Genetic vs Environmental Factors That Correlate With Rosacea: A Cohort-Based Survey of Twins | Dermatology | JAMA Dermatology | JAMA Network
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1.
Chosidow  O, Cribier  B.  Epidemiology of rosacea: updated data.  Ann Dermatol Venereol. 2011;138(suppl 3):S179-S183.PubMedGoogle ScholarCrossref
2.
Abram  K, Silm  H, Maaroos  H-I, Oona  M.  Risk factors associated with rosacea.  J Eur Acad Dermatol Venereol. 2010;24(5):565-571.PubMedGoogle ScholarCrossref
3.
Steinhoff  M, Schauber  J, Leyden  JJ.  New insights into rosacea pathophysiology: a review of recent findings.  J Am Acad Dermatol. 2013;69(6)(suppl 1):S15-S26.PubMedGoogle ScholarCrossref
4.
Bataille  V, Snieder  H, MacGregor  AJ, Sasieni  P, Spector  TD.  The influence of genetics and environmental factors in the pathogenesis of acne: a twin study of acne in women.  J Invest Dermatol. 2002;119(6):1317-1322.PubMedGoogle ScholarCrossref
5.
Bataille  V, Lens  M, Spector  TD.  The use of the twin model to investigate the genetics and epigenetics of skin diseases with genomic, transcriptomic and methylation data.  J Eur Acad Dermatol Venereol. 2012;26(9):1067-1073.PubMedGoogle ScholarCrossref
6.
Palleschi  GM, Torchia  D.  Rosacea in a monozygotic twin.  Australas J Dermatol. 2007;48(2):132-133.PubMedGoogle ScholarCrossref
7.
Fitzpatrick  TB.  The validity and practicality of sun-reactive skin types I through VI.  Arch Dermatol. 1988;124(6):869-871.PubMedGoogle ScholarCrossref
8.
 National Weather Service. Climate Prediction Center. Index—annual time series; 2013. http://www.cpc.ncep.noaa.gov/products/stratosphere/uv_index/uv_annual.shtml. Accessed January 30, 2015.
9.
 National Weather Service. Climate Prediction Center. UV index. 2013. http://www.cpc.ncep.noaa.gov/products/stratosphere/uv_index/uv_information.shtml. Accessed January 30, 2015.
10.
Wilkin  J, Dahl  M, Detmar  M,  et al.  Standard classification of rosacea: report of the National Rosacea Society Expert Committee on the classification and staging of rosacea.  J Am Acad Dermatol. 2002;46(4):584-587.PubMedGoogle ScholarCrossref
11.
Wilkin  J, Dahl  M, Detmar  M,  et al; National Rosacea Society Expert Committee.  Standard grading system for rosacea: report of the National Rosacea Society Expert Committee on the classification and staging of rosacea.  J Am Acad Dermatol. 2004;50(6):907-912.PubMedGoogle ScholarCrossref
12.
Wilkin  J, Dahl  M, Detmar  M.  Grading system for rosacea. Published June 2004. http://www.rosacea.org/grading/gradingsystem.php. Accessed May 27, 2015.
13.
Helfrich  YR, Maier  LE, Cui  Y,  et al.  Clinical, histologic, and molecular analysis of differences between erythematotelangiectatic rosacea and telangiectatic photoaging [published online March 23, 2015].  JAMA Dermatol. 2015. doi:10.1001/jamadermatol.2014.4728.PubMedGoogle Scholar
14.
Jinks  JL, Fulker  DW.  Comparison of the biometrical genetical, MAVA, and classical approaches to the analysis of human behavior.  Psychol Bull. 1970;73(5):311-349.PubMedGoogle ScholarCrossref
15.
Diggle  PJ, Liang  K-Y, Zeger  SL.  Analysis of Longitudinal Data. New York, NY: Clarendon Press; 1994:253.
16.
D’Agostino  RB  Jr.  Propensity score methods for bias reduction in the comparison of a treatment to a non-randomized control group.  Stat Med. 1998;17(19):2265-2281.PubMedGoogle ScholarCrossref
17.
Rosenbaum  PR, Rubin  DB.  The central role of the propensity score in observational studies for causal effects.  Biometrika. 1983;70:41-55.Google ScholarCrossref
18.
Parsons  LS. Performing a 1:N case-control match on propensity score. In:  Proceedings of the 29th Annual SAS Users Group International Conference. Cary, NC: SAS Institute Inc; 2004:1-11.
19.
Neale  RE, Carrière  P, Murphy  MFG, Baade  PD.  Testicular cancer in twins: a meta-analysis.  Br J Cancer. 2008;98(1):171-173.PubMedGoogle ScholarCrossref
20.
Gosden  RG, Treloar  SA, Martin  NG,  et al.  Prevalence of premature ovarian failure in monozygotic and dizygotic twins.  Hum Reprod. 2007;22(2):610-615.PubMedGoogle ScholarCrossref
Original Investigation
November 2015

Genetic vs Environmental Factors That Correlate With Rosacea: A Cohort-Based Survey of Twins

Author Affiliations
  • 1Department of Dermatology, University Hospitals Case Medical Center, Cleveland, Ohio
  • 2Department of Epidemiology & Biostatistics, University Hospitals Case Medical Center, Cleveland, Ohio
  • 3Department of Pathology, Case Western Reserve University, Cleveland, Ohio
  • 4Department of Molecular Biology and Microbiology, Case Western Reserve University, Cleveland, Ohio
JAMA Dermatol. 2015;151(11):1213-1219. doi:10.1001/jamadermatol.2015.2230
Abstract

Importance  To our knowledge, this is the first study on rosacea to formally define genetic and environmental contributions.

Objectives  To study a cohort of identical and fraternal twins to determine whether genetic factors contribute to rosacea development and, if genetic factors are present, quantitatively estimate the genetic contribution, as well as to identify environmental factors that correlate with rosacea by controlling for genetic susceptibility.

Design, Setting, and Participants  Identical and fraternal twins were surveyed regarding risk factors implicated in rosacea. Faculty dermatologists determined a rosacea score for each twin participant according to the National Rosacea Society (NRS) grading system. Data were collected at the annual Twins Days Festival in Twinsburg, Ohio, on August 4-5, 2012, and August 2-3, 2013. Analysis was conducted for several months after each meeting. A cohort of 550 twin individuals, with most from Ohio, Pennsylvania, and the northeastern United States, participated.

Main Outcomes and Measures  The NRS score and rosacea subtype were assessed using the NRS grading system and physical examination by board-certified dermatologists.

Results  Among the 275 twin pairs (550 individuals), there were 233 identical twin pairs with a mean rosacea score of 2.46 and 42 fraternal twin pairs with a mean rosacea score of 0.75. We observed a higher association of NRS scores between identical vs fraternal twins (r = 0.69 vs r = 0.46; P = .04), demonstrating a genetic contribution. Using the ACE model (proportion of variance in a trait heritable secondary to additive genetics [A] vs the proportions due to a common environment [C] and unique environment [E]), we calculated this genetic contribution to be 46%. A higher NRS score was also significantly associated with the following factors: age (r = 0.38; P < .001) and lifetime UV radiation exposure (r = 0.26; P < .001). These associations remained after use of propensity score matching to adjust for multicollinearity. Other correlated variables included body mass index (r = 0.21; P < .001), smoking (r = 0.10; P < .02), alcohol consumption (r = 0.11; P = .01), cardiovascular comorbidity (r = 0.17; P < .001), and skin cancer comorbidity (r = 0.19; P < .001).

Conclusions and Relevance  The study of twins allows us to separate genetic susceptibility and the influence of environmental factors affecting rosacea. We found that approximately half of the contribution to the NRS score could be accounted for by genetics and the other half by environment. We identified correlations between rosacea and UV radiation exposure, alcohol, smoking, skin cancer history, cardiac comorbidity, and age. These findings may help improve current management and expectations of individuals affected by rosacea.

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