| Abstract [eng] |
Preterm birth is a multifactorial pregnancy-related condition associated with substantial neonatal morbidity and mortality, with its genetic background remaining incompletely understood. This study aimed to investigate genetic variants potentially associated with preterm birth using genome-wide association approaches. Genotyping data from preterm and term-born neonates were analyzed using candidate variant analysis and logistic regression association analysis using PLINK and SNPTEST, with and without genotype imputation. Quality control, statistical visualization, identification of overlapping variants, and functional annotation analyses were performed. Although several suggestive variants were identified, no statistically robust genome-wide significant associations were consistently replicated across methods. The obtained findings were likely influenced by limited sample size and statistical inflation. Overall, the results should be considered exploratory and highlight the need for larger, well-powered studies to better understand the genetic architecture of preterm birth. |
