Gene polymorphisms (rs324957, rs324981) in NPSR1 are associated with increased risk of primary insomnia: A cross-sectional study.

Neuropeptide S and neuropeptide S receptor (NPSR1) are associated with sleep regulation. Herein, the possible contribution of 6 polymorphisms in NPSR1 on the chromosome to primary insomnia (PI) and objective sleep phenotypes was investigated. The study included 157 patients with PI and 133 age- and sex-matched controls. All subjects were investigated by polysomnography for 3 consecutive nights. The genotyping of 6 polymorphisms was carried out by polymerase chain reaction-restriction fragment length polymorphism method. A significant difference was detected for rs324957 and rs324981 between PI and controls. The PI patients had a higher frequency of AA than controls in rs324957 (P = .02) and rs324981 (P = .04). However, for other single nucleotide polymorphisms (rs323922, rs324377, rs324396, and rs324987), no significant differences were observed between PI patients and controls. There were 2 different allelic combinations that were associated with PI susceptibility (CATGTC, GCCAAT) and its risk factor. A significant difference in sleep latency was observed among 3 genotype carriers of NPSR1 gene polymorphism rs324957 in PI group (P = .04), with carriers of the A/A genotype having the longest sleep latency (mean +/- SD: 114.80 +/- 58.27), followed by the A/G genotype (112.77 +/- 46.54) and the G/G genotype (92.12 +/- 42.72). This study provided the evidence that the NPSR1 gene polymorphisms (rs324957, rs324981) might be susceptibility loci for PI. Further studies are needed to explore the role of NPSR1 gene polymorphisms in molecular mechanisms of PI in a larger sample size.