Research Article
AXIN1 Gene Polymorphism in Fatal Cardiomyopathy Cases: A Cross-Sectional Autopsy Study in Myanmar
Issue:
Volume 14, Issue 4, December 2026
Pages:
148-153
Received:
13 September 2026
Accepted:
22 September 2026
Published:
9 October 2026
DOI:
10.11648/j.ijgg.20261404.11
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Abstract: Background: Cardiomyopathies are important causes of sudden cardiac death, and genetic variation contributes to their pathogenesis. AXIN1 encodes a scaffold protein that negatively regulates the Wnt/β-catenin pathway, which has essential roles in cardiac development and remodelling. The AXIN1 single-nucleotide polymorphism rs1805105 has been associated with susceptibility to dilated cardiomyopathy in a Chinese Han population, but evidence from medicolegal autopsy populations in Myanmar is lacking. Objective: To determine the distribution of AXIN1 rs1805105 genotypes and examine their association with types of fatal cardiomyopathy. Methods: A hospital-based cross-sectional descriptive study included 50 consecutives, histologically confirmed fatal cardiomyopathy cases received for medicolegal autopsy at Mandalay General Hospital from June 2020 to May 2021. Cardiomyopathy type was determined by gross and histopathological examination. DNA extracted from cardiac blood was genotyped for AXIN1 rs1805105 using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Descriptive statistics and Fisher’s exact test were used. Results: The mean age was 46.04 ± 13.11 years; 40 cases (80%) were male. Dilated cardiomyopathy (DCM) was identified in 38 cases (76%), hypertrophic cardiomyopathy (HCM) in 11 (22%), and restrictive cardiomyopathy (RCM) in one (2%). Genotype frequencies were CT in 25 cases (50%), TT in 16 (32%), and CC in nine (18%). Among DCM cases, CT was most frequent (21/38, 55.3%), followed by TT (10/38, 26.3%) and CC (7/38, 18.4%). Genotype distribution differed descriptively across cardiomyopathy types but was not statistically significant (Fisher’s exact p = 0.124). Genotype distribution was also not associated with sex (p = 0.809). Conclusion: AXIN1 rs1805105 variation was present in fatal cardiomyopathy cases, with the CT genotype predominating overall and in DCM. However, this small descriptive autopsy series did not demonstrate a statistically significant association between rs1805105 genotype and cardiomyopathy type. Larger case-control and multicentre studies evaluating additional variants are required.
Abstract: Background: Cardiomyopathies are important causes of sudden cardiac death, and genetic variation contributes to their pathogenesis. AXIN1 encodes a scaffold protein that negatively regulates the Wnt/β-catenin pathway, which has essential roles in cardiac development and remodelling. The AXIN1 single-nucleotide polymorphism rs1805105 has been associ...
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,
Ye Phyo Aung
