光喷嚏反射综合征的全基因组关联研究在日本人群中。
A genome-wide association study on photic sneeze syndrome in a Japanese population.
机构信息
Department of Mental Disorder Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1, Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan.
Department of Psychiatry, Shinshu University School of Medicine, Matsumoto, Nagano, 390-8621, Japan.
出版信息
J Hum Genet. 2018 Jun;63(6):765-768. doi: 10.1038/s10038-018-0441-z. Epub 2018 Mar 20.
Photic sneeze syndrome (PSS) is characterized by a tendency to sneeze when the eye is exposed to bright light. Recent genome-wide association studies (GWASs) have identified single-nucleotide polymorphisms (SNPs) associated with PSS in Caucasian populations. We performed a GWAS on PSS in Japanese individuals who responded to a web-based survey and provided saliva samples. After quality control, genotype data of 210,086 SNPs in 11,409 individuals were analyzed. The overall prevalence of PSS was 3.2%. Consistent with previous reports, SNPs at 3p12.1 were associated with PSS at genome-wide significance (p < 5.0 × 10). Furthermore, two novel loci at 9q34.2 and 4q35.2 reached suggestive significance (p < 5.0 × 10). Our data also provided evidence supporting the two additional SNPs on 2q22.3 and 9q33.2 reportedly associated with PSS. Our study reproduced previous findings in Caucasian populations and further suggested novel PSS loci in the Japanese population.
光喷嚏综合征（PSS）的特征是眼睛暴露在亮光下时容易打喷嚏。最近的全基因组关联研究（GWAS）已经在白种人群中确定了与 PSS 相关的单核苷酸多态性（SNPs）。我们对日本个体进行了 PSS 的 GWAS，这些个体对基于网络的调查做出了回应并提供了唾液样本。经过质量控制，分析了 11409 名个体的 210086 个 SNP 的基因型数据。PSS 的总体患病率为 3.2%。与先前的报告一致，3p12.1 处的 SNPs 与 PSS 相关，达到全基因组显著水平（p < 5.0×10）。此外，在 9q34.2 和 4q35.2 处有两个新的位点达到了提示性显著水平（p < 5.0×10）。我们的数据还提供了证据支持先前报道的与 PSS 相关的 2q22.3 和 9q33.2 上的另外两个 SNP。我们的研究重现了白种人群中的先前发现，并进一步在日本人群中提示了新的 PSS 位点。
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