SMYD1 is the underlying gene for the AnWj-negative blood group phenotype

Vered Yahalom, Nir Pillar, Yingying Zhao, Shirley Modan, Mingyan Fang, Lydia Yosephi, Orna Asher, Eilat Shinar, Gershon Celniker, Haike Resnik-Wolf, Yael Brantz, Hagit Hauschner, Nurit Rosenberg, Le Cheng*, Noam Shomron, Elon Pras

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Background: AnWj is a high-incidence blood group antigen associated with three clinical disorders: lymphoid malignancies, immunologic disorders, and autoimmune hemolytic anemia. The aim of this study was to determine the genetic basis of an inherited AnWj-negative phenotype. Methods: We identified a consanguineous family with two AnWj-negative siblings and 4 additional AnWj-negative individuals without known familial relationship to the index family. We performed exome sequencing in search for rare homozygous variants shared by the two AnWj-negative siblings of the index family and searched for these variants in the four non-related AnWj-negative individuals. Results: Exome sequencing revealed seven candidate genes that showed complete segregation in the index family and for which the two AnWj-negative siblings were homozygous. However, the four additional non-related AnWj-negative subjects were homozygous for only one of these variants, rs114851602 (R320Q) in the SMYD1 gene. Considering the frequency of the minor allele, the chance of randomly finding 4 consecutive such individuals is 2.56 × 10−18. Conclusion: We present genetic and statistical evidence that the R320Q substitution in SMYD1 underlies an inherited form of the AnWj-negative blood group phenotype. The mechanism by which the mutation leads to this phenotype remains to be determined.

Original languageEnglish
Pages (from-to)496-501
Number of pages6
JournalEuropean Journal of Haematology
Issue number4
StatePublished - Oct 2018


  • AnWj
  • R320Q
  • SMYD1
  • blood group antigen
  • exome sequencing
  • hematopoiesis
  • lymphoproliferative diseases
  • red cell disorders


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