The sequencing of the human genome has allowed the study of the genetic architecture of common diseases: the number of genomic variants that contribute to risk of disease and their joint frequency and effect size distribution. Common diseases are polygenic, with many loci contributing to phenotype, and the cumulative burden of risk alleles determines individual risk in conjunction with environmental factors. Most risk loci occur in noncoding regions of the genome regulating cell- and context-specific gene expression. Although the effect sizes of most risk alleles are small, their cumulative effects in individuals, quantified as a polygenic (risk) score, can identify people at increased risk of disease, thereby facilitating prevention or early intervention.

中文翻译：

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常见病多基因性的发现与启示

人类基因组的测序使我们能够研究常见疾病的遗传结构：导致疾病风险的基因组变异数量及其联合频率和效应大小分布。常见疾病是多基因的，许多位点导致表型，风险等位基因的累积负担决定了个体风险与环境因素的结合。大多数风险位点发生在基因组的非编码区域，这些区域调节细胞和环境特异性基因表达。虽然大多数风险等位基因的效应量很小，但它们在个体中的累积效应（量化为多基因（风险）评分）可以识别疾病风险增加的人，从而促进预防或早期干预。