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Abstract

ASSOCIATION OF PHOSPHODIESTERASE 8B GENE POLYMORPHISM (RS4704397) IN SUDANESE WOMEN WITH HYPERTHYROIDISM

Sana Abd Elgany Yousif*, Hanan Babiker Eltahir, Mariam Abbas Ibrahim and Amar Mohamed Ismail

ABSTRACT

Hyperthyroidism is a common disorder in some parts of Sudan especially among women. It is assumed that gene polymorphisms in enzymes acting in TSH signaling pathway may stimulate FT3 and FT4 secretion. The study aims to assess the role of phosphodiesterase 8B (rs4704397) gene polymorphism in hyperthyroidism Sudanese patients and its relation with thyroid hormones level. Thirty women with Hyperthyroidism and thirty apparently healthy controls were included after informed consent. Sera were separated from blood and were tested for TSH, FT3, FT4 levels by ELISA. Blood genomic DNA was isolated, PCR amplification was performed using primers for intron 1 of the phosphodiesterase 8B Gene and then digested by BslI restriction enzyme. (PCR-RFLP) genotyping showed that the GG, AA and GA genotypes were10%, 70% & 20% for patients and 33.3%, 36.7% & 30% for the control group, respectively while the allele frequency for the mutant A and the normal G were found to be 48 (80%), 12 (20%) for patients and 31 (51.7%), 29 (48.3%) for controls. There was statistically significant decrease of normal G allele and significant increase of mutant A allele when compare hyperthyroidism patients group with control groups (p = 0.001). There was significant association between goiterous and un goiterous hyperthyroidism patients in allele frequency for the mutant A and the normal G (p = 0.001), but not associated with family history (p =0.12), also there was significant decrease in TSH levels (p = 0.01), and significant increase in FT3 (p = 0.001), when compare normal allele with mutant allele but FT4 not affected (p = 0.23). These results suggest that the phosphodiesterase 8B Gene (rs4704397) polymorphism may associated with the development of hyperthyroidism in Sudanese population. The study concludes that there is a significant association between PDE8B (rs4704397) gene polymorphism and the occurrence of hyperthyroidism in Sudanese population. There is a significant decrease in TSH levels and increase in FT3 in patients with the mutant allele A while FT4 level as not affected.

Keywords: Phosphodiesterase 8B, Gene polymorphism (rs4704397), Hyperthyroidism, ELISA, PCR-RFLP.


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