Infections and Immunoepidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Biostatistics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.
Clin Infect Dis. 2023 Feb 8;76(3):521-527. doi: 10.1093/cid/ciac447.
IFNL4 genetic variants that are strongly associated with clearance of hepatitis C virus have been linked to risk of certain opportunistic infections (OIs) and cancers, including Kaposi sarcoma, cytomegalovirus infection, and herpes simplex virus infection. As the interferon (IFN) λ family plays a role in response to viral, bacterial, and fungal infections, IFNL4 genotype might affect risk for a wide range of OIs/cancers.
We examined associations between genotype for the functional IFNL4 rs368234815 polymorphism and incidence of 16 OIs/cancers among 2310 men with human immunodeficiency virus (2038 white; 272 black) enrolled in the Multicenter AIDS Cohort Study during 1984-1990. Our primary analyses used Cox proportional hazards models adjusted for self-reported racial ancestry to estimate hazard ratios with 95% confidence intervals, comparing participants with the genotypes that generate IFN-λ4 and those with the genotype that abrogates IFN-λ4. We censored follow-up at the introduction of highly effective antiretroviral therapies.
We found no statistically significant association between IFNL4 genotype and the incidence of Kaposi sarcoma (hazard ratio, 0.92 [95% confidence interval, .76-1.11]), cytomegalovirus infection (0.94 [.71-1.24]), herpes simplex virus infection (1.37 [.68-2.93]), or any other OI/cancer. We observed consistent results using additive genetic models and after controlling for CD4 cell count through time-dependent adjustment or restriction to participants with a low CD4 cell count.
The absence of associations between IFNL4 genotype and these OIs/cancers provides evidence that this gene does not affect the risk of disease from opportunistic pathogens.
与丙型肝炎病毒清除相关的 IFNL4 遗传变异与某些机会性感染(OIs)和癌症的风险有关,包括卡波西肉瘤、巨细胞病毒感染和单纯疱疹病毒感染。由于干扰素(IFN)λ家族在应对病毒、细菌和真菌感染方面发挥作用,IFNL4 基因型可能会影响广泛的 OIs/癌症的风险。
我们研究了功能性 IFNL4 rs368234815 多态性的基因型与 2310 名人类免疫缺陷病毒(2038 名白人;272 名黑人)男性中 16 种 OIs/癌症的发病率之间的关联,这些男性于 1984-1990 年期间参加了多中心艾滋病队列研究。我们的主要分析使用 Cox 比例风险模型,根据自我报告的种族背景进行调整,以估计风险比及其 95%置信区间,将携带能产生 IFN-λ4 的基因型的参与者与携带能阻断 IFN-λ4 的基因型的参与者进行比较。我们在引入高效抗逆转录病毒疗法时对随访进行了截尾。
我们没有发现 IFNL4 基因型与卡波西肉瘤(危险比,0.92 [95%置信区间,0.76-1.11])、巨细胞病毒感染(0.94 [0.71-1.24])、单纯疱疹病毒感染(1.37 [0.68-2.93])或任何其他 OI/癌症的发病率之间存在统计学显著关联。我们使用加性遗传模型得到了一致的结果,并通过时间依赖性调整或限制在 CD4 细胞计数较低的参与者中进行,以控制 CD4 细胞计数。
IFNL4 基因型与这些 OIs/癌症之间不存在关联,这为该基因不会影响机会性病原体引起的疾病风险提供了证据。