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

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

Authors :
Laville, Vincent
Le Clerc, Sigrid
Ezzedine, Khaled
Jdid, Randa
Taing, Lieng
Labib, Toufik
Coulonges, Cédric
Ulveling, Damien
Galan, Pilar
Guinot, Christiane
Fezeu, Leopold
Morizot, Frédérique
Latreille, Julie
Malvy, Denis
Tschachler, Erwin
Zagury, Jean‐François
Source :
Experimental Dermatology; Aug2019, Vol. 28 Issue 8, p892-898, 7p
Publication Year :
2019

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
09066705
Volume :
28
Issue :
8
Database :
Complementary Index
Journal :
Experimental Dermatology
Publication Type :
Academic Journal
Accession number :
137771859
Full Text :
https://doi.org/10.1111/exd.13559