Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF
Huffman JE., de Vries PS., Morrison AC., Sabater-Lleal M., Kacprowski T., Auer PL., Brody JA., Chasman DI., Chen M-H., Guo X., Lin L-A., Marioni RE., Müller-Nurasyid M., Yanek LR., Pankratz N., Grove ML., de Maat MPM., Cushman M., Wiggins KL., Qi L., Sennblad B., Harris SE., Polasek O., Riess H., Rivadeneira F., Rose LM., Goel A., Taylor KD., Teumer A., Uitterlinden AG., Vaidya D., Yao J., Tang W., Levy D., Waldenberger M., Becker DM., Folsom AR., Giulianini F., Greinacher A., Hofman A., Huang C-C., Kooperberg C., Silveira A., Starr JM., Strauch K., Strawbridge RJ., Wright AF., McKnight B., Franco OH., Zakai N., Mathias RA., Psaty BM., Ridker PM., Tofler GH., Völker U., Watkins H., Fornage M., Hamsten A., Deary IJ., Boerwinkle E., Koenig W., Rotter JI., Hayward C., Dehghan A., Reiner AP., O’Donnell CJ., Smith NL.
<jats:title>Key Points</jats:title> <jats:p>Twelve independent, novel, low-frequency (n = 2) and rare (n = 10) genetic variants were associated with fibrinogen, FVII, FVIII, or vWF. Nine were within previously associated genes, and 3 novel candidate genes (KCNT1, HID1, and KATNB1) were confined to cohorts of African ancestry.</jats:p>