rs445422
This is a splice region variant variant in the PCM1 gene.
▶Research that mentions this SNP (1)
▶PCM1 and schizophrenia: A replication study in the Northern Swedish populationAssociationN=998Lotte N. Moens et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
A replication study of PCM1 gene variants and schizophrenia in a Northern Swedish population of 486 patients and 512 controls. While the authors failed to replicate associations with previously reported risk alleles rs445422 and rs208747, they found a significant protective association with intronic SNP rs13276297 (P=0.037, OR=0.56). A meta-analysis combining 1,794 schizophrenia patients and 1,553 controls confirmed the original associations with rs445422 (P=0.003) and rs208747 (P=0.016), suggesting PCM1 variants contribute to schizophrenia risk.
About PCM1
The protein encoded by this gene is a component of centriolar satellites, which are electron dense granules scattered around centrosomes. Inhibition studies show that this protein is essential for the correct localization of several centrosomal proteins, and for anchoring microtubules to the centrosome. Chromosomal aberrations involving this gene are associated with papillary thyroid carcinomas and a variety of hematological malignancies, including atypical chronic myeloid leukemia and T-cell lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
View all PCM1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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