Genetic determinants of hair and eye colours in the Scottish and Danish populations

Mengel-From, Jonas; Wong, Terence H; Morling, Niels; Rees, Jonathan L; Jackson, Ian J

doi:10.1186/1471-2156-10-88

BMC Genomic Data

Table 3 Associations between SNP alleles with minor allele frequencies and quantitative measures of the hair colours (Lab* values) with P < 0.05 in 107 Scots from Edinburgh.

From: Genetic determinants of hair and eye colours in the Scottish and Danish populations

Gene	Chr.	Position^a	SNP	Min. allele	MAF^b	L* p-value	L* R²	a* p-value	a* R²	b* p-value	b* R²	Hair colour
HPS3	3	Int 1.1	rs4681169	A	0.30			0.046	0.039			Dark
		Int 1.2	rs16861514	T	0.15			0.043	0.039			Dark
		Int 6	rs16861552	C	0.33			0.021	0.054			Dark
		Int 8	rs6785780	T	0.41			0.003	0.079			Red/Light
		Int 13	rs7636389	A	0.07			0.026	0.049			Red/Light
DTNBP1	6	Exon 10 (S272P)	rs17470454	A	0.05	0.011	0.060			0.011	0.044	Light
TYRP1	9	Int 6	rs17346161	T	0.06			0.046	0.037			Red/Light
ERCC6	10	Int 5	rs1018603	C	0.11	0.041	0.041			0.041	0.038	Dark
		Int 9	rs4253162	A	0.07	0.011	0.058			0.011	0.060	Dark
KITLG	12	Int 1.1	rs1492354	A	0.07			0.0009^d	0.119			Red/Light
		Int 1.2	rs1907702	G	0.20			0.018	0.05			Red/Light
		Int 1.3	rs10777129	A	0.08			0.007	0.06	0.043	0.080	Red/Light
OCA2	15	Int 1.1	rs7495174	G	0.05	0.02	0.051			0.024	0.040	Dark
		Int 1.2	rs7174027	A	0.06	0.005	0.075			0.005	0.060	Dark
		Int 2.1	rs12442147	C	0.11	0.03	0.041	0.010	0.066	0.03	0.065	Dark
		Int 2.2	rs12324648	A	0.07			0.019	0.057			Dark
		Int 2.3	rs1470608	A	0.10			0.012	0.063			Dark
		Int 4	rs3794604	A	0.08			0.031	0.042			Dark
		Int 5	rs749846	A	0.11			0.025	0.054			Dark
		Int 19	rs1375166	A	0.20			0.046	0.039			Dark
		Int 23.1	rs2311470	C	0.50			0.005	0.073			Dark
		Int 23.2	rs11858340	A	0.44			0.016	0.053			Red/Light
		Int 23.3	rs6497235	A	0.50	0.03	0.050	0.006	0.069	0.03	0.063	Light
		Int 23.4	rs11074306	A	0.41			0.024	0.048			Dark
		Int 23.5	rs6497233	T	0.41	0.02	0.053	0.0004^e	0.116	0.021	0.098	Light
		Int 23.6	rs17674017	G	0.42			0.005	0.073			Red/Light
		Int 23.7	rs1498509	C	0.49			0.010	0.060			Dark
		Int 23.8	rs11631195	A	0.37	0.004	0.079	0.0002^d	0.126	0.0037^c	0.130	Light
		Int 23.9	rs3947367	G	0.29	0.012	0.059			0.012	0.039	Light
		Int 23.10	rs11637518	G	0.35	0.014	0.051	0.009	0.064	0.014	0.078	Light
		Int 23.11	rs989869	C	0.38	0.008	0.063			0.0077	0.053	Dark
		Int 23.12	rs1603784	A	0.23	0.007	0.063			0.0069	0.041	Dark
MYO05	15	Int 1.1	rs1615028	C	0.17	0.046	0.037					Light
		Int 1.2	rs1724593	G	0.15	0.012	0.059			0.012	0.066	Light
		Int 1.3	rs7176061	C	0.48	0.046	0.041					Dark
		Int 2	rs1724625	T	0.30	0.036	0.044					Light
		Int 5	rs1724630	G	0.21	0.049	0.039			0.049	0.040	Light
		Int 9	rs1632403	T	0.08	0.042	0.039			0.042	0.049	Light
MC1R	16	Exon	R	None	0.21			2.00 × 10^-6c	0.317	0.047^c	0.156	Red
		Exon	r	None	0.23			0.005	0.07			Dark/Light
PRKAR1A	17	Int 2	rs2952275	T	0.36	0.047	0.036					Light
		5' UTR	rs8080306	C	0.27	0.021	0.047					Light
GNAS	20	Int 3	rs2295583	T	0.28	0.03	0.43					Light
		Int 5	rs3730168	A	0.41	0.015	0.052					Dark
		Int 6	rs919197	T	0.43	0.006	0.07			0.0062	0.059	Light
HPS4	22	Int 2	rs9613187	T	0.11	0.012	0.059			0.012	0.037	Light
		Int 5	rs17401652	T	0.10			0.028	0.047			Red/Light

a: Intron (Int), Exon or Untranslated region (UTR) position in the gene
b: Minor allele frequency (MAF)
c: Significant using Bonferroni correction. Other L*, a* and b* values were corrected using empirical permutations
d: Significant using False Discovery Rate correction

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