Ferrara Elisabetta, D'Albenzio Alessandro, Rapone Biagio, Balice Giuseppe, Murmura Giovanna
Department of Human Sciences, Law, and Economics, Telematic University "Leonardo Da Vinci", UNIDAV, Torrevecchia Teatina, 66100 Chieti, Italy.
Complex Operative Unit of Pathological Addiction, Addiction Service, ASL2 Abruzzo, 66100 Chieti, Italy.
Genes (Basel). 2025 Jul 28;16(8):901. doi: 10.3390/genes16080901.
Polygenic risk scores (PRS) have emerged as promising tools for disease risk stratification. However, their validity across different populations remains unclear, particularly for autoimmune diseases, where environmental factors may play crucial roles.
We calculated the population-level PRS for Sjögren's syndrome using seven validated genetic variants (PGS001308) and allele frequency data from the 1000 Genomes Project Phase 3 for five European populations (CEU, TSI, FIN, GBR, and IBS). PRS values were correlated with published prevalence estimates from a systematic literature review. Statistical analyses included Pearson's correlation and sensitivity analyses.
PRS values varied across European populations, ranging from 0.317 in the Spanish population to 0.370 in the Northern European population. A non-significant negative trend was observed between population PRS and Sjögren's syndrome prevalence (r = -0.407, R = 0.166). Italy showed the lowest genetic risk score (TSI: 0.349) but the highest disease prevalence (58.2 per 100,000), while Northern European populations demonstrated a higher PRS but lower prevalence.
No significant correlation was found between genetic risk scores and disease prevalence in this limited sample of five European populations. Larger studies are needed to clarify the relationship between polygenic risk and disease prevalence.
多基因风险评分（PRS）已成为疾病风险分层的有前景的工具。然而，它们在不同人群中的有效性仍不明确，特别是对于自身免疫性疾病，环境因素可能起关键作用。
我们使用七个经过验证的基因变异（PGS001308）和来自千人基因组计划第三阶段的五个欧洲人群（CEU、TSI、FIN、GBR和IBS）的等位基因频率数据，计算了干燥综合征的人群水平PRS。PRS值与系统文献综述中公布的患病率估计值相关。统计分析包括Pearson相关性分析和敏感性分析。
PRS值在欧洲人群中有所不同，从西班牙人群的0.317到北欧人群的0.370不等。观察到人群PRS与干燥综合征患病率之间存在不显著的负趋势（r = -0.407，R = 0.166）。意大利显示出最低的遗传风险评分（TSI：0.349）但最高的疾病患病率（每10万人中58.2例），而北欧人群的PRS较高但患病率较低。
在这五个欧洲人群的有限样本中，未发现遗传风险评分与疾病患病率之间存在显著相关性。需要更大规模的研究来阐明多基因风险与疾病患病率之间的关系。
