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Rare STAT3 haplotypes cause a predisposition to developing congenital anomalies of the kidney and urinary tract
Mert Polat1, Feride İffet Şahin1, Esra Baskin2
1Department of Medical Genetics, Faculty of Medicine, Başkent University, Ankara, Turkiye.
Background/Aim:
Congenital anomalies of the kidney and urinary tract (CAKUT) are characterized by renal developmental disorders in the embryonic period. STAT3 is a member of the STAT protein family. The members of this protein family play roles in various cellular mechanisms, such as the early stages of embryonic development, kidney development, and renal diseases. This study aims to determine the frequency of STAT3 rs1053004, rs744166, rs3816769, and rs4796793 polymorphisms in individuals with CAKUT.
Materials And Methods:
Two of four polymorphisms, rs744166 (c.-1-13666T>C, NM_001369512.1) and rs4796793 ( c.-1915C>G, NM_001369512.1), were analyzed by a polymerase chain reaction (PCR) and the restriction fragment length polymorphism method. Two other polymorphisms, rs1053004 (c.*1671C>T, NM_001369512.1) and rs3816769 (c.273+314A>G, NM_001369512.1), were analyzed using real-time PCR-melting curve analysis.
Results:
Our research indicates that individuals with the TT allele for rs1053004 single nucleotide polymorphism have a 1.23 times greater disease risk than those with the CC allele. Those with the CC allele for rs3816769 have a 1.41 times greater risk of disease than those with the TT allele. These findings suggest a potential genetic predisposition to CAKUT. Furthermore, the research identified significant connections between rare haplotypes and CAKUT (p = 0.041). The CCTC haplotype for rs744166, rs4796793, rs1053004, and rs3816769 polymorphism was exclusively present in the CAKUT group, while the CGTT haplotype for the same polymorphisms was only detected in the control group.
Conclusion:
The presence of rare haplotypes for the rs1053004, rs3816769, rs4796793, and rs744166 polymorphisms may significantly affect the onset or prevention of CAKUT. These findings could potentially have important clinical implications, providing a deeper understanding of the genetic basis of CAKUT and potentially influencing future diagnostic and treatment strategies.
Insights
Specific STAT3 gene polymorphisms (rs1053004 and rs3816769) are linked to an increased risk of congenital anomalies of the kidney and urinary tract (CAKUT). Rare haplotypes in these STAT3 polymorphisms may influence CAKUT development.
Area of Science:
- Genetics
- Developmental Biology
- Nephrology
Background:
- Congenital anomalies of the kidney and urinary tract (CAKUT) arise from embryonic renal developmental disruptions.
- Signal transducer and activator of transcription 3 (STAT3) plays a crucial role in embryonic development, kidney formation, and renal disease pathogenesis.
Purpose of the Study:
- To investigate the frequency of specific STAT3 gene polymorphisms (rs1053004, rs744166, rs3816769, rs4796793) in individuals diagnosed with CAKUT.
- To explore the potential association between these STAT3 polymorphisms and the genetic predisposition to CAKUT.
Main Methods:
- Genotyping of four STAT3 single nucleotide polymorphisms (SNPs): rs1053004, rs744166, rs3816769, and rs4796793.
- Utilized polymerase chain reaction (PCR) with restriction fragment length polymorphism (RFLP) and real-time PCR with melting curve analysis for SNP detection.
Main Results:
- The TT allele of rs1053004 was associated with a 1.23-fold increased risk of CAKUT compared to the CC allele.
- The CC allele of rs3816769 showed a 1.41-fold higher risk of CAKUT compared to the TT allele.
- Significant associations were found between rare STAT3 haplotypes and CAKUT, with specific haplotypes exclusively present in either the CAKUT or control groups (p=0.041).
Conclusions:
- Rare haplotypes of STAT3 polymorphisms rs1053004, rs3816769, rs4796793, and rs744166 may significantly impact CAKUT onset or prevention.
- These findings suggest a genetic basis for CAKUT and could inform future diagnostic and therapeutic strategies.
- Understanding the role of STAT3 gene variations in CAKUT offers insights into the condition's underlying mechanisms.
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