Sleep quality, BDNF genotype and gene expression in individuals with chronic abdominal pain

BMC Med Genomics. 2014 Oct 31;7:61. doi: 10.1186/s12920-014-0061-1.


Background: Sleep quality and genetics may contribute to the etiology of gastrointestinal (GI) symptoms. Individuals with impaired sleep often have a number of associated symptoms including chronic abdominal pain (CAP). The current study examined the interactions of brain-derived neurotrophic factor (BDNF) genotype with sleep quality in persons with CAP and healthy controls. In addition, associations among sleep quality, BDNF genotype, and gene expression were explored in the participants.

Methods: Data were collected on 59 participants (46% male, 61% White, 26.9 ± 6.6 years; CAP (n=19) and healthy controls (n=40)). Participants with CAP reported poorer sleep quality compared to healthy controls. BDNF genotype, categorized as Val/Val homozygotes versus the Met carriers.

Results: Microarray analysis found twenty-four differentially expressed genes by a two-fold magnitude in participants with poor sleep quality compared to good sleep quality, and seven differentially expressed genes comparing CAP to healthy control. Three specific genes in the pain group overlap with sleep quality, including insulin-like growth factor 1 (IGF1), spermatogenesis associated serine-rich 2-like (SPATS2L), and immunoglobulin heavy constant gamma 1 or mu (IGHG1/// IGHM). BDNF was shown to have an interaction effect with GI and sleep symptoms.

Conclusions: Participants with CAP reported poor sleep quality compared to healthy controls. The role of the BDNF Met allele on differential gene expression was not distinct as main factor, but impacted interactions with sleep quality and CAP. Down-regulation of IGF1, SPATS2L, and IGHG1 expression may be related to the etiology of poor sleep quality and CAP.

Trial registration: # NCT00824941.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Abdominal Pain / genetics*
  • Abdominal Pain / physiopathology*
  • Adult
  • Biomarkers / metabolism*
  • Brain-Derived Neurotrophic Factor / genetics*
  • Carrier Proteins / genetics
  • Case-Control Studies
  • Chronic Disease
  • Female
  • Gene Expression Profiling*
  • Genotype
  • Humans
  • Insulin-Like Growth Factor I / genetics
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Genetic / genetics*
  • Proteins / genetics
  • RNA, Messenger / genetics
  • Real-Time Polymerase Chain Reaction
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sleep Initiation and Maintenance Disorders / genetics*


  • Biomarkers
  • Brain-Derived Neurotrophic Factor
  • Carrier Proteins
  • IGF1 protein, human
  • Proteins
  • RNA, Messenger
  • SPATS2L protein, human
  • prolactin-binding protein
  • Insulin-Like Growth Factor I
  • BDNF protein, human

Associated data