Variants in <scp>SELL</scp>,<scp>MRPS</scp>36P2,<scp>TP</scp>63,<scp>DDB</scp>2,<scp>CACNA</scp>1H,<scp>ADAM</scp>19,<scp>GNAI</scp>1,<scp>CDH</scp>13 and <scp>GABRG</scp>2 interact to confer risk of acne in Chinese population

Wang, Hongyan; Guo, Meihua; Shen, Songke; He, Li; Zhang, Xuejun; Zuo, Xianbo; Yang, Sen

doi:10.1111/1346-8138.12754

Cited by 9 publications

(9 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A GWAS study and metaanalysis in a Han Chinese cohort (He et al, 2014) reported suggestive association at two loci (1q24.2 and 11p11) located within the regions of DDB2 and SELL, genes that are implicated in the process of androgen metabolism, inflammation, and scarification. A follow-up of this study (Wang et al, 2015) confirmed the potential involvement of these loci in the pathogenesis of acne. Another GWAS study in European Americans (Zhang et al, 2014) did not detect SNPs with genome-wide association.…”

supporting

confidence: 78%

Heritability and GWAS Analyses of Acne in Australian Adolescent Twins

et al. 2017

View full text Add to dashboard Cite

Acne vulgaris is a skin disease with a multifactorial and complex pathology. While several twin studies have estimated that acne has a heritability of up to 80%, the genomic elements responsible for the origin and pathology of acne are still undiscovered. Here we performed a twin-based structural equation model, using available data on acne severity for an Australian sample of 4,491 twins and their siblings aged from 10 to 24. This study extends by a factor of 3 an earlier analysis of the genetic factors of acne. Acne severity was rated by nurses on a 4-point scale (1 = absent to 4 = severe) on up to three body sites (face, back, chest) and on up to three occasions (age 12, 14, and 16). The phenotype that we analyzed was the most severe rating at any site or age. The polychoric correlation for monozygotic twins was higher (r MZ = 0.86, 95% CI [0.81, 0.90]) than for dizygotic twins (r DZ = 0.42, 95% CI [0.35, 0.47]). A model that includes additive genetic effects and unique environmental effects was the most parsimonious model to explain the genetic variance of acne severity, and the estimated heritability was 0.85 (95% CI [0.82, 0.87]). We then conducted a genome-wide analysis including an additional 271 siblings - for a total of 4,762 individuals. A genome-wide association study (GWAS) scan did not detect loci associated with the severity of acne at the threshold of 5E-08 but suggestive association was found for three SNPs: rs10515088 locus 5q13.1 (p = 3.9E-07), rs12738078 locus 1p35.5 (p = 6.7E-07), and rs117943429 locus 18q21.2 (p = 9.1E-07). The 5q13.1 locus is close to PIK3R1, a gene that has a potential regulatory effect on sebocyte differentiation.

show abstract

supporting

confidence: 78%

Heritability and GWAS Analyses of Acne in Australian Adolescent Twins

et al. 2017

View full text Add to dashboard Cite

show abstract

“…30 It is identified as a novel androgen receptor-interacting protein, mediating contact with AR and the CUL4A-DDB1 complex for AR ubiquitination or degradation. 31 Wang et al 32 performed an in-depth analysis of the GWAS mentioned above and found multiple interactions among 56 SNPs in nine genes, including SELL 9 MRPS36P2 (P adjusted = 4.15 9 10 À10 ), TP63 9 DDB2 (P adjusted = 7.62 9 10 À08 ), DDB2 9 CACNA1H (P adjusted = 1.89 9 10 À07 ) ( Tables 2 and 3). This was interpreted as evidence for different but potentially important roles of these loci in the pathogenesis of acne.…”

Section: Genes and Loci Involved In Acnementioning

confidence: 99%

“…Wang et al . performed an in‐depth analysis of the GWAS mentioned above and found multiple interactions among 56 SNPs in nine genes, including SELL × MRPS36P2 ( P adjusted = 4.15 × 10 −10 ), TP63 × DDB2 ( P adjusted = 7.62 × 10 −08 ), DDB2 × CACNA1H ( P adjusted = 1.89 × 10 −07 ) (Tables and ).…”

Section: Genes and Loci Involved In Acnementioning

confidence: 99%

See 1 more Smart Citation

Genetic architecture of acne vulgaris

Lichtenberger

Simpson

Smith

et al. 2017

Acad Dermatol Venereol

View full text Add to dashboard Cite

Acne vulgaris is a ubiquitary skin disease characterized by chronic inflammation of the pilosebaceous unit resulting from bacterial colonization of hair follicles by Propionibacterium acnes, androgen-induced increased sebum production, altered keratinization and inflammation. Here, we review our current understanding of the genetic architecture of this intriguing disease. We analysed genomewide association studies (GWAS) and candidate genes studies for acne vulgaris. Moreover, we included GWAS studies for the associated disease polycystic ovary syndrome (PCOS). Overall, the available data revealed sixteen genetic loci flagged by single nucleotide polymorphisms (SNPs), none of which has been confirmed yet by independent studies. Moreover, a GWAS for PCOS identified 21 susceptible loci. The genetic architecture is complex which has been revealed by GWAS. Further and larger studies in different populations are required to confirm or disprove results from candidate gene studies as well to identify signals that may overlap between different populations. Finally, studies on rare genetic variants in acne and associated diseases like PCOS may deepen our understanding of its pathogenesis.

show abstract

“…Acne patients have increased sebum secretion, and both acne and activity of the sebaceous glands are under significant genetic control (Bataille et al, 2002;Mourelatos et al, 2007). Recent genome-wide association studies have identified several variants linked to acne susceptibility (He et al, 2014;Navarini et al, 2014;Wang et al, 2015;Zhang et al, 2014).…”

mentioning

confidence: 99%