Variation near MTNR1A associates with early development and interacts with seasons

Sonja M Sulkava, Antti-Mathias Taka, Katri Kantojärvi, Pirjo Pölkki, Isabel Morales-Munoz, Lili Milani, Tarja Porkka-Heiskanen, Outi Saarenpää-Heikkilä, Anneli Kylliäinen, E. Juulia Paavonen, Tiina Paunio

Research output: Contribution to journalArticleScientificpeer-review


Melatonin is a circadian regulatory hormone with neuroprotective properties. We have previously demonstrated the association of the genetic variant rs12506228 near the melatonin receptor 1A gene (MTNR1A) with intolerance to shift‐work. Furthermore, this variant has been connected to Alzheimer's disease. Because of the previously suggested role of melatonin signalling in foetal neurocognitive and sleep development, we studied here the association of rs12506228 with early development. The study sample comprised 8‐month‐old infants from the Finnish CHILD‐SLEEP birth cohort (n = 1,301). Parental questionnaires assessed socioemotional, communication and motor development, as well as sleep length and night awakenings. The A allele of rs12506228 showed an association with slower socioemotional (p = .025) and communication (p = .0098) development, but no direct association with sleep. However, the association of the Finnish seasons with infant sleep length interacted with rs12506228. Taken together, rs12506228 near MTNR1A, which has been previously linked to adult and elderly traits, is shown here to associate with slower early cognitive development. In addition, these results suggest that the darker seasons associate with longer infant sleep time, but only in the absence of the rs12506228 AA genotype. Because the risk allele has been connected to fewer brain MT1 melatonin receptors, these associations may reflect the influence of decreased melatonin signalling in early development.
Original languageEnglish
Article number12925
JournalJournal of Sleep Research
Issue number6
Number of pages9
Publication statusPublished - Dec 2020
MoE publication typeA1 Journal article-refereed

Fields of Science

  • 3123 Gynaecology and paediatrics
  • cognitive development
  • genetics
  • infants
  • MTNR1A
  • seasonal variation
  • sleep
  • 1ST YEAR
  • RISK

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