rs10933175 - MFF-DT, COL4A3

Magnitude 2.0 · 1 study on file

Reported associations

• Whole exome sequencing identifies genetic variants in Chinese Han pregnant women with venous thromboembolism. - Thrombosis research (2022) · Shen Y, Zhang Y, Xiong Y, Zhang Z, Zhang B, Li A, Zhang Z, Ding J, Du J, Che Y · PubMed 35074609

  Venous thromboembolism (VTE) is a common health problem, causing considerable morbidity and mortality. The incidence of VTE is higher in pregnant women than in those who are not pregnant. However, genetic factors for VTE in pregnant women are largely unknown. We performed a large-scale prospective cohort study of 65,138 pregnancies. 24 pregnant patients diagnosed with VTE and 24 matched pregnant women without VTE were enrolled and sequenced by whole exome sequencing. We investigated the occurrence of known VTE risk variants, damaging variants found in thrombophilia genes and rare damaging variants possibly related to VTE in pregnancies. An exome-wide association study was also performed using a case-control design. Our findings suggest that VTE in pregnancies may be mainly related to (i) t

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