rs2305767
This variant is located in the MYO9B gene.
▶Research that mentions this SNP (1)
▶Association between genetic variants in myosin IXB and Crohnʼs diseaseAssociationN=2,492Rachel Cooney et al.(2009)· Inflammatory Bowel Diseases
This case-control study examined the association between 8 MYO9B SNPs and inflammatory bowel disease (IBD), Crohn's disease (CD), and ulcerative colitis (UC) in 652 CD patients, 650 UC patients, and 1190 British controls. The strongest association was found with rs2305767 (OR 0.62, 95% CI 0.53-0.73, p=0.001 for CD), an intronic noncoding variant. A haplotype analysis identified the 11111111 haplotype as carrying increased risk (OR 1.87 for CD), though the study failed to confirm significant associations with UC.
About MYO9B
This gene encodes a member of the myosin family of actin-based molecular motor heavy chain proteins. The protein represents an unconventional myosin; it should not be confused with the conventional non-muscle myosin-9 (MYH9). The protein has four IQ motifs located in the neck domain that bind calmodulin, which serves as a light chain. The protein complex has a single-headed structure and exhibits processive movement on actin filaments toward the minus-end. The protein also has rho-GTPase activity. Polymorphisms in this gene are associated with celiac disease and ulcerative colitis susceptibility. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
View all MYO9B 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…