Yunnan Fuwai Cardiovascular Hospital, 528 Shahe Road, 650032, Kunming, Yunnan, China.
The Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, 935 Jiao ling Road, 650118, Kunming, Yunnan, China.
Ital J Pediatr. 2024 Apr 5;50(1):62. doi: 10.1186/s13052-024-01630-z.
Atrial septal defect (ASD) is a common form of congenital heart disease. Although several genes related to ASD have been found, the genetic factors of ASD remain unclear. This study aimed to evaluate the correlation between 10 candidate single nucleotide polymorphisms (SNPs) and sporadic atrial septal defects.
Based on the results of 34 individual whole exome sequences, 10 candidate SNPs were selected. In total, 489 ASD samples and 420 normal samples were collected. The 10 SNPs in the case group and the control group were identified through Snapshot genotyping technology. The χ2-test and unconditional regression model were used to evaluate the relationship between ASD and each candidate SNP. Haploview software was used to perform linkage disequilibrium and haplotype analysis.
The χ2 results showed that the FLT4 rs383985 (P = 0.003, OR = 1.115-1.773), HYDIN rs7198975 (P = 0.04621, OR = 1.003-1.461), and HYDIN rs1774266 (P = 0.04621, OR = 1.003-1.461) alleles were significantly different between the control group and the case group (P < 0.05). Only the association with the FLT4 polymorphism was statistically significant after adjustment for multiple comparisons.
These findings suggest that a possible molecular pathogenesis associated with sporadic ASD is worth exploring in future studies.
房间隔缺损（ASD）是一种常见的先天性心脏病。尽管已经发现了几个与 ASD 相关的基因，但 ASD 的遗传因素仍不清楚。本研究旨在评估 10 个候选单核苷酸多态性（SNP）与散发性房间隔缺损的相关性。
基于 34 个个体外显子组序列的结果，选择了 10 个候选 SNP。共收集了 489 例 ASD 样本和 420 例正常样本。通过Snapshot 基因分型技术鉴定病例组和对照组中的 10 个 SNP。采用χ2检验和非条件回归模型评估 ASD 与每个候选 SNP 的关系。使用 Haploview 软件进行连锁不平衡和单倍型分析。
χ2 结果显示，FLT4 rs383985（P=0.003，OR=1.115-1.773）、HYDIN rs7198975（P=0.04621，OR=1.003-1.461）和 HYDIN rs1774266（P=0.04621，OR=1.003-1.461）等位基因在对照组和病例组之间差异有统计学意义（P<0.05）。只有 FLT4 多态性与 ASD 的关联在进行多重比较调整后具有统计学意义。
这些发现表明，与散发性 ASD 相关的潜在分子发病机制值得进一步研究。
