Increased Frequency of Rh (E) in Acute Appendicitis

Bašta, Milan; Radovanović, Zoran; Radojicić, C

doi:10.1159/000153740

Cited by 7 publications

(7 citation statements)

References 2 publications

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“…They have found that blood group-A have am uch higher risk of having appendicitis than those of group-o. They have also found that CcD-Ee Rh phenotype significantly more frequent in patients with appendicitis (27). in the light of these studies, we can say that therecan be a role of polygenic inheritance in acute appendicitis.…”

Section: Geneticsmentioning

confidence: 72%

Heredity and Familial Tendency of Acute Appendicitis

Ergül

2007

Scand J Surg

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Background: Althoughinflammatory disease of the vermiformappendix has been recognized as such for morethan 100 years, its etiology remains asubject of controversy.The notionthat appendicitisisfamilial, is not only important for understandingthe etiology of the condition but might contribute substantially to the diagnosis and thus provide an indication for early surgical intervention.Methods: An extensiveMedline search, textbooks, scientific reportsand scientific journals are the data sources.Conclusions: In the light of past studies, we can suggest that almost half of the variability in risk of acute appendicitis is due to genetic factors. Ap ositive family history increases the relative risk of beingacute appendicitisnearly 3times.

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Section: Geneticsmentioning

confidence: 72%

Heredity and Familial Tendency of Acute Appendicitis

Ergül

2007

Scand J Surg

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“…The heritability of AA is estimated to be high at 30.1%, in agreement with previous twin studies, which had estimated the heritability of AA to be between 21% and 56%. [33][34][35] The SNVs that we associate here with AA are common in the general population. This observation, along with the small effect sizes, suggests that AA has a complex inheritance.…”

Section: Discussionmentioning

confidence: 89%

Association Between NEDD4L Variation and the Genetic Risk of Acute Appendicitis

et al. 2021

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The familial aspect of acute appendicitis (AA) has been proposed, but its hereditary basis remains undetermined.OBJECTIVE To identify genomic variants associated with AA. DESIGN, SETTING, AND PARTICIPANTSThis genome-wide association study, conducted from June 21, 2019, to February 4, 2020, used a multi-institutional biobank to retrospectively identify patients with AA across 8 single-nucleotide variation (SNV) genotyping batches. The study also examined differential gene expression in appendiceal tissue samples between patients with AA and controls using the GSE9579 data set in the National Institutes of Health's Gene Expression Omnibus repository. Statistical analysis was conducted from October 1, 2019, to February 4, 2020.MAIN OUTCOMES AND MEASURES Single-nucleotide variations with a minor allele frequency of 5% or higher were tested for association with AA using a linear mixed model. The significance threshold was set at P = 5 × 10 −8 .RESULTS A total of 29 706 patients (15 088 women [50.8%]; mean [SD] age at enrollment, 60.1 [17.0] years) were included, 1743 of whom had a history of AA. The genomic inflation factor for the cohort was 1.003. A previously unknown SNV at chromosome 18q was found to be associated with AA (rs9953918: odds ratio, 0.99; 95% CI, 0.98-1.00; P = 4.48 × 10 −8 ). This SNV is located in an intron of the NEDD4L gene. The heritability of appendicitis was estimated at 30.1%. Gene expression data from appendiceal tissue donors identified NEDD4L to be among the most differentially expressed genes (14 of 22 216 genes; β [SE] = −2.71 [0.44]; log fold change = −1.69; adjusted P = .04). CONCLUSIONS AND RELEVANCEThis study identified SNVs within the NEDD4L gene as being associated with AA. Nedd4l is involved in the ubiquitination of intestinal ion channels and decreased Nedd4l activity may be implicated in the pathogenesis of AA. These findings can improve the understanding of the genetic predisposition to and pathogenesis of AA.

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“…By studying the families of 80 patients, he found no evidence of a major gene involved, but a multifactorial or polygenic model with a 56% total heritability and a relative risk of 10.0 (95% CI 4.7 to 21.4), that varied in relation to kinship grade (21% for first-grade family, 12% for second-grade family and 7% for third-grade family) 32. Basta et al showed that an association between phenotype CcD-Ee Rh33 and the blood group A, when compared with the O group,34 being found in more proportion in patients with appendicitis when compared with the control group.…”

Section: Discussionmentioning

confidence: 99%

Familial history aggregation on acute appendicitis

Alari¹,

Gutierrez²

2017

BMJ Case Reports

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Appendectomy is the most commonly performed surgical procedure, affecting 1%-8% of the paediatric population, with a total 7% lifetime risk, most likely in adolescents and young adults.A case of familial aggregation was reported in our hospital in a family composed of nine siblings from which six of them (66.6%) had been treated of acute appendicitis, five of them in our centre.Many factors have been described as predisposing to appendicitis. Several studies have highlighted the influence of genes in the evolution of this disease and its severity, demonstrating a relative risk increase by three when family history is present.Family history of acute appendicitis is an important factor to be taken into consideration during the medical interview. Clinicians attempting to fine-tune their diagnostic accuracy when patients present with acute abdominal pain should inquire about family history of appendicitis.

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Increased Frequency of Rh (E) in Acute Appendicitis

Cited by 7 publications

References 2 publications

Heredity and Familial Tendency of Acute Appendicitis

Heredity and Familial Tendency of Acute Appendicitis

Association Between NEDD4L Variation and the Genetic Risk of Acute Appendicitis

Familial history aggregation on acute appendicitis

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