Promoter region polymorphism of macrophage migration inhibitory factor is strong risk factor for young onset of extensive alopecia areata

Shimizu, Tadamichi; Hizawa, Nobuyuki; Honda, Ayumi; Zhao, Yunan; Abe, Riichiro; Watanabe, Hirokazu; Nishihira, Jun; Nishimura, Masaharu; Shimizu, Hiroshi

doi:10.1038/sj.gene.6364191

Cited by 34 publications

(33 citation statements)

References 31 publications

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“…These include polymorphisms in IL-1 receptor antagonists (43), macrophage migration inhibitory factor (MIF) (44), and Notch4, which maps to the MHC class II region (45). These polymorphisms are associated with early onset of more severe disease.…”

Section: Genetics Of Aamentioning

confidence: 99%

Lymphocytes, neuropeptides, and genes involved in alopecia areata

Gilhar¹,

Paus²,

Kalish³

2007

J. Clin. Invest.

268

278

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Many lessons in autoimmunity -particularly relating to the role of immune privilege and the interplay between genetics and neuroimmunology -can be learned from the study of alopecia areata, the most common cause of inflammation-induced hair loss. Alopecia areata is now understood to represent an organ-restricted, T cell-mediated autoimmune disease of hair follicles. Disease induction is associated with collapse of hair follicle immune privilege in both humans and in animal models. Here, the role of HLA associations, other immunogenetic factors, and neuroendocrine parameters in alopecia areata pathogenesis are reviewed. This instructive and clinically significant model disease deserves more widespread interest in the immunology community.Nonstandard abbreviations used: AA, alopecia areata; AIRE, autoimmune regulator; APECED, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy; IP-10, IFN-g-inducible protein 10; MIC, MHC class I chain-related; MIF, macrophage migration inhibitory factor; α-MSH, α-melanocyte-stimulating hormone; NALP1, NACHT leucine-rich-repeat protein 1; NGF, nerve growth factor.

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Section: Genetics Of Aamentioning

confidence: 99%

Lymphocytes, neuropeptides, and genes involved in alopecia areata

Gilhar¹,

Paus²,

Kalish³

2007

J. Clin. Invest.

268

278

View full text Add to dashboard Cite

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“…36 In other studies, phenotypes associated with À173G/C were also associated with haplotype C/7-CATT. 13,37 If the effects of haplotype C/7-CATT on MIF promoter activity were universal, our results would be incongruent. However, the effects of the haplotype are cell type-specific, 13,36,37 and in obesity-related cells, G/5-CATT and G/6-CATT may affect promoter activity more potently than C/7-CATT.…”

Section: Discussionmentioning

confidence: 79%

Promoter polymorphism in the macrophage migration inhibitory factor gene is associated with obesity

et al. 2005

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Objective: To explore the association of promoter polymorphisms of macrophage migration inhibitory factor (MIF) gene with obesity. Subjects: In total, 213 nondiabetic Japanese subjects. They were divided into three groups according to World Health Organization definitions: lean (body mass index (BMI) o25 kg/m 2 ), overweight (25pBMIo30 kg/m 2 ) and obese (BMIX30 kg/m 2 ). Methods: We examined two polymorphic loci in the MIF gene in the subjects: a single-nucleotide polymorphism at position À173 (G/C) and a CATT-tetranucleotide repeat polymorphism at position À794, which both can affect promoter activity in different cells. Results: We detected four alleles: 5-, 6-, 7-and 8-CATT at position À794. Genotypes without the 5-CATT allele (X/X, X refers to 6-, 7-or 8-CATT alleles) were more common in obese subjects than in lean or overweight groups (P ¼ 0.013). The X-CATT allele was more frequent in obese subjects than in lean or overweight subjects (P ¼ 0.030). In contrast, À173G/C was not associated with obesity. Among the haplotypes of the two promoter polymorphisms, G/5-CATT ((À173G/C)/(À794[CATT] 5-8 )) was associated with a decreased risk of obesity (P ¼ 0.025) and G/6-CATT with an increased risk of overweight (P ¼ 0.028). Conclusion: Promoter polymorphism in the MIF gene is linked with obesity.

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“…However, in A549 lung epithelial cells, the −173 G/7-CATT 5-CATT and C/6-CATT promoters exhibited lower activities than the −173 G/5-CAAT or 6-CAAT promoter [12]. The MIF C/7-CATT haplotype is also associated with asthma [13], juvenile idiopathic arthritis [9], rheumatoid arthritis [11], systemic lupus erythematosus [29], and skin diseases, such as psoriasis [14] and extensive alopecia areata [30]. …”

Section: Discussionmentioning

confidence: 99%

Association of Macrophage Migration Inhibitory Factor Polymorphisms with Total Plasma IgE Levels in Patients with Atopic Dermatitis in Korea

et al. 2016

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The macrophage migration inhibitory factor (MIF) gene is located on human chromosome 22q11.2 and is linked to atopic phenotypes. Plasma MIF and log [total IgE] levels are significantly elevated in atopic dermatitis (AD) patients. The aim of this study was to evaluate the relationship between two MIF polymorphisms, −173 G to C and −794 CATT5–8, and total plasma IgE levels in AD patients in Korea. We performed PCR-RFLP analysis in 178 AD patients and 80 control subjects to determine whether MIF SNPs are associated with susceptibility to AD. Plasma total IgE and MIF levels were determined, and then logistic regression analyses were performed to determine the associations between a SNP or haplotype and plasma total IgE or MIF levels. The −173 G/C polymorphism, located in the MIF promoter, was significantly associated with AD; the odds ratios (ORs) for the CC homozygotes and GC heterozygotes were 9.3 and 2.5, respectively. The MIF C/5-CATT and the MIF C/7-CATT haplotypes were significantly associated with AD; the ORs for the MIF C/5-CATT and MIF C/7-CATT haplotypes were 9.7 and 4.5, respectively. Log [total IgE] levels were highly associated with the MIF −794 7-CATT polymorphism. Notably, the MIF C/7-CATT haplotype was associated with a decrease in plasma log [total IgE] levels in a gene dose-dependent manner. Although log [MIF] levels were not associated with the MIF polymorphisms, the frequencies of the MIF C/5-CATT haplotype-containing genotypes decreased in order of MIF levels. Our results demonstrate that MIF promoter polymorphisms in the −173 C allele and the MIF C/5-CATT and C/7-CATT haplotypes were significantly associated with an increased risk for AD. In particular, the −794 7-CATT locus and the MIF C/7-CATT haplotype were significantly associated with decreased total IgE levels in the plasma, suggesting that these polymorphisms might be a marker for intrinsic AD rather than extrinsic AD that shows high total IgE levels and presence of allergen-specific IgE.

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Promoter region polymorphism of macrophage migration inhibitory factor is strong risk factor for young onset of extensive alopecia areata

Cited by 34 publications

References 31 publications

Lymphocytes, neuropeptides, and genes involved in alopecia areata

Lymphocytes, neuropeptides, and genes involved in alopecia areata

Promoter polymorphism in the macrophage migration inhibitory factor gene is associated with obesity

Association of Macrophage Migration Inhibitory Factor Polymorphisms with Total Plasma IgE Levels in Patients with Atopic Dermatitis in Korea

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