Replication analysis of genome wide studies of atopic dermatitis in the Republic of Bashkortostan
https://doi.org/10.1234/XXXX-XXXX-2016-4-25-28
Abstract
Atopic dermatitis (AD) - chronic inflammatory skin disease, which usually arise in early childhood and often precedes allergic diseases. To date several genome-wide analysis are conducted and they revealed some new polymorphic loci that are associated with atopic dermatitis development. We investigated polymorphic variants located in the 11q13.5 chromosomal region ( C11orf30 and LRRC32 genes), and SNPs in KIF3A, OVOL1 and ACTL9 genes as well. Association of rs2508755 polymorphism of the C11orf30 gene with atopic dermatitis in Tatars was shown.
About the Authors
G. F. Gimalova
Institute of Biochemistry and Genetics of Ufa Scientific Centre of the Russian Academy of Scien
Russian Federation
Russian Federation
A. S. Karunas
Институт биохимии и генетики Уфимского научного центра Российской академии наук; Башкирский государственный университет; Bashkir State University
Russian Federation
Russian Federation
Y. Y. Fedorova
Institute of Biochemistry and Genetics of Ufa Scientific Centre of the Russian Academy of Scien
Russian Federation
Russian Federation
E. R. Gumennaya
Dermatovenerological Dispensary of the Republic of Bashkortostan
Russian Federation
Russian Federation
S. V. Levashova
Bashkir State Medical University
Russian Federation
Russian Federation
E. I. Etkina
Bashkir State Medical University
Russian Federation
Russian Federation
E. K. Khusnutdinova
Institute of Biochemistry and Genetics of Ufa Scientific Centre of the Russian Academy of Scien
Russian Federation
Russian Federation
References
1. Odhiambo JA, Williams HC, Clayton TO et al. Global variations in prevalence of eczema symptoms in children from ISAAC Phase Three. J Allergy Clin Immunol. 2009;124:1251-1258.
2. Schultz-Larsen F, Holm NV, Henningsen K. Atopic dermatitis: a genetic-epidemiologic study in a population-based twin study. J Am Acad Dermatol. 1993;28:719-23.
3. Williams HC. Clinical practice: atopic dermatitis. NEJM. 2005;352:2314-2324.
4. Esparza-Gordillo J, Weidinger S, Folster-Holst R et al. A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet. 2009;41:596-601.
5. Hughes-Davies L, Huntsman D, Ruas M et al. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. Cell. 2003;115:523-535.
6. Ollendorff V, Szepetowski P, Mattei M-G et al. New gene in the homologous human 11q13-q14 and mouse 7F chromosomal regions. Mamm Genome. 1992;2:195-200.
7. Paternoster L, Standl M, Chen CM et al. Meta-analysis of genome-wide association studies identifies three new risk loci for atopic. Nat Genet. 2011;44(2):187-192.
8. Hirota T, Takahashi A, Kubo M et al. Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. Nat Genet. 2012;44(11):1222-1226.
9. O’Regan GM, Campbell LE Irvine AD et al. Chromosome 11q13.5 variant associated with childhood eczema: an effect supplementary to filaggrin mutations. J Allergy Clin Immunol. 2010;125(1):170-4.
10. Ramasamy A, Curjuric I, Coin LJ, et al. A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order. J Allergy Clin Immunol. 2011;128(5):996-1005.
11. Li X, Ampleford EJ, Howard TD et al. The C11orf30-LRRC32 region is associated with total serum IgE levels in asthmatic patients. J Allergy Clin Immunol. 2012;129(2):575-578.
12. Ezell SA., Tsichlis PN. Akt1, EMSY, BRCA2 and type I IFN signaling: a novel arm of the IFN response. Transcription. 2012;3(6):305-309.
Review
For citations:
Gimalova G.F., Karunas A.S., Fedorova Y.Y., Gumennaya E.R., Levashova S.V., Etkina E.I., Khusnutdinova E.K. Replication analysis of genome wide studies of atopic dermatitis in the Republic of Bashkortostan. Medical Genetics. 2016;15(4):25-28. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-4-25-28
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