Luo Pan, Gao Dejin, Wang Chenglong, Guo Rui, Zhang Qingguo
Department of Auricular Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, People's Republic of China.
Clin Cosmet Investig Dermatol. 2024 Sep 14;17:2077-2088. doi: 10.2147/CCID.S479500. eCollection 2024.
The primary aim of this study was to explore whether sex hormones affect the occurrence of basal cell carcinoma (BCC) from a genetic perspective using a two-sample Mendelian randomization (MR) study.
Exposure and outcome data for this MR analysis were derived from previously published GWAS studies. In this study, estradiol, sex hormone-binding globulin (SHBG), bioavailable testosterone, and total testosterone were used as exposures, and BCC was used as the outcome for the two-sample MR analysis. The random effects inverse variance weighted (IVW) model was the primary analytical model, and the simple mode, weighted median, MR-Egger, and weighted mode methods were applied as complementary approaches. Furthermore, the "leave-one-out" sensitivity analysis was performed to assess stability, Cochran's Q test to evaluate heterogeneity, and the MR-Egger intercept test to analyze horizontal multiplicity.
The two-sample MR analysis of the sex hormone and BCC showed that estradiol, sex hormone-binding globulin (SHBG), bioavailable testosterone, and total testosterone were not a causal factor in BCC (P>0.05). The results of the heterogeneity test and horizontal pleiotropic analysis showed that no heterogeneity or horizontal pleiotropic existed in all MR analyses (Cochran's Q-P>0.05, Egger intercept-P>0.05).
The two-sample MR analysis showed that estrogen and testosterone did not affect the occurrence and development of BCC at the genetic level.
本研究的主要目的是通过两样本孟德尔随机化（MR）研究从遗传学角度探讨性激素是否影响基底细胞癌（BCC）的发生。
该MR分析的暴露和结局数据来源于先前发表的全基因组关联研究（GWAS）。在本研究中，雌二醇、性激素结合球蛋白（SHBG）、生物可利用睾酮和总睾酮用作暴露因素，BCC用作两样本MR分析的结局。随机效应逆方差加权（IVW）模型是主要分析模型，简单模型、加权中位数、MR-Egger和加权模式方法用作补充方法。此外，进行“留一法”敏感性分析以评估稳定性，进行Cochran's Q检验以评估异质性，进行MR-Egger截距检验以分析水平多效性。
性激素与BCC的两样本MR分析表明，雌二醇、性激素结合球蛋白（SHBG）、生物可利用睾酮和总睾酮不是BCC的因果因素（P>0.05）。异质性检验和水平多效性分析结果表明，所有MR分析均不存在异质性或水平多效性（Cochran's Q-P>0.05，Egger截距-P>0.05）。
两样本MR分析表明，雌激素和睾酮在基因水平上不影响BCC的发生和发展。
