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Published in: Diseases of the Colon & Rectum 2/2007

01-02-2007

Impact of Phospholipase A2 Group IIa Gene Polymorphism on Phenotypic Features of Patients with Familial Adenomatous Polyposis

Authors: Ritsuko Yanaru-Fujisawa, M.D., Takayuki Matsumoto, M.D., Yoji Kukita, Ph.D., Shotaro Nakamura, M.D., Takashi Yao, M.D., Kenshi Hayashi, Ph.D., Mitsuo Iida, M.D.

Published in: Diseases of the Colon & Rectum | Issue 2/2007

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Purpose

Phospholipase A2 Group IIa has been suggested to be a possible disease modifier gene in familial adenomatous polyposis. This investigation was designed to elucidate possible association between phospholipase A2 Group IIa polymorphism and phenotypes of patients with familial adenomatous polyposis.

Methods

Phospholipase A2 Group IIa was examined by polymerase chain reaction-based single strand conformation polymorphism and direct sequencing in 55 patients from 45 families with familial adenomatous polyposis. The patients were examined by gastroduodenoscopy plus biopsy with respect to fundic gland polyposis and gastroduodenal adenomas. Helicobacter pylori status was determined by rapid urease test. Contributions of genetic alteration and Helicobacter pylori infection to intestinal and extraintestinal lesions were investigated.

Results

Four types of single nucleotide polymorphism were found in exon 3 of phospholipase A2 Group IIa, among which single nucleotide polymorphism in codon 32 was the most frequent. The prevalence of fundic gland polyposis was higher in patients positive for single nucleotide polymorphism of phospholipase A2 Group IIa than those negative for single nucleotide polymorphism (61 vs. 33 percent; P < 0.05). In contrast, positive rate of Helicobacter pylori infection was lower in the former than in the latter (22 vs. 52 percent; P < 0.05). The prevalence of the other phenotypes was not different significantly. Logistic regression analysis revealed a possibility toward single nucleotide polymorphism of phospholipase A2 Group IIa as an independent risk factor for fundic gland polyposis (95 percent confidence interval, 00.9–14.3; P = 0.06).

Conclusions

Phospholipase A2 Group IIa may be a modifier gene for fundic gland polyposis in patients with familial adenomatous polyposis.
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Metadata
Title
Impact of Phospholipase A2 Group IIa Gene Polymorphism on Phenotypic Features of Patients with Familial Adenomatous Polyposis
Authors
Ritsuko Yanaru-Fujisawa, M.D.
Takayuki Matsumoto, M.D.
Yoji Kukita, Ph.D.
Shotaro Nakamura, M.D.
Takashi Yao, M.D.
Kenshi Hayashi, Ph.D.
Mitsuo Iida, M.D.
Publication date
01-02-2007
Publisher
Springer-Verlag
Published in
Diseases of the Colon & Rectum / Issue 2/2007
Print ISSN: 0012-3706
Electronic ISSN: 1530-0358
DOI
https://doi.org/10.1007/s10350-006-0780-2

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