Related Experiment Video
Updated: Apr 5, 2026
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
35.0K
Selection in the dopamine receptor 2 gene: a candidate SNP study.
Tobias Göllner1, Martin Fieder1
1Department of Anthropology, University of Vienna , Vienna , Austria.
Peerj
|August 21, 2015
Summary
This study investigated the dopamine receptor 2 gene (DRD2) for signs of natural selection. Researchers identified candidate single nucleotide polymorphisms (SNPs) under balancing selection, suggesting evolutionary adaptation.
Area of Science:
- Human Genetics
- Evolutionary Biology
- Neuroscience
Background:
- Dopamine is a key neurotransmitter implicated in brain function and diseases like schizophrenia.
- Schizophrenia treatment involves blocking dopamine receptors, specifically type 2.
- The dopamine receptor 2 gene (DRD2) is a potential target for evolutionary selection studies.
Purpose of the Study:
- To investigate whether the dopamine receptor 2 gene (DRD2) has undergone natural selection.
- To identify specific genetic variants within DRD2 that may be under selection pressure.
Main Methods:
- Utilized genotype data from the 1,000 Genomes project (Phase I) comprising 1,093 individuals across 14 populations.
- Analyzed single nucleotide polymorphisms (SNPs) within DRD2 using two distinct methods: an outlier approach and a Bayesian approach.
- Included SNPs with minor allele frequencies (MAFs) > 0.05 and > 0.01, totaling 151 and 246 SNPs, respectively.
Main Results:
- Identified nine candidate SNPs under balancing selection for MAF > 0.05 and two for MAF > 0.01.
- Observed weak indications of directional selection, deemed insufficient for definitive conclusions.
- Located all candidate SNPs within intronic regions; one (rs12574471) previously noted in literature.
- Pinpointed rs80215768 in a promoter-flanking region and rs74751335 within a transcription factor binding site.
Conclusions:
- The dopamine receptor 2 gene (DRD2) shows evidence of balancing selection.
- Specific SNPs within DRD2, particularly rs80215768 and rs74751335, warrant further investigation for their functional roles.
- Future research is encouraged to explore the implications of these selected DRD2 variants.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
19.9K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
19.9K
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
68
Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
68
01:16Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
126
The pharmacogenetics of drug transporters is increasingly recognized as a critical factor influencing interindividual variability in drug absorption, distribution, and elimination. These membrane-bound proteins regulate drugs' movement across cellular barriers by actively pumping them out (efflux) or facilitating their uptake (influx). Among the major transporter families, ATP-binding cassette (ABC) and solute carrier (SLC) transporters play particularly prominent roles. Genetic polymorphisms...
126
01:43Incomplete Dominance
32.6K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
32.6K
01:28Human Genetics
1.9K
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
1.9K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
98
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
98