Assessment of the genetic basis of rosacea by genome-wide association study

Journal of Investigative Dermatology

Volumn 135, Issue 6, 2015, Pages 1548-1555

  Chang, Anne Lynn S ^a   Raber, Inbar ^a   Xu, Jin ^a   Li, Rui ^a   Spitale, Robert ^a   Chen, Julia ^a   Kiefer, Amy K ^b   Tian, Chao ^b   Eriksson, Nicholas K ^b   Hinds, David A ^b   Tung, Joyce Y ^b  

^a STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b 23andMe Inc ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BTNL2 PROTEIN; HLA DQA1 ANTIGEN; HLA DR ANTIGEN; HLA DRB1 ANTIGEN; MAJOR HISTOCOMPATIBILITY ANTIGEN CLASS 2; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; HLA ANTIGEN CLASS 2; HLA DQ ANTIGEN; HLA-DQA1 ANTIGEN; HLA-DQB1 ANTIGEN; HLA-DRB1*03:01 ANTIGEN;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE IDENTIFICATION; GENE REPLICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HLA SYSTEM; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PAPULOPUSTULAR ROSACEA; PRIORITY JOURNAL; ROSACEA; SINGLE NUCLEOTIDE POLYMORPHISM; AGED; ALLELE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; INFLAMMATION; METABOLISM; PHENOTYPE; QUALITY CONTROL;

ADULT; AGED; ALLELES; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HISTOCOMPATIBILITY ANTIGENS CLASS II; HLA-DQ ALPHA-CHAINS; HLA-DQ BETA-CHAINS; HLA-DRB1 CHAINS; HUMANS; IMMUNOHISTOCHEMISTRY; INFLAMMATION; MALE; MIDDLE AGED; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; QUALITY CONTROL; ROSACEA;

EID: 84946412694     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2015.53     Document Type: Article

References (28)

1. Abram K, Silm H, Maaroos H-I et al. (2010) Risk factors associated with rosacea. J Eur Acad Dermatol Venereol 24:565-71
2. Anderson CA, Boucher G, Lees CW et al. (2011) Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 43:246-52
3. Browning SR, Browning BL (2007) Rapid and accurate haplotype phasing and missing data inference for whole genome association studies using localized haplotype clustering. Am J Hum Genet 81:1084-97
4. Cribier B (2013) Medical history of the representation of rosacea in the 19th century. J Am Acad Dermatol 69:S2-13
5. Dimas AS, Deutsch S, Stranger BE et al. (2009) Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 325: 1246-50
6. Fowler J, Jarratt M, Moore A et al. (2012) Once-daily topical brimonidine tartrate gel 0.5% is a novel treatment for moderate to severe facial erythema of rosacea: results of two multicenter, randomized and vehicle-controlled studies. Br J Dermatol 166:633-41
7. Elewski BE, Draelos Z, Dreno B et al. (2011) Rosacea-global diversity and optimized outcome: proposed international consensus from the Rosacea International Expert Group. JEADV 25:188-200
8. Erlich H, Valdes AM, Noble J et al. (2008) HLA DR-DQ haplotypes and genotypes and type 1 diabetes risk: analysis of the type 1 diabetes genetics consortium families. Diabetes 57:1084-92
9. Freidlin B., Zheng G, Li Z et al. (2002) Trend tests for case-control studies of genetic markers: power, sample size, and robustness. Hum Hered 53: 146-52
10. Gibbs JR, van der Brug MP, Hernandez DG et al. (2010) Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain. PLoS Genet 6:e1000952
11. Henn BM, Hon L, Macpherson JM et al. (2013) Cryptic distant relatives are common in both isolated and cosmopolitan genetic samples. PLoS One 7: e34267
12. Howie B, Fuchsberger C, Stephens M et al. (2012) Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 44:955-9
13. International Multiple Sclerosis Genetics Consortium (2007) Risk alleles for multiple sclerosis identified by a genomewide study. New Eng J Med 357: 851-62
14. Kastelan S, Tomic M, Salopek-Rabatic J et al. (2013) The association between the HLA system and retinopathy development in patients with type 1 diabetes mellitus. Coll Antropol 37(Suppl 1):65-70
15. Krini M, Chouliaras G, Kanariou M et al. (2012) HLA class II high-resolution genotyping in Greek children with celiac disease and impact on disease susceptibility. Pediatr Res 72:625-30
16. Montgomery SB, Sammeth M, Gutierrez-Arcelus M et al. (2010) Transcriptome genetics using second generation sequencing in a Caucasian population. Nature 464:773-7
17. Rallis E, Korfitis C (2012) Isotretinoin for the treatment of granulomatous rosacea: a case report and review of the literature. J Cutan Med Surg 16: 438-41
18. Schadt EE, Molony C, Chudin E et al. (2008) Mapping the genetic architecture of gene expression in human liver. PLoS Biol 6:e107
19. Sirota M, Schaub MA, Batzoglou S et al. (2009) Autoimmune disease classification by inverse association with SNP alleles. PLoS Genet 5: e1000792
20. Spoendlin J, Voegel JJ, Jick SS et al. (2013) Risk of rosacea in patients with diabetes using insulin or oral antidiabetic drugs. J Invest Dermatol 133: 2790-3
21. Steinhoff M, Schauber J, Leyden JJ (2013) New insights into rosacea pathophysiology: a review of recent findings. J Am Acad Dermatol 69: S15-26
22. Stranger BE, Nica AC, Forrest MS et al. (2007) Population genomics of human gene expression. Nat Genet 39:1217-24
23. Valentonyte R, Hampe J, Huse K et al. (2005) Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat Genet 37:357-64
24. Weinstock L.B., Steinhoff M. (2013) Rosacea and small intestinal bacterial overgrowth: prevalence and response to rifaximin. J Am Acad Dermatol 68:875-6
25. Yamasaki K, Di Nardo A, Bardan A et al. (2007) Increased serine protease activity and cathelicidin promotes skin inflammation in rosacea. Nat Med 13:975-80
26. Yamasaki K, Kanada K, Macleod DT et al. (2011) TLR2 expression is increased in rosacea and stimulates enhanced serine protease production by keratinocytes. J Invest Dermatol 131:688-97
27. Zeller T, Wild P, Szymczak S et al. (2010) Genetics and beyond-the transcriptome of human monocytes and disease susceptibility. PLoS One 5: e10693
28. Zheng X, Shen J, Cox C et al. (2013) HIBAG-HLA genotype imputation with attribute bagging. Pharmacogenom J 14:192-200