Scientific Reports (Feb 2023)

Germline VWF/MPRIP and somatoplasm FGA variants synergically confer susceptibility to non-traumatic osteonecrosis of the femoral head

  • Dawei Wang,
  • Longchao Gu,
  • Juan Zheng,
  • Qiang Zhang,
  • Qi Xu,
  • Rongrong Li,
  • Da Song,
  • Chengzhi Ha,
  • Qianqian Zhang,
  • Han Yin,
  • Mingtao Xu,
  • Hongmin Wang,
  • Wei Li,
  • Zhengfeng Yuan,
  • Cuncun Yang,
  • Mingliang Gu

DOI
https://doi.org/10.1038/s41598-023-30260-4
Journal volume & issue
Vol. 13, no. 1
pp. 1 – 9

Abstract

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Abstract Non-traumatic osteonecrosis of the femoral head (ONFH) relies on multiple pathogenic factors, including intravascular coagulation, osteoporosis and lipid metabolism disorders. Despite extensively explored from various aspects, genetic mechanism underlying non-traumatic ONFH has not been fully elucidated. We randomly collected blood and necrotic tissue samples from 32 patients with non-traumatic ONFH as well as blood samples from 30 healthy individuals for whole exome sequencing (WES). Germline mutation and somatic mutation were analyzed to identify new potential pathogenic genes responsible for non-traumatic ONFH. Three genes might correlate with non-traumatic ONFH: VWF, MPRIP (germline mutations) and FGA (somatic mutations). Germline or somatic mutations in VWF, MPRIP and FGA correlate with intravascular coagulation, thrombosis, and consequently, ischemic necrosis of the femoral head.