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Normal Function
The DRD5 gene provides instructions for making a protein called dopamine receptor D5, which is found in the brain. This protein works together with a chemical messenger (neurotransmitter) called dopamine. Dopamine fits into the D5 receptor like a key in a lock, which triggers chemical reactions within nerve cells. Dopamine performs many important roles in the brain, including regulating attention, mood, memory, learning, and movement.
Health Conditions Related to Genetic Changes
Benign essential blepharospasm
Several studies have examined a possible relationship between a common variation (polymorphism) in the DRD5 gene and benign essential blepharospasm. The results of these studies have been mixed. Some research has suggested that the polymorphism, a short segment of DNA known as allele 2 that repeats multiple times within the gene, occurs more often in people with benign essential blepharospasm than in people without the disorder.
However, other studies have found no connection between this polymorphism and benign essential blepharospasm. Researchers are still working to clarify whether variants in the DRD5 gene are associated with this disorder.
Other disorders
Other polymorphisms in the DRD5 gene appear to be associated with a common behavioral condition called attention-deficit/hyperactivity disorder (ADHD). This condition, which typically begins in childhood, is characterized by overactivity, impulsive behavior, and difficulty paying attention.
Most studies of the DRD5 gene and ADHD have focused on a polymorphism located near the beginning of the gene. The region consists of two DNA building blocks (base pairs) that are repeated multiple times in a row. The size of this segment ranges from 134 to 156 base pairs. Multiple studies have suggested that a particular polymorphism, which is 148-base pairs long, is associated with a moderately increased risk of ADHD. However, it is unclear how this polymorphism affects the risk of the disorder.
Polymorphisms in the DRD5 gene are among the many factors that are being studied to help explain the causes of ADHD. A large number of genetic and environmental factors, most of which remain unknown, likely determine a person's risk of developing this complex condition.
Other Names for This Gene
- D1beta dopamine receptor
- DBDR
- dopamine D5 receptor
- dopamine receptor D1B
- DRD1B
- DRD1L2
- DRD5_HUMAN
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Clarimon J, Brancati F, Peckham E, Valente EM, Dallapiccola B, Abruzzese G, Girlanda P, Defazio G, Berardelli A, Hallett M, Singleton AB. Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. Mov Disord. 2007 Jan 15;22(2):162-6. doi: 10.1002/mds.21182. Citation on PubMed
- Gizer IR, Ficks C, Waldman ID. Candidate gene studies of ADHD: a meta-analytic review. Hum Genet. 2009 Jul;126(1):51-90. doi: 10.1007/s00439-009-0694-x. Epub 2009 Jun 9. Citation on PubMed
- Li D, Sham PC, Owen MJ, He L. Meta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD). Hum Mol Genet. 2006 Jul 15;15(14):2276-84. doi: 10.1093/hmg/ddl152. Epub 2006 Jun 14. Citation on PubMed
- Lowe N, Kirley A, Hawi Z, Sham P, Wickham H, Kratochvil CJ, Smith SD, Lee SY, Levy F, Kent L, Middle F, Rohde LA, Roman T, Tahir E, Yazgan Y, Asherson P, Mill J, Thapar A, Payton A, Todd RD, Stephens T, Ebstein RP, Manor I, Barr CL, Wigg KG, Sinke RJ, Buitelaar JK, Smalley SL, Nelson SF, Biederman J, Faraone SV, Gill M. Joint analysis of the DRD5 marker concludes association with attention-deficit/hyperactivity disorder confined to the predominantly inattentive and combined subtypes. Am J Hum Genet. 2004 Feb;74(2):348-56. doi: 10.1086/381561. Epub 2004 Jan 19. Citation on PubMed or Free article on PubMed Central
- Mill J, Curran S, Richards S, Taylor E, Asherson P. Polymorphisms in the dopamine D5 receptor (DRD5) gene and ADHD. Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):38-42. doi: 10.1002/ajmg.b.20127. Citation on PubMed
- Misbahuddin A, Placzek MR, Chaudhuri KR, Wood NW, Bhatia KP, Warner TT. A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. Neurology. 2002 Jan 8;58(1):124-6. doi: 10.1212/wnl.58.1.124. Citation on PubMed
- Misbahuddin A, Placzek MR, Warner TT. Focal dystonia is associated with a polymorphism of the dopamine D5 receptor gene. Adv Neurol. 2004;94:143-6. No abstract available. Citation on PubMed
- Sibbing D, Asmus F, Konig IR, Tezenas du Montcel S, Vidailhet M, Sangla S, Oertel WH, Brice A, Ziegler A, Gasser T, Bandmann O. Candidate gene studies in focal dystonia. Neurology. 2003 Oct 28;61(8):1097-101. doi: 10.1212/01.wnl.0000090560.20641.ab. Citation on PubMed
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