rs3775261
This variant is located in the MSX1 gene.
▶Research that mentions this SNP (1)
▶Parent‐of‐origin effects for MSX1 in a Chilean population with nonsyndromic cleft lip/palateAssociationN=450José Suazo et al.(2010)· American Journal of Medical Genetics Part A
This case-parent trio study of 150 Chilean families examined parent-of-origin effects for MSX1 in nonsyndromic cleft lip/palate (NSCLP). While individual SNPs showed no significant association via TDT, four haplotypes showed preferential transmission (P = 0.035-0.044). Notably, rs12532 A allele showed a 2.08-fold increased risk for NSCLP when paternally inherited (95% CI: 1.10-4.02; P = 0.025) but not when maternally inherited, suggesting potential epigenetic control by imprinting.
About MSX1
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein functions as a transcriptional repressor during embryogenesis through interactions with components of the core transcription complex and other homeoproteins. It may also have roles in limb-pattern formation, craniofacial development, particularly odontogenesis, and tumor growth inhibition. Mutations in this gene, which was once known as homeobox 7, have been associated with nonsyndromic cleft lip with or without cleft palate 5, Witkop syndrome, Wolf-Hirschom syndrome, and autosomoal dominant hypodontia. [provided by RefSeq, Jul 2008]
View all MSX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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