Single-nucleotide Polymorphism in the CD14 Promoter and Periodontal Disease Expression in a Japanese Population

2003 ◽  
Vol 82 (8) ◽  
pp. 612-616 ◽  
Author(s):  
K. Yamazaki ◽  
K. Ueki-Maruyama ◽  
T. Oda ◽  
K. Tabeta ◽  
Y. Shimada ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Periodontal Disease ◽  
Japanese Population ◽  
Young Patients ◽  
Genotype Distribution ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Control Subjects ◽  
Significant Difference ◽  
And Gender

It has been reported that there is a relationship between a single-nucleotide polymorphism (SNP) in the promoter region of the CD14 gene at position -159 (C→T) and infectious diseases. The aim of the present study was to test the hypthesis that expression of this SNP correlates with periodontal disease in a Japanese population. The CD14 genotype was determined in 163 subjects with periodontitis and in 104 age- and gender-matched control subjects without periodontitis. The genotype distribution and allele frequency within the periodontitis patients were not significantly different from those of control subjects. There was, however, a significant difference in the genotype distribution between young patients (< 35 yrs) and older patients (≥ 35 yrs). These findings suggest that CD14 -159C/T polymorphism is not related to the development of periodontitis in a Japanese population, but that, within the periodontitis subjects, expression of the SNP may be related to early disease activity.

scholarly journals A Putative Association of a Single Nucleotide Polymorphism in GPR126 with Aggressive Periodontitis in a Japanese Population

PLoS ONE ◽  
2016 ◽  
Vol 11 (8) ◽  
pp. e0160765 ◽  
Author(s):  
Jirouta Kitagaki ◽  
Shizuka Miyauchi ◽  
Yoshihiro Asano ◽  
Atsuko Imai ◽  
Shinji Kawai ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Japanese Population ◽  
Aggressive Periodontitis ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

BTNL2 gene polymorphism and sarcoid uveitis

2019 ◽  
pp. bjophthalmol-2018-312949 ◽  
Author(s):  
Mayeul Chaperon ◽  
Yves Pacheco ◽  
Delphine Maucort-Boulch ◽  
Jean Iwaz ◽  
Laurent Perard ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Gene Polymorphism ◽  
Nucleotide Polymorphism ◽  
Predisposing Factor ◽  
Single Nucleotide ◽  
Genotype Frequencies ◽  
Subgroup Ii ◽  
Significant Difference ◽  
Caucasian Women ◽  
Patient Subgroups

BackgroundUveitis is a frequent and early feature of sarcoidosis. As BTNL2 (butyrophilin-like 2) gene polymorphism was found linked with the susceptibility to sarcoidosis, we investigated whether a specific genotype of BTNL2 gene G16071A (or rs2076530) single-nucleotide polymorphism (SNP) would be associated with the risk of sarcoid uveitis in all patient subgroups.MethodsThe study compared the genotype frequencies of SNP G16071A of 135 patients with sarcoid uveitis (Sa+Uv+) with those of 196 patients with sarcoidosis without uveitis (Sa+Uv−), 81 patients with uveitis without sarcoidosis (Sa−Uv+), and 271 controls with no sarcoidosis nor uveitis (Sa−Uv−). Three hypothetical subgroups of patients with sarcoid uveitis (Sa+Uv+ cases) were considered: (1) subgroup I: patients aged <45 years of both sexes and all ethnic origins; (2) subgroup II: Caucasian women aged >45 years; and (3) subgroup III: all other patients.ResultsA statistically significant difference in genotype frequencies was found between the groups Sa+Uv− and Sa−Uv− (p=3.2×10−6) and between the groups Sa+Uv+ and Sa+Uv− (p=7.1×10−3). There was no difference between the three subgroups of Sa+Uv+ patients. There was a statistically significant difference in genotype frequencies between Sa+Uv− and Sa+Uv+ subgroup II (p=0.005) but no difference between Sa+Uv− and Sa+Uv+ subgroup I.ConclusionNo association was found between G16071A and the susceptibility to sarcoid uveitis. BTNL2 gene G16071A SNP seems to be a predisposing factor for sarcoidosis except in Caucasian postmenopausal women with sarcoid uveitis in whom the GG genotype prevails. These and future results will help in understanding differences between particular subgroups of patients with sarcoid uveitis.

A single-nucleotide polymorphism in the human THADA gene is associated with circulating resistin in the general Japanese population

2011 ◽  
Vol 2 (4) ◽  
pp. 190-196 ◽  
Author(s):  
Ryoichi Kawamura ◽  
Yasuharu Tabara ◽  
Hiroshi Onuma ◽  
Ryuichi Kawamoto ◽  
Jun Ohashi ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Japanese Population ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
General Japanese Population

Disease Phenotypes and Gender Association of FCRL3 Single-Nucleotide Polymorphism −169T/C in Taiwanese Patients with Systemic Lupus Erythematosus and Rheumatoid Arthritis

2010 ◽  
Vol 38 (2) ◽  
pp. 264-270 ◽  
Author(s):  
JI-YIH CHEN ◽  
CHIN-MAN WANG ◽  
YEONG-JIAN JAN WU ◽  
SHIN-NING KUO ◽  
CHIUNG-FANG SHIU ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphism ◽  
Lupus Erythematosus ◽  
Nucleotide Polymorphism ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Disease Phenotypes ◽  
And Gender ◽  
Non Destructive

Objective.To investigate the association of the functional FCRL3 single-nucleotide polymorphism (SNP) −169T/C with disease phenotypes and susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Taiwanese.Methods.FCRL3 SNP −169T/C was genotyped in 573 patients with SLE, 670 patients with RA, and 758 controls. Genotype distributions and allele frequencies were compared among the 3 groups as aggregates or as stratified by clinical characteristics, autoantibody profile, and sex within patient groups.Results.Overall, FCRL3 SNP −169T/C was not associated with susceptibility to either SLE or RA. However, −169CC genotype was significantly reduced in leukopenia-positive SLE patients as compared to the leukopenia-negative SLE patients (CC vs CT+TT, p = 6 × 10−4, OR 0.444, 95% CI 0.279–0.708) and controls (p = 6.1 × 10−3, OR 0.583, 95% CI 0.396–0.857). On the other hand, −169TT genotypes were significantly more numerous in RA patients with non-destructive disease as compared with patients with destructive disease (CC+CT vs TT: p = 0.007, OR 1.672, 95% CI 1.149–2.432). The −169T allele frequency was also significantly increased in non-destructive RA compared with patients with destructive disease (C vs T: p = 0.010, OR 1.423, 95% CI 1.089–1.859). FCRL3 SNP −169TT homozygous donors were significantly more numerous among female cyclic citrullinated peptide (CCP)-negative RA patients versus female CCP-positive RA patients (CC+CT vs TT: p = 0.019, OR 1.64, 95% CI 1.085–2.479).Conclusion.The functional FCRL3 SNP −169T/C appears to play important roles in the development of certain phenotypes such as SLE leukopenia and RA disease severity in Taiwanese patients with SLE and RA.

scholarly journals Single-nucleotide Polymorphism (SNP) in β-Defensin 2 in a Japanese Population and an Effect of - 1029 SNP on Promoter Activity

2005 ◽  
Vol 2 (2) ◽  
pp. 80-84 ◽  
Author(s):  
Kaoru Kusano ◽  
Yoshihiro Abiko ◽  
Michiko Nishimura ◽  
Toshiya Arakawa ◽  
Maiko Takeshima ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Japanese Population ◽  
Promoter Activity ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide

scholarly journals Bovine cardiac troponin I gene (<i>TNNI3</i>) as a candidate gene for bovine dilated cardiomyopathy

2009 ◽  
Vol 52 (2) ◽  
pp. 113-123
Author(s):  
M. Owczarek-Lipska ◽  
G. Dolf ◽  
K. E. Guziewicz ◽  
T. Leeb ◽  
C. Schelling ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Dilated Cardiomyopathy ◽  
Candidate Gene ◽  
Expression Analysis ◽  
Cardiac Troponin ◽  
Troponin I ◽  
Troponin T ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Significant Difference

Abstract. The cardiac troponin complex, which is an important component of the contractile apparatus, is composed of the three subunits troponin I (TnI), troponin C (TnC) and troponin T (TnT). Troponin I is the inhibitory subunit and consists of three isoforms encoded by TNNI1, TNNI2 and TNNI3 genes, respectively. Due to the different types of cardiomyopathies caused by mutations in the TNNI3 gene and its fluorescence in situ hybridization (FISH) mapping on bovine chromosome 18q26, which was shown to be linked to the recessively inherited bovine dilated cardiomyopathy (BDCMP), bovine TNNI3 was considered as candidate gene for BDCMP. Real-time polymerase chain reaction (PCR) TNNI3 expression analysis resulted in a significant difference between BDCMP affected and unaffected animals when normalized to ACTB gene expression, but there was no significant difference in expression when normalized to GAPDH. Northen blotting experiment was in agreement with the expression analysis and did not reveal a significant difference between the group of BDCMP affected and unaffected animals. Sequencing of the bovine TNNI3 gene revealed a single nucleotide polymorphism in intron 6 (c.378+315G>A), but this single nucleotide polymorphism (SNP)was present regardless of the BDCMP status. In summary our data provide evidence to exclude the bovine TNNI3 gene as a candidate for BDCMP.

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