Case-control studies show that a non-conservative amino-acid change from a glutamine to arginine in the P2RX7 purinergic receptor protein is associated with both bipolar- and unipolar-affective disorders

• Published in: Molecular psychiatry Vol. 14; no. 6; pp. 614 - 620
• Main Authors: McQuillin, A, Bass, N J, Choudhury, K, Puri, V, Kosmin, M, Lawrence, J, Curtis, D, Gurling, H M D
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 01.06.2009; Nature Publishing Group
• Subjects: Adult and adolescent clinical studies; Affective disorders; Alleles; Amino Acid Substitution - genetics; Arginine - genetics; Behavioral Sciences; Biological and medical sciences; Biological Psychology; Bipolar disorder; Bipolar Disorder - genetics; Case-Control Studies; Cell receptors; Central nervous system; Chromosome 12; Chromosomes; Chromosomes, Human, Pair 12; Depression; Depressive Disorder - genetics; Dimerization; Disease susceptibility; Emotional disorders; Etiology; Gene Frequency; Gene mapping; Gene mutations; Genes; Genes, Dominant; Genetic aspects; Genetic markers; Genetic Predisposition to Disease; Glutamine; Glutamine - genetics; Haplotypes; Health aspects; Health sciences; Heterozygote; Heterozygotes; Homozygote; Homozygotes; Humans; Linkage Disequilibrium; Medical sciences; Medicine; Medicine & Public Health; Mental depression; Mental health; Microsatellite Repeats; Microsatellites; Mood disorders; Neurosciences; original-article; Pharmacotherapy; Physiological aspects; Polymorphism; Protein interaction; Proteins; Psychiatry; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Receptors, Purinergic P2 - genetics; Receptors, Purinergic P2X7; Risk factors; Single-nucleotide polymorphism; University colleges; United Kingdom; United Kingdom > UK; replication; association; mood disorder; haplotype; depression; Mood disorder; Depression; Case control study; Genetic determinism; Protein; Affective disorder; Arginine; Purinergic receptor; Aminoacid; Genetics; Haplotype; Glutamine

Three linkage studies of bipolar disorder have implicated chromosome 12q24.3 with lod scores of over 3.0 and several other linkage studies have found lods between 2 and 3. Fine mapping within the original chromosomal linkage regions has identified several loci that show association with bipolar diso...