Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis

Soedarsono, Nurtami; Rabello, Doralina do Amaral; Kamei, Hidehiko; Fuma, Daisuke; Ishihara, Yuichi; Suzuki, Masataka; Noguchi, Toshihide; Sakaki, Yoshiyuki; Yamaguchi, Akira; Kojima, Toshio

doi:10.1111/j.1600-0765.2006.00874.x

Cited by 29 publications

(22 citation statements)

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“…This TNFSF11 transversion was not found in dbSNP (SNP Database),(54) nor was it reported in several association studies of RANKL polymorphisms. (55–57) However, we found it in 4 of 134 TNFSF11 alleles (3.0%) tested randomly among our patients and family members who did not have skeletal disorders resembling CED. (58)…”

Section: Resultsmentioning

confidence: 75%

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Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

Whyte

Totty

Novack

et al. 2010

Journal of Bone and Mineral Research

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We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFβ1 and TNFSF11 encoding TGFβ1 and RANKL, respectively. He suffered leg pain and weakness since childhood and reportedly grew until his late 20s, reaching 7 feet in height. He had deafness, perforated nasal septum, torus palatinus, disproportionately long limbs with knock-knees, low muscle mass, and pseudoclubbing. Radiographs revealed generalized skeletal abnormalities, including wide bones and cortical and trabecular bone thickening in keeping with CED, except that long bone ends were also affected. Lumbar spine and hip BMD Z-scores were + 7.7 and + 4.4, respectively. Biochemical markers of bone turnover were elevated. Hypocalciuria accompanied low serum 25-hydroxyvitamin D (25[OH]D) levels. Pituitary hypogonadism and low serum insulin-like growth factor (IGF)-1 were present. Karyotype was normal. Despite vitamin D repletion, iliac crest histology revealed severe osteomalacia. Exon 1 of TNFRSF11A (RANK), exons 2, 3, and 4 of LRP5, and all coding exons and adjacent mRNA splice junctions of TNFRSF11B (OPG), SQSTM1 (sequestosome 1), and TNSALP (tissue nonspecific alkaline phosphatase) were intact. His asymptomatic and less dysmorphic 5′11″ mother, also with low serum 25(OH)D, had milder clinical, radiological, biochemical, and histopathological findings. Both individuals were heterozygous for a novel 12-bp duplication (c.27_38dup, p.L10_L13dup) in exon 1 of TGFβ1, predicting four additional leucine residues in the latency-associated-peptide segment of TGFβ1, consistent with CED. The son was also homozygous for a single base transversion in TNFSF11, predicting a nonconservative amino acid change (c.107C > G, p.Pro36Arg) in the intracellular domain of RANKL that was heterozygous in his nonconsanguineous parents. This TNFSF11 variant was not found in the SNP Database, nor in published TNFSF11 association studies, but it occurred in four of the 134 TNFSF11 alleles (3.0%) we tested randomly among individuals without CED. Perhaps the unique phenotype of this CED family is conditioned by altered RANKL activity. © 2011 American Society for Bone and Mineral Research.

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Section: Resultsmentioning

confidence: 75%

“…This TNFSF11 change was not found in dbSNP(54) and was not reported in several association studies of RANKL SNPs with bone phenotypes. (55–57) The base change predicts a nonconservative amino acid alteration in a conserved region of this molecule that regulates osteoclastogenesis. RANKL is membrane bound, or soluble.…”

Section: Discussionmentioning

confidence: 99%

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

Whyte

Totty

Novack

et al. 2010

Journal of Bone and Mineral Research

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“…This response can be regulated positively or negatively by a number of factors such as local and systemic diseases, medications, systemic hormones, local cytokines including interleukin (IL)-1, IL-6, and IL-10, growth factors, mediators of bone metabolism (RANK) [7, 8], and genetic polymorphisms [9]. Although pathogens are the known etiological agents in peri-implant inflammatory disease, subsequent progression and disease severity can be attributed to differences in the host response to pathogenic microorganisms, as observed in other infectious diseases [10].…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of Il-10 (-1082) and RANKL (-438) Genes and the Failure of Dental Implants

Ribeiro

Melo

Neto

et al. 2017

International Journal of Dentistry

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Background. Genetic polymorphisms in certain cytokines and chemokines have been investigated to understand why some individuals display implant flaws despite having few risk factors at the time of implant. Purpose. To investigate the association of genetic polymorphisms in interleukin- (IL-) 10 [-1082 region (A/G)] and RANKL [-438 region (A/G)] with the failure of dental implants. Materials and Methods. This study included 90 partially edentulous male and female patients who were rehabilitated with a total of 245 Straumann dental implants. An implant was considered a failure if any of the following occurred: mobility, persistent subjective complaint, recurrent peri-implant infection with suppuration, continuous radiolucency around the implant, probing depth ≥ 5 mm, and bleeding on probing. Buccal mucosal cells were collected for analysis of RANKL438 and IL-10. Results. The implant success rate in this population was 34.4%. The mutant allele (G) in RANKL had an incidence of 52.3% and mutant allele (A) in IL-10 was observed in 37.8%. No statistically significant difference was detected between the failure of the implant and the genotypes and allelic frequencies. Conclusion. No association was detected between the genetic polymorphisms of RANKL (-438) and IL-10 (-1082) and the failure of dental implants in the population studied.

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“…Therefore, RANK-L and OPG regulate bone remodeling via positive or negative stimulation of RANK [4]. In dentistry, evaluation of the roles of RANK, RANKL, and OPG in alveolar bone resorption (seen in periodontitis and peri-implantitis) is a new topic of research [5,6,7]. Sarlati et al [8] compared the level of soluble RANKL (sRANKL) in peri-implant cervicular fluid (PICF) in three groups: (1) healthy implants, (2) implants with peri-implant mucositis, and (3) implants with peri-implantitis.…”

Section: Introductionmentioning

confidence: 99%

Receptor activator of nuclear factor kappa-B gene polymorphisms in Iranian periodontitis and peri-implantitis patients

Kadkhodazadeh

Baghani

Ebadian³

et al. 2014

J Periodontal Implant Sci

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PurposePeri-implantitis and periodontitis are inflammatory and infectious diseases of implant and tooth-supporting tissues. Recently, the role of gene polymorphisms of immune response components in the relevant pathogenesis has been investigated. The present study was the first to evaluate the relationship between two known single nucleotide polymorphisms (SNPs) of the receptor activator of nuclear factor kappa-β (RANK) gene (rs3018362 and rs35211496) in chronic periodontitis and peri-implantitis patients in an Iranian population.MethodsEighty-one periodontally healthy patients, 38 patients with peri-implantitis, and 74 patients with chronic periodontitis were enrolled in this study. DNA was extracted from blood arm vein samples by using Miller's salting out technique according to the manufacturer's instructions given in the extraction kit. The concentration of DNA samples was measured using a spectrophotometer. The genetic polymorphisms of the RANK gene were evaluated using a competitive allele specific polymerase chain reaction (KBioscience allele specific PCR) technique. Differences in the frequencies of genotypes and alleles in the diseased and healthy groups were analyzed using chi-squared statistical tests (P<0.05).ResultsAnalysis of rs35211496 revealed statistically significant differences in the expression of the TT, TC, and CC genotypes among the three groups (P=0.00). No statistically significant difference was detected in this respect between the control group and the chronic periodontitis group. The expression of the GG, GA, and AA genotypes and allele frequencies (rs3018362) showed no statistically significant difference among the three groups (P=0.21).ConclusionsThe results of this study indicate that the CC genotype of the rs35211496 RANK gene polymorphism was significantly associated with peri-implantitis and may be considered a genetic determinant for peri-implantitis, but this needs to be confirmed by further studies in other populations.Graphical Abstract

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Evaluation of RANK/RANKL/OPG gene polymorphisms in aggressive periodontitis

Abstract: An association analysis with allelotypes showed that SNPs identified in the RANK/RANKL/OPG genes have no significant association with AgP in the Japanese population.

Cited by 29 publications

References 44 publications

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand

Polymorphisms of Il-10 (-1082) and RANKL (-438) Genes and the Failure of Dental Implants

Receptor activator of nuclear factor kappa-B gene polymorphisms in Iranian periodontitis and peri-implantitis patients

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