沙特三级医疗中心维生素D受体基因变异与白癜风的相关性：一项病例对照研究

IF 1.5 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Annals of Saudi Medicine Pub Date : 2022-03-01 DOI:10.5144/0256-4947.2022.96

G. B. Saif, I. Khan

{"title":"沙特三级医疗中心维生素D受体基因变异与白癜风的相关性：一项病例对照研究","authors":"G. B. Saif, I. Khan","doi":"10.5144/0256-4947.2022.96","DOIUrl":null,"url":null,"abstract":"BACKGROUND: Vitiligo is a common cutaneous disorder of the skin and hair caused by a systemic depigmentation disorder that affects 1% of the population or less due to its onset in early adulthood. Meta-analyses have documented a linkage between vitiligo and the vitamin D receptor (VDR) gene. OBJECTIVE: Investigate the relationship between the ApaI, BsmI, FokI and TaqI genetic variants in the VDR gene with vitiligo in a Saudi population. DESIGN: Case-control. SETTING: Single tertiary care center. PATIENT AND METHODS: The case-control study was carried out between January 2015-December 2015 in Saudi vitiligo patients and healthy controls. VDR genetic variants or polymorphisms (ApaI, BsmI, FokI and TaqI) were genotyped by polymerase chain reaction-restriction fragment length analysis followed by 3% agarose gel electrophoresis. Applicable statistical methods were used to assess relationships between vitiligo cases and controls. MAIN OUTCOM MEASURE: Effect of genotype distribution among four single nucleotide polymorphisms. SAMPLE SIZE: 152 vitiligo (median [IQR] 23 [19] years) patients and 159 healthy controls (45 [28.5] years). RESULTS: We found an association of vitiligo with ApaI and BsmI polymorphisms (P<.05). However, a decreased risk was noted in vitiligo patients with FokI and TaqI polymorphisms and in the diplotype and haplotype analysis within males and females. A positive association with vitiligo was observed in ACAC and AC (adjusted by gender) haplotypes (P<.05). The strongest linkage disequilibrium was observed between rs79785232 (ApaI) and rs731236 (TaqI) polymorphisms (r2=.83), followed by rs2228570 (FokI) and rs1544410 (BsmI) polymorphisms (r2=.53). CONCLUSIONS: Our results confirm an association of vitiligo with ApaI and BsmI polymorphisms and fail to show an association in TaqI and FokI polymorphism with vitiligo. Additional studies need to be carried out in different Arab populations to determine whether the polymorphisms are present. LIMITATIONS: Controls not age matched, small sample size, lack of biochemical parameters. CONFLICT OF INTEREST: None.","PeriodicalId":8016,"journal":{"name":"Annals of Saudi Medicine","volume":"42 1","pages":"96 - 106"},"PeriodicalIF":1.5000,"publicationDate":"2022-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"12","resultStr":"{\"title\":\"Association of genetic variants of the vitamin D receptor gene with vitiligo in a tertiary care center in a Saudi population: a case-control study\",\"authors\":\"G. B. Saif, I. Khan\",\"doi\":\"10.5144/0256-4947.2022.96\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"BACKGROUND: Vitiligo is a common cutaneous disorder of the skin and hair caused by a systemic depigmentation disorder that affects 1% of the population or less due to its onset in early adulthood. Meta-analyses have documented a linkage between vitiligo and the vitamin D receptor (VDR) gene. OBJECTIVE: Investigate the relationship between the ApaI, BsmI, FokI and TaqI genetic variants in the VDR gene with vitiligo in a Saudi population. DESIGN: Case-control. SETTING: Single tertiary care center. PATIENT AND METHODS: The case-control study was carried out between January 2015-December 2015 in Saudi vitiligo patients and healthy controls. VDR genetic variants or polymorphisms (ApaI, BsmI, FokI and TaqI) were genotyped by polymerase chain reaction-restriction fragment length analysis followed by 3% agarose gel electrophoresis. Applicable statistical methods were used to assess relationships between vitiligo cases and controls. MAIN OUTCOM MEASURE: Effect of genotype distribution among four single nucleotide polymorphisms. SAMPLE SIZE: 152 vitiligo (median [IQR] 23 [19] years) patients and 159 healthy controls (45 [28.5] years). RESULTS: We found an association of vitiligo with ApaI and BsmI polymorphisms (P<.05). However, a decreased risk was noted in vitiligo patients with FokI and TaqI polymorphisms and in the diplotype and haplotype analysis within males and females. A positive association with vitiligo was observed in ACAC and AC (adjusted by gender) haplotypes (P<.05). The strongest linkage disequilibrium was observed between rs79785232 (ApaI) and rs731236 (TaqI) polymorphisms (r2=.83), followed by rs2228570 (FokI) and rs1544410 (BsmI) polymorphisms (r2=.53). CONCLUSIONS: Our results confirm an association of vitiligo with ApaI and BsmI polymorphisms and fail to show an association in TaqI and FokI polymorphism with vitiligo. Additional studies need to be carried out in different Arab populations to determine whether the polymorphisms are present. LIMITATIONS: Controls not age matched, small sample size, lack of biochemical parameters. CONFLICT OF INTEREST: None.\",\"PeriodicalId\":8016,\"journal\":{\"name\":\"Annals of Saudi Medicine\",\"volume\":\"42 1\",\"pages\":\"96 - 106\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2022-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"12\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Saudi Medicine\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.5144/0256-4947.2022.96\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Saudi Medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.5144/0256-4947.2022.96","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}

引用次数: 12

摘要

背景：白癜风是一种常见的皮肤和头发疾病，由系统性色素脱失症引起，由于发病于成年早期，影响1%或更少的人群。荟萃分析证明了白癜风与维生素D受体（VDR）基因之间的联系。目的：研究沙特人群中VDR基因ApaI、BsmI、FokI和TaqI基因变异与白癜风的关系。设计：病例对照。单位：单一的三级护理中心。患者和方法：该病例对照研究于2015年1月至2015年12月在沙特白癜风患者和健康对照中进行。VDR基因变异或多态性（ApaI、BsmI、FokI和TaqI）通过聚合酶链式反应限制性片段长度分析和3%琼脂糖凝胶电泳进行基因分型。使用适用的统计方法来评估白癜风病例和对照组之间的关系。主要输出测量：四种单核苷酸多态性中基因型分布的影响。样本量：152名白癜风患者（中位[IQR]23[19]岁）和159名健康对照（45[28.5]岁）。结果：我们发现白癜风与ApaI和BsmI多态性有关（P＜0.05）。然而，在FokI和TaqI多态性的白癜风患者中，以及在男性和女性的双型和单倍型分析中，风险降低。ACAC和AC（按性别调整）单倍型与白癜风呈正相关（P＜0.05）。rs79785232（ApaI）和rs731236（TaqI）多态性之间存在最强的连锁不平衡（r2＝.83），其次是rs2228570（FokI）和rs1544410（BsmI）多态性（r2=.53）。结论：我们的结果证实了白癜风与ApaI和BsmI多态性的相关性，而没有显示TaqI和FokI多态性与白癜风的相关性。需要在不同的阿拉伯人群中进行额外的研究，以确定是否存在多态性。局限性：对照组年龄不匹配，样本量小，缺乏生化参数。利益冲突：无。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

Association of genetic variants of the vitamin D receptor gene with vitiligo in a tertiary care center in a Saudi population: a case-control study

BACKGROUND: Vitiligo is a common cutaneous disorder of the skin and hair caused by a systemic depigmentation disorder that affects 1% of the population or less due to its onset in early adulthood. Meta-analyses have documented a linkage between vitiligo and the vitamin D receptor (VDR) gene. OBJECTIVE: Investigate the relationship between the ApaI, BsmI, FokI and TaqI genetic variants in the VDR gene with vitiligo in a Saudi population. DESIGN: Case-control. SETTING: Single tertiary care center. PATIENT AND METHODS: The case-control study was carried out between January 2015-December 2015 in Saudi vitiligo patients and healthy controls. VDR genetic variants or polymorphisms (ApaI, BsmI, FokI and TaqI) were genotyped by polymerase chain reaction-restriction fragment length analysis followed by 3% agarose gel electrophoresis. Applicable statistical methods were used to assess relationships between vitiligo cases and controls. MAIN OUTCOM MEASURE: Effect of genotype distribution among four single nucleotide polymorphisms. SAMPLE SIZE: 152 vitiligo (median [IQR] 23 [19] years) patients and 159 healthy controls (45 [28.5] years). RESULTS: We found an association of vitiligo with ApaI and BsmI polymorphisms (P<.05). However, a decreased risk was noted in vitiligo patients with FokI and TaqI polymorphisms and in the diplotype and haplotype analysis within males and females. A positive association with vitiligo was observed in ACAC and AC (adjusted by gender) haplotypes (P<.05). The strongest linkage disequilibrium was observed between rs79785232 (ApaI) and rs731236 (TaqI) polymorphisms (r2=.83), followed by rs2228570 (FokI) and rs1544410 (BsmI) polymorphisms (r2=.53). CONCLUSIONS: Our results confirm an association of vitiligo with ApaI and BsmI polymorphisms and fail to show an association in TaqI and FokI polymorphism with vitiligo. Additional studies need to be carried out in different Arab populations to determine whether the polymorphisms are present. LIMITATIONS: Controls not age matched, small sample size, lack of biochemical parameters. CONFLICT OF INTEREST: None.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Annals of Saudi Medicine 医学-医学：内科

CiteScore

2.80

自引率

0.00%

发文量

审稿时长

4-8 weeks

期刊介绍： The Annals of Saudi Medicine (ASM) is published bimonthly by King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. We publish scientific reports of clinical interest in English. All submissions are subject to peer review by the editorial board and by reviewers in appropriate specialties. The journal will consider for publication manuscripts from any part of the world, but particularly reports that would be of interest to readers in the Middle East or other parts of Asia and Africa. Please go to the Author Resource Center for additional information.