Common Variations in 4p Locus are Related to Male Completed Suicide
Common Variations in 4p Locus are Related to Male Completed Suicide
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DOI：
10.1007/s12017-008-8056-8
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发表时间：
2009-03-01
影响因子：
3.5
通讯作者：
Vali, Marika
中科院分区：
文献类型：
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作者：
Must, Anne;Koks, Sulev;Vali, Marika
自杀行为是一种多因素的现象，具有明显的遗传倾向。为了评估4p区域基因对自杀风险的贡献，我们对288名男性自杀者和327名健康男性志愿者的染色体臂4p 11 -16上49 Mb区域的36个单核苷酸多态性进行了基因分型。EVC基因rs 1383180、TBC 1D 1基因rs6811863、HTT基因rs362272和WFS 1基因rs734312与男性自杀未遂相关。然而，在校正多重比较后，只有EVC多态性仍然显著（10 K排列后P <0.05）。这些基因的功能尚不清楚。WFS 1和HTT与未折叠蛋白反应和内质网应激有关，TBC 1D 1是GT3的激活剂。EVC是一种具有跨膜和亮氨酸拉链结构域的蛋白质，其功能尚未阐明。需要进一步的研究，以揭示这四个多态性在自杀病因学中的作用。
Suicidal behavior is a multifactorial phenomenon, with a significant genetic predisposition. To assess the contribution of genes in the 4p region to suicide risk, we genotyped 36 single nucleotide polymorphisms from a 49Mb region on the chromosome arm 4p11-16 in a total of 288 male suicide victims and 327 healthy male volunteers. The nonsynonymous variants rs1383180 in EVC gene, rs6811863 in TBC1D1 gene, rs362272 in HTT gene, and rs734312 in WFS1 gene were associated to the male completed suicide. However, only EVC polymorphism remained significant after correcting for multiple comparisons (P < .05 after 10 K permutations). The function of these genes is not clear yet. WFS1 and HTT are related to the unfolded protein response and endoplasmic reticulum stress, and TBC1D1 is a GTPase activator. EVC is a protein with transmembrane and leucine zipper domains, its function has not been elucidated yet. Further studies are required in order to reveal the role of these four polymorphisms in the pathoetiology of suicide.