Petersen Jakob, Kandt Jens, Longley Paul A
Consumer Data Research Centre (CDRC), Department of Geography, University College London (UCL), Gower Street, London, WC1E 6BT, UK.
The Bartlett Centre for Advanced Spatial Analysis (CASA), UCL, Gower Street, London, WC1E 6BT, UK.
Sci Rep. 2022 Feb 9;12(1):2156. doi: 10.1038/s41598-022-05651-8.
Population structure is a confounder on pathways linking genotypes to health outcomes. This study examines whether the historical, geographical origins of British surnames are associated with health outcomes today. We coded hospital admissions of over 30 million patients in England between 1999 and 2013 to their British surname origin and divided their diagnoses into 125 major disease categories (of which 94 were complete-case). A base population was constructed with patients' first admission of any kind. Age- and sex-standardised odds ratios were calculated with logistic regression using patients with ubiquitous English surnames such as "Smith" as reference (alpha = .05; Benjamini-Hochberg false discovery rate (FDR) = .05). The results were scanned for "signals", where a branch of related surname origins all had significantly higher or lower risk. Age- and sex-standardised admission (alpha = .05) was calculated for each signal across area deprivation and surname origin density quintiles. Signals included three branches of English surnames (disorders of teeth and jaw, fractures, upper gastrointestinal disorders). Although the signal with fractures was considered unusual overall, 2 out of the 9 origins in the branch would only be significant at a FDR > .05: OR 0.92 (95% confidence interval 0.86-0.98) and 0.70 (0.55-0.90). The risk was only different in the quintile with the highest density of that group. Differential risk remained when studied across quintiles of area deprivation. The study shows that surname origins are associated with diverse health outcomes and thus act as markers of population structure over and above area deprivation.
人口结构是连接基因型与健康结果的途径中的一个混杂因素。本研究调查了英国姓氏的历史、地理起源是否与当今的健康结果相关。我们将1999年至2013年间英格兰超过3000万患者的医院入院记录按照其英国姓氏起源进行编码,并将他们的诊断分为125个主要疾病类别(其中94个为完整病例)。以首次入院的任何患者构建基础人群。使用姓氏普遍的英国姓氏(如“史密斯”)的患者作为参考,通过逻辑回归计算年龄和性别标准化比值比(α = 0.05;本雅明尼 - 霍奇伯格错误发现率(FDR)= 0.05)。对结果进行“信号”扫描,即相关姓氏起源的一个分支的风险均显著更高或更低。针对每个信号,计算了跨地区贫困和姓氏起源密度五分位数的年龄和性别标准化入院率(α = 0.05)。信号包括三个英国姓氏分支(牙齿和颌骨疾病、骨折、上消化道疾病)。尽管骨折信号总体上被认为不寻常,但该分支的9个起源中有2个仅在FDR > 0.05时才显著:比值比为0.92(95%置信区间0.86 - 0.98)和0.70(0.55 - 0.90)。风险仅在该组密度最高的五分位数中有所不同。在跨地区贫困五分位数进行研究时,差异风险仍然存在。该研究表明,姓氏起源与多种健康结果相关,因此除地区贫困外,还可作为人口结构的标志。