Sequence Variations of the Human MPDZ Gene and Association With Alcoholism in Subjects With European Ancestry

• Published in: Alcoholism, clinical and experimental research Vol. 33; no. 4; pp. 712 - 721
• Main Authors: Karpyak, Victor M., Kim, Jeong-Hyun, Biernacka, Joanna M., Wieben, Eric D., Mrazek, David A., Black, John L., Choi, Doo-Sup
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.2009; Wiley
• Subjects: Addictive behaviors; Adult; Adult and adolescent clinical studies; Alcohol Withdrawal Seizures - ethnology; Alcohol Withdrawal Seizures - genetics; Alcoholism; Alcoholism - ethnology; Alcoholism - genetics; Alcoholism and acute alcohol poisoning; Animals; Biological and medical sciences; Carrier Proteins - genetics; Disease Models, Animal; Europe; Exons - genetics; Female; Genetic Predisposition to Disease - ethnology; Genetic Predisposition to Disease - genetics; Genetic Variation - genetics; Genomics; Haplotypes - genetics; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Male; Medical sciences; Membrane Proteins; Mice; Mice, Inbred C57BL; Middle Aged; MPDZ; Nervous system (semeiology, syndromes); Neurology; Polymorphism, Single Nucleotide - genetics; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Seizures; Toxicology; Withdrawal; Europe; Human; Nervous system diseases; Poison withdrawal; Withdrawal; Alcoholism; Epilepsy; Genomics; European; Cerebral disorder; Association; Convulsion; Gene; Central nervous system disease; Disintoxication; Genetics; Neurological disorder; Genome; MPDZ; Polymorphism; Seizures

Background:  Mpdz gene variations are known contributors of acute alcohol withdrawal severity and seizures in mice. Methods:  To investigate the relevance of these findings for human alcoholism, we resequenced 46 exons, exon–intron boundaries, and 2 kilobases in the 5′ region of the human MPDZ gene...