title: A genome-wide association study in Caucasian women points out a putative role of the STXBP5L gene in facial photoaging.
abstract: A genome-wide association study (GWAS) was conducted on 502 French middle-aged Caucasian women to identify genetic factors that may affect skin aging severity. A high-throughput Illumina Human Omni1-Quad beadchip was used. After single-nucleotide polymorphism (SNP) quality controls, 795,063 SNPs remained for analysis purposes. Possible stratification was first examined using the Eigenstrat method, and then the relationships between genotypes and four skin aging indicators (global photoaging, lentigines, wrinkles, and sagging) were investigated separately by linear regressions adjusted on age, smoking habits, lifetime sun exposure, hormonal status, and the two main Eigen vectors. One signal passed the Bonferroni threshold (P=1.53 × 10(-8)) and was significantly associated with global photoaging. It was also correlated with the wrinkling score and the sagging score. According to HapMap, this SNP, rs322458, was in linkage disequilibrium (LD) with intronic SNPs of the STXBP5L gene, which is expressed in the skin. In addition, it was also in LD with another SNP that increases the expression of the FBXO40 gene in the skin. These two genes, which were not previously described in the context of aging, may constitute good candidates for the investigation of molecular mechanisms of skin photoaging.
authors.affiliation: Chaire de Bioinformatique, Conservatoire National des Arts et Métiers, Paris, France.
authors.forename: Sigrid
authors.initials: S
authors.lastname: Le Clerc
authors.forename: Lieng
authors.initials: L
authors.lastname: Taing
authors.forename: Khaled
authors.initials: K
authors.lastname: Ezzedine
authors.forename: Julie
authors.initials: J
authors.lastname: Latreille
authors.forename: Olivier
authors.initials: O
authors.lastname: Delaneau
authors.forename: Toufik
authors.initials: T
authors.lastname: Labib
authors.forename: Cédric
authors.initials: C
authors.lastname: Coulonges
authors.forename: Anne
authors.initials: A
authors.lastname: Bernard
authors.forename: Safa
authors.initials: S
authors.lastname: Melak
authors.forename: Wassila
authors.initials: W
authors.lastname: Carpentier
authors.forename: Denis
authors.initials: D
authors.lastname: Malvy
authors.forename: Randa
authors.initials: R
authors.lastname: Jdid
authors.forename: Pilar
authors.initials: P
authors.lastname: Galan
authors.forename: Serge
authors.initials: S
authors.lastname: Hercberg
authors.forename: Frederique
authors.initials: F
authors.lastname: Morizot
authors.forename: Christiane
authors.initials: C
authors.lastname: Guinot
authors.forename: Erwin
authors.initials: E
authors.lastname: Tschachler
authors.forename: Jean F
authors.initials: JF
authors.lastname: Zagury
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D044783:F-Box Proteins / Q000235:genetics; D005145:Face; D005260:Female; D055106:Genome-Wide Association Study; D060148:HapMap Project; D006801:Humans; D015810:Linkage Disequilibrium; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D015595:Skin Aging / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; D002352:Carrier Proteins; D044783:F-Box Proteins; C525752:FBXO40 protein, human; C492527:STXBP5L protein, human