A lack of association between genetic polymorphisms in beta-defensins and susceptibility of psoriasis in Taiwanese: A case-control study

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• 作者：Yu-Jui Hsieh¹ ; ^a ; Ya-Ching Chang² ; ^a ; ^{ycchang@adm.cgmh.org.tw" class="auth_mail" title="E-mail the corresponding author} ; Yu-Huei Huang² ; Wen-Hung Chung² ; Hsin-Yi Tsai³ ; Lung-An Hsu³
• 关键词：copy number variations ; human β-defensin ; polymorphisms ; psoriasis
• 刊名：Dermatologica Sinica
• 出版年：2016
• 出版时间：June 2016
• 年：2016
• 卷：34
• 期：2
• 页码：78-82
• 全文大小：292 K

文摘

Genetic predisposition of the inflammatory-host response may affect the development of psoriasis. Previous studies have shown that copy number variations (CNVs) of β-defensin genes (DEFB) are associated with the susceptibility of psoriasis in Caucasian populations.

Objectives

This study aimed to assess the role of the CNVs of the DEFB4 gene and functional variants in the DEFB1 gene in Taiwanese patients with psoriasis.

Methods

In total, 196 patients with psoriasis and 196 control individuals were analyzed for the presence of the DEFB4 CNVs using the paralogue ratio test, and also for the DEFB1 polymorphisms rs11362, rs1800972, and rs1799946, using a polymerase chain reaction.

Results

None of the polymorphisms were found to be associated with psoriasis. The distribution of DEFB4 genomic CNVs did not significantly differ between the control group and psoriasis group. The frequencies of patients who carried a greater than the median (≥ 5) number of copies did not significantly differ in patients with psoriasis and controls. The multivariate analysis similarly revealed that the DEFB4 CNVs were not associated with psoriasis (odds ratio = 1.03, 95% confidence interval = 0.89–1.19, p = 0.720). No significant difference was detected in the genotype and allele distribution for any of the individual DEFB1 polymorphisms between the cases and the controls. Finally, the overall haplotype frequency profiles derived from the three polymorphisms did not significantly differ between the cases and the controls.

Conclusion

Our results do not suggest that these genetic variants of the β-defensin genes contribute to the genetic background of psoriasis in Taiwanese patients.