Abstract
Photic sneeze reflex (PSR) is an interesting but yet mysterious phenotype featured by individuals’ response of sneezing in exposure to bright light. To uncover the underlying genetic markers (single nucleotide polymorphisms, SNPs), a genome-wide association study (GWAS) was conducted exclusively in a Chinese population of 3417 individuals (PSR prevalence at 25.6%), and reproducibly identified both a replicative rs10427255 on 2q22.3 and a novel locus of rs1032507 on 3p12.1 in various effect models (additive, as well as dominant and recessive). Minor alleles respectively contributed to increased or reduced risk for PSR with odds ratio (95% confidence interval) at 1.68 ([1.50, 1.88]) for rs10427255 and 0.65 ([0.58, 0.72]) for rs1032507. The two independent SNPs were intergenic, and collectively enhanced PSR classification by lifting the area-under-curve value in ROC curve to 0.657. Together with previous GWAS in other populations, the result substantiated the polygenic and non-ethnicity-specific nature behind the PSR phenotype.
Highlights
In comparison to Mendelian phenotypes that are exclusively explained by genetic variation at a single defined locus, complex phenotypes are caused by a collective effect of many genetic variants throughout the genome[1], requiring “omics” studies to fine map the associated and even better the causal loci[2]
No large-size genome-wide association study (GWAS) on Photic sneeze reflex (PSR) has ever been conducted or published for the Chinese population, and we aim to investigate this issue to better reveal the genetics associated with this interesting phenotype
In our GWAS with a large sample of the Chinese population, two hit SNPs of rs10427255 and rs1032507 were associated with the PSR in genome-wide significance
Summary
In comparison to Mendelian phenotypes that are exclusively explained by genetic variation at a single defined locus (generally in the coding region of a certain gene), complex phenotypes are caused by a collective effect of many genetic variants throughout the genome[1], requiring “omics” studies to fine map the associated and even better the causal loci[2] A GWAS of PSR on 99695 European-descendant individuals identified 50 strongly associated loci thanks to the enhanced statistical power conferred by its much larger sample size[3] These GWAS differed in aspects such as gene chip used, sample size achieved, analytical methods applied etc. No large-size GWAS on PSR has ever been conducted or published for the Chinese population, and we aim to investigate this issue to better reveal the genetics associated with this interesting phenotype
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