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A random-effect meta-analysis using the allele model (minor allele vs. major allele) was also conducted to provide an overall estimation of risk effects of frequently reported gene variants. This included a subset data of 982 acne cases and 846 controls extracted from our existing GWAS database on various allergic and skin diseases among Singapore Chinese.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Systematic review of 51 articles covering Asians and Caucasians found 60 genes\/loci and their 100 variants implicated in acne; majority of them were in the intron, coding region\/missense, and promoter regions. The commonly studied candidate genes\/gene families include tumor necrosis factor (<jats:italic>TNF<\/jats:italic>), and the interleukin (<jats:italic>IL<\/jats:italic>) and cytochrome P450 (<jats:italic>CYP<\/jats:italic>) gene families. Our meta-analysis showed that most of the analyzed gene variants exhibited insignificant pooled odds ratio (pOR) and significant heterogeneity between studies. Nevertheless, we found that<jats:italic>TNF<\/jats:italic>rs1800629 A allele carriers and<jats:italic>CYP17A1<\/jats:italic>rs743572 T allele carriers had significantly reduced mild acne risk [pOR: 0.60; 95% Confidence Interval (CI): 0.33\u20130.86] and severe acne risk (pOR: 0.59; 95% CI: 0.40\u20130.79), respectively, across populations. Overall,<jats:italic>FST<\/jats:italic>(follistatin) rs629725 A allele poses a significantly modest increased risk for acne presentation (pOR: 1.19, 95% CI: 1.14, 1.23), but neither<jats:italic>TIMP2<\/jats:italic>(TIMP metallopeptidase inhibitor 2) rs8179090 nor<jats:italic>CYP1A1<\/jats:italic>rs4646903 (pOR: 0.96, 95% CI: 0.80\u20131.12; pOR: 0.95, 95% CI: 0.83, 1.08), respectively. We discovered 15 novel SNPs in the 3\u2032 UTR region of the Toll-like Receptor 4 gene (<jats:italic>TLR4<\/jats:italic>) associated with acne presentation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This systematic review and meta-analysis suggest that genes influencing inflammatory responses, specifically<jats:italic>TNF<\/jats:italic>, and genes influencing the function and activity of sebaceous glands, specifically<jats:italic>CYP17A1<\/jats:italic>and<jats:italic>FST<\/jats:italic>, have potential risk variants for acne presentation and severity across populations. Understanding the genetic susceptibility factors and biological pathways involved in the pathogenesis of acne will help us to gain insights into developing effective acne treatments.<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12920-021-00953-8","type":"journal-article","created":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T19:04:18Z","timestamp":1618340658000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":41,"title":["Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis"],"prefix":"10.1186","volume":"14","author":[{"given":"Anna Hwee Sing","family":"Heng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yee-How","family":"Say","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang Yie","family":"Sio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu Ting","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fook Tim","family":"Chew","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,4,13]]},"reference":[{"issue":"9813","key":"953_CR1","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1016\/S0140-6736(11)60321-8","volume":"379","author":"HC Williams","year":"2012","unstructured":"Williams HC, Dellavalle RP, Garner S. 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