Identification of Genetic Loci Associated with Facial Wrinkles in a Large Korean Population

Lee, Seo-Gyeong; Shin, Joong‐Gon; Kim, Yunkwan; Leem, Sangseob; Park, Sun Gyoo; Won, Hong-Hee; Kang, Nae Gyu

doi:10.1016/j.jid.2022.03.027

Cited by 4 publications

(4 citation statements)

References 13 publications

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“…As wrinkles around the eyes reportedly have a significant influence on the perception of age [ 17 , 18 , 19 ], they should be treated well for a healthier and younger appearance. SNPs related to the periorbital skin, the location for under-eye wrinkles and crow’s feet, have been identified by a GWAS [ 20 ]. This study identified seven genetic loci significantly associated with under-eye wrinkles: rs13005242 (500 bp downstream of EN1 ), rs4894405 (3q23), rs12503455 (intron in SPATA5 ), rs117927610 (4q31.21), rs10117511 (9p21.3), rs749810 (intron in EDAR ), and rs74653330 (exon in OCA2 ) [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

“…SNPs related to the periorbital skin, the location for under-eye wrinkles and crow’s feet, have been identified by a GWAS [ 20 ]. This study identified seven genetic loci significantly associated with under-eye wrinkles: rs13005242 (500 bp downstream of EN1 ), rs4894405 (3q23), rs12503455 (intron in SPATA5 ), rs117927610 (4q31.21), rs10117511 (9p21.3), rs749810 (intron in EDAR ), and rs74653330 (exon in OCA2 ) [ 20 ]. In addition, six genetic loci associated with crow’s feet were discovered: rs10810635 (intron in BNC2 ), rs72620727 (12q21.33), rs74653330 (exon in OCA2 ), rs2240751 (exon in MFSD12 ), rs36015125 (intron in FARSB ), and rs11198112 (10q26.11) [ 20 ].…”

Section: Introductionmentioning

confidence: 99%

“…This study identified seven genetic loci significantly associated with under-eye wrinkles: rs13005242 (500 bp downstream of EN1 ), rs4894405 (3q23), rs12503455 (intron in SPATA5 ), rs117927610 (4q31.21), rs10117511 (9p21.3), rs749810 (intron in EDAR ), and rs74653330 (exon in OCA2 ) [ 20 ]. In addition, six genetic loci associated with crow’s feet were discovered: rs10810635 (intron in BNC2 ), rs72620727 (12q21.33), rs74653330 (exon in OCA2 ), rs2240751 (exon in MFSD12 ), rs36015125 (intron in FARSB ), and rs11198112 (10q26.11) [ 20 ]. Although this study identified genes related to various wrinkles, it has a limitation: it did not investigate the mechanisms of genes in relation to wrinkles.…”

Section: Introductionmentioning

confidence: 99%

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Fine Wrinkle Improvement through Bioactive Materials That Modulate EDAR and BNC2 Gene Expression

Lee,

Ye,

Kim

et al. 2024

Biomolecules

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Skin aging is a multifaceted biological phenomenon influenced by a combination of intrinsic or extrinsic factors. There is an increasing interest in anti-aging materials including components that improve skin wrinkles. Despite the availability of several such wrinkle-improving materials, the demand for ingredients with outstanding efficacy is increasing. Therefore, this study aimed to explore the mechanisms of wrinkle-related genes reported in previous genome-wide association studies (GWASs), identify materials that regulate these genes, and develop an effective anti-wrinkle formula containing the active ingredients that regulate the expression of these genes. We selected two candidate genes, EDAR and BNC2, that are reportedly related to periorbital wrinkles. We investigated their functions in the skin through in vitro experiments using human skin cell lines (keratinocytes and fibroblasts). Moreover, we identified ingredients that regulate the expression of these two genes and confirmed their efficacy through in vitro experiments using the skin cell lines. Finally, we developed a formula containing these ingredients and confirmed that it enhanced dermal collagen in the 3D skin and improved fine wrinkles under the eyes more effectively than retinol in humans, when applied for 8 weeks. Our results are significant and relevant, as we have discovered a special formula for wrinkle improvement with reliable efficacy that surpasses the efficacy of retinol and does not cause side-effects such as skin irritation.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Fine Wrinkle Improvement through Bioactive Materials That Modulate EDAR and BNC2 Gene Expression

Lee,

Ye,

Kim

et al. 2024

Biomolecules

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“…A genome-wide association analysis to identify genetic loci associated with facial wrinkles in the Korean population unraveled variants of PPARGC1B that encode PGC-1β as a significantly linked locus [ 23 ]. In this study, we examined a library of bioactive materials, suitable as cosmetic ingredients, to identify substances possessing the ability to enhance the expression of PPARGC1B , the gene encoding PGC-1β.…”

Section: Introductionmentioning

confidence: 99%

Improvement in Facial Wrinkles Using Materials Enhancing PPARGC1B Expression Related to Mitochondrial Function

Lee,

Ye,

Kim

et al. 2024

CIMB

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Skin aging is an unavoidable natural phenomenon caused by intrinsic and extrinsic factors. In modern society, the pursuit of a wrinkle-free and aesthetically appealing face has gained considerable prominence. Numerous studies have aimed at mitigating the appearance of facial wrinkles. Antiaging research focused on regulating the function of mitochondria, the main reactive oxygen species-generating organelles, has been extensively conducted. In this study, we investigated the correlation between facial wrinkles and the expression of PPARGC1B, considering the association of this gene with mitochondrial function, to identify its potential as a target for exploring antiaging cosmetic materials. We elucidated the role of PPARGC1B in the skin and identified five bioactive materials that modulated its expression. The effectiveness of these materials was verified through in vitro experiments on human dermal fibroblasts. We prepared cosmetic formulations incorporating the five materials and confirmed their ability to enhance dermal collagen in three-dimensional skin models and reduce facial wrinkles under the eyes and nasolabial fold areas in human subjects. The study findings have significant implications for developing novel antiaging cosmetic formulations by reinforcing mitochondrial functions.

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Artificial Intelligence Approaches for Skin Anti-aging and Skin Resilience Research

Georgievskaya¹,

Danko²,

Baxter³

et al. 2023

Healthy Ageing and Longevity

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Identification of Genetic Loci Associated with Facial Wrinkles in a Large Korean Population

Cited by 4 publications

References 13 publications

Fine Wrinkle Improvement through Bioactive Materials That Modulate EDAR and BNC2 Gene Expression

Fine Wrinkle Improvement through Bioactive Materials That Modulate EDAR and BNC2 Gene Expression

Improvement in Facial Wrinkles Using Materials Enhancing PPARGC1B Expression Related to Mitochondrial Function

Artificial Intelligence Approaches for Skin Anti-aging and Skin Resilience Research

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