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Published on: August 3, 2021
Significance of 3'UTR and Pathogenic Haplotype in Glucose-6-Phosphate Deficiency
Mallika Chaowanathikhom1, Pornlada Nuchnoi2, Duangdao Palasuwan3
1Department of Clinical Microscopy, Faculty of Allied Health Sciences, Chulalongkorn University, Bangkok, Thailand.
Objective:
To determine the polymorphisms in the 3' untranslated region (3'UTR) of the G6PD gene and analyze the specific SNPs or haplotypes that may affect messenger RNA (mRNA) secondary structure by in silico analysis.
Methods:
We studied the 3'UTR polymorphisms in 107 healthy subjects living in Thailand (ethnicities unknown). The haplotype was analyzed using Haploview software. mRNA secondary structure and microRNA binding of the G6PD gene were predicted by use of the CLC Main Workbench 6.9 and RegRNA 2.0 programs.
Results:
The results revealed 1 new variant in the 3'UTR of the G6PD gene (c.*99A > G). Haplotype ATCG showed significance by association-test results that yielded a high odds ratio (OR, 7.90; 95% confidence interval [CI], 3.15-19.81). Moreover, this haplotype affected G6PD mRNA secondary structure changes and microRNA binding via in silico analysis.
Conclusions:
These results suggest that the haplotype ATCG is associated with reduction of G6PD enzyme expression, G6PD mRNA secondary structure changes, and microRNA binding via in silico analysis.
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