A genome-wide association study in caucasian women points out a putative role of the STXBP5L gene in facial photoaging

Journal of Investigative Dermatology

Volumn 133, Issue 4, 2013, Pages 929-935

  Le Clerc, Sigrid ^a   Taing, Lieng ^a   Ezzedine, Khaled ^b,c   Latreille, Julie ^d   Delaneau, Olivier ^a,e   Labib, Toufik ^a   Coulonges, Cédric ^a   Bernard, Anne ^d   Melak, Safa ^a   Carpentier, Wassila ^f   Malvy, Denis ^b,c   Jdid, Randa ^d   Galan, Pilar ^b   Hercberg, Serge ^b,g   Morizot, Frederique ^d   Guinot, Christiane ^d,h   Tschachler, Erwin ^d,i   Zagury, Jean F ^a  

^a University of Paris Cité   (France)

^b UNIVERSITÉ PARIS 13   (France)

^c HÔPITAL SAINT ANDRÉ   (France)

^d CERIES   (France)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g AVICENNE HOSPITAL   (France)

^h UNIVERSITÉ DE TOURS   (France)

ⁱ Universitatsklinik fur Dermatologie   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CAUCASIAN; CONTROLLED STUDY; CORRELATIONAL STUDY; CUTANEOUS PARAMETERS; FBXO40 PROTEIN; FEMALE; GENE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENOTYPE; HAPLOTYPE MAP; HEREDITY; HUMAN; HUMAN TISSUE; LINEAR REGRESSION ANALYSIS; PHOTOAGING; PRIORITY JOURNAL; QUALITY CONTROL; SINGLE NUCLEOTIDE POLYMORPHISM; SMOKING; STRATIFICATION; STXBP5L GENE; SUN EXPOSURE; WRINKLE;

EID: 84875214279     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2012.458     Document Type: Article

References (43)

1. Armitage P (1971) Statistical Methods in Medical Research. Blackwell Scientific: Oxford, 504 pp
2. Christensen K, Doblhammer G, Rau R et al. (2009) Ageing populations: the challenges ahead. Lancet 374:1196-208
3. Delaneau O, Coulonges C, Zagury JF (2008) Shape-IT: new rapid and accurate algorithm for haplotype inference. BMC Bioinformatics 9:540
4. Delaneau O, Marchini J, Zagury JF (2012) A linear complexity phasing method for thousands of genomes. Nat Methods 9:179-81
5. Dixon AL, Liang L, Moffatt MF et al. (2007) A genome-wide association study of global gene expression. Nat Genet 39:1202-7
6. Elfakir A, Ezzedine K, Latreille J et al. (2010) Functional MC1R-gene variants are associated with increased risk for severe photoaging of facial skin. J Invest Dermatol 130:1107-15
7. Fisher GJ, Kang S, Varani J et al. (2002) Mechanisms of photoaging and chronological skin aging. Arch Dermatol 138:1462-70
8. Fitzpatrick TB (1988) The validity and practicality of sun-reactive skin types I through VI. Arch Dermatol 124:869-71
9. Guinot C, Malvy D, Latreille J et al. (2001) Sun exposure behaviour of a general adult population in France. In: Ring J, Weidinger S, Darsow U eds Skin and Environment - Perception and Protection. Monduzzi editore S.p.A: Bologna, 1099-106
10. Hercberg S, Galan P, Preziosi P et al. (2004) The SU.VI.MAX Study: a randomized, placebo-controlled trial of the health effects of antioxidant vitamins and minerals. Arch Intern Med 164:2335-42
11. Hercberg S, Galan P, Preziosi P et al. (1998) Background and rationale behind the SU.VI.MAX Study, a prevention trial using nutritional doses of a combination of antioxidant vitamins and minerals to reduce cardiovascular diseases and cancers. SUpplementation en VItamines et Mineraux AntioXydants Study. Int J Vitam Nutr Res 68:3-20
12. Jobson JD (1992) Applied Multivariate Data Analysis, Volume II: Categorical and Multivariate Methods. Springer Verlag: New York, 731 pp
13. Katoh M, Katoh M (2004) Identification and characterization of human LLGL4 gene and mouse Llgl4 gene in silico. Int J Oncol 24:737-42
14. Kligman A, Kligman L (1999) Photoageing. In: Freeberg IM, Eisen AZ, Wolff K et al., (eds) Fitzpatrick's Dermatology in General Medicine. McGraw-Hill: New York, 1717-23
15. Larnier C, Ortonne JP, Venot A et al. (1994) Evaluation of cutaneous photodamage using a photographic scale. Br J Dermatol 130:167-73
16. Le Clerc S, Limou S, Coulonges C et al. (2009) Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03). J Infect Dis 200:1194-201
17. Li Y, Chang M, Abar O et al. (2009) Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection. J Hepatol 51:750-7
18. Limou S, Coulonges C, Herbeck JT et al. (2010) Multiple-cohort genetic association study reveals CXCR6 as a new chemokine receptor involved in long-term nonprogression to AIDS. J Infect Dis 202:908-15
19. Limou S, Le Clerc S, Coulonges C et al. (2009) Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). J Infect Dis 199: 419-26
20. Makrantonaki E, Zouboulis CC (2007) Molecular mechanisms of skin aging: state of the art. Ann NY Acad Sci 1119:40-50
21. Malvy J, Guinot C, Preziosi P et al. (2000) Epidemiologic determinants of skin photoaging: baseline data of the SU.VI.MAX. cohort. J Am Acad Dermatol 42:47-55
22. Morizot F, Lopez S, Guinot C et al. (2002) Development of photographic scales documenting features of skin ageing based on digital images. Ann Dermatol Venereol 129(Suppl 1 Part 2):1s402
23. Nica AC, Parts L, Glass D et al. (2011) The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet 7:e1002003
24. Plomin R, Owen MJ, McGuffin P (1994) The genetic basis of complex human behaviors. Science 264:1733-9
25. Price AL, Patterson NJ, Plenge RM et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38:904-9
26. Puizina-Ivié N (2008) Skin aging. Acta Dermatovenerol Alp Panonica Adriat 17:47-54
27. Purcell S, Neale B, Todd-Brown K et al. (2007) PLINK: a tool set for wholegenome association and population-based linkage analyses. Am J Hum Genet 81:559-75
28. Rabe JH, Mamelak AJ, McElgunn PJ et al. (2006) Photoaging: mechanisms and repair. J Am Acad Dermatol 55:1-19
29. Rooryck C, Morice-Picard F, Elcioglu NH et al. (2008) Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res 21:583-7
30. Safran M, Dalah I, Alexander J et al. (2010) GeneCards Version 3: the human gene integrator. Database (Oxford) 2010:baq020
31. Shekar SN, Duffy DL, Montgomery GW et al. (2006) A genome scan for epidermal skin pattern in adolescent twins reveals suggestive linkage on 12p13.31. J Invest Dermatol 126:277-82
32. Shekar SN, Luciano M, Duffy DL et al. (2005) Genetic and environmental influences on skin pattern deterioration. J Invest Dermatol 125:1119-29
33. Shi J, Luo L, Eash J et al. (2011) The SCF-Fbxo40 complex induces IRS1 ubiquitination in skeletal muscle, limiting IGF1 signaling. Dev Cell 21:835-47
34. Skowyra D, Craig KL, Tyers M et al. (1997) F-box proteins are receptors that recruit phosphorylated substrates to the SCF ubiquitin-ligase complex. Cell 91:209-19
35. Soufir N, Ged C, Bourillon A et al. (2010) A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. J Invest Dermatol 130:1537-42
36. Suppa M, Elliott F, Mikeljevic JS et al. (2011) The determinants of periorbital skin ageing in participants of a melanoma case-control study in the U.K. Br J Dermatol 165:1011-21
37. UniProt (2011) Ongoing and future developments at the Universal Protein Resource. Nucleic Acids Res 39:D214-9
38. WHO (eds) (1995) Physical Status: The Use and Interpretation of Anthropometry. Report of a WHO Expert Committee. WHO Technical Report Series 854Geneva: World Health Organization
39. Yaar M, Gilchrest BA (1990) Cellular and molecular mechanisms of cutaneous aging. J Dermatol Surg Oncol 16:915-22
40. Yaar M, Gilchrest BA (2007) Photoageing: mechanism, prevention and therapy. Br J Dermatol 157:874-87
41. Yang TP, Beazley C, Montgomery SB et al. (2010) Genevar: a database and Java application for the analysis and visualization of SNP-gene associations in eQTL studies. Bioinformatics 26:2474-6
42. Ye J, Zhang Y, Xu J et al. (2007) FBXO40, a gene encoding a novel musclespecific F-box protein, is upregulated in denervation-related muscle atrophy. Gene 404:53-60
43. Zeller T, Wild P, Szymczak S et al. (2010) Genetics and beyond-the transcriptome of human monocytes and disease susceptibility. PLoS One 5:e10693