Scanning SNPs of Diabetes Mellitus related genes; HNF4A, PTPN, KCNJ11, PPAR gamma; among Thalassemia Patients: a Preliminary Study

Thalassemia is one of health problem which is a burden on the Indonesian government. Thalassemia problems include wide-spreading, and clinical conditions, therapy management, and complications. One of the significant difficulties that cause mortality is due to Diabetes Mellitus (DM). This preliminary study aimed to explore the genotyping of SNPs on the genes related with DM in thalassemia patients in Indonesia. The study used a cross-sectional design involving 103 samples from stored DNA patients in Banyumas. There were four genes about DM; HNF4A, PTPN, KCNJ11, and PPAR gamma; which characterized using the PCR-RFLP based technique with appropriate restriction enzymes. The results showed that there was existence of SNP related to diabetes mellitus in thalassemia patients. The T130I (rs1800961) of HNF4A gene has a proportion of genotypes 79% CC, 16% CT, and 5% TT with minor allele frequency (MAF) 13%. The genotype distribution of PTPN gene 1023 C> A were 68% for CC, 30% CA, 2% AA and MAF 17%. PTPN gene of 467 T> C has percentage of CC 90%, CT 10%, and MAF 5%. The KCNJ11 gene at position rs 5219 had a portion of glutamic acid 46% and lysine 54%. Whereas, Pro12Ala (rs18012282) of PPAR gamma; gene has a genotype proportion of CC 94%, CG 5%, GG 1% and MAF 4%. The genotyping of DNA patients revealed the presence of DM-related genes in thalassemia. The coexistence of mutants may relate with the clinical condition. Further study, especially in genotype-phenotype relation is essential to explore the influence of the mutants in worsening the affected people.