Association between<i>FOXP3</i>polymorphisms and vitiligo in a Han Chinese population

Song, P.; Wang, X.-W.; Li, H.-X.; Li, K.; Liu, L.; Cui, Wei; Jian, Zhe; Yi, Xiuli; Li, Q.; Wang, G.; Li, C.-Y.; Gao, Tianwen

doi:10.1111/bjd.12377

Cited by 70 publications

(79 citation statements)

References 33 publications

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“…Similarly, the rs2232365 GG genotype was considered a risk factor for vitiligo patients in a Han Chinese population. Indeed, significantly increased vitiligo risk was associated with the rs2232365 GG [odds ratio (OR) 1.68, 95 percent confidence interval (CI) 1.17 -2.39, P = 0.004] (28).…”

Section: Discussionmentioning

confidence: 99%

Functional Genetic Variants of FOXP3 and Risk of Multiple Sclerosis

Gholami

Darvish

Ahmadi

et al. 2016

Iran Red Crescent Med J

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Background: Multiple sclerosis (MS) is an autoimmune disease that affects the central nervous system (CNS). MS is one of the most common cause of neurological impairment at a young age with a complex etiology. The forkhead/winged helix (FOXP3) gene encodes a transcription factor that plays an important role in the working and progress of regulatory T cells. Loss of the FOXP3 function impairs the suppressor activity of regulatory T (T-reg) cells, which have been reported in MS patients. Objectives: To determine whether rs2232365 and rs3761548 polymorphisms of FOXP3 are associated with the risk of MS in an Iranian population. Patients and Methods:In this case-control study, a total of 384 samples consisting of 190 MS patients and 194 unrelated healthy subjects from the Iranian population were recruited between December 2014 and September 2015. The patients were diagnosed by a neurologist based on McDonald's criteria. The control group had no history or presence of autoimmune diseases. The polymorphisms were genotyped using tetra-ARMS PCR and PCR-restriction fragment length polymorphism (RFLP) techniques. Results: The Rs2232365 G allele was significantly associated with an increased risk of MS (P = 0.0068). In contrast, the allele and genotype frequencies of rs3761548 was not significantly different between the case and control groups (P > 0.05). Conclusions:The functional variant of the FOXP3, rs2232365 A/G, may be considered a substantial risk factor for MS.

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Section: Discussionmentioning

confidence: 99%

Functional Genetic Variants of FOXP3 and Risk of Multiple Sclerosis

Gholami

Darvish

Ahmadi

et al. 2016

Iran Red Crescent Med J

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“…27 Song et al 13 suggested that it appears that defective CTLA4 expression, function or both are associated with autoimmune diseases including vitiligo. Beside, we did not find an association of genoytpe and allele frequencies for rs231775 polymorphism with vitiligo patients.…”

Section: Discussionmentioning

confidence: 99%

“…7,10,11,13 indicates that genetic factors play a role in pathogenesis of the disease. 30 Nath et al 31 reported that the relative risk of vitiligo for the first degree relatives of patients increased by at least 7-10 fold.…”

Section: Discussionmentioning

confidence: 99%

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-119C/G in MYG1 Gene and 49A/G in CTLA4 Gene Polymorphisms in Turkish Patients with Vitiligo

et al. 2017

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“…Polymorphisms in these regions could affect binding capability for transcription factors and, hence, FOXP3 expression and Treg function ). Among the polymorphisms described in regulatory regions of FOXP3, rs2232365 (A to G) has been associated with immunologic diseases such as vitiligo (Song et al 2013) and psoriasis (Song et al 2012), highlighting its importance in Treg function, but has been poorly investigated in cancers. Though chromosomal alterations are often seen in HM, they do not encompass all HM cases and are observable only after disease onset, highlighting the importance of studying inherited genetic polymorphisms, such as SNPs, which may play a role in HM susceptibility, onset and/or progression.…”

Section: Introductionmentioning

confidence: 99%