Association between the 2-bp deletion polymorphism in the duplicated version of the alpha7 nicotinic receptor gene and P50 sensory gating.

European Journal of Human Genetics : EJHG
Rachel H FlomenE Bramon

Abstract

There is considerable evidence implicating the 15q13.3 region in neuropsychiatric disorders, with the α7 nicotinic receptor gene CHRNA7 the most plausible candidate. This region has multiple duplications and many copy number variants (CNVs). A common CNV involves a partial duplication of CHRNA7 (CHRFAM7A), which occurs in either orientation. We examined the distribution of these alternative genomic arrangements in a large cohort of psychiatric patients, their relatives and controls using the 2-bp deletion polymorphism as a marker for the orientation of CHRFAM7A. We investigated three common alleles for association with psychosis and with the P50 sensory gating deficit, which is strongly associated with psychosis and strongly linked to 15q13.3. We found significant within-family association with P50 (empirical P=0.004), which is robust to population stratification. Most of the effect came from the 2-bp deletion allele, which tags the variant of CHRFAM7A in the same orientation as CHRNA7. This allele is associated with the presence of the P50 sensory gating deficit (empirical P=0.0006). Tests comparing within-family and between-family components of association suggest considerable population stratification in the sample. We found...Continue Reading

References

Apr 1, 1992·The American Journal of Psychiatry·L L JuddD L Braff
Jan 1, 1987·Schizophrenia Bulletin·R FreedmanR Franks
Dec 18, 1995·American Journal of Medical Genetics·M WaldoR Freedman
Aug 1, 1996·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·K E StevensG M Rose
Jan 21, 1997·Proceedings of the National Academy of Sciences of the United States of America·R FreedmanW Byerley
Jul 23, 1998·American Journal of Medical Genetics·C A KaufmannC R Cloninger
Oct 1, 1998·American Journal of Medical Genetics·M Neves-PereiraJ L Kennedy
Dec 8, 1998·The American Journal of Psychiatry·B A ClementzD L Braff
Apr 17, 1999·American Journal of Medical Genetics·L CurtisS E Antonarakis
Jan 13, 2000·American Journal of Human Genetics·G R AbecasisW O Cookson
Jul 14, 2000·American Journal of Medical Genetics·H H StassenC Scharfetter
Jul 26, 2000·European Journal of Human Genetics : EJHG·G R AbecasisL R Cardon
Jan 23, 2002·American Journal of Medical Genetics·P V GejmanJ Zhang
Feb 15, 2003·American Journal of Human Genetics·Adele A MitchellAravinda Chakravarti
Apr 22, 2004·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Vincenzo De LucaJames L Kennedy
Aug 27, 2004·Schizophrenia Research·Elvira BramonSophia Frangou
Jul 11, 2006·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Rachel H FlomenAndrew J Makoff
Jul 11, 2006·Behavior Genetics·Mei Hua HallPak Sham
Jul 18, 2006·Biological Psychiatry·Sherry Leonard, Robert Freedman
Jan 17, 2007·Psychological Medicine·Mei-Hua HallRobin M Murray
May 4, 2007·The American Journal of Psychiatry·Mei-Hua HallPak Sham
Jan 15, 2008·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Mei-Hua HallFrühling Rijsdijk

❮ Previous
Next ❯

Citations

Jul 31, 2013·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Linea MelchiorZeynep Tümer
Jan 4, 2019·Recent Patents on Anti-cancer Drug Discovery·Alessia SantoroPatrizia Russo
Oct 1, 2015·Pharmacological Reviews·Daniel BertrandDiana Donnelly-Roberts
Aug 10, 2018·European Journal of Human Genetics : EJHG·Cinzia CameliMichele Zoli

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.