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Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder
Author(s) -
Washizuka Shinsuke,
Kakiuchi Chihiro,
Mori Kanako,
Kunugi Hiroshi,
Tajima Osamu,
Akiyama Tsuyoshi,
Nanko Shinichiro,
Kato Tadafumi
Publication year - 2003
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.20041
Subject(s) - bipolar disorder , biology , gene , single nucleotide polymorphism , haplotype , locus (genetics) , genetics , microbiology and biotechnology , genotype , endocrinology , lithium (medication)
Linkage of bipolar disorder with 18p11 has been replicated by several investigators. A nuclear‐encoded mitochondrial complex I subunit gene, NDUFV2 , is one of the candidate genes in this locus, since the possible pathophysiological significance of mitochondrial dysfunction in bipolar disorder has been suggested. The objective of our study was to clarify the association between the NDUFV2 gene and bipolar disorder. We performed the real‐time quantitative reverse transcription polymerase chain reaction (RT‐PCR) for NDUFV2 mRNA expression in lymphoblastoid cell lines derived from patients with bipolar disorder and healthy controls. We also screened novel polymorphisms using denaturing high performance liquid chromatography (D‐HPLC) and PCR‐direct sequencing method. Detected five single nucleotide polymorphisms (SNPs) were genotyped. A decrease of the expression level of NDUFV2 gene was found in patients with bipolar I disorder compared with controls ( P = 0.006). We also found that the haplotype frequencies of the four polymorphisms in the upstream region of NDUFV2 were significantly different between bipolar disorders and controls ( P = 0.0001). Our findings suggest that polymorphisms of the NDUFV2 gene may be one of the genetic risk factors for bipolar disorder. © 2003 Wiley‐Liss, Inc.