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MSGene - Gene overview of all published MS-association studies for CYP27B1
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 Gene: CYP27B1  (CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI)  Entrez Gene
 Protein: cytochrome P450, family 27, subfamily B, polypeptide 1  (1alpha(OH)ase; 25 hydroxyvitamin D3-1-alpha hydroxylase; 25-Hydroxyvitamin D3 1alpha-hydroxylase; 25-OHD-1 alpha-hydroxylase; 25-hydroxyvitamin D-1-alpha-hydroxylase; P450C1-alpha; P450VD1-alpha; VD3 1A hydroxylase; VDDR I; calcidiol 1-monooxygenase; cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1; cytochrome P450, subfamily XXVIIB, polypeptide 1)  ProteinLink
 Chromosome: 12   (View: 1  2  3  4  5  6  7  8  9  10  11  12  13  14  15  16  17  18  19  20  21  22  X  Y  MT)
 Status: Updated 25 November 2011
Meta-Analysis
1. Case-Control Studies (by ethnic group)
      MS Cases Normal Controls  
Study Population Source # Polys # Subjects
(% women)
DX Onset Age
(range)
Age
(range)
# Subjects
(% women)
Age
(range)
Result
 Caucasian
ANZgene, 2009
Overlaps with
Simon, 2011 (GWAS: Australia, New Zealand, UK, USA)
CL,PO  1  (detail)  1618
(72%)
O/M34.1
(7-67)
-3413
(-)
-n.a.
ANZgene, 2009
Australia, New Zealand (REP) CL  1  (detail)  2256
(78%)
O/M345
(4-73)
-2310
(-)
-Positive
Aulchenko, 2008
Netherlands (GWAS) CL  1  (detail)  45
(-)
O/M--195
(-)
-Negative
Baranzini, 2008
USA, Netherlands, Switzerland (GWAS) CL  1  (detail)  978
(67%)
MD1&234
(11-61)
47
(21-69)
883
(66%)
46
(21-69)
Negative
IMSGC, 2007
Overlaps with
Simon, 2011 (GWAS: UK, USA)
CL,PO  1  (detail)  931
(75%)
MD1&227.8
(10-51)
38.6
(17-59)
2431
(-)
-n.a.
Simon, 2009
USA (NHS-Women) CL  2  (detail)  214
(100%)
O/M--428
(100%)
-Negative
Simon, 2011
USA (IMSGC-GWAS, BWH-GWAS), UK (IMSGC-GWAS) CL  1  (detail)  1655
(-)
MD1--6349
(-)
-Positive
Sundqvist, 2010
Sweden CL  7  (detail)  2158
(72%)
MD1--1759
(67%)
-Positive
Contact us if you are an author of an association study regarding this gene and do not find your study in this table or find errors in the representation of your study details.
2. Family-Based Studies (by ethnic group)
      Affecteds Unaffecteds  
Study Population # Polys # Families # Subjects
(% women)
DX Onset Age
(range)
Age
(range)
# Subjects
(% women)
Age
(range)
Result
 Caucasian
Orton, 2008
Canada  2  (detail)  99115
(-)
U--83
(-)
-Negative
Contact us if you are an author of an association study regarding this gene and do not find your study in this table or find errors in the representation of your study details.
Source:  Source of case population -> “CL” (clinic-based), “PO” (population-based), or “CO” (community-based).
# Polys:  Number of polymorphisms tested per gene and per sample.
Onset Age and Age:  Mean or median age at onset or examination, respectively.
DX:  Criteria used to determine MS diagnosis ->  "P" (Poser criteria, 1983), "MD1" (McDonald criteria, 2001), "MD2" (revised McDonald criteria, 2005), "MD1&2" (McDonald criteria, 2001 and 2005), "O/M" (other/mixed), "U" (Unknown).
Result:  Overall conclusion reached by authors of the original publication (“positive” usually indicates significant (P<0.05) association in at least one of the performed analyses, and “negative” indicates no evidence for significant association, while “trend” indicates results in between).
(-) :  Either no data provided or in case of overlap, data included in original study.
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MSGene Stats
Studies: 789
Genes: 809
Polymorphisms: 2907
Meta-analyses: 324
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