperan dalam metabolisme dan fungsi vitamin D serta berkontribusi terhadap peningkatan risiko DM tipe 2. Penelitian ini bertujuan untuk menganalisis hubungan polimorfisme gen VDR rs2228570 dan gen GC rs7041 dengan kejadian DM tipe 2 pada etnis Jawa di Jakarta. Penelitian ini merupakan studi potong lintang komparatif pada 101 subjek etnis Jawa di Jakarta, terdiri dari 50 penderita DM tipe 2 dan 51 subjek non-DM. Data dikumpulkan melalui wawancara untuk menilai asupan vitamin D dan paparan sinar matahari, pengukuran antropometri, dan pemeriksaan darah. Kadar vitamin D dianalisis menggunakan metode ELISA, sedangkan polimorfisme gen VDR rs2228570 dan GC rs7041 dianalisis dengan metode PCR-RFLP. Hasil menunjukkan bahwa terdapat perbedaan bermakna antara kelompok DM tipe 2 dan non-DM dalam variabel usia, riwayat keluarga DM tipe 2, dan paparan sinar matahari. Namun, tidak ditemukan perbedaan signifikan pada status gizi, asupan vitamin D, dan kadar vitamin D. Distribusi genotipe dan alel gen VDR rs2228570 serta GC rs7041 tidak berbeda bermakna antara kedua kelompok. Analisis lebih lanjut juga menunjukkan tidak terdapat hubungan yang signifikan secara statistik antara kedua polimorfisme gen tersebut dengan kejadian DM tipe 2. Dengan demikian, dapat disimpulkan bahwa polimorfisme gen VDR rs2228570 dan GC rs7041 tidak berhubungan dengan DM tipe 2 pada populasi etnis Jawa di Jakarta.
Kata kunci: diabetes melitus tipe 2, polimorfisme gen, Vitamin D Receptor, Group-specific Component, etnis Jawa


Type 2 diabetes mellitus (T2DM) is a multifactorial disease with a steadily increasing prevalence worldwide, including in Indonesia, particularly in the Special Capital Region of Jakarta. The Javanese ethnic group, which is the largest ethnic group in Jakarta, exhibits a relatively high prevalence of both T2DM and vitamin D deficiency. This condition is suspected to be associated with polymorphisms in the Vitamin D Receptor (VDR) gene and the Group-Specific Component (GC) gene, which play important roles in vitamin D metabolism and function, and may contribute to an increased risk of T2DM. This study aimed to analyze the association between VDR rs2228570 and GC rs7041 gene polymorphisms and the incidence of T2DM in the Javanese ethnic population in Jakarta. This study used a comparative cross-sectional design involving 101 Javanese subjects in Jakarta, consisting of 50 individuals with T2DM and 51 nonDM individuals. Data were collected through interviews to assess vitamin D intake and sun exposure, anthropometric measurements, and blood tests. Serum vitamin D levels were analyzed using the ELISA method, while VDR rs2228570 and GC rs7041 gene polymorphisms were analyzed using the PCR-RFLP method. The results showed significant differences between the T2DM and non-DM groups in terms of age, family history of T2DM, and sunlight exposure. However, there were no significant differences in nutritional status, vitamin D intake, or serum vitamin D levels. The distribution of genotypes and alleles of both VDR rs2228570 and GC rs7041 polymorphisms did not differ significantly between the two groups. Further analysis also revealed no statistically significant associations between these gene polymorphisms and the incidence of T2DM. In conclusion, VDR rs2228570 and GC rs7041 gene polymorphisms were not associated with T2DM in the Javanese ethnic population in Jakarta.
Key words: type 2 diabetes mellitus, gene polymorphism, Vitamin D Receptor, Group-Specific Component, Javanese ethnicity