Table 1.
Circadian gene variants investigated in sleep related traits and disorders.
| Gene | Polymorphism | Authors | Diurnal preference | DSPS | FASP |
|---|---|---|---|---|---|
| Clock | 3111C/T (3′UTR) | (66) | 3111C→E | ||
| (67) | + | ||||
| (68) | + | ||||
| (69) | − | − | |||
| (70) | − | ||||
| Per3 | Length repeat | (33) | (L →M; S →E) | + | |
| Haplotype composed of SNPs 5 | (40) | + | |||
| Timeless | * A2634G: Q831R | (71) | − | ||
| CKIepsilon binding region of hPer2 | * S662G | (22) | + | ||
| Per2 | C111G (5′UTR) (rs2304672) |
(72) | 111G → M | + | |
| Per1 | T2434C (exonic) | (73) | + | ||
| A2548G (exonic) | (74) | − | |||
| CKIepsilon | * S408N | (41) | Protective | ||
| Per3 | Exonic VNTR | (75) | + | ||
| Clock, Per2, Per3 & NPAS2 |
* NPAS2: L471 S * Period3: V647G |
(76) | + |
DSPS: Delayed Sleep Phase Syndrome; FASP: Familial Advanced Sleep-Phase; UTR: Untranslated Region. +: Nominally significant association detected; −: Association not detected; 3111C→E: Allele 3111C→ Preference for Eveningness; L→M: Longer allele→ Morningness; S→E: Shorter allele→ Eveningness; 111 G → M: Allele 111G→preference for Morningness.
*
causes amnio acid change