The T Allele of MTHFR c.C677T and Its Synergism with G (Val 158) Allele of COMT c.G472A Polymorphism Are Associated with the Risk of Bipolar I Disorder

• Published in: Genetic testing and molecular biomarkers Vol. 20; no. 9; p. 510
• Main Authors: Rahimi, Ziba, Kakabaraee, Keivan, Garavand, Amin, Rahimi, Zohreh
• Format: Journal Article
• Language: English
• Published: United States 01.09.2016
• Subjects: Adult; Alleles; Bipolar Disorder - enzymology; Bipolar Disorder - genetics; Case-Control Studies; Catechol O-Methyltransferase - genetics; Catechol O-Methyltransferase - metabolism; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Iran; Male; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Methylenetetrahydrofolate Reductase (NADPH2) - metabolism; Middle Aged; Polymorphism, Single Nucleotide; Risk Factors
• ISSN: 1945-0257
• DOI: 10.1089/gtmb.2016.0061

The aims of the present study were to investigate the association between methylenetetrahydrofolate reductase (MTHFR) c.C677T (p.A222V) and catechol-O-methyltransferase (COMT) c.G472A (p.V158M) polymorphisms and their synergism with respect to bipolar I disorder (BID). Within an ethnic Kurdish population from Western Iran the MTHFR c.C677T and COMT c.G472A polymorphisms were studied in 150 patients with BID and 149 gender- and age-matched healthy individuals using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. In the presence of MTHFR 677T allele and MTHFR TT genotype, the risk of BID was 1.44 times (p = 0.046) and 1.81-fold (p = 0.029), respectively. The frequency of COMT 472G allele compared to the A allele in cases and controls was not significant (p = 0.078); however there was a synergism between the presence of MTHFR 677T and COMT 472G alleles that increased the risk of BID by 2.58-fold (p = 0.003). Our findings indicate that the presence of the lower activity allele of MTHFR (677T) increased the risk of BID. In addition, the concomitant presence of the MTHFR 677T allele with the COMT 472G allele was associated with increased susceptibility to BID in our population.