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RINNY ARDINA

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Abstrak (Bhs. Indonesia)

Kasus Diabetes mellitus tipe 2 (DMT2) terjadi karena interaksi kompleks antara faktor genetik dengan faktor lingkungan. Salah satu faktor genetik yang berkaitan dengan kerentanan terhadap DMT2 adalah polimorfisme gen TCF7L2 (rs7903146-C>T). Gen TCF7L2 berperan dalam aktivasi banyak gen jalur sinyal Wnt domain downstream dan produksi hormon GLP-1. Jalur Wnt dan hormon GLP-1 ini penting dalam fungsi homeostasis glukosa di dalam darah. Tujuan penelitian untuk mengetahui distribusi genotip dan frekuensi alotip gen TCF7L2 (rs7903146-C>T) penderita Diabetes mellitus tipe 2 pada populasi etnis Dayak di Palangka Raya. Metode yang digunakan untuk menganalisis polimorfisme gen TCF7L2 (rs7903146-C>T) adalah teknik PCR-RFLP pada situs restriksi SspI. Subyek penelitian adalah penderita DMT2 sejumlah 30 individu. Hasil penelitian ini menemukan genotip homozigot wild type (CC) sebanyak 28 individu (93,3%), heterozigot mutan (CT) yang berisiko DMT2 sebanyak 2 individu (6,7%), dan tidak ditemukan homozigot mutan (TT) (0%). Distribusi genotip gen ini tidak menyimpang dari Hardy-Weinberg Equilibrium (p=0,8501 atau p>0,05). Dengan demikian, ditemukan frekuensi alel mutan (T) yang berisiko terhadap DMT2 sebesar 3,3% pada populasi etnis Dayak di Palangka Raya yang sesuai dengan beberapa populasi di wilayah Asia Timur, sedangkan frekuensi alel wild type (C) sebesar 96,7%.

Abtrak (Bhs. Inggris)

The type 2 diabetes mellitus (T2DM) occurs due to complex interactions between genetic and environmental factors. The TCF7L2 gene (rs7903146-C>T) polymorphism is one of genetic factors that is associated with T2DM susceptibility. This gene plays a role in the activation of many genes downstream of the Wnt signaling pathways and production of GLP-1 hormone. They are important in blood glucose homeostasis. This study aimed to explore genotype distribution and allotype frequency of TCF7L2 gene (rs7903146-C>T) in Dayak ethnic population in Palangka Raya. The polymorphism was genotyped with PCR-RFLP method on restriction site of SspI enzyme. A total of 30 subjects with T2DM were enrolled in this study. Two genotypes were observed in Dayak ethnic Population with T2DM. Homozygote wild type genotype (CC) which is characterized by having 139 bp fragments and heterozygote mutant genotype (TT) which is characterized by having 139 bp, 111 bp dan 28 bp fragments. The distribution of homozygote wild type (CC) was of 28 subjects (93.3%), heterozygote mutant (CT) that risk for T2DM was of 2 subjects (6.7%), and homozygote mutant (TT) was not observed (0=0%). The genotype distribution of this gene was parallel to the Hardy-Weinberg Equilibrium where (p=0,8501 or p>0,05). Thus, the frequency of mutant allele (T) that risk for T2DM was of 3.3% and it was similar with some populations in the East Asia, whereas wild type allele (C) was of 96.7%.

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