Genetic and Metabolic Characterization of Insomnia

نویسندگان

  • Hyo-Jeong Ban
  • Sang Cheol Kim
  • Jungmin Seo
  • Ho-Bum Kang
  • Jung Kyoon Choi
چکیده

Insomnia is reported to chronically affect 10∼15% of the adult population. However, very little is known about the genetics and metabolism of insomnia. Here we surveyed 10,038 Korean subjects whose genotypes have been previously profiled on a genome-wide scale. About 16.5% reported insomnia and displayed distinct metabolic changes reflecting an increase in insulin secretion, a higher risk of diabetes, and disrupted calcium signaling. Insomnia-associated genotypic differences were highly concentrated within genes involved in neural function. The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively. Putative enhancers, as indicated by the histone mark H3K4me1, were discovered within both genes near the significant SNPs. In neuronal cells, the enhancers were bound by PAX6, a neural transcription factor that is essential for central nervous system development. Open chromatin signatures were found on the enhancers in human pancreas, a tissue where PAX6 is known to play a role in insulin secretion. In PLCB1, CTCF was found to bind downstream of the enhancer and interact with PAX6, suggesting that it can probably inhibit gene activation by PAX6. PLCB4, a circadian gene that is closely located downstream of PLCB1, was identified as a candidate target gene. Hence, dysregulation of ROR1, PLCB1, or PLCB4 by PAX6 and CTCF may be one mechanism that links neural and pancreatic dysfunction not only in insomnia but also in the relevant psychiatric disorders that are accompanied with circadian rhythm disruption and metabolic syndrome.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

High Dose Vitamin D Supplementation and Improvement in Cognitive Abilities, Insomnia and Day-Time Sleepiness in Adolescent Girls

Objective: Vitamin D may affect the modulation of signaling pathways in the central nervous system. We aimed to evaluate the effect of high-dose vitamin D supplementation on neuropsychological functions in female adolescents. Methods: We studied the effects of 9 weeks of vitamin D supplementation (50000 IU vitamin D3 [cholecalciferol]/week) on cognitive abilities and sleep disorders in 940 ado...

متن کامل

بررسی علل ژنتیکی ناتوانی ذهنی (آتوزومی و وابسته به ایکس) در شهرستان اهواز

Objective: Intellectual Disability (ID) characterize by significant limitations both in intellectual functioning and in adaptative behavior, originates before the age of 18. Over 70% of severe to profound intellectual disabilities (ID) caused by genetic factors. The aim of this study was to investigate genetic causes of ID in fourty Ahvazi families and provide information for genetic counseling...

متن کامل

ISSR Markers for Assessing DNA Polymorphism and Genetic Characterization of Cattle, Goat and Sheep Populations

Based on the purpose of conservation planning for native species, sixteen populations of cattle, goat andsheep were analyzed by amplification of genomic DNA using inter-simple sequence repeat (ISSR) markers toestimate of genetic structure. DNA samples of 275 animals were collected to Paccess their genetic content.The polymorphism information content (PIC) values and genetic di...

متن کامل

Characterization of an Interesting Novel Mutant Strain of Commercial Saccharomyces cerevisiae

The yeast strains that are resistant to high concentration of ethanol have biotechnological benefits and aresuitable models for physiology and molecular genetics research fields. A novel ethanol-tolerant mutant strain,mut1, derived from the commercial Saccharomyces cerevisiae showed higher ethanol production, and alsodemonstrated resistance to ethanol but not to other alcohols...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره 6  شماره 

صفحات  -

تاریخ انتشار 2011