Journal of Investigative Dermatology published our paper on genes associated with skin youthfullness
To identify genes that promote facial skin youthfulness (SY), a genome-wide association study on an Ashkenazi-Jewish discovery group (n=428) was performed using Affymetrix 6.0 Single Nucleotide Polyorphism (SNP) Array. After SNP quality controls, 901,470 SNPs remained for analysis. Eigenstrat method showed no stratification. Cases and controls were identified by global facial skin aging severity including intrinsic and extrinsic parameters. Linear regression adjusted for age and gender, with no significant differences in smoking history, body mass index, menopausal status or personal or family history of centenarians. Six SNPs met the Bonferroni threshold with p allele < 10^8; 2 of these 6 had p genotype < 10^8. Quantitative trait loci mapping confirmed linkage disequilibrium. The 6 SNPs were interrogated by MassARRAY in a replication group (n=436) with confirmation of rs6975107, an intronic region of KCND2 (p genotype=0.023). A second replication group (n=371) confirmed rs318125, downstream of DIAPH2 (p allele=0.010, p genotype=0.002) and rs7616661, downstream of EDEM1 (p genotype=0.042). DIAPH2 has been associated with premature ovarian insufficiency, an aging phenotype in humans. EDEM1 associates with lifespan in animal models, though not humans. KCND2 is expressed in human skin, but has not been associated with aging. These genes represent new candidate genes to study the molecular basis of healthy skin aging. Read more.