Association between Genetic Polymorphisms in DEFB1 and Susceptibility to Digestive Diseases

Huang, Yunmao; Wang, Tian-Yi; Wang, Wei; Sun, Hongzhi

doi:10.12659/msm.893453

Cited by 11 publications

(5 citation statements)

References 40 publications

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“…However, further research is needed to obtain conclusive data. In addition, single nucleotide polymorphisms (SNPs) of the hBD-1 gene was connected with the pathogenesis of inflammatory bowel diseases and chronic gastritis [93], as well as oral diseases [94].…”

Section: Role Of Host Defense Peptides In Inflammationmentioning

confidence: 99%

Expression and Function of Host Defense Peptides at Inflammation Sites

Prasad

Fiedoruk

Daniluk

et al. 2019

IJMS

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There is a growing interest in the complex role of host defense peptides (HDPs) in the pathophysiology of several immune-mediated inflammatory diseases. The physicochemical properties and selective interaction of HDPs with various receptors define their immunomodulatory effects. However, it is quite challenging to understand their function because some HDPs play opposing pro-inflammatory and anti-inflammatory roles, depending on their expression level within the site of inflammation. While it is known that HDPs maintain constitutive host protection against invading microorganisms, the inducible nature of HDPs in various cells and tissues is an important aspect of the molecular events of inflammation. This review outlines the biological functions and emerging roles of HDPs in different inflammatory conditions. We further discuss the current data on the clinical relevance of impaired HDPs expression in inflammation and selected diseases.

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Section: Role Of Host Defense Peptides In Inflammationmentioning

confidence: 99%

Expression and Function of Host Defense Peptides at Inflammation Sites

Prasad

Fiedoruk

Daniluk

et al. 2019

IJMS

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“…This base change is thought to lead to a decreased production of defensin β-1 production and higher expression levels. 20, 21 The G allele is also more common in individuals with severe acute pancreatitis and less predominant in individuals with diabetes and S. aureus nasal colonization 8, 20, 21 .…”

Section: Discussionmentioning

confidence: 99%

Genetic and familial predisposition to rotator cuff disease: a systematic review

Dabija

Gao

Edwards

et al. 2017

Journal of Shoulder and Elbow Surgery

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Background Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and likely extends beyond repetitive micro-trauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease. Methods A literature search of PubMed and EMBASE databases identified 251 citations. After reviewing the titles, abstracts, and full articles, seven met our inclusion/exclusion criteria. Results Four studies assessed familial predisposition to rotator cuff disease. One of these demonstrated that siblings of an individual with a rotator cuff tear were more likely to develop a full-thickness tear and more likely to be symptomatic. A five-year follow-up showed that the relative risks were increased for the siblings to have a full-thickness tear, for a tear to progress in size, and for being symptomatic. Another study demonstrated that a significantly higher number of individuals with tears had family members with a history of tears or surgery than those without tears. The other three studies investigated whether a genetic predisposition to rotator cuff disease exists and found significant association of haplotypes in DEFB1, FGFR1, FGFR3, ESRRB, and FGF10, and two single nucleotide polymorphisms within SAP30BP and SASH1. Conclusion Prior studies provide preliminary evidence for genetic and familial predisposition to rotator cuff disease. However, there is a lack of large genome-wide studies that can provide more definitive information and guide early detection of individuals at risk, prophylactic rehabilitation, and potential gene therapies and regenerative medicine interventions. Level of Evidence Systematic Review

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“…DEFB1 is an important antimicrobial peptide in epithelial tissues and functions as a primary and broad-spectrum response by the host innate defense system [ 88 , 90 , 91 ]. Multiple studies reported that the low expression of DEFB1 , due to genetic polymorphisms, is associated with the pathogenesis of digestive diseases [ 92 , 93 ]. In contrast, other studies showed no such correlation between DEFB1 genetic polymorphisms and digestive diseases [ 94 , 95 ].…”

Section: Hp Virulence Factorsmentioning

confidence: 99%

β-Defensins in the Fight against Helicobacter pylori

et al. 2017

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Antimicrobial peptides (AMPs) play a pivotal role in the innate immune responses to Helicobacter pylori (Hp) in humans. β-Defensins, a class of cationic arginine-rich AMPs, are small peptides secreted by immune cells and epithelial cells that exert antimicrobial activity against a broad spectrum of microorganisms, including Gram-positive and Gram-negative bacteria and fungi. During Hp infections, AMP expression is able to eradicate the bacteria, thereby preventing Hp infections in gastrointestinal tract. It is likely that gastric β-defensins expression is increased during Hp infection. The aim of this review is to focus on increased knowledge of the role of β-defensins in response to Hp infection. We also briefly discuss the potential use of AMPs, either alone or in combination with conventional antibiotics, for the treatment of Hp infection.

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Association between Genetic Polymorphisms in DEFB1 and Susceptibility to Digestive Diseases

Cited by 11 publications

References 40 publications

Expression and Function of Host Defense Peptides at Inflammation Sites

Expression and Function of Host Defense Peptides at Inflammation Sites

Genetic and familial predisposition to rotator cuff disease: a systematic review

β-Defensins in the Fight against Helicobacter pylori

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