ZNF527 GENE rs386809049 ANALYSIS IN POPULATION OF UKRAINE

Area of Science:

• Genetics
• Neuroscience
• Human Molecular Biology

Background:

• Intellectual disability (ID) is a complex condition often linked to genetic factors.
• Several zinc finger (Znf) genes have been implicated in the pathogenesis of ID.
• The specific role of ZNF527 in ID remains to be fully elucidated.

Purpose of the Study:

• To investigate the potential role of a novel ZNF527 gene variant (rs386809049) in intellectual disability.
• To determine the frequency of the rs386809049 polymorphism in the Ukrainian population.

Main Methods:

• Exome analysis was performed on two siblings with intellectual disability.
• The identified ZNF527 c.806_808 deletion-insertion variant (rs386809049) was analyzed.
• Genotyping of rs386809049 was conducted in 300 individuals from the general Ukrainian population.

Main Results:

• A homozygous ZNF527 coding sequence indel (rs386809049) was identified in two siblings with ID.
• The variant results in amino acid substitutions Pro269Leu and Tyr270Cys/Asn in the ZNF527 protein.
• The ZNF527 TGTGCA allele frequency was 16.8% in the Ukrainian population, suggesting it is not the primary cause of ID.

Conclusions:

• The rs386809049 polymorphism in the ZNF527 gene has a high allele frequency in the general Ukrainian population.
• This high frequency suggests that rs386809049 is unlikely to be the major causative factor for intellectual disability.
• Further research is needed to understand the precise role of ZNF527 in neurodevelopmental disorders.