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非洲女性黄褐斑患者中SLC45A2、TYR、HERC2和SLC24A基因多态性的关联:一项初步研究。

Association of Genetic Polymorphisms in SLC45A2, TYR, HERC2, and SLC24A in African Women with Melasma: A Pilot Study.

作者信息

Mpofana Nomakhosi, Mlambo Zinhle Pretty, Makgobole Mokgadi Ursula, Dlova Ncoza Cordelia, Naicker Thajasvarie

机构信息

Dermatology Department, Nelson R. Mandela School of Medicine, University of KwaZulu-Natal, Durban 4000, South Africa.

Department of Somatology, Durban University of Technology, Durban 4000, South Africa.

出版信息

Int J Mol Sci. 2025 Jan 29;26(3):1158. doi: 10.3390/ijms26031158.

Abstract

Melasma is a chronic skin disorder characterized by hyperpigmentation, predominantly affecting women with darker skin types, including those of African descent. This study investigates the association between genetic variants in , , , and genes and the severity of melasma in women of reproductive age. Forty participants were divided into two groups: twenty with facial melasma and twenty without. Deoxyribonucleic acid (DNA) was extracted from blood samples and genotyped using TaqMan assays to identify allele frequencies and genotype distributions. Significant associations were observed for the gene (rs1042602), gene (rs1129038), and gene (rs1426654) polymorphisms, highlighting their potential roles in melasma susceptibility. For example, the rs1042602 Single Nucleotide Polymorphisms (SNP) in the gene showed a strong association with melasma, with the AA genotype conferring a markedly increased risk. Similarly, the rs1129038 SNP in the gene and the rs1426654 SNP in the gene revealed significant genetic variations between groups in women of African descent. These findings underscore the influence of genetic polymorphisms on melasma's pathogenesis, emphasizing the need for personalized approaches to its treatment, particularly for women with darker skin types.

摘要

黄褐斑是一种以色素沉着为特征的慢性皮肤疾病,主要影响深色皮肤类型的女性,包括非洲裔女性。本研究调查了、、和基因中的基因变异与育龄期女性黄褐斑严重程度之间的关联。40名参与者被分为两组:20名面部有黄褐斑,20名没有。从血液样本中提取脱氧核糖核酸(DNA),并使用TaqMan分析进行基因分型,以确定等位基因频率和基因型分布。观察到基因(rs1042602)、基因(rs1129038)和基因(rs1426654)多态性存在显著关联,突出了它们在黄褐斑易感性中的潜在作用。例如,基因中的rs1042602单核苷酸多态性(SNP)与黄褐斑有很强的关联,AA基因型使风险显著增加。同样,基因中的rs1129038 SNP和基因中的rs1426654 SNP在非洲裔女性群体之间显示出显著的基因差异。这些发现强调了基因多态性对黄褐斑发病机制的影响,强调了对其治疗采取个性化方法的必要性,特别是对于深色皮肤类型的女性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e728/11818098/40fb8251cdc8/ijms-26-01158-g001.jpg

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