PMID: 28502801

Genome-Wide Association Shows that Pigmentation Genes Play a Role in Skin Aging.

The Journal of investigative dermatology
MH Law, SE Medland, G Zhu, S Yazar, A Viñuela, L Wallace, SN Shekar, DL Duffy, V Bataille, D Glass, TD Spector, D Wood, , SD Gordon, JM Barbour, AK Henders, AW Hewitt, GW Montgomery, RA Sturm, DA Mackey, AC Green, NG Martin, S MacGregor

12 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
16-90026512-T-C DEF8 c.698-827T>C - IntronicSNV - 6/12
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
5-33952106-C-T SLC45A2 c.1033-324G>A - IntronicSNV - 4/6
16-89736157-C-T SPATA33 c.*252C>T - 3-UTRSNV 3/3 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -