The ABC transporter family in psychiatric diseases

在本研究中，我们重点研究了ABC转运蛋白家族，它们可能参与了精神分裂症和严重抑郁障碍(MDD)的发病机制。首先，我们报告了ABCA1的rs2230808(R1587K)与男性精神分裂症之间的显著关联。在ABCB1编码P-糖蛋白基因的研究中，我们选择了5个功能多态(A-41G[rs2188524]、T-129c[rs3213619]、C1236T[rs1128503]、G2677A/T[rs2032582]和C3435T[rs1045642])。我们发现rs1045642的T3435等位基因在MDD患者中显著高于对照组，且T3435等位基因的纯合子在MDD患者中明显高于对照组。这些结果表明，T3435等位基因或携带该等位基因的两个副本在日本人群中对MDD具有易感性。

In this study, we focused on ABC transporter family, which might be involved in the pathogenesis of schizophrenia and major depressive disorder (MDD). First, we reported a significant association between the rs2230808 (R1587K) of ABCA1 and schizophrenia in men. In the study of ABCB1 encoding the P-glycoprotein gene, we selected the five functional polymorphisms (A-41G [rs2188524], T-129C [rs3213619], C1236T [rs1128503], G2677A/T [rs2032582], and C3435T [rs1045642]). We found that the minor T3435 allele of rs1045642 was significantly increased in MDD patients than in the controls and homozygotes for the T3435 allele was significantly more common in patients than in the controls. These results suggest that the T3435 allele or carrying two copies of this allele confers susceptibility to MDD in the Japanese population.