<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Vitiligo is an acquired disease of unknown etiology. Several theories have been proposed to understand the pathogenesis. The role of oxidative stress has been getting more important in recent years. One of the primary antioxidant enzymes in vitiligo is the superoxide dismutase (SOD). The aim of this study is to investigate the polymorphisms of the SOD1 and SOD2 in Turkish vitiligo patients. One hundred one vitiligo patients and 99 healthy controls without family history of vitiligo were included into the study. The SOD1 35 A/C and SOD2 A16V (C/T) polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP). Vitiligo patients and control group of SOD1 35 A/C and SOD2 A16V (C/T) polymorphism allele frequencies were compared by using χ<sup>2</sup> tests. The distribution of the SOD1 35 AA and AC genotypes were similar in vitiligo patients and control group. When the patient and the control groups were compared for the SOD2 Ala9Val (C/T) polymorphism, a significant difference was determined for the distribution of the genotypes [<italic>p</italic> = 0.047, odds ratio (OR) = 2.075, 95% confidence interval (95% CI) = 1.008-4.272]. The relative risk for development of vitiligo was found as a 2-fold increase in the TT genotype. The increase of TT homozygosity in the vitiligo cases creates the problem on the transfer of the enzyme to the mitochondria and thus, the SODs antioxidant effect may decrease in vitiligo but the polymorphism was not determined in all patients, so this study needs to be substantiated by other studies containing a higher number of patients.</p></abstract>

Vitiligo is an acquired disease of unknown etiology. Several theories have been proposed to understand the pathogenesis. The role of oxidative stress has been getting more important in recent years. One of the primary antioxidant enzymes in vitiligo is the superoxide dismutase (SOD). The aim of this study is to investigate the polymorphisms of the SOD1 and SOD2 in Turkish vitiligo patients. One hundred one vitiligo patients and 99 healthy controls without family history of vitiligo were included into the study. The SOD1 35 A/C and SOD2 A16V (C/T) polymorphisms were analyzed by polymerase chain reaction-restriction fragment length polymorphim (PCR-RFLP). Vitiligo patients and control group of SOD1 35 A/C and SOD2 A16V (C/T) polymorphism allele frequencies were compared by using χ2 tests. The distribution of the SOD1 35 AA and AC genotypes were similar in vitiligo patients and control group. When the patient and the control groups were compared for the SOD2 Ala9Val (C/T) polymorphism, a significant difference was determined for the distribution of the genotypes [p = 0.047, odds ratio (OR) = 2.075, 95% confidence interval (95% CI) = 1.008-4.272]. The relative risk for development of vitiligo was found as a 2-fold increase in the TT genotype. The increase of TT homozygosity in the vitiligo cases creates the problem on the transfer of the enzyme to the mitochondria and thus, the SODs antioxidant effect may decrease in vitiligo but the polymorphism was not determined in all patients, so this study needs to be substantiated by other studies containing a higher number of patients.

<italic>Superoxide dismutase 1</italic> and <italic>2</italic> gene polymorphism in Turkish vitiligo patients

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

 and  gene polymorphism in Turkish vitiligo patients

Vitiligo is an acquired disease of unknown etiology. Several theories have been proposed to understand the pathogenesis. The role of oxidative stress has been...

	Genotype/Allele	OR	95% CI	p Value
SOD1	AA	1	–	–
	AC	0.380	0.072-2.005	0.271
	A	0.688	0.426-1.110	0.281
	C	–	–	–

SOD2	CC
	CT	1	–	–
	TT	1.750	0.889-3.446	0.105
	C	2.158	1.044-4.462	0.038 This is a statistically significant p value.
	T	0.792	0.648-0.968	0.022 This is a statistically significant p value.

	Genotype	Patient n %		Control n %		Total	p Value
SOD1	AA	96	96.05	97	97.98	193
	CA	5	4.95	2	2.02	7
	CC	0	0.00	0	0.00	0	0.277
	Total	101	100.00	99	100.00	200

35 A/C	A	197	97.52	196	98.98	393
	C	5	2.48	2	1.02	7	0.214
	Total	202	100.00	198	100.00	400

SOD2	CC	26	25.70	35	35.36	61
	CT	37	36.60	40	40.40	77	0 047
	TT	38	37.60	24	24.24	62
	Total	101	100.00	99	100.00	200

Ala9Val (C/T)	T	154	76.24	124	62.63	278
	C	48	23.76	74	37.37	122	0.460
	Total	202	100.00	198	100.00	400

Clinical Type	n		Gender				Age
	n	%	F n (%)	M n (%)	F n (%)	M n (%)
Focal	46	45.55	25	24.76	22	21.78	35.62; F: 32.16; M: 39.39
Acrofacial	25	24.75	13	12.87	11	10.89	32.15; F: 31.26; M: 33.42
Generalized	21	20.79	13	12.87	8	7.92	38.78; F: 41.34; M: 34.62
Segmental	4	3.96	2	1.98	2	1.98	27.35; F: 27.50; M: 27.20
Universal	3	2.97	3	2.97	–	–	37.56
Mixed	2	1.98	2	1.98	–	–	36.15
Total	101	100.00	58	57.43	43	43.57

Superoxide dismutase 1 and 2 gene polymorphism in Turkish vitiligo patients

Article Category: Original Article

Published Online: Dec 29, 2017

Page range: 67 - 73

DOI: https://doi.org/10.1515/bjmg-2017-0033

Keywords
SOD1, SOD2, Superoxide dismutase (SOD), Vitiligo

© 2017 Tuna A, Ozturk G, Gerceker TB, Karaca E, Onay H, Guvenc SM, Cogulu O, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Figure 2

Distributions of SOD1 35 A/C and SOD2 Ala9Val (C/T) polymorphisms in cases and controls and risk of vitiligo.

The genotype and allele distribution in the patient and control groups for the SOD1 35 A/C SOD2 Ala-9Val (C/T) polymorphism.

Demographic and clinical parameters of vitiligo patients. (Values are presented as mean.)

Superoxide dismutase 1 and 2 gene polymorphism in Turkish vitiligo patients

Article Category: Original Article

Published Online: Dec 29, 2017

Page range: 67 - 73

DOI: https://doi.org/10.1515/bjmg-2017-0033

KeywordsSOD1, SOD2, Superoxide dismutase (SOD), Vitiligo

© 2017 Tuna A, Ozturk G, Gerceker TB, Karaca E, Onay H, Guvenc SM, Cogulu O, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1

Figure 2

Distributions of SOD1 35 A/C and SOD2 Ala9Val (C/T) polymorphisms in cases and controls and risk of vitiligo.

The genotype and allele distribution in the patient and control groups for the SOD1 35 A/C SOD2 Ala-9Val (C/T) polymorphism.

Demographic and clinical parameters of vitiligo patients. (Values are presented as mean.)

Keywords
SOD1, SOD2, Superoxide dismutase (SOD), Vitiligo