Ben Zion I Z, Tessler R, Cohen L, Lerer E, Raz Y, Bachner-Melman R, Gritsenko I, Nemanov L, Zohar A H, Belmaker R H, Benjamin J, Ebstein R P
Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
Mol Psychiatry. 2006 Aug;11(8):782-6. doi: 10.1038/sj.mp.4001832. Epub 2006 Apr 18.
Although there is some evidence from twin studies that individual differences in sexual behavior are heritable, little is known about the specific molecular genetic design of human sexuality. Recently, a specific dopamine D4 receptor (DRD4) agonist was shown in rats to induce penile erection through a central mechanism. These findings prompted us to examine possible association between the well-characterized DRD4 gene and core phenotypes of human sexual behavior that included desire, arousal and function in a group of 148 nonclinical university students. We observed association between the exon 3 repeat region, and the C-521T and C-616G promoter region SNPs, with scores on scales that measure human sexual behavior. The single most common DRD4 5-locus haplotype (19%) was significantly associated with Desire, Function and Arousal scores. The current results are consistent with animal studies that show a role for dopamine and specifically the DRD4 receptor in sexual behavior and suggest that one pathway by which individual variation in human desire, arousal and function are mediated is based on allelic variants coding for differences in DRD4 receptor gene expression and protein concentrations in key brain areas.
尽管双胞胎研究有一些证据表明性行为的个体差异具有遗传性，但对于人类性行为的具体分子遗传机制却知之甚少。最近，一种特定的多巴胺D4受体（DRD4）激动剂在大鼠中被证明可通过中枢机制诱导阴茎勃起。这些发现促使我们在一组148名非临床大学生中研究特征明确的DRD4基因与人类性行为的核心表型（包括欲望、唤起和功能）之间可能存在的关联。我们观察到外显子3重复区域以及C-521T和C-616G启动子区域单核苷酸多态性（SNP）与测量人类性行为的量表得分之间存在关联。最常见的DRD4 5位点单倍型（19%）与欲望、功能和唤起得分显著相关。目前的结果与动物研究一致，动物研究表明多巴胺尤其是DRD4受体在性行为中发挥作用，并表明人类欲望、唤起和功能个体差异的一种介导途径是基于关键脑区中编码DRD4受体基因表达和蛋白质浓度差异的等位基因变体。
