病态个体、病态人群再审视:2 型糖尿病差异的罗斯假设检验。

BMJ public health Pub Date : 2023-01-01 Epub Date: 2023-12-26 DOI:10.1136/bmjph-2023-000655
Sonali Gupta, I King Jordan, Leonardo Mariño-Ramírez
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引用次数: 0

摘要

导言:罗斯假说预测,由于种群内部的遗传变异大于种群之间的遗传变异,遗传风险因素将与个体的疾病风险相关,但与种群差异无关;由于种群之间的社会环境差异大于种群内部的社会环境差异,社会环境风险因素将与种群差异相关,但与个体的疾病风险无关:我们利用英国生物库来检验英国 2 型糖尿病(T2D)种族差异的罗斯假说。我们的队列由来自亚裔、黑人和白人群体的 26 912 名参与者组成。根据电子健康记录中是否存在 T2D 诊断代码,将参与者划分为 T2D 病例或对照组。T2D遗传风险采用多基因风险评分(PRS)进行测量,社会经济贫困程度采用汤森指数(TI)进行测量。遗传(PRS)和社会经济(TI)风险因素在族群内部和族群之间的差异采用方差分析法进行计算。采用多变量逻辑回归将 PRS 和 TI 与 T2D 病例联系起来,并采用中介分析法分析 PRS 和 TI 对 T2D 族群差异的影响:英国亚裔 23.34%(OR=5.14,CI=4.68 至 5.65)、黑人 16.64%(OR=3.81,CI=3.44 至 4.22)和白人 7.35%(参考值)的 T2D 患病率存在差异。遗传和社会环境 T2D 风险因素在族群内部(w)的差异大于族群之间(b)的差异:PRS w=64.60%,b=35.40%;TI w=71.18%,b=28.19%。尽管如此,遗传风险(PRS OR=1.96,CI=1.87 至 2.07)和社会经济贫困(TI OR=1.09,CI=1.08 至 1.10)都与 T2D 的个体风险有关,并介导了 T2D 的种族差异(亚裔 PRS=22.5%,TI=9.8%;黑人 PRS=32.0%,TI=25.3%):组内变异相对于组间变异的相对过剩并不排除 T2D 风险因素导致 T2D 的种族差异。我们的研究结果支持对健康差异进行综合研究,包括遗传和社会环境风险因素。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Sick individuals, sick populations revisited: a test of the Rose hypothesis for type 2 diabetes disparities.

Introduction: The Rose hypothesis predicts that since genetic variation is greater within than between populations, genetic risk factors will be associated with individuals' risk of disease but not population disparities, and since socioenvironmental variation is greater between than within populations, socioenvironmental risk factors will be associated with population disparities but not individuals' disease risk.

Methods: We used the UK Biobank to test the Rose hypothesis for type 2 diabetes (T2D) ethnic disparities in the UK. Our cohort consists of 26 912 participants from Asian, black and white ethnic groups. Participants were characterised as T2D cases or controls based on the presence or absence of T2D diagnosis codes in electronic health records. T2D genetic risk was measured using a polygenic risk score (PRS), and socioeconomic deprivation was measured with the Townsend Index (TI). The variation of genetic (PRS) and socioeconomic (TI) risk factors within and between ethnic groups was calculated using analysis of variance. Multivariable logistic regression was used to associate PRS and TI with T2D cases, and mediation analysis was used to analyse the effect of PRS and TI on T2D ethnic group disparities.

Results: T2D prevalence differs for Asian 23.34% (OR=5.14, CI=4.68 to 5.65), black 16.64% (OR=3.81, CI=3.44 to 4.22) and white 7.35% (reference) ethnic groups in the UK. Both genetic and socioenvironmental T2D risk factors show greater within (w) than between (b) ethnic group variation: PRS w=64.60%, b=35.40%; TI w=71.18%, b=28.19%. Nevertheless, both genetic risk (PRS OR=1.96, CI=1.87 to 2.07) and socioeconomic deprivation (TI OR=1.09, CI=1.08 to 1.10) are associated with T2D individual risk and mediate T2D ethnic disparities (Asian PRS=22.5%, TI=9.8%; black PRS=32.0%, TI=25.3%).

Conclusion: A relative excess of within-group versus between-group variation does not preclude T2D risk factors from contributing to T2D ethnic disparities. Our results support an integrative approach to health disparities research that includes both genetic and socioenvironmental risk factors.

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