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GWAS Study

Genetic determinants of hair, eye and skin pigmentation in Europeans.

Sulem P, Gudbjartsson DF, Stacey SN et al.

17952075 PubMed ID
GWAS Study Type
6918 Participants
782 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

SP
Sulem P
GD
Gudbjartsson DF
SS
Stacey SN
HA
Helgason A
RT
Rafnar T
MK
Magnusson KP
MA
Manolescu A
KA
Karason A
PA
Palsson A
TG
Thorleifsson G
JM
Jakobsdottir M
SS
Steinberg S
PS
Pálsson S
JF
Jonasson F
SB
Sigurgeirsson B
TK
Thorisdottir K
RR
Ragnarsson R
BK
Benediktsdottir KR
AK
Aben KK
KL
Kiemeney LA
OJ
Olafsson JH
GJ
Gulcher J
KA
Kong A
TU
Thorsteinsdottir U
SK
Stefansson K
Chapter II

Abstract

Summary of the research findings

Hair, skin and eye colors are highly heritable and visible traits in humans. We carried out a genome-wide association scan for variants associated with hair and eye pigmentation, skin sensitivity to sun and freckling among 2,986 Icelanders. We then tested the most closely associated SNPs from six regions--four not previously implicated in the normal variation of human pigmentation--and replicated their association in a second sample of 2,718 Icelanders and a sample of 1,214 Dutch. The SNPs from all six regions met the criteria for genome-wide significance. A variant in SLC24A4 is associated with eye and hair color, a variant near KITLG is associated with hair color, two coding variants in TYR are associated with eye color and freckles, and a variant on 6p25.3 is associated with freckles. The fifth region provided refinements to a previously reported association in OCA2, and the sixth encompasses previously described variants in MC1R.

2,986 Icelandic ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

6918
Total Participants
GWAS
Study Type
Yes
Replicated
3,932 European ancestry individuals
Replication Participants
European
Ancestry
Iceland, Netherlands
Recruitment Country
Chapter IV

AI-Generated Summary

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