rs2068361
This is a intron variant variant in the BMP6 gene.
▶Research that mentions this SNP (1)
▶Genome wide study of maternal and parent‐of‐origin effects on the etiology of orofacial cleftsAssociationN=2,458Min Shi et al.(2012)· American Journal of Medical Genetics Part A
This genome-wide association study examined maternal and parent-of-origin genetic effects on orofacial clefts in over 2,000 case-parent triads from an international consortium. While 15 SNPs showed suggestive maternal effects (p<10⁻⁵) and 18 SNPs showed parent-of-origin effects (p<10⁻⁵), including rs17138064 (p=5×10⁻⁷) in the cleft palate group, none survived genome-wide multiple testing correction. The study concluded that neither maternal genotype nor parent-of-origin effects play major roles in isolated orofacial clefting.
About BMP6
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates a wide range of biological processes including iron homeostasis, fat and bone development, and ovulation. Differential expression of this gene may be associated with progression of breast and prostate cancer. Mutations in this gene may be associated with iron overload in human patients. [provided by RefSeq, Jul 2016]
View all BMP6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…