Association of STAT6 variants with asthma risk: A systematic review and meta-analysis

Qian, Xubo; Gao, Yuan; Ye, Xiaohong; Lu, Meiping

doi:10.1016/j.humimm.2014.06.007

Cited by 18 publications

(16 citation statements)

References 35 publications

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“…STAT6 is a transcription factor, essential for the functional responses of Th2 lymphocytes mediated by IL-4 and IL-13 29 . This result robustly establishes the association of STAT6 with asthma risk that has been disputed by candidate gene studies 30 . The 5q31.3 lead SNP rs7705042 ( P random =7.9×10 −9 in multi-ancestry analysis) is within an intron of NDFIP1 and associated with NDFIP1 expression in blood 11 – 13 .…”

Section: Resultssupporting

confidence: 67%

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Demenais¹,

Margaritte‐Jeannin²,

Barnes³

et al. 2017

Nat Genet

436

524

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We examined common variation in asthma risk by conducting a meta-analysis of worldwide asthma genome-wide association studies (23,948 cases, 118,538 controls) from ethnically-diverse populations. We identified five new asthma loci, uncovered two additional novel associations at two known asthma loci, established asthma associations at two loci implicated previously in comorbidity of asthma plus hay fever, and confirmed nine known loci. Investigation of pleiotropy showed large overlaps in genetic variants with autoimmune and inflammatory diseases. Enrichment of asthma risk loci in enhancer marks, especially in immune cells, suggests a major role of these loci in the regulation of immune-related mechanisms.

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Section: Resultssupporting

confidence: 67%

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Demenais¹,

Margaritte‐Jeannin²,

Barnes³

et al. 2017

Nat Genet

436

524

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“…STAT6 has similarity with other STAT proteins and is one of the most common candidate genes associated with higher levels of IgE [38] . STAT6 is essential for the functional responses of Th2 cells by inducing 2 forms of the cytokines IL-4 and IL-13 [39,40] . rs324011 in STAT6 shows a significant association with higher IgE levels in asthma and atopic dermatitis in children [41][42][43] .…”

Section: Discussionmentioning

confidence: 99%

Associations between STAT Gene Polymorphisms and Psoriasis in Northeastern China

Zhou

Li²,

Sun³

2017

Dermatology

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Background: Psoriasis is an autoimmune disease with genetic and environmental factors. Based on the roles of STATs (signaling transducers and activators of transcription) in autoimmune diseases, it is assumed STAT gene polymorphisms are associated with psoriasis. Objectives: To study the association between STAT gene polymorphisms and psoriasis in the northeastern Chinese population. Methods: Eight single-nucleotide polymorphisms were genotyped: rs2293152, rs3816769, rs4796793, and rs744166 in STAT3, rs7574865 and rs3024866 in STAT4, and rs324011 and rs3024974 in STAT6, using SNaPshot methods. The genotype, allele, and haplotype frequencies were compared between 400 psoriasis patients and 398 healthy individuals in northeastern China. Results: rs744166GG in STAT3 and rs7574865TT in STAT4 had higher frequencies in the case than the control group, suggesting these 2 genotypes increase the susceptibility to psoriasis (p < 0.05). Three haplotypes (H3, H6, and H7) were found to be associated with psoriasis in the study (p < 0.05). Conclusions: These results indicate a role of STAT genes in the pathogenesis of psoriasis.

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“…In previous studies, the A allele of rs1059513 was described as a risk variant, associated with asthma, atopic dermatitis, higher IgE levels and sensitization to common food and inhalant allergens . The A allele of rs324015 was previously associated with an increased risk for atopic asthma in a meta‐analysis and with eosinophilia in local inflammatory sites . In contrast, this A allele was also described as the protective allele for nut allergy in 300 British subjects .…”

Section: Discussionmentioning

confidence: 99%

Association of STAT6 gene variants with food allergy diagnosed by double‐blind placebo‐controlled food challenges

Ginkel

Pettersson

Dubois

et al. 2018

Allergy

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This study describes the role of two STAT6 gene variants in food allergy using data of patients and their parents who underwent double‐blind placebo‐controlled food challenges (DBPCFCs). After quality control, 369 trios were analysed including 262 children (71.0%) with food allergy. Associations were tested by the Family based association test. The A alleles of both SNPs were associated with food allergy (P = .036 and P = .013 for rs324015 and rs1059513, respectively). Furthermore, these A alleles were associated with peanut allergy, higher sIgE levels to both peanut and cow's milk, more severe symptoms and higher eliciting doses during peanut and cow's milk DBPCFCs (all P < .05). In silico analysis indicates that the identified risk variants increase STAT6 expression which stimulates the differentiation of CD4 + T cells to the Th2 subset. In conclusion, STAT6 variants may be involved in the pathophysiology of food allergy and their role seems to be independent of the allergenic food.

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Association of STAT6 variants with asthma risk: A systematic review and meta-analysis

Cited by 18 publications

References 35 publications

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Associations between STAT Gene Polymorphisms and Psoriasis in Northeastern China

Association of STAT6 gene variants with food allergy diagnosed by double‐blind placebo‐controlled food challenges

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