I found paper showing the SNP in CYP27B1 is associated with MS,
but I found the SNP in NCBI showing it's located in gene AGAP2 rather than CYP27B1?
anything wrong?or the SNP in AGAP2 has strong linkage disequilibrium or transmission rate with CYP27B1???
CYP27B1 converts 25-hydroxy-vitamin D into the active metabolite 1,25-dihydroxy-vitamin D. The investigation of families with multiple cases of MS found a loss-of-function variant and other rare variants of CYP27B1 to be predictive of MS in family members (Ramagopalan SV, et al. Ann Neurol. 2011 Dec;70(6):881-6). The shared effect of functionally relevant CYP27B1 variants is their effect on active vitamin D metabolite concentration. It has been observed that variants as far away as the AGAP2 (CENTG1) gene, are linked to CYP27B1 variants. This is not surprising, since HapMap data of Caucasian and East Asian populations show conserved haplotypes extending well over both genes (see http://hapmap.ncbi.nlm.nih.gov/cgi-perl/gbrowse/hapmap3r3_B36/#search). Clearly, this region has been under significant selective pressure, probably related to availability of UV exposure for vitamin D production.
hi Martin,
did you mean if the variant on APAG2 will induce the loss of function of CYP27B1 or it has strong linkage disequilibrium with a variant on CYP27B1?
And I cannot see anything from http://hapmap.ncbi.nlm.nih.gov/cgi-perl/gbrowse/hapmap3r3_B36/#search, i will learn it first
thank u
ming
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