Balkan Journal of Medical Genetics

SINGLE NUCLEOTIDE POLYMORPHISMS IN IL-1A RS1800587, IL-1B RS1143634 AND VITAMIN D RECEPTOR RS731236 IN STAGE III GRADE B/C PERIODONTITIS
Özturk Özener H.1, Tacal Aslan B.2, Eken B.F.2, Agrali Ö.B.1, Yildrim H.S.1, Altunok E.Ç.3, Ulucan K.2, Kuru L.1
*Corresponding Author: Assist. Prof. Dr. Hafize Öztürk Özener, Address: Marmara University, Faculty of Dentistry, Department of Periodontology Basıbuyuk, Maltepe, Istanbul, Turkey. Fax number: +90 216 421 02 21; E-mail: hafize.ozturk@marmara.edu.tr
page: 10

INTRODUCTION

As a chronic multifactorial infectious disease, periodontitis has been defined as one of the main public health problems with its high prevalence and it has been shown to lead to disability and tooth loss, impairment on aesthetic and chewing function, a presumed negative effect on general health, social inequality, and impaired quality of life [1]. It is described as microbially originated, host mediated inflammation resulting in periodontal attachment loss and, ultimately, tooth loss [2]. The etiopathogenetic mechanisms of periodontitis have not been completely discovered. Although the primary etiology of the disease is the pathogenic anaerobic bacteria found in the subgingival dental plaque; it has been shown that host susceptibility and the genetic background of individuals play substantial roles in the onset and development of the disease, in particular, with a subset of genes predominantly believed to be part of the pathological processes [3]. Researchers have completed studies on genetic association regarding the polymorphism analysis to further clarify the role of each of these genes. Polymorphisms may play a part in the presentation and/or outcome of diseases. This can also be done through conferring a degree of risk or protection from the disease. Gene polymorphism, namely interleukin (IL)-1, is the most pronounced gene polymorphism studied in patients with periodontal diseases [4]. IL-1A and IL-1B, as members of IL-1 family, are the proinflammatory cytokines that are expressed in response to cell damage and impact cell differentiation, proliferation, and apoptosis [5]. Particularly, single nucleotide polymorphism (SNP) in position IL-1A −889 and in position IL-1B +3953 (also known as +3954) are the most investigated SNPs. In 1997, Kornman et al. [6] reported on the simultaneous presence of both IL-1A −899 and IL-1B +3953 minor alleles, known as “composite genotype”, and an elevated severity of chronic periodontitis in a subset of non‐smoker Caucasian subjects. According to the findings of a meta-analysis, comprised of 27 studies published from 1997 to 2008, 19 of these studies found a correlation between the carriage of minor IL‐1 alleles and periodontitis [7]. Controversial findings have also been reported in studies where no association has been found between rs1143634 and rs1800587 gene polymorphisms and chronic and/or aggressive periodontitis [8-12]. Da Silva et al. [13] reported a meta-analysis from 21 case-control research studies, published between 1998-2015, and uncovered an association between periodontitis and rs1800587. Another meta-analysis of 54 case/control studies, containing 9376 subjects, showed that rs1143634 polymorphism was linked to a high risk of chronic periodontitis in both the overall analysis and different ethnicities, such as Asian and Caucasian [14]. The vitamin D receptor (VDR) is present in many cells of the immune system, such as in monocytes and dendritic cells, as well as in bone cells such as osteoblasts [15] and osteoclasts. Beyond its established function in bone homeostasis, vitamin D also has significant anti-inflammatory and immunomodulatory properties [16]. Genetic polymorphisms in the VDR gene have been shown to be linked to bone mineral density and also bone-associated diseases [17,18]. Results of studies examining the association between periodontitis and VDR gene polymorphisms at the ApaI, BsmI, FokI, and TaqI restriction sites or their combinations are somewhat controversial [19, 20], and it is not clear which of the VDR polymorphisms are effective in periodontal disease susceptibility. A meta-analysis involving 15 studies, reported that VDR TaqI, ApaI and BsmI gene polymorphisms were associated with chronic periodontitis in Asians, yet not in Caucasians, whereas there was no relationship between chronic periodontitis and FokI polymorphism [21]. However, another metaanalysis of 18 studies concluded that chronic periodontitis linked to only TaqI polymorphism in Asians [22]. A more recent meta-analysis concluded that no significant associations were present between TaqI polymorphism and chronic periodontitis in Caucasian, Asian, African and mixed populations [23]. Until now, the effects of the genetic factor on different forms of periodontal disease have been investigated in several studies, whereas the results obtained by different researchers vary. This study hypothesized that IL-1A (rs1800587), IL-1B (rs1143634) and VDR (rs731236) gene polymorphisms may confer susceptibility to periodontitis. Thus, the purpose of the present study was to determine the frequencies of IL-1A (rs1800587), IL-1B (rs1143634) and VDR (TaqI, rs731236) gene polymorphisms in Stage III Grade B/C periodontitis patients in the Turkish population.

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