Association between acromegaly and a single nucleotide polymorphism (rs543019827, rs547640100, rs545558970, rs2453837, and rs6953668 A/G) in the IGFBP3 gene in Iraqi Acromegaly Diabetic Patients

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Hend Majed Muhsen
Rana S. Jawad
Noor Thair Tahir


Acromegaly, IGFBP-3 gene, rs543019827C/T, rs547640100C/T, rs545558970A/G, rs2453837 C/T, and rs6953668 A/G


Objective: This study aimed Study the genetic polymorphism of the IGFBP-3 gene that is responsible for the synthesis of IGFBP3 protein and its association with acromegaly patients.
Methods: This study was done at the National Diabetes center/Mustansiriyah University between October 2021 and the end of April 2022. Nighty participate in this study (50) acromegaly diabetic patients and (40) healthy control compared patients. In this study, Genomic DNA was extracted then genotyping was performed to detect the single nucleotide polymorphisms (SNPs) in the IGFBP-3 gene using a specific primer.
Results: This is the first study to give frequency distribution genotypes of the IGFBP-3 gene in patients with active acromegaly in Iraq, The IGFBP-3 gene promoter selected region consists of 440 bp, which is highly suspected as a transcription factor binding site (TFBS), and was subjected to DNA sequencing to detect SNPs (point mutations) that might affect to cause disease. These sequences were scanned in 20 individuals, 15 of whom were acromegaly patients and 5 of whom were controls, only five SNPs in the IGFBP-3 gene were selected (rs543019827C/T, rs547640100C/T, rs545558970A/G, rs2453837 C/T, and rs6953668 A/G). The sequence data of 20 samples demonstrated that (rs543019827 C/T, rs545558970 A/G, and rs6953668 A/G) SNPs in the IGFBP-3 gene showed significantly different frequencies of heterozygous genotype (P-value <0.05).
Conclusion: In (rs543019827 C/T) SNP the odds ratio for the CT genotype was 16, in (rs545558970 A/G) SNP the odds ratio for the AG genotype was 4.13, and in (rs6953668 A/G) SNP the odds ratio for the AG genotype was 1.83, this means that person who caring these genotypes have a higher risk for disease than other genotypes.

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