A case-control
study and meta-analysis on the association of NME1 rs34214448 polymorphism with
breast cancer risk
Ngiam Adlar Ryan, Chong Eric Tzyy Jiann, Chuah Jitt Aun and Lee Ping-Chin
Res. J. Biotech.; Vol. 21(2); 169-177;
doi: https://doi.org/10.25303/212rjbt1690177; (2026)
Abstract
The rs34214448 single nucleotide polymorphism (SNP) in the NME/NM23 nucleoside diphosphate
kinase 1 (NME1) gene has been linked to reduced NME1 expression, thus potentially
elevating cancer risk. However, its impact on the Malaysian population remains underexplored.
Therefore, this study aimed to investigate the association between the NME1 rs34214448
SNP and breast cancer risk in a Malaysian population. Genotyping for this SNP was
performed on 74 breast cancer cases and 158 healthy controls from the Malaysian
population using a polymerase chain reaction-restriction fragment length polymorphism
approach. The odds ratios with 95% confidence intervals were calculated. Additionally,
a meta-analysis was conducted using the comprehensive meta-analysis software. Functional
annotation of the NME1 rs34214448 SNP was performed using RegulomeDB ver.2.2. The
case-control analysis indicated that this SNP did not exhibit a significant association
with the risk of breast cancer development in any of the tested genetic models within
the Malaysian population. The meta-analysis that involved 345 cases and 434 controls
from different populations showed that there is no significant association of this
polymorphism with the risk of breast cancer overall.
In conclusion, neither the case-control study nor the meta-analysis identified a
significant association between this SNP and breast cancer risk. Functional annotation
revealed that this SNP is located in a binding region and is able to alter the regulatory
motif of several proteins linked to breast cancer. This study underscores the importance
of considering population-specific factors in genetic associations and highlights
the need for further research to comprehend the SNP's role in breast cancer susceptibility
across diverse populations. The mechanisms underlying the relationship between this
SNP and proteins associated with breast cancer should be empirically investigated
for effective treatment.
