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Exp Dermatol. 2019 Aug;28(8):892-898. doi: 10.1111/exd.13559. Epub 2018 Jun 28.

A genome wide association study identifies new genes potentially associated with eyelid sagging.

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Équipe Génomique, Bioinformatique et Applications, Chaire de Bioinformatique, Conservatoire National des Arts et Métiers, Paris, France.
Department of Dermatology, Henri Mondor Hospital and EA EpiDermE (Epidémiologie en Dermatologie et Evaluation des Thérapeutiques), UPEC-Université Paris-Est, Créteil, France.
Department of Skin Knowledge & Women Beauty, Chanel R & T, Pantin, France.
Université Paris 13, Equipe de Recherche en Epidémiologie Nutritionnelle (EREN), Centre d'Epidemiologie et Biostatistiques Sorbonne Paris Cité (CRESS), Inserm U1153, Inra U1125, Cnam, COMUE Sorbonne-Paris-Cité, Bobigny, France.
Computer Science Laboratory, University François Rabelais of Tours, Tours, France.
Department of Internal Medicine and Tropical Diseases, Hôpital Saint-André, Bordeaux, France.
Department of Dermatology, University of Vienna Medical School, Vienna, Austria.


Sagging eyelid is considered as an outward of skin ageing and may cause medical issues. However, little is known about the factors involved in sagging eyelid. The study, which aims at determining genetic risk factors for eyelid sagging, was conducted in a cohort of 502 unrelated Caucasian women living in the Paris region. All included participants were aged between 44 and 70 years old (mean age, 57.6 years old). The severity of sagging eyelid was graded in 6 categories by a dermatologist using standardized photographs of the face. A genome wide association study adjusted on potential risk factors (including age and smoking habits) was conducted to identify genetic associations. Two single nucleotide polymorphisms in total linkage disequilibrium on chromosome 10, rs16927253 (P = 7.07 × 10-10 ) and rs4746957 (P = 1.06 × 10-8 ), were significantly associated with eyelid sagging severity. The rs16927253-T and rs4746957-A alleles showed a dominant protective effect towards eyelid sagging. These polymorphisms are located in intronic parts of the H2AFY2 gene which encodes a member of the H2A histone family and very close to the AIFM2 gene that induces apoptosis. Additionally, single nucleotide polymorphisms with a false discovery rate below 0.25 were located nearby the type XIII collagen COL13A1 gene on chromosome 10 and in the ADAMTS18 gene on chromosome 16. Several relevant genes were identified by the genome wide association study for their potential role in the sagging eyelid severity.


epigenetics; genetic association; genome wide association study; histone; skin ageing


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