Association of common variants in NOS1AP gene with sudden unexplained nocturnal death syndrome in the southern Chinese Han population

作者：Huang, Lei; Yu, Yangeng; Chen, Yili; Tester, David J; Tang, Shuangbo; Ackerman, Michael J; Yuan, Zichuang; Cheng, Jianding^*

来源：International Journal of Legal Medicine, 2014, 128(6): 933-938.

DOI：10.1007/s00414-014-0973-5

• Common variant
• The NOS1AP gene
• Sudden unexplained nocturnal death syndrome (SUNDS)
• Single nucleotide polymorphisms (SNPs)

Here, we investigate the association of common polymorphisms of the NOS1AP gene with sudden unexplained nocturnal death syndrome (SUNDS) in the southern Chinese Han population. We genetically screened five common NOS1AP polymorphisms (rs10918594, rs12143842, rs16847548, rs12567209, and rs10494366) previously reported to be associated with QT interval variation and sudden cardiac death (SCD) in 123 sporadic SUNDS cases and 166 healthy controls using polymerase chain reaction (PCR) and direct DNA sequencing. In the present study, the A allele of rs12567209 was more common in controls than in SUNDS cases, which was associated with 0.656-fold decreased risk of SUNDS (95 % confidence interval 0.431 to 0.998, P = 0.048) compared with G allele. Under the dominant genetic model, GA + AA genotype of rs12567209 was also more common in controls than in SUNDS cases, which was associated with 0.604-fold decreased risk of SUNDS (95 % confidence interval 0.368 to 0.991, P = 0.045) compared with GG genotype. No significant associations of rs10918594, rs12143842, rs16847548, and rs10494366 with SUNDS were observed (P > 0.05). In haplotype analyses, the distribution of haplotype GCTA was significantly overrepresented in controls compared to SUNDS cases (P = 0.040). This is the first report of the association of common NOS1AP polymorphisms with SUNDS in the southern Chinese Han population. These findings suggest that the A allele of rs12567209 and haplotype GCTA may serve as a protective modifier.

• 出版日期2014-11
• 单位司法部司法鉴定科学技术研究所; 中山大学