Complete physical mapping of IL6 reveals a new marker associated with chronic periodontitis.

BACKGROUND AND OBJECTIVE: Interleukin-6 (IL-6) is a powerful stimulator of osteoclast differentiation and bone resorption. Production of IL-6 is modulated by polymorphisms, and higher levels of this cytokine are found locally in patients with chronic periodontitis. In this study we performed a modern approach - Complete physical mapping of the IL6 gene - to identify the polymorphisms associated with chronic periodontitis in a southern Brazilian population sample. MATERIAL AND METHODS: One-hundred and nine individuals of both genders (mean age: 41.5 ± 8.5 years) were divided into a study group (56 participants with periodontitis) and a control group (53 individuals without periodontitis). After collection and purification of DNA, nine tag single nucleotide polymorphisms (SNPs; rs1524107, rs2069835, rs2069837, rs2069838, rs2069840, rs2069842, rs2069843, rs2069845 and rs2069849) covering the entire gene were selected according to the information available on the International HapMap Project website and evaluated using real-time PCR. RESULTS: Differences in the distribution of the following parameters were statistically significant between study and control groups: number of teeth (p = 0.030); probing depth (p < 0.001); clinical attachment level (p < 0.001); gingival index (p < 0.001); plaque index (p = 0.003); calculus index (p < 0.001); and dental mobility (p < 0.001). It was found that marker rs2069837 (located in intron 2 of IL6) under G dominant was associated with protection against chronic periodontitis in a Brazilian population in the presence of clinical variables, such as visible plaque, dentist visit frequency and dental floss use, and was suggested for the first time as a marker of susceptibility to chronic periodontitis. CONCLUSION: Complete physical mapping of IL6 (using tag SNPs) was carried out for the first time, unveiling allele G of polymorphism rs2069837 (located in the second intron of IL6) as a suggestive marker of protection against chronic periodontitis in a Brazilian population.

A major gene effect controls resistance to caries.

Despite recent advances revealing genetic factors influencing caries susceptibility, questions regarding the model of inheritance involved are yet to be addressed. We conducted a Complex Segregation Analysis on decayed teeth in a sample of homogenous, isolated families recruited from the Brazilian Amazon. A dominant, major gene effect controlling resistance to phenotype was detected. The frequency of the resistance allele "A" was 0.63; mean numbers of decayed teeth were 1.53 and 9.53 for genotypes AA/AB and BB, respectively. These results represent a step toward a description of the exact nature of the genetic risk factors controlling human susceptibility to caries.

A critical review: an overview of genetic influence on dental caries.

Dental decay is a complex, chronic disease and one of the most common illnesses in dentistry today. Several dental decay risk factors have been identified during the last years; however, these variables alone may not entirely explain the disease development. Genetic research applied to dental decay began in the 1930s with experimental reports in animals and human observational research. Only recently, have some studies begun to search for genetic polymorphisms in humans and apply linkage analysis. However, due to the complex characteristics of the disease, the strong influence from several biological and environmental factors, and the small number of genetic studies related to dental caries, the genetic basis still requires further study. Therefore, the aim of this review is to provide a brief description of the current methodology for genetic analysis of complex traits, followed by a comprehensive evaluation of the literature related to genetic susceptibility/resistance to dental decay and a discussion of different aspects of the applied methodology. Advances towards the elucidation of the dental decay genetic basis may contribute to the understanding of the disease etiopathogenesis and to the identification of high risk groups, thus providing potential targets for effective screening, prevention and treatment.

[Questionnaire for patients with ischaemic cardiopathy on their reaction to various alarm symptoms]. / Encuesta a los pacientes con cardiopatía isquémica sobre el modo de actuación ante los distintos síntomas de alarma.

OBJECTIVES: To find the degree of information that patients with ischaemic cardiopathy (IC) possess and their behaviour on alarm symptoms (thoracic pain of ischaemic profile under stress, at rest, worsening under stress and for over 20'), how they manage sub-lingual nitro-glycerine (SLNTG), and the source of their information. DESIGN: Transversal descriptive study based on personal interview and our own questionnaire, from September to December 2001. SETTING: Primary Care. Six clinics in three urban Health Areas.Participants. Randomised sample of 98 patients with IC (stable angina, unstable angina, angina with infarct). MEASUREMENTS AND RESULTS: 93 people (57 male, 36 women) were surveyed. Their average age was 71 19.34 had diagnosis of infarct. 17.2% (95% CI, 9.5%24.9%) had no SLNTG available. 78.5% (95% CI; 70.2%-86.8%) and 81.7% (95% CI; 73.8%-89.6%) of those with angina under stress or at rest, respectively, did not know when to attend the hospital Emergency department. 37.8% (95% CI, 26.8%-48.8%) with steady stress angina would attend a hospital or their doctor urgently. 100% of patients had received no information on angina at rest, under steady stress and for over 20'. There was no difference in behaviour before stress angina between patients who had been informed by Primary Care and those informed by Specialists. There was a difference, though, for good use of SLNTG between infarct and non-infarct patients (p = 0.003). CONCLUSIONS: Our cardiopaths do not recognise alarm signals quickly; and so do not benefit as well as they might from hospital treatment. No doctor (Primary Care or specialist) informed them of the different ways to confront stable and unstable angina. Only a very small number used SLNTG in stress angina properly and knew when to attend Casualty. There is an urgent need to improve the health education of our cardiopaths.

Encuesta a los pacientes con cardiopatía isquémica sobre el modo de actuación ante los distintos síntomas de alarma / Questionnaire for patients with ischaemic cardiopathy on their reaction to various alarm symptoms

Objetivo. Conocer el grado de información que tienen los pacientes con cardiopatía isquémica (CI) y su actuación ante situaciones de alarma (dolor torácico de perfil isquémico en esfuerzo, en reposo, agravamiento en esfuerzo, de más de 20 min), el manejo que hacen de la nitroglicerina sublingual (NTGSL) y la fuente de dicha información. Diseño. Estudio descriptivo transversal basado en entrevista personal y cuestionario de elaboración propia, durante septiembre-diciembre de 2001.Emplazamiento. Atención primaria. Seis consultas de tres zonas básicas de salud urbanas. Participantes. Muestra aleatoria de 98 pacientes con CI (angina estable, inestable, angina con infarto).Mediciones y resultados. Encuestados: 93 (57 varones, 36 nujeres). Edad media: 71 ñ 19.Con diagnóstico de infarto: 34. No disponen de NTGSL el 17,2 por ciento (IC del 95 por ciento: 9,5-24,9 por ciento). Desconocen cuándo acudir a urgencias hospitalarias con angina de esfuerzo y reposo el 78,5 por ciento (IC del 95 por ciento: 70,2-86,8 por ciento) y el 81,7 por ciento (IC del 95 por ciento: 73,8-89,6 por ciento), respectivamente. El 37,8 por ciento (IC del 95 por ciento: 26,848,8 por ciento) con angina de esfuerzo progresiva acudiría urgentemente a su médico o al hospital. No recibió información ante angina de reposo, esfuerzo progresivo y de más de 20 min el 100 por ciento de los pacientes. No existe diferencia sobre la actuación ante angina de esfuerzo entre pacientes informados por primaria o especializada, sí en el buen uso de NTGSL entre infartados y no infartados (p = 0,003).Conclusiones. Nuestros cardiópatas no reconocen con prontitud los síntomas de alarma; por tanto, no obtienen el máximo beneficio del tratamiento hospitalario. Ningún médico (primaria, especializada) les informó de la diferente actuación ante angina estable e inestable. Sólo una mínima parte usa bien la NTGSL en angina de esfuerzo y saben cuándo acudir a urgencias. Inminente necesidad de mejorar la educación sanitaria de nuestros cardiópatas (AU)

Segregation of HLA/TNF region is linked to leprosy clinical spectrum in families displaying mixed leprosy subtypes.

Each year an estimated 600000 new leprosy cases are diagnosed worldwide. The spectrum of the disease varies widely from limited tuberculoid forms to extensive lepromatous forms. A measure of the risk to develop lepromatous forms of leprosy is provided by the extent of skin reactivity to lepromin (Mitsuda reaction). To address a postulated oligogenic control of leprosy pathogenesis, we investigated in the present study linkage of leprosy susceptibility, leprosy clinical subtypes, and extent of the Mitsuda reaction to six chromosomal regions carrying known or suspected leprosy susceptibility loci. The only significant result obtained was linkage of leprosy clinical subtype to the HLA/TNF region on human chromosome 6p21 (P(corrected)=0.00126). In addition, we established that within the same family different HLA/TNF haplotypes segregate into patients with different leprosy subtypes directly demonstrating the importance of this genome region for the control of clinical leprosy presentation.

Segregation of HLA/TNF region is linked to leprosy clinical spectrum in families displaying mixed leprosy subtypes

Each year an estimated 600000 new leprosy cases are diagnosed worldwide. The spectrum of the disease varies widely from limited tuberculoid forms to extensive lepromatous forms. A measure of the risk to develop lepromatous forms of leprosy is provided by the extent of skin reactivity to lepromin (Mitsuda reaction). To address a postulated oligogenic control of leprosy pathogenesis, we investigated in the present study linkage of leprosy susceptibility, leprosy clinical subtypes, and extent of the Mitsuda reaction to six chromosomal regions carrying known or suspected leprosy susceptibility loci. The only significant result obtained was linkage of leprosy clinical subtype to the HLA/TNF region on human chromosome 6p21 (P(corrected)=0.00126). In addition, we established that within the same family different HLA/TNF haplotypes segregate into patients with different leprosy subtypes directly demonstrating the importance of this genome region for the control of clinical leprosy presentation.