Genetic Unit, I,R,C,C,S, San Giovanni di Dio - Fatebenefratelli, Brescia, Italy.
BMC Psychiatry. 2011 Mar 31;11:50. doi: 10.1186/1471-244X-11-50.
A genetic liability for anxiety-related personality traits in healthy subjects has been associated with the functional serotonin transporter promoter polymorphism (5-HTTLPR), although the data are somewhat conflicting. Moreover, only one study has investigated the functional significance of the 5-HTTLPR/rs25531 haplotypes in relation to anxiety traits in healthy subjects. We tested whether the 5-HTTLPR polymorphism and the 5-HTTLPR/rs25531 haplotypes are linked to Harm Avoidance (HA) using an association study (STUDY I) and a meta-analytic approach (STUDY II).
STUDY I: A total of 287 unrelated Italian volunteers were screened for DSM-IV Axis I disorders and genotyped for the 5-HTTLPR and rs25531 (A/G) polymorphisms. Different functional haplotype combinations were also analyzed. STUDY II: A total of 44 studies were chosen for a meta-analysis of the putative association between 5-HTTLPR and anxiety-related personality traits.
STUDY I: In the whole sample of 287 volunteers, we found that the SS genotype and S'S' haplotypes were associated with higher scores on HA. However, because the screening assessed by Mini-International Neuropsychiatric Interview (M.I.N.I.) showed the presence of 55 volunteers affected by depression or anxiety disorders, we analyzed the two groups ("disordered" and "healthy") separately. The data obtained did indeed confirm that in the "healthy" group, the significant effects of the SS genotype and S'S' haplotypes were lost, but they remained in the "disordered" group. STUDY II: The results of the 5-HTTLPR meta-analysis with anxiety-related traits in the whole sample confirmed the association of the SS genotype with higher anxiety-related traits scores in Caucasoids; however, when we analyzed only those studies that used structured psychiatric screening, no association was found.
This study demonstrates the relevance to perform analyses on personality traits only in DSM-IV axis I disorder-free subjects. Furthermore, we did not find an association between functional serotonin transporter gene polymorphisms and anxiety traits in healthy subjects screened through a structured psychiatric interview.
在健康受试者中，与焦虑相关的人格特质的遗传易感性与功能性血清素转运体启动子多态性（5-HTTLPR）有关，尽管数据有些相互矛盾。此外，只有一项研究调查了 5-HTTLPR/rs25531 单倍型与健康受试者焦虑特征的功能意义。我们使用关联研究（研究 I）和荟萃分析方法（研究 II）测试 5-HTTLPR 多态性和 5-HTTLPR/rs25531 单倍型是否与回避（HA）有关。
研究 I：共筛选了 287 名无关联的意大利志愿者，以排除 DSM-IV 轴 I 障碍，并对 5-HTTLPR 和 rs25531（A/G）多态性进行基因分型。还分析了不同的功能性单倍型组合。研究 II：共选择了 44 项研究进行荟萃分析，以确定 5-HTTLPR 与焦虑相关人格特质之间的潜在关联。
研究 I：在 287 名志愿者的全样本中，我们发现 SS 基因型和 S'S'单倍型与 HA 评分较高有关。然而，由于迷你国际神经精神访谈（MINI）的筛查显示有 55 名志愿者患有抑郁症或焦虑障碍，我们分别对两组（“紊乱”和“健康”）进行了分析。获得的数据确实证实，在“健康”组中，SS 基因型和 S'S'单倍型的显著影响消失了，但在“紊乱”组中仍然存在。研究 II：对全样本中与焦虑相关特征的 5-HTTLPR 荟萃分析结果证实，SS 基因型与白种人焦虑相关特征评分较高有关；然而，当我们仅分析那些使用结构化精神科筛查的研究时，没有发现关联。
本研究表明，在 DSM-IV 轴 I 障碍无受试者中仅对人格特征进行分析是相关的。此外，我们没有发现经过结构化精神科访谈筛选的健康受试者中功能性血清素转运体基因多态性与焦虑特征之间存在关联。
