rs8094402
This variant is located in the MBP gene.
▶Research that mentions this SNP (1)
▶Polymorphisms in pattern‐recognition genes in the innate immunity system and risk of non‐Hodgkin lymphomaAssociationN=926Hu W. et al.(2013)· Environmental and Molecular Mutagenesis
Case-control study of 432 NHL cases and 494 controls examining 285 SNPs in 27 pattern-recognition genes. MBP rs8094402 was associated with decreased NHL risk (OR=0.72, p=0.0018), MASP2 rs12711521 with decreased DLBCL risk (OR=0.57, p=0.0042), and DEFB126 rs6054706 with increased FL risk (OR=1.39, p=0.033). Gene-level analysis showed significant association with MBP for overall NHL and MASP2 and DEFB126 for NHL subtypes.
About MBP
The protein encoded by the classic MBP gene is a major constituent of the myelin sheath of oligodendrocytes and Schwann cells in the nervous system. However, MBP-related transcripts are also present in the bone marrow and the immune system. These mRNAs arise from the long MBP gene (otherwise called "Golli-MBP") that contains 3 additional exons located upstream of the classic MBP exons. Alternative splicing from the Golli and the MBP transcription start sites gives rise to 2 sets of MBP-related transcripts and gene products. The Golli mRNAs contain 3 exons unique to Golli-MBP, spliced in-frame to 1 or more MBP exons. They encode hybrid proteins that have N-terminal Golli aa sequence linked to MBP aa sequence. The second family of transcripts contain only MBP exons and produce the well characterized myelin basic proteins. This complex gene structure is conserved among species suggesting that the MBP transcription unit is an integral part of the Golli transcription unit and that this arrangement is important for the function and/or regulation of these genes. [provided by RefSeq, Jul 2008]
View all MBP variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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