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Analysis of Single Nucleotide Polymorphisms in the 5′‐Flanking Region of Tumor Necrosis Factor‐Alpha Gene in Japanese Patients With Early‐Onset Periodontitis
Author(s) -
Endo Motohiro,
Tai Hideaki,
Tabeta Koichi,
Kobayashi Tetsuo,
Yamazaki Kazuhisa,
Yoshie Hiromasa
Publication year - 2001
Publication title -
journal of periodontology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.036
H-Index - 156
eISSN - 1943-3670
pISSN - 0022-3492
DOI - 10.1902/jop.2001.72.11.1554
Subject(s) - haplotype , genotype , single nucleotide polymorphism , allele , allele frequency , genetics , 5' flanking region , biology , gene , genotype frequency , microbiology and biotechnology , gene expression , promoter
Background: Early‐onset periodontitis (EOP) is considered to have a genetic basis, which has not been clearly defined. The tumor necrosis factor‐alpha (TNF‐α) gene polymorphism as one of the genetic factors may influence the expression of several chronic inflammatory diseases. The aim of the present study was to evaluate whether the polymorphisms in the 5′‐flanking region of the TNF‐α gene are associated with Japanese EOP patients. Methods: Forty‐six Japanese, generalized EOP (G‐EOP) patients and 104 Japanese healthy subjects were identified according to established clinical criteria. Twenty healthy subjects were analyzed by nucleotide sequence to screen polymorphisms of the 5′‐flanking region of the TNF‐α gene. Then, all subjects were analyzed by polymerase chain reaction and sequencespecific oligonucleotide probe (SSOP) methods. Results: We determined 5 single nucleotide polymorphisms at positions −1031 (T/C), −863 (C/A), −857 (C/T), −308 (G/A), and −238 (G/A) in the 5′‐flanking region of the TNF‐α gene. There were no significant differences in the genotype and allele frequency when we compared G‐EOP patients to healthy subjects. Because the frequency of polymorphic alleles at positions −308 and −238 was very low in this study population, we demonstrated the existence of 4 detected haplotypes and 6 detected genotypes concerning 3 single nucleotide polymorphisms (−1031, −863, and −857). The frequency of the H1/H3 (TCC/TCT)‐detected genotype tended to decrease in G‐EOP patients compared to healthy subjects, but was not statistically significant. Conclusion: These findings suggest there is no significant association between polymorphisms in the 5′‐flanking region of the TNF‐α gene and susceptibility to G‐EOP in Japanese patients. J Periodontol 2001;72:1554‐1559.