MSGene

MSGene - Polymorphism Details

Study:

Partridge, 2004

Gene:

MC1R (MGC14337; MSH-R; SHEP2) View on PDGene

Protein:

melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)(melanocortin 1 receptor; melanotropin receptor)

Chromosome:

16 (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 10 April 2010

Total number of polymorphisms investigated by this study: 5

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		E-Allele	D-Allele	E/E (frequency)	E/D (frequency)	D/D (frequency)
Caucasian
rs1805006 (D84E)	UK	MS CTR	0.02 0.02	0.98 0.98	0 (0.000) 0 (0.000)	12 (0.030) 9 (0.033)	383 (0.970) 265 (0.967)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		C-Allele	R-Allele	C/C (frequency)	C/R (frequency)	R/R (frequency)
Caucasian
rs1805007 (R151C)	UK	MS CTR	0.10 0.09	0.90 0.91	5 (0.012) 2 (0.010)	77 (0.184) 30 (0.152)	337 (0.804) 165 (0.838)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		W-Allele	R-Allele	W/W (frequency)	W/R (frequency)	R/R (frequency)
Caucasian
rs1805008 (R160W)	UK	MS CTR	0.05 0.09	0.95 0.91	0 (0.000) 1 (0.005)	37 (0.095) 38 (0.172)	351 (0.905) 182 (0.824)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		H-Allele	D-Allele	H/H (frequency)	H/D (frequency)	D/D (frequency)
Caucasian
rs1805009 (D294H)	UK	MS CTR	0.04 0.02	0.96 0.98	1 (0.002) 0 (0.000)	29 (0.070) 18 (0.043)	386 (0.928) 404 (0.957)

Case-Control Studies (by ethnic group)
					Genotypes
Polymorphism ID# (Link to NCBI)	Population		M-Allele	V-Allele	M/M (frequency)	M/V (frequency)	V/V (frequency)
Caucasian
rs2228479 (V92M)	UK	MS CTR	0.08 0.10	0.92 0.90	3 (0.008) 7 (0.020)	56 (0.149) 57 (0.165)	317 (0.843) 282 (0.815)

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