Localized aggressive periodontitis is linked to human chromosome 1q25

Li, Yefu; Xu, Lin; Hastürk, Hatice; Kantarcı, Alpdoğan; DePalma, Steven R.; Dyke, Thomas E. Van

doi:10.1007/s00439-003-1065-7

Cited by 51 publications

(50 citation statements)

References 21 publications

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“…Subsequently, our findings may not necessarily apply to CGD patients from other ethnicities and regions. Moreover, the abundance of autosomal recessive types of CGD here suggests the presence of co-segregated genes for periodontitis; similar to the previously described co-segregation of a neutrophil abnormality trait with localized aggressive periodontitis [33,34]. Furthermore, periodontitis has been reported with several rare genetic syndromes such as leukocyte adhesion deficiency, Ehler - Danlos syndrome type 8, and Lowe syndrome indicating the variety of genes that can predispose to periodontal disease [35].…”

Section: Discussionsupporting

confidence: 82%

Orofacial findings in chronic granulomatous disease: report of twelve patients and review of the literature

et al. 2010

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BackgroundChronic granulomatous disease is an extremely rare primary immunodeficiency syndrome that can be associated with various oral complications. This can affect high number of patients. However, data on oral complications is sparse. Here we will review the literature and describe the orofacial findings in 12 patients.FindingsThe age range was 5-31 years. Oral findings were variable, and reflected a low level of oral hygiene. They included periodontitis, rampant caries, gingivitis, aphthous-like ulcers, and geographic tongue. One patient had white patches on the buccal mucosa similar to lichen planus. Another patient had a nodular dorsum of the tongue associated with fissured and geographic tongue. Biopsies from the latter two lesions revealed chronic non-specific mucositis. Panoramic radiographs showed extensive periodontitis in one patient and periapical lesions in another patient.ConclusionPatients with chronic granulomatous disease may develop oral lesions reflecting susceptibility to infections and inflammation. It is also possible that social and genetic factors may influence the development of this complication. Therefore, oral hygiene must be kept at an optimum level to prevent infections that can be difficult to manage.

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Section: Discussionsupporting

confidence: 82%

Orofacial findings in chronic granulomatous disease: report of twelve patients and review of the literature

et al. 2010

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“…LAP is a clinical and genetic heterogeneous group of periodontal disorders that can present with early periodontal disease accompanied by variable degree of neutrophil function abnormalities. Yet, the severe shin bruising observed in some members of this family is not seen in LAP and we have excluded chromosome 1q25, previously linked to LAP, 26 as a potential causal 27 We recently completed a genome-wide linkage scan in a different EDS VIII pedigree with a resulting linked region in chromosome 9. As yet, no gene mutation has been identified that could explain the phenotype.…”

Section: Discussionmentioning

confidence: 99%

Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

Reinstein

Delozier²,

Simon

et al. 2012

Eur J Hum Genet

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We would like to dedicate this article to the memory of David Rimoin, MD, PhD, who passed away on May 27, 2012. He was an outstanding geneticist, mentor, and human being.Ehlers-Danlos syndrome (EDS) type VIII (periodontitis type) is a distinct form of EDS characterized by periodontal disease leading to precocious dental loss and a spectrum of joint and skin manifestations. EDS type VIII is transmitted in an autosomal dominant pattern; however, the mutated gene has not been identified. There are insufficient data on the spectrum of clinical manifestations and natural history of the disorder, and only a limited number of patients and pedigrees with this condition have been reported. We present a four-generation EDS type VIII kindred and show that EDS VIII is clinically variable and although some cases lack the associated skin and joint manifestations, microscopic evidence of collagen disorganization is detectable. We further propose that the diagnosis of EDS type VIII should be considered in familial forms of periodontitis, even when the associated skin and joint manifestations are unconvincing for the diagnosis of a connective tissue disorder. This novel observation highlights the uncertainty of using connective tissue signs in clinical practice to diagnose EDS type VIII.

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“…A case-control genome wide association study suggested a role for GLT6D1 in aggressive periodontitis in Germans [15]. One linkage study in African American families [16] showed that aggressive periodontitis is linked to the marker D1S492, located on chromosome 1q. A susceptibility locus for aggressive periodontitis was determined between the markers D1S196 and D1S533.…”

Section: Introductionmentioning

confidence: 99%

FAM5C Contributes to Aggressive Periodontitis

et al. 2010

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Aggressive periodontitis is characterized by a rapid and severe periodontal destruction in young systemically healthy subjects. A greater prevalence is reported in Africans and African descendent groups than in Caucasians and Hispanics. We first fine mapped the interval 1q24.2 to 1q31.3 suggested as containing an aggressive periodontitis locus. Three hundred and eighty-nine subjects from 55 pedigrees were studied. Saliva samples were collected from all subjects, and DNA was extracted. Twenty-one single nucleotide polymorphisms were selected and analyzed by standard polymerase chain reaction using TaqMan chemistry. Non-parametric linkage and transmission distortion analyses were performed. Although linkage results were negative, statistically significant association between two markers, rs1935881 and rs1342913, in the FAM5C gene and aggressive periodontitis (p = 0.03) was found. Haplotype analysis showed an association between aggressive periodontitis and the haplotype A-G (rs1935881-rs1342913; p = 0.009). Sequence analysis of FAM5C coding regions did not disclose any mutations, but two variants in conserved intronic regions of FAM5C, rs57694932 and rs10494634, were found. However, these two variants are not associated with aggressive periodontitis. Secondly, we investigated the pattern of FAM5C expression in aggressive periodontitis lesions and its possible correlations with inflammatory/immunological factors and pathogens commonly associated with periodontal diseases. FAM5C mRNA expression was significantly higher in diseased versus healthy sites, and was found to be correlated to the IL-1β, IL-17A, IL-4 and RANKL mRNA levels. No correlations were found between FAM5C levels and the presence and load of red complex periodontopathogens or Aggregatibacter actinomycetemcomitans. This study provides evidence that FAM5C contributes to aggressive periodontitis.

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Localized aggressive periodontitis is linked to human chromosome 1q25

Cited by 51 publications

References 21 publications

Orofacial findings in chronic granulomatous disease: report of twelve patients and review of the literature

Orofacial findings in chronic granulomatous disease: report of twelve patients and review of the literature

Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

FAM5C Contributes to Aggressive Periodontitis

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