ATG7 rs1375206 Genotype as a susceptibility biomarker for preeclampsia in the Chinese Han population.
TL;DR
Results revealed that this genetic variant was associated with susceptibility to preeclampsia (PE) and reduced Atg7 expression in PE placentas and may be associated with PE risk and serve as a potential genetic marker.
Abstract
Preeclampsia (PE) is linked to placental dysplasia and autophagy disorder. Atg7 is vital for placental development, yet its rs1375206 polymorphism with PE risk in Chinese Han population remains unclear. This study enrolled 990 PE patients and 1004 controls to genotype Atg7 rs1375206. Results revealed that this genetic variant was associated with susceptibility to preeclampsia (PE). Under the dominant genetic model (GG versus CG + CC, OR = 0.76, 95% CI 0.63-0.91, P = 0.003), carriers of the GG genotype exhibited lower PE risk compared with individuals carrying at least one C allele. Allelic comparison further verified that the C allele increased disease susceptibility compared with the G allele (OR = 1.33, 95% CI 1.17-1.51, P < 0.001). The recessive model (CC versus CG + GG, OR = 1.64; 95% CI, 1.29-2.07; P < 0.001) additionally confirmed a higher disease risk among CC homozygotes. The codominant comparison (CC vs CG vs GG) showed no significant difference in PE risk between CG heterozygotes and GG homozygotes (P = 0.102), whereas CC homozygotes exhibited substantially elevated risk relative to both CG heterozygotes and GG homozygotes (CC vs CG: OR = 1.52, 95% CI 1.19-1.95, P < 0.001; CC vs GG: OR = 1.79, 95% CI 1.39-2.32, P < 0.001). Stratified analysis showed differences in PE severity and onset subgroups. Bioinformatics and IHC confirmed reduced Atg7 expression in PE placentas. Atg7 rs1375206 may be associated with PE risk and serve as a potential genetic marker.