Institute of Legal Medicine (OE 5500), Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Gynecology Research Unit, Hanover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany.
Int J Legal Med. 2021 Jul;135(4):1499-1506. doi: 10.1007/s00414-020-02480-0. Epub 2021 Feb 8.
Both obstructive sleep apnea (OSA) and (at least a fraction of) sudden infant death syndrome (SIDS) are associated with impaired respiration. For OSA, an association with several gene variants was identified. Therefore, our hypothesis is that these polymorphisms might be of relevance in SIDS as well.
Twenty-four single nucleotide polymorphisms (SNPs) in 21 candidate genes connected to OSA, were genotyped in a total of 282 SIDS cases and 374 controls. Additionally, subgroups based on factors codetermining the SIDS risk (age, sex, season, and prone position) were established and compared as well.
Two of the analyzed SNPs showed nominally significant differences between SIDS and control groups: rs1042714 in ADRB2 (adrenoceptor beta 2) and rs1800541 in EDN1 (endothelin 1). In the subgroup analyses, 10 further SNPs gave significant results. Nevertheless, these associations did not survive adjustment for multiple testing.
Our results suggest that there might be a link between SIDS and OSA and its resulting respiratory and cardiovascular problems, albeit this predisposition might be dependent on the combination with other, hitherto unknown gene variants. These findings may encourage replication studies to get a better understanding of this connection.
阻塞性睡眠呼吸暂停（OSA）和（至少一部分）婴儿猝死综合征（SIDS）都与呼吸功能障碍有关。对于 OSA，已经确定了与几个基因变异有关的关联。因此，我们的假设是这些多态性在 SIDS 中也可能具有相关性。
在总共 282 例 SIDS 病例和 374 例对照中，对与 OSA 相关的 21 个候选基因中的 24 个单核苷酸多态性（SNP）进行了基因分型。此外，还根据确定 SIDS 风险的因素（年龄、性别、季节和俯卧位）建立了亚组并进行了比较。
在 SIDS 和对照组之间，有两个分析的 SNP 显示出名义上的显著差异：ADRB2（肾上腺素能受体β 2）中的 rs1042714 和 EDN1（内皮素 1）中的 rs1800541。在亚组分析中，进一步的 10 个 SNP 给出了显著的结果。然而，这些关联在进行多重检验调整后并未成立。
我们的结果表明，SIDS 与 OSA 及其导致的呼吸和心血管问题之间可能存在联系，尽管这种倾向可能取决于与其他迄今为止未知的基因变异的组合。这些发现可能鼓励复制研究，以更好地了解这种联系。
