Halbritter Jan
Department of Nephrology and Medical Intensive Care, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
Kidney Int. 2023 Nov;104(5):882-885. doi: 10.1016/j.kint.2023.08.021.
Urinary stone disease is based on gene-environment interaction with an almost 50% heritability. Despite all efforts from exome-sequencing and genome-wide association studies, the genetic factors making up for observed heritability have been incompletely characterized. The study by Sadeghi-Alavijeh et al. leverages the invaluable resources of the 100,000 Genomes Project and the UK Biobank to identify heterozygous rare variants in the phosphate transporter SLC34A3 as a significant factor of urinary stone disease, challenging the traditional concept of Mendelian inheritance.
泌尿系统结石病基于基因与环境的相互作用，遗传度近50%。尽管外显子组测序和全基因组关联研究已付出诸多努力，但构成所观察到的遗传度的遗传因素仍未得到充分表征。萨德吉 - 阿拉维耶等人的研究利用了“十万基因组计划”和英国生物银行的宝贵资源，将磷酸盐转运体SLC34A3中的杂合罕见变异鉴定为泌尿系统结石病的一个重要因素，这对孟德尔遗传的传统概念提出了挑战。
