Genetic Variants Associated with Acne Vulgaris

Figures & data

Table 1 IL-1α +4845 (rs17561) Acne Presentation

Allele	Acne		Controls		OR(95%CI)	P
Study	TG+TT(%)	GG(%)	TG+TT(%)	GG(%)
Szabó et al, 2010 (Hungary and Romania)^Citation12	128(59.0)	89(41)	60(47.2)	67(52.8)	1.61(1.03;2.5)	0.03

Note: P < 0.05 is statistically significant.

Table 2 Frequencies of IL-1β-511 (rs16944) Genetic Variants in Acne Patients and Controls

	Total n	CC n(%)	CT n(%)	TT n(%)	P
Subject
Patients	90	28(31.1)	46(51.1)	16(17.8)	0.466
Controls	30	13(43.3)	13(43.3)	4(13.4)
Acne severity
Mild	26	8(30.8)	15(57.7)	3(11.5)	0.509
Moderate	27	11(40.8)	10(37.0)	6(22.2)
Severe	37	9(24.3)	21(56.8)	7(18.9)
Controls	30	13(43.3)	13(43.3)	4(13.4)
Presence of scar
Nonscarring acne (NSA)	54	18 (33.3)	26 (48.2)	10 (18.5)	0.734
Scaring acne (SA)	36	10 (27.8)	20 (55.5)	6 (16.7)
Controls	30	13 (43.3)	13 (43.3)	4 (13.4)

Note: P < 0.05 is statistically significant.

Table 3 IL-1α-889 (rs1800587) Acne Presentation

Allele	Acne		Controls		OR(95% CI)	P
Study	T(%)	C(%)	T(%)	C(%)
Sobjanek et al, 2011 (Poland)^Citation9	74(32.2)	156(67.8)	51(25.5)	149(74.5)	1.39(-)	–
Ibrahim et al, 2019 (Greece)^Citation10	89(44.5)	111(55.5)	64(32)	136(68)	1.70(1.13;2.56)	<0.01
Younis & Javed, 2015(Pakistan)^Citation11	291(34)	569(66)	154(20)	606(80)	2.01(1.60;2.52)	<0.0001
Chen et al, 2022 (China)^Citation27	87(14.2)	525(85.8)	77(12.6)	535(87.4)	1.15(0.83;1.60)	0.402

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is, T vs C. P < 0.05 is statistically significant. - means that there is no data in the original paper; numbers with percentages are in parentheses.

Table 4 IL-6 rs1800796 Acne Presentation

Allele	Acne		Controls		OR(95% CI)	P
Study	C(%)	G(%)	C(%)	G(%)
Younis & Javed, 2015 (Pakistan)^Citation11	326(38)	534(62)	177(23)	583(77)	2.01(1.61;2.45)	<0.0001
Ragab et al, 2019 (Egypt)^Citation26	42(70)	18(30)	12(30)	28(70)	5.44(2.27;13.04)	<0.001
Chen et al, 2022 (China)^Citation27	388(63.4)	224(36.6)	283(46.2)	329(53.8)	2.01(1.60;2.53)	<0.001

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is, C vs G. P < 0.01 is statistically significant.

Table 5 IL-8 rs4073 Acne Presentation

Allele	Acne		Controls		OR(95% CI)	P
Study	A(%)	T(%)	A(%)	T(%)
Sobjanek et al, 2011 (Poland)^Citation9	126(54.8)	104(45.2)	106(53.0)	94(47.0)	1.07(-)	>0.05
Hussain et al, 2015 (Pakistan)^Citation28	128(24.2)	400(75.8)	88(16.7)	440(83.3)	1.60(1.16;2.19)	0.003

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is. A vs T. P < 0.05 is statistically significant.

Table 6 TNF-α 308 G>A (rs1800629) Acne Presentation

Allele	Acne		Controls		OR (95% CI)	P
Study	A(%)	G(%)	A(%)	G(%)
Akoglu et al, 2019 (Turkey)^Citation19	32(17.8)	148(82.2)	17(28.3)	43(71.7)	0.55(0.28;1.08)	–
Baz et al, 2008 (Turkey)^Citation31	51(22.6)	175(77.4)	15(6.6)	213(93.4)	4.14(2.25;7.61)	–
Al-Shobailiet et al, 2012 (Saud Arabia)^Citation32	63(19.2)	265(80.8)	166(21.3)	614(78.7)	0.88(0.64;1.22)	–
Grech et al, 2014 (Greece)^Citation33	31(8.4)	339(91.6)	17(5.2)	313(94.8)	1.68(0.91;3.1)	–
Aisha et al, 2016 (Pakistan)^Citation35	105(37.5)	175(62.5)	90(28.1)	230(71.9)	1.53(1.07;2.19)	<0.02
Sobjanek et al, 2009 (Poland)^Citation36	20(11.9)	148(88.1)	27(18)	123(82)	0.62(0.33;1.15)	–
Szabó et al, 2011 (Hungary and Romania)^Citation37	80(17.5)	378(82.5)	32(12.6)	220(87.4)	1.46(0.94;2.27)	–

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is, A vs G. P < 0.05 is statistically significant. – means that there is no data in the original paper; numbers with percentages are in parentheses.

Table 7 TNF-α 308 G>A (rs1800629) Acne Severity

Study	Ethnicity	Cases			Total	Controls
		Mild(%)	Moderate(%)	Severe(%)
Akoglu et al, 2019 (Turkey)^Citation19	Asian	26(28.9)	27(30)	37(41.1)	90	30
Baz et al, 2008 (Turkey)^Citation31	Asian	32(28.3)	51(45.1)	30(26.6)	113	114
Al-Shobailiet et al, 2012 (Saud Arabia)^Citation32	Asian	44(26.8)	72(43.9)	48(29.3)	164	390
Aisha et al, 2016 (Pakistan)^Citation35	Asian	69(49.3)	37(26.4)	34(24.3)	140	160
Szabó et al, 2011 (Hungary and Romania)^Citation37	Caucasian	29(12.7)	156(68.1)	44(19.2)	229	126

Table 8 The Association Between the TNF rs1800629 Polymorphism and the Degree of Severity of Acne Patients

(A)
Subject	Mild n (%)			Moderate n (%)			Severe n (%)					P
	GG	GA	AA	GG	GA	AA	GG		GA	AA
Akoglu et al, 2019 (Turkey)^Citation19	19(73.1)	5(19.2)	2(7.7)	21(77.8)	2(7.4)	4(14.8)	28(75.7)		5(13.5)	4(10.8)		0.568
Baz et al, 2008 (Turkey)^Citation31	16(50.0)	15(46.8)	1(3.2)	34(66.7)	16(31.4)	1(1.9)	16(53.3)		12(40.0)	2(6.7)		0.463
Al-Shobailiet et al, 2012 (Saud Arabia)^Citation32	33(75.0)	9(20.5)	2(4.5)	48(66.7)	19(26.4)	5(6.9)	30(62.5)		15(31.3)	3(6.2)		0.77
(B)
Subject				GG			GA+AA					P
				Mild n (%)	Moderate n (%)	Severe n (%)	Mild n (%)	Moderate n (%)			Severe n (%)
Aisha et al, 2016 (Pakistan)^Citation35				46(76.7)	11(18.3)	3 (5.0)	23(28.8)	26(32.4)			31(38.8)	<0.001
Szabó et al, 2011 (Hungary and Romania)^Citation37				20(13.0)	104 (68.0)	29(19.0)	9(11.9)	52(68.4)			15(19.7)	0.101

Note: P < 0.05 is statistically significant.

Table 9 TNF-α 238 G>A (rs361525) Acne Presentation

Allele	Acne		Controls		OR(95% CI)	P
Study	A(%)	G(%)	A(%)	G(%)
Grech et al, 2014 (Greece)^Citation33	3(0.8)	367(99.2)	6(1.8)	324(98.1)	0.44(-)	–
Aisha et al, 2016 (Pakistan)^Citation35	69(24.6)	211(75.4)	54(16.9)	266(83.1)	1.61(1.06;2.44)	<0.03
Sobjanek et al, 2009 (poland)^Citation36	9(5.4)	159(94.6)	6(4.0)	144(96.0)	1.36(0.47;3.91)	–
Szabó et al, 2011 (Hungary and Romania)^Citation37	22(4.8)	436(95.2)	9(3.6)	239(96.3)	1.34(0.61;2.96)	–

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is, A vs G. P < 0.05 is statistically significant. - means that there is no data in the original paper; numbers with percentages are in parentheses.

Table 10 RETN−420 C>G (rs1862513) Acne Presentation

Allele	Acne		Controls		OR(95% CI)	P
Study	G(%)	C(%)	G(%)	C(%)
Chen et al, 2022 (China)^Citation27	413(67.5)	199(32.5)	287(46.9)	325(53.1)	2.35(1.86;2.96)	<0.001
Younis et al, 2016 (Pakistan)^Citation42	592(56)	468(44)	556(51.0)	544(49.0)	1.24(1.05;1.47)	0.013
Al-Hilali et al, 2016 (Iraq)^Citation43	85(86.7)	13(13.3)	40(80.0)	10(20.0)	1.63(-)	–
Hussain et al, 2015 (Pakistan)^Citation44	75(20.9)	285(79.1)	44(12.2)	316(87.8)	1.89(1.23;2.89)	0.002
Shehata et al, 2021 (Egypt)^Citation45	29(36.3)	51(63.7)	11(13.7)	69(86.3)	3.57(1.63;7.80)	0.001
Akcılar et al, 2022 (Turkey)^Citation46	99(52.7)	89(47.3)	100(53.2)	88(46.8)	0.98(-)	–

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is, G vs C. P < 0.05 is statistically significant. - means that there is no data in the original paper; numbers with percentages are in parentheses.

Table 11 The Association Between the RETN-420 C>G (rs1862513) Polymorphism and the Degree of Severity of Acne Patients

Subject	Mild n (%)			Moderate n (%)			Severe n (%)			P
	CC	CG	GG	CC	CG	GG	CC	CG	GG
Chen et al, 2022 (China)^Citation27	13(11.9)	51(46.8)	45(41.3)	10(8.3)	62(51.2)	49(40.5)	8(10.5)	32(42.1)	36(47.4)	0.702
Younis et al, 2016 (Pakistan)^Citation42	35(20.0)	98(56.0)	42(24.0)	48(21.0)	107(48.0)	69(31.0)	14(11.0)	69(52.0)	48(37.0)	0.027
Al-Hilali et al, 2016 (Iraq)^Citation43	1(5.3)	4(21.0)	14(73.6)	2(7.1)	3(10.7)	23(82.2)	0(0.0)	0(0.0)	2(100.0)	0.74
Shehata et al, 2021 (Egypt)^Citation45	10(76.9)	3(23.1)	0(0.0)	7(43.8)	9(56.2)	0(0.0)	0(0.0)	5(45.5)	6(54.5)	0.001

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is. A vs G. P < 0.05 is statistically significant.

Table 12 CYP17A1 rs743572 Acne Presentation

Allele	Acne		Controls		OR(95% CI)	P
Study	T(%)	C(%)	T(%)	C(%)
He et al, 2006 (China)^Citation48	190(46.1)	222(53.9)	217(54.3)	183(45.7)	0.72(0.55;0.95)	–
Chamaie-Nejad F et al, 2018 (Iran)^Citation50	330(83.3)	66(16.7)	359(92.1)	31(7.9)	0.43(-)	–

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is, T vs C. - means that there is no data in the original paper; numbers with percentages are in parentheses.

Table 13 MMP-2 rs243865 Acne Presentation

Allele	Acne		Controls		OR(95% CI)	P
Study	C(%)	T(%)	C(%)	T(%)
Yaykasli et al, 2013 (Turkey)^Citation63	65(75.6)	21(24.4)	60(71.4)	24(28.6)	1.24(-)	-
Gao et al, 2019 (China)^Citation64	418(83.3)	84(16.7)	228(94.2)	14(5.8)	0.31(0.17;0.55)	-
Gupta et al, 2020 (India)^Citation65	883(86.2)	141(13.8)	273(84.8)	49(15.2)	1.12(-)	–

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is, C vs T. - means that there is no data in the original paper; numbers with percentages are in parentheses.

Table 14 TIMP-2 rs8179090 Acne Presentation

Allele	Acne		Controls		OR(95% CI)	P
Study	C(%)	G(%)	C(%)	G(%)
Yaykasli et al, 2013 (Turkey)^Citation63	17(19.8)	69(80.2)	18(21.4)	66(78.6)	0.90(0.43;1.90)	–
Gao et al, 2019 (China)^Citation64	92(18.3)	410(81.7)	35(14.5)	207(85.5)	1.33(0.87;2.03)	0.19
Gupta et al, 2020 (India)^Citation65	93(9.1)	931(90.9)	30(9.3)	292(90.7)	0.97(-)	–

Notes: The analysis was performed using the allele model (minor allele vs major allele), that is, C vs G. - means that there is no data in the original paper; numbers with percentages are in parentheses. P < 0.05 is statistically significant.

Szabó K, Tax G, Kis K, et al. Interleukin-1A +4845(G> T) polymorphism is a factor predisposing to acne vulgaris. Tissue Antigens. 2010;76:411–415. doi:10.1111/j.1399-0039.2010.01530.x

 PubMedGoogle Scholar

Sobjanek M, Zablotna M, Glen J, et al. Polymorphism in interleukin 1A but not in interleukin 8 gene predisposes to acne vulgaris in Polish population. J Eur Acad Dermatol Venereol. 2013;27(2):259–260. doi:10.1111/j.1468-3083.2011.04422.x

 PubMed Web of Science ®Google Scholar

Ibrahim AA, Salem RM, El-Shimi OS, et al. IL 1A (−889) gene polymorphism is associated with the effect of diet as a risk factor in Acne Vulgaris. J Cosmet Dermatol. 2019;18:333–336. doi:10.1111/jocd.12516

 PubMed Web of Science ®Google Scholar

Younis S, Javed Q. The interleukin-6 and interleukin-1A gene promoter polymorphism is associated with the pathogenesis of acne vulgaris. Arch Dermatol Res. 2015;307(4):365–370. doi:10.1007/s00403-014-1519-x

 PubMed Web of Science ®Google Scholar

Chen X, Min S, Chen C, et al. Influence of RETN, IL-1, and IL-6 gene polymorphisms on the risk of acne vulgaris in the Chinese population. J Cosmet Dermatol. 2022;21:4965–4973. doi:10.1111/jocd.14911

 PubMed Web of Science ®Google Scholar

Ragab M, Hassan EM, Elneily D, et al. Association of interleukin-6 gene promoter polymorphism with acne vulgaris and its severity. Clin Exp Dermatol. 2019;44(6):637–642. doi:10.1111/ced.13864

 PubMed Web of Science ®Google Scholar

Hussain S, Iqbal T, Sadiq I, et al. Polymorphism in the IL-8 gene promoter and the risk of acne vulgaris in a Pakistani population. Iran J Allergy Asthma Immunol. 2015;14:443–449.

 PubMed Web of Science ®Google Scholar

Akoglu G, Tan C, Ayvaz DC, et al. Tumor necrosis factor α-308 G/A and interleukin 1 β-511 C/T gene polymorphisms in patients with scarring acne. J Cosmet Dermatol. 2019;18(1):395–400. doi:10.1111/jocd.12558

 PubMed Web of Science ®Google Scholar

Baz K, Emin Erdal M, Yazıcı AC, et al. Association between tumor necrosis factor-alpha gene promoter polymorphism at position-308 and acne in Turkish patients. Arch Dermatol Res. 2008;300:371–376. doi:10.1007/s00403-008-0871-0

 PubMed Web of Science ®Google Scholar

Al-Shobaili HA, Salem TA, Alzolibani AA, et al. Tumor necrosis factor-α- 308 G/A and interleukin 10-1082 A/G gene polymorphisms in patients with acne vulgaris. J Dermatol Sci. 2012;68(1):52–55. doi:10.1016/j.jdermsci.2012.07.001

 PubMed Web of Science ®Google Scholar

Grech I, Giatrakos S, Damoraki G, et al. Impact of TNF haplotypes in the physical course of acne vulgaris. Dermatology. 2014;228:152–157. doi:10.1159/000356388

 PubMed Web of Science ®Google Scholar

Aisha NM, Haroon J, Hussain S, et al. Association between tumour necrosis-α gene polymorphisms and acne vulgaris in a Pakistani population. Clin Exp Dermatol. 2016;41(3):297–301. doi:10.1111/ced.12757

 PubMed Web of Science ®Google Scholar

Sobjanek M, Zabłotna M, Nedoszytko B, et al. Lack of association between the promoter polymorphisms at positions-238 and-308 of the tumour necrosis factor alpha gene and acne vulgaris in Polish patients. J Eur Acad Dermatol Venereol. 2009;23(3):331–332. doi:10.1111/j.1468-3083.2008.02858.x

 PubMed Web of Science ®Google Scholar

Szabó K, Tax G, Teodorescu-Brinzeu D, et al. TNFα gene polymorphisms in the pathogenesis of acne vulgaris. Arch Dermatol Res. 2011;303(1):19–27. doi:10.1007/s00403-010-1050-7

 PubMed Web of Science ®Google Scholar

Younis S, Blumenberg M, Javed Q. Resistin gene polymorphisms are associated with acne and serum lipid levels, providing a potential nexus between lipid metabolism and inflammation. Arch Dermatol Res. 2016;308:229–237. doi:10.1007/s00403-016-1626-y

 PubMed Web of Science ®Google Scholar

Al-Hilali HA, AL-Anssari MJ. Resistin (RETN) Gene rs1862513 polymorphisms and Acne vulgaris patients. Int J Curr Microbiol App Sci. 2016;5:415–422. doi:10.20546/ijcmas.2016.512.045

 Google Scholar

Hussain S, Faraz A, Iqbal T. The RETN gene rs1862513 polymorphism as a novel predisposing marker for familial Acne vulgaris in a Pakistani population. Iran J Basic Med Sci. 2015;18:526–528.

 PubMed Web of Science ®Google Scholar

Shehata WA, Maraee A, Wahab TAA, et al. Serum resistin levels and resistin gene polymorphism in patients with acne vulgaris: does it correlate with disease severity? Int J Dermatol. 2021;60:1270–1277. doi:10.1111/ijd.15727

 PubMed Web of Science ®Google Scholar

Akcılar R, Dizen Namdar N, Arslan Utku S. Association between resistin gene (− 420 C> G) polymorphism and acne vulgaris. J Cosmet Dermatol. 2022;21:1651–1655. doi:10.1111/jocd.14264

 PubMed Web of Science ®Google Scholar

He L, Yang Z, Yu H, et al. The relationship between CYP17 −34T/C polymorphism and acne in Chinese subjects revealed by sequencing. Dermatology. 2006;212:338–342. doi:10.1159/000092284

 PubMed Web of Science ®Google Scholar

Chamaie-Nejad F, Saeidi S, Najafi F, et al. Association of the CYP17 MSP AI (T-34C) and CYP19 codon 39 (Trp/Arg) polymorphisms with susceptibility to acne vulgaris. Clin Exp Dermatol. 2018;43:183–186. doi:10.1111/ced.13321

 PubMed Web of Science ®Google Scholar

Yaykasli KO, Turan H, Kaya E, et al. Polymorphisms in the promoters of MMP-2 and TIMP-2 genes in patients with acne vulgaris. Int J Clin Exp Med. 2013;6:967–972.

 PubMed Web of Science ®Google Scholar

Gao R, Yu H, Zhao Q, et al. Role of MMP-2 (−1306 C/T) and TIMP-2 (−418G/C) polymorphism in Chinese Han patients with Acne Vulgaris. Biomed Res Int. 2019;2019:2364581. doi:10.1155/2019/2364581

 PubMed Web of Science ®Google Scholar

Gupta N, Bishnoi A, Mathew D, et al. Hypertrophic post-acne scarring is associated with a single nucleotide polymorphism (rs243865) in the matrix metalloproteinase-2 gene. J Dtsch Dermatol Ges. 2020;18:1426–1435.

 Web of Science ®Google Scholar