MSGene

MSGene - Gene overview of all published MS-association studies for CYP27B1

Gene:

CYP27B1 (CP2B; CYP1; CYP1alpha; CYP27B; P450c1; PDDR; VDD1; VDDR; VDDRI)

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)

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

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/M	34.1 (7-67)	-	3413 (-)	-	n.a.
ANZgene, 2009	Australia, New Zealand (REP)	CL	1 (detail)	2256 (78%)	O/M	345 (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&2	34 (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&2	27.8 (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)	99	115 (-)	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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