Bragazzi Nicola Luigi, Converti Manlio, Crapanzano Andrea, Zerbetto Riccardo, Siri Anna, Khamisy-Farah Rola
Laboratory for Industrial and Applied Mathematics (LIAM), Department of Mathematics and Statistics, York University, Toronto, ON, Canada.
Postgraduate School of Public Health, Department of Health Sciences (DISSAL), University of Genoa, Genoa, Italy.
Front Genet. 2023 Aug 24;14:1184758. doi: 10.3389/fgene.2023.1184758. eCollection 2023.
Whether human sexuality is the result of nature or nurture (or their complex interplay) represents a hot, often ideologically driven, and highly polarized debate with political and social ramifications, and with varying, conflicting findings reported in the literature. A number of heritability and behavioral genetics studies, including pedigree-based investigations, have hypothesized inheritance patterns of human sexual behaviors. On the other hand, in most twin, adoption, and nuclear family studies, it was not possible to disentangle between underlying genetic and shared environmental sources. Furthermore, these studies were not able to estimate the precise extent of genetic loading and to shed light both on the number and nature of the putative inherited factors, which remained largely unknown. Molecular genetic studies offer an unprecedented opportunity to overcome these drawbacks, by dissecting the molecular basis of human sexuality and allowing a better understanding of its biological roots if any. However, there exists no systematic review of the molecular genetics of human sexuality. Therefore, we undertook this critical systematic review and appraisal of the literature, with the ambitious aims of filling in these gaps of knowledge, especially from the methodological standpoint, and providing guidance to future studies. Sixteen studies were finally retained and overviewed in the present systematic review study. Seven studies were linkage studies, four studies utilized the candidate gene approach, and five studies were GWAS investigations. Limitations of these studies and implications for further research are discussed.
人类性行为是由天性还是教养（或二者的复杂相互作用）所致，这是一场激烈且往往受意识形态驱动、高度两极分化的辩论，具有政治和社会影响，文献中报道的研究结果也各不相同且相互冲突。一些遗传性和行为遗传学研究，包括基于谱系的调查，对人类性行为的遗传模式进行了假设。另一方面，在大多数双胞胎、收养和核心家庭研究中，无法区分潜在的遗传因素和共同的环境因素。此外，这些研究无法估计基因负荷的精确程度，也无法阐明假定遗传因素的数量和性质，这些因素在很大程度上仍然未知。分子遗传学研究提供了一个前所未有的机会来克服这些缺点，通过剖析人类性行为的分子基础，并更好地理解其生物学根源（如果有的话）。然而，目前尚无关于人类性行为分子遗传学的系统综述。因此，我们对文献进行了这一关键的系统综述和评估，目标宏大，旨在填补这些知识空白，尤其是从方法论的角度，并为未来的研究提供指导。在本系统综述研究中，最终保留并概述了16项研究。其中7项为连锁研究，4项采用候选基因方法，5项为全基因组关联研究。讨论了这些研究的局限性以及对进一步研究的启示。
