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GWAS Study

Two newly identified genetic determinants of pigmentation in Europeans.

Sulem P, Gudbjartsson DF, Stacey SN et al.

18488028 PubMed ID
GWAS Study Type
8460 Participants
196 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
JM
Jakobsdottir M
SS
Steinberg S
GS
Gudjonsson SA
PA
Palsson A
TG
Thorleifsson G
PS
Pálsson S
SB
Sigurgeirsson B
TK
Thorisdottir K
RR
Ragnarsson R
BK
Benediktsdottir KR
AK
Aben KK
VS
Vermeulen SH
GA
Goldstein AM
TM
Tucker MA
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

We present results from a genome-wide association study for variants associated with human pigmentation characteristics among 5,130 Icelanders, with follow-up analyses in 2,116 Icelanders and 1,214 Dutch individuals. Two coding variants in TPCN2 are associated with hair color, and a variant at the ASIP locus shows strong association with skin sensitivity to sun, freckling and red hair, phenotypic characteristics similar to those affected by well-known mutations in MC1R.

5,130 Icelandic individuals

Chapter III

Study Statistics

Key metrics and study information

8460
Total Participants
GWAS
Study Type
Yes
Replicated
3,330 European ancestry individuals
Replication Participants
European
Ancestry
Iceland, Netherlands
Recruitment Country
Chapter IV

AI-Generated Summary

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