Dopamine beta-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation

Human Genetics
J F CubellsJ Gelernter

Abstract

Levels of the enzyme dopamine beta-hydroxylase (DbetaH) in the plasma and cerebrospinal fluid (CSF) are closely related biochemical phenotypes. Both are under strong genetic control. Linkage and association studies suggest the structural gene encoding DbetaH (locus name, DBH) is a major locus influencing plasma activity of DbetaH. This study examined relationships of DBH genotype determined at two polymorphic sites (a previously described GT repeat, referred to as the DBH STR and a single-base substitution at the 3' end of DBH exon 2, named DBH*444 g/a), to CSF levels of DbetaH protein in European-American schizophrenic patients, and to plasma DbetaH activity in European-American patients with mood or anxiety disorders. We also investigated linkage disequilibrium (LD) between the polymorphisms in the pooled samples from those European-American subjects (n=104). Alleles of DBH*444 g/a were associated with differences in mean values of CSF DbetaH levels. Alleles at both polymorphisms were associated with plasma DbetaH activity. Significant LD was observed between respective alleles with similar apparent influence on biochemical phenotype. Thus, allele A3 of the DBH STR was in positive LD with DBH*444a, and both alleles were assoc...Continue Reading

Citations

Sep 16, 2005·Psychopharmacology·Brooke N Bourdélat-ParksDavid Weinshenker
Jul 21, 2005·European Archives of Psychiatry and Clinical Neuroscience·Maria Teresa M V FreireClaiton H D Bau
Oct 26, 2006·Behavior Genetics·Colin N HaileTherese A Kosten
Jan 4, 2008·Cellular and Molecular Neurobiology·Nipa Bhaduri, Kanchan Mukhopadhyay
Jun 21, 2011·Cellular and Molecular Neurobiology·Pingyuan GongFuchang Zhang
Oct 12, 2012·Journal of Molecular Neuroscience : MN·Pingyuan GongHua Ma
Apr 26, 2007·European Journal of Human Genetics : EJHG·Yi-lang TangJoseph F Cubells
Nov 5, 2005·Journal of Cognitive Neuroscience·Pamela M GreenwoodRaja Parasuraman
Mar 10, 2004·Behavioral and Cognitive Neuroscience Reviews·P M Greenwood, Raja Parasuraman
Jan 5, 2008·Behavioral and Brain Functions : BBF·Camila GuindaliniGerome Breen
Jan 22, 2014·Pharmacogenomics·Aryeh I HermanMehmet Sofuoglu
Feb 13, 2016·Clinical Neurology and Neurosurgery·Saime SezerOmer Ates
Jan 8, 2008·Biological Psychology·Ciara M GreeneMark A Bellgrove
Jan 11, 2011·Progress in Neuro-psychopharmacology & Biological Psychiatry·Manali DasKanchan Mukhopadhyay
Apr 7, 2016·Cognitive Neuroscience·Pascale VoelkerMichael I Posner
Nov 22, 2007·Journal of the American Academy of Child and Adolescent Psychiatry·Emma S NymanLeena Peltonen
May 23, 2009·The American Journal of Drug and Alcohol Abuse·Colin N HaileTherese A Kosten
Mar 30, 2004·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Marshall B JonesPeter Szatmari
Apr 23, 2003·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Karen Müller SmithBradford A Navia
Oct 19, 2014·Circulation Research·Elizabeth S BarrieWolfgang Sadee
Sep 10, 2005·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Yilang TangJoseph F Cubells

❮ 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.