<i>NFKB1</i>-94insertion/deletion ATTG polymorphism and cancer risk: Evidence from 50 case-control studies

Fu, Wen; Zhang, Zhuo; Chen, Yung‐Chang; Zhu, Jinhong; Zhang, Zhao; Jia, Wei Hua; Hu, Jinhua; Fu, Kai; Zhu, Shi-En; He, Jing; Liu, Guo-chang

doi:10.18632/oncotarget.14190

Cited by 51 publications

(45 citation statements)

References 91 publications

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“…Polymorphisms rs696 and rs2910164 were in Hardy-Weinberg equilibrium in the control group (p=0.0967 and p=0.8020; respectively), while the rs28362491 variant was not (p=0.0001). The latter is in accordance with other European control groups which were not or were only approximately in equilibrium for the rs28362491 variant (19). Finally, the X-chromosome linked polymorphism rs3027898 was in Hardy-Weinberg equilibrium in the female control group, where the three genotypes existed (p=0.6615).…”

Section: Resultssupporting

confidence: 88%

Association of IRAK1 Gene Polymorphism rs3027898 With Papillary Cancer Restricted to the Thyroid Gland: A Pilot Study

Chatzikyriakidou

Chorti

Papavramidis

2019

In Vivo

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Background/Aim: The incidence of thyroid cancer has increased predominantly due to an increase in papillary thyroid cancer (PTC). Alteration of toll-like receptor function has been reported to play a crucial role in carcinogenesis. The aim of the present study was to investigate predisposition to PTC associated with genetic markers of toll-like receptor and interleukin-1 receptor pathways involving nuclear factor kappa-light-chainenhancer of activated B-cells (NF-ĸB) stimulation. Specifically, the study focused on the following genes: interleukin-1 receptor-associated kinase 1 (IRAK1, rs3027898), NF-ĸB inhibitor alpha (NFΚBIA, rs696), NF-ĸB subunit 1 (NFΚB1, rs28362491), and microRNA-146a (miR-146a, rs2910164). Patients and Methods: Forty-eight unrelated patients with papillary cancer restricted to the thyroid gland and 93 healthy volunteers were enrolled in the study. Results: A strong statistically significant difference was observed between patients with PTC and controls for IRAK1 rs3027898 variant. When the statistical analysis was replicated taking into account patient's sex, the rs3027898 A allele was revealed to be the risky variant in males. Conclusion: Additional studies in larger groups of patients of various origins are needed to validate these preliminary findings.

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Section: Resultssupporting

confidence: 88%

Association of IRAK1 Gene Polymorphism rs3027898 With Papillary Cancer Restricted to the Thyroid Gland: A Pilot Study

Chatzikyriakidou

Chorti

Papavramidis

2019

In Vivo

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“…Polymorphism rs696 located in the 3’ UTR of NFKBIA gene was in Hardy‐Weinberg (HW) equilibrium in the control group ( P = 0.0637). The variant rs28362491 (‐94ATTG insertion/deletion) located in the promoter region of NFKB1 gene was not in HW equilibrium ( P = 0.0009), but this is in accordance with this reported for other European control groups . As far as concerned, the polymorphism rs3027898 located in the 3’ UTR of IRAK1 gene, which is mapped in X chromosome, was found in HW equilibrium in female control group where the three genotypes exist ( P = 0.4872).…”

Section: Resultssupporting

confidence: 85%

“…This association between NFKB1 gene and PV, where the insertion variant is the risk allele, is described for the first time in the literature. Previously, this polymorphism has been mainly associated with several cancer forms and heart diseases . In the present study, over‐presentation of the NFKB1 insertion allele was observed in PV patients as it was observed in the majority of studies referred to cancer …”

Section: Discussionsupporting

confidence: 61%

Association of NFKB1 ‐94ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris

Chatzikyriakidou

Kyriakou

Meltzanidou

et al. 2019

Experimental Dermatology

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Pemphigus is a group of autoimmune diseases that affect the skin and the mucous membranes. Several subtypes of pemphigus have been identified, based on clinical and histologic features as well as on the specific antigens targeted by circulating autoantibodies.Pemphigus vulgaris (PV) is the most prevalent type of pemphigus, comprising up to 70% of all cases of pemphigus. [1] PV is characterized by acantholysis and intraepidermal blister formation, resulting from IgG autoantibodies directed against transmembrane desmosomal glycoprotein desmoglein 3 and in some cases desmoglein 1. [2,3] However, many immunological steps are required prior to autoantibody production that is the key to the development of blisters in pemphigus.Interleukin-1 receptor-activated kinases (IRAKs) are key mediators in the IRAK1/NF-κB signalling pathway. IRAK1 plays a significant role in NF-κB activation, which subsequently increases the expression of many genes related to immunological reactions. [4,5] NF-kB is inactivated by cytoplasmic trapping through IkB proteins (eg NFKBIA). Phosphorylation of serine residues on the I kappa B proteins, by kinases, marks them for destruction via the ubiquitination pathway, thereby allowing activation of the NF-kB. AbstractPemphigus vulgaris is a rare chronic blistering skin disease resulting from IgG autoantibodies directed against transmembrane desmosomal glycoprotein desmoglein 3 and is the most common form of pemphigus. Since interleukin-1 receptor-associated kinase (IRAK-1)/nuclear factor-kappa B (NF-kappa B) pathway plays an essential role in the pathogenesis of autoimmune diseases, the aim of the present study was to explore the role of polymorphisms in three genes, named IRAK1 (rs3027898), NFKBIA (rs696) and NFKB1 (-94ATTG insertion/deletion variant, -rs28362491), in PV susceptibility. Forty-four unrelated patients with PV (23 males) were enrolled in the study.Additionally, 77 ethnic matching healthy volunteers (45 males) with no personal or family history of chronic autoimmune or infectious diseases were studied. Strong statistical significant difference was observed between PV patients and controls for polymorphism -94 insertion/deletion ATTG in the promoter region of NFKB1 gene (P = 0.00005). Additional dedicated studies in larger groups of patients of various ethnicities are needed to replicate and confirm the preliminary findings. K E Y W O R D S IRAK1, NFKB1, NFKBIA, pemphigus vulgaris, polymorphism | 973 CHATZIKYRIAKIDOU eT Al. P-value 0.33353 0.00005 0.2844 Alleles Alleles Alleles C A Ins Del G A Male PV patients (n = 23) 5 18 PV patients (n = 88) 63 25 45 43 Male Controls (n = 45) 17 28 Controls (n = 154) 75 79 86 68 P-value 0.186 P-value 0.0006 0.480 OR, 95% CI 0.476 (0.144-1.459) OR, 95% CI 2.65 (1.515-4.651) 0.828 (0.489-1.399) Genotypes CC AC AA Female PV patients (n = 21) 1 11 9 Female Controls (n = 32) 2 15 15 P-value (Yates' correction) 0.932 The authors have declared no conflicting interests. AUTH O R CO NTR I B UTI O N AC had the concept and designed the study, performed the rese...

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“…Referencing the previous studies [33,34], we carried out the trial sequential analysis (TSA) test for the assessment of conclusion robustness using the TSA viewer software (http://www.ctu.dk/tsa/) (type I error probability = 5%, statistical test power = 80%, and relative risk reduction = 20%).…”

Section: Trial Sequential Analysismentioning

confidence: 99%

Association between FCGR2A rs1801274 and MUC5B rs35705950 variations and pneumonia susceptibility

Shi

et al. 2020

BMC Med Genet

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Background: Herein, we collected currently published data to comprehensively evaluate the impact of the FCGR2A (Fc fragment of IgG receptor IIa) rs1801274 and MUC5B (mucin 5B, oligomeric mucus/gel-forming) rs35705950 variations on susceptibility to pneumonia diseases. Methods: We retrieved case-control studies from three online databases and applied the statistical approach of meta-analysis for a series of pooling analyses. Results: A total of fourteen case-control studies were included for FCGR2A rs1801274; while thirty-one case-control studies were included for MUC5B rs35705950. No significant difference between pneumonia cases and controls for FCGR2A rs1801274 was found. However, MUC5B rs35705950 was significantly associated with pneumonia susceptibility in the whole population under the genetic models of allelic T vs. G [OR (odds ratio) =3.78], carrier T vs. G (OR = 3.31), TT vs. GG (OR = 13.66), GT vs. GG (OR = 4.78), GT + TT vs. GG (OR = 5.05), and TT vs. GG + GT (OR = 6.47) (all P < 0.001, Bonferroni-adjusted P < 0.006; false discovery rate-adjusted P < 0.0010). Furthermore, we observed a similar positive result for subgroup analyses of "Caucasian", "Asian", "population-based control", and "idiopathic pulmonary fibrosis". Conclusions: MUC5B rs35705950, but not FCGR2A rs1801274, increases susceptibility to clinical pneumonia, especially to idiopathic pulmonary fibrosis, in both the Caucasian and Asian populations.

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NFKB1-94insertion/deletion ATTG polymorphism and cancer risk: Evidence from 50 case-control studies

Cited by 51 publications

References 91 publications

Association of IRAK1 Gene Polymorphism rs3027898 With Papillary Cancer Restricted to the Thyroid Gland: A Pilot Study

Association of IRAK1 Gene Polymorphism rs3027898 With Papillary Cancer Restricted to the Thyroid Gland: A Pilot Study

Association of NFKB1 ‐94ATTG ins/del polymorphism (rs28362491) with pemphigus vulgaris

Association between FCGR2A rs1801274 and MUC5B rs35705950 variations and pneumonia susceptibility

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