A missense variant (P10L) of the melanopsin (OPN4) gene in seasonal affective disorder.
A missense variant (P10L) of the melanopsin (OPN4) gene in seasonal affective disorder.
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DOI：
10.1016/j.jad.2008.08.005
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发表时间：
2009-04
影响因子：
6.6
通讯作者：
Provencio, Ignacio
中科院分区：
文献类型：
--
作者：
Roecklein, Kathryn A.;Rohan, Kelly J.;Duncan, Wallace C.;Rollag, Mark D.;Rosenthal, Norman E.;Lipsky, Robert H.;Provencio, Ignacio
黑视素，一种非视觉色素，可能在季节性情感障碍（SAD）对冬季低光照水平的异常反应中发挥作用。我们假设，黑视素基因（Opn 4）的功能序列变异可能有助于增加SAD患者冬季正常功能所需的光照。SAD参与者（n = 130）中Opn 4的等位基因、基因型和单倍型之间的关联相对于无精神病理学史的对照组（n = 90）进行。与C/C和C/T的组合频率相比，SAD参与者的错义变体rs 2675703（P10 L）的纯合次要基因型（T/T）频率高于对照组。具有T/T基因型的个体在SAD组中的可能性是对照组的5.6倍。该研究仅检查了非可见光输入途径的一种分子成分，并且比较组的招募方法不同。这些发现支持了黑视蛋白变体可能使某些个体易患SAD的假设。表征非可见光输入途径缺陷的遗传基础有可能定义SAD对光的病理反应的机制，这可能会改善治疗。
Melanopsin, a non-visual photopigment, may play a role in aberrant responses to low winter light levels in Seasonal Affective Disorder (SAD). We hypothesized that functional sequence variation in the melanopsin gene (Opn4) could contribute to increasing the light needed for normal functioning during winter in SAD. Associations between alleles, genotypes, and haplotypes of Opn4 in SAD participants (n = 130) were performed relative to controls with no history of psychopathology (n = 90). SAD participants had a higher frequency of the homozygous minor genotype (T/T) for the missense variant rs2675703 (P10L) than controls, compared to the combined frequencies of C/C and C/T. Individuals with the T/T genotype were 5.6 times more likely to be in the SAD group than the control group. The study examined only one molecular component of the non-visual light input pathway, and recruitment methods for the comparison groups differed. These findings support the hypothesis that melanopsin variants may predispose some individuals to SAD. Characterizing the genetic basis for deficits in the non-visual light input pathway has the potential to define mechanisms underlying the pathological response to light in SAD, which may improve treatment.
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