Gutiérrez B, Fañanás L, Arranz M J, Vallès V, Guillamat R, van Os J, Collier D
Unitat d'Antropologia, Facultat de Biologia, Universitat de Barcelona, Spain.
Neurosci Lett. 1996 Jul 5;212(1):65-7. doi: 10.1016/0304-3940(96)12746-4.
We have examined a structural variant of the 5-HT2C receptor (Cys23Ser) for allelic association with bipolar affective disorder in 88 cases and 113 controls. Overall, there was no significant difference in allele frequencies between the two groups, indicating that the 5-HT2C gene is not a major risk factor for bipolar affective disorder. However, when the subjects were analysed according to sex, there was a small excess of the serine ser23 allele in female cases (P = 0.04) and this effect was also seen if the ser23 allele was considered recessive (P = 0.03). A small increase in significance was found if only female cases with a known family history were included (P = 0.01). These results suggest that the ser23 allele may increase susceptibility to bipolar affective disorder in women.
我们检测了5-羟色胺2C受体的一种结构变体（半胱氨酸23丝氨酸），以研究其等位基因与88例双相情感障碍患者及113名对照者之间的关联。总体而言，两组之间的等位基因频率无显著差异，这表明5-羟色胺2C基因并非双相情感障碍的主要风险因素。然而，当根据性别对受试者进行分析时，女性患者中丝氨酸ser23等位基因略有过量（P = 0.04），并且如果将ser23等位基因视为隐性基因，也会出现这种效应（P = 0.03）。如果仅纳入有已知家族病史的女性患者，则显著性略有增加（P = 0.01）。这些结果表明，ser23等位基因可能会增加女性患双相情感障碍的易感性。
