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Objective: Premolar agenesis is a common subtype of tooth agenesis. Although a genome‐wide study (GWAS) has identified some variants involved in tooth agenesis in Europeans, the genetic mutation related to premolar agenesis in the Chinese population remains unclear. Materials and methods: We present a GWAS in 218 premolar agenesis cases and 1,222 controls using the Illumina Infinium® Global Screening Array. 5,585,618 single nucleotide polymorphisms (SNPs) were used for tests of associations with premolar agenesis. Results: Four independent SNPs on chromosome 2 were identified as susceptibility loci, including rs147680216, rs79743039, rs60540881, and rs6738629. The genome‐wide significant SNP rs147680216 (p = 6.09 × 10−9) was predicted to change the structure of the WNT10A protein and interact with hedgehog signaling pathway components. Meta‐analysis showed that the rs147680216 A allele significantly increased the risk of tooth agenesis (p = 0.000). The other three SNPs with nominal significance are novel susceptibility loci. Of them, rs6738629 (p = 5.40 × 10−6) acts as a potential transcriptional regulator of GCC2, a gene playing a putative role in dental and craniofacial development. Conclusion: Our GWAS indicates that rs147680216 and additional three novel susceptibility loci on chromosome 2 are associated with the risk of premolar agenesis in the Chinese population. [ABSTRACT FROM AUTHOR]

Background: Non‐syndromic supernumerary teeth (NSST) or hyperdontia may share common genetic determinants with non‐syndromic cleft lip with or without palate (NSCL/P). The aim of this study was to test the associations between five genome‐wide‐associated NSCL/P‐susceptible single nucleotide polymorphisms (SNPs) (rs2235371, rs7078160, rs8049367, rs4791774, and rs13041247) and the occurrence of NSST. Materials and methods: A total of 163 cases and 326 controls were recruited and their genomic DNA was extracted from blood samples. Five NSCL/P‐susceptible SNPs (rs2235371, rs7078160, rs8049367, rs4791774, and rs13041247) were genotyped by TaqMan method. Odds ratio (OR) and 95% confidence interval (CI) were used to estimate the associations between the SNPs and the risk of NSST by PLINK software. Results: Rs4791774 (A > G) and rs13041247 (T > C) were associated with risk of NSST (rs4791774: Padd = 0.011, OR, 95% CI = 0.62, 0.43–0.90; rs13041247: Phomo = 0.031, OR, 95% CI = 1.79, 1.05–3.05) and one supernumerary tooth (rs4791774: Pdom = 0.009, OR, 95% CI = 0.56, 0.36–0.87; rs13041247: Phomo = 0.034, OR, 95% CI = 1.82, 1.05–3.15). Rs4791774 (A > G) was also showed association with risk of upper arch supernumerary teeth only (Padd = 0.010, OR, 95% CI = 0.60, 0.41–0.89). Conclusion: Non‐syndromic cleft lip with or without palate‐susceptible loci rs4791774 (A > G) and rs13041247 (T > C) were associated with the risk of supernumerary teeth. [ABSTRACT FROM AUTHOR]

Objective: Non‐syndromic tooth agenesis (NSTA) may share common genetic factors with non‐syndromic cleft lip with or without cleft palate (NSCL/P). Single‐nucleotide polymorphisms (SNPs) were associated with individual's susceptibility to these anomalies. We selected five NSCL/P‐associated SNPs from our previous genome‐wide association study (GWAS) to test for the associations with NSTA. Materials and methods: A total of 677 NSTA cases and 1,144 healthy controls were recruited in this case–control study. Five genome‐wide NSCL/P‐associated SNPs (rs2235371, rs7078160, rs8049367, rs4791774, and rs13041247) were genotyped by TaqMan platform and evaluated for the associations with NSTA using plink software. Results: No significant associations between these SNPs and risk of NSTA were observed in the overall analysis and subgroup analysis with the number of missing teeth. However, in the subgroup analysis by tooth position, rs8049367 was nominally associated with mandibular premolar agenesis (Dominant model: ORdom = 0.66, 95% CIdom = 0.47–0.93, pdom = 0.016; Heterozygote model: ORhet = 0.60, 95% CIhet = 0.41–0.88, Phet = 0.008). Rs4791774 showed a nominal association with congenitally missing maxillary canine (Dominant model: ORdom = 0.53, 95% CIdom = 0.28–0.98, pdom = 0.041; Heterozygote model: ORhet = 0.50, 95% CIhet = 0.26–0.97, Phet = 0.041) and premolar (Additive model: OR = 0.59, 95% CI = 0.36–0.96, p = 0.035). Conclusion: This study showed that NSCL/P susceptible loci rs8049367 and rs4791774 were probably associated with the risk of NSTA. [ABSTRACT FROM AUTHOR]

Objective: To investigate the relationship between microsatellite polymorphism in the Heme oxygenase-1 (HMOX1) gene promoter and high-altitude pulmonary edema (HAPE) in Han Chinese.Methods: Eighty-three construction workers who developed HAPE 2 to 7 days after arrival at Yushu (3800 m) in Qinghai, China, and 145 matched healthy subjects were included in this study. The amplification and labeling of the polymerase chain reaction products for capillary electrophoresis were performed to identify HMOX1 genotype frequency. The alleles were classified as short (S: <25 [GT]n repeats) and long (L: ≥25 [GT]n repeats) alleles.Results: Patients with HAPE have significantly higher white blood cell count, heart rate, and mean pulmonary artery pressure, but lower hemoglobin and arterial oxygen saturation than healthy subjects without HAPE. The numbers of (GT)n repeats in the HMOX1 gene promoter show a bimodal distribution. However, there is no significant difference in the genotype frequency and allele frequency between patients with HAPE and healthy subjects without HAPE. Chi-square test analysis reveals that the genotype frequency of (GT)n repeats is not associated with HAPE.Conclusion: The microsatellite polymorphism in the HMOX1 gene promoter is not associated with HAPE in Han Chinese in Qinghai, China. [ABSTRACT FROM AUTHOR]

Genetic polymorphisms may affect human male fertility. Even though TP53 plays a role in spermatogenesis we know little about the association of the functional polymorphism at codon 72 of TP53 with respect to susceptibility to male infertility. We conducted a case-control study to investigate this association in a Chinese population and performed a meta-analysis in different populations to clarify this association. The single nucleotide polymorphism (SNP) of TP53 codon 72 (rs1042522 G>C) was genotyped by PCR-RFLP in 83 Chinese male infertility patients and 401 healthy controls. Meta-analysis was performed using the data from four currently available studies. The data from our study were overlayed using the v.9.0 STATA software package. We observed no association between the TP53 codon 72 polymorphism and male infertility ( p = 0.84, OR = 1.04, 95% CI, 0.74-1.45). Meta-analysis confirmed the case-control result that there was no significant association between the codon 72 polymorphism of TP53 and male infertility (Pro vs. Arg; p = 0.31, OR = 0.86, 95% CI, 0.65-1.15; Pro/Pro vs. Arg-carriers; p = 0.65, OR = 0.91, 95% CI, 0.61-1.36; Pro-carriers vs. Arg/Arg: p = 0.15, OR = 0.75, 95% CI, 0.51-1.11). The data presented in this communication supports the view that the codon 72 polymorphism of TP53 may not contribute to male infertility susceptibility in the Chinese population. [ABSTRACT FROM AUTHOR]

Inflammation plays important roles in the development of atherosclerosis and coronary artery disease (CAD). Interleukin-2 (IL-2) is a proinflammatory cytokine and induces proliferation of T cells. The aim of the study was to understand the effect of IL-2 on the development of CAD from genetic polymorphism perspective and serum level perspective. IL-2 −330T/G and +114T/G polymorphisms were tested in 692 CAD cases and 723 healthy controls. IL-2 expression of these two polymorphisms was compared. Serum level of IL-2 in CAD patients and controls was analyzed. Data showed that prevalence of IL-2 −330GG genotype was significantly increased in CAD than in controls ( p = 5.1 × 10). Function analysis revealed that subjects carrying IL-2 −330GG genotype had higher serum level of IL-2 than those with TG or TT genotypes ( p < 0.01). Serum level of IL-2 in the study subjects was further analyzed, and results showed that CAD patients had significantly increased IL-2 level than healthy controls ( p < 0.01). Also, cases with three vessels affected were observed to have higher IL-2 level than cases with one vessel affected ( p < 0.05). These data suggested IL-2 polymorphism could affect the susceptibility to CAD by elevating protein expression, and serum level of IL-2 may be closed correlated with the development and progression of this disease. [ABSTRACT FROM AUTHOR]

Objective: The purpose of this study was to test the hypothesis that polymorphisms in the endothelial PAS domain protein 1 (EPAS1) gene are associated with the susceptibility to high altitude pulmonary edema (HAPE) in Han Chinese. Methods: This study enrolled 153 HAPE patients (HAPE-p), matched with Han Chinese resistant to HAPE (HAPE-r) and local highland Tibetans from Yushu earthquake construction population in Qinghai where the altitude is more than 3500 m above sea level. The polymorphism of EPAS1 chr2:46441523(hg18) was genotyped by polymerase chain reaction restriction fragment length polymorphism and confirmed by DNA sequencing. Results: The frequencies of EPAS1 chr2:46441523(hg18) polymorphism C allele were significantly higher in the HAPE-p group than in the HAPE-r group (P < .001), but the frequencies of heterozygous C/G were significantly higher in the HAPE-r group than in the HAPE-p group (P < .001). Moreover, the frequencies of the EPAS1 chr2:46441523(hg18) polymorphism G allele were significantly higher in the highland Tibetan group than in the HAPE-p and HAPE-r groups. Conclusions: The EPAS1 chr2:46441523(hg18) polymorphism C is strongly associated with susceptibility to HAPE in Han Chinese, and the EPAS1 chr2:46441523(hg18) polymorphism G is present at high frequency and may be associated with high altitude adaptation in the Tibetans. [Copyright &y& Elsevier]

T cell immunoglobulin- and mucin-domain-containing molecule 3 (TIM-3) has been established as a negative regulatory molecule and plays a critical role in inflammatory diseases such as rheumatoid arthritis, hepatitis B and C, and human immunodeficiency virus (HIV)-related inflammation. Recent studies have shown that chronic inflammation may greatly affect the pathogenesis of non-Hodgkin lymphomas (NHL). The aim of this study was to investigate whether polymorphisms in the TIM-3 gene were associated with susceptibility to non-NHL and HIV-related NHL. Three polymorphisms in TIM-3 gene (−1516G/T, −574G/T, and +4259T/G) were identified by polymerase chain reaction-restriction fragment length polymorphism in 434 NHL patients, 62 HIV-related NHL cases, and 512 healthy controls. Results showed that the prevalence of −574GT genotype and +4259TG genotype were significantly increased in the NHL cases than in controls (odds ratio (OR) = 2.72, 95 % confidence interval (CI) = 1.50-4.92, p = 0.0006 and OR = 2.59, 95 % CI = 1.49-4.49, p = 0.0005, respectively). The −1516G/T polymorphism did not reveal significant difference between patients and healthy controls. When analyzing the TIM-3 polymorphisms in HIV-related NHL patients, data showed that HIV+ NHL patients had higher prevalence of −574GT or +4259TG genotypes than those cases without HIV infection (OR = 3.48, 95 % CI = 1.67-7.28, p = 0.0005 and OR = 2.92, 95 % CI = 1.42-6.01, p = 0.0026, respectively). These results suggested polymorphisms in TIM-3 gene could be new risk factors for NHL as well as HIV-related NHL and suggested a possible role of the inflammatory factor in these diseases. [ABSTRACT FROM AUTHOR]

MicroRNAs (miRNAs) are a family of endogenous, small, noncoding RNA molecules that involved in a wide range of biological processes including differentiation, proliferation, and apoptosis. A polymorphism G>C (rs2910164) is located in the stem region opposite to the mature miR-146a sequence. In our study, we investigated whether rs2910164 is associated with the risk of colorectal cancer (CRC) in a Chinese population. We genotyped the rs2910164 polymorphism using TaqMan method and evaluated the association with CRC risk in a case-control study, including 1,147 CRC patients and 1,203 cancer-free controls. Logistic regression models were used to assess the genetic effects on the development of CRC. Overall, we found that rs2910164 was significantly associated with the reduced CRC risk [GC/CC versus GG: adjusted odds ratio (OR) = 0.78, 95 % confidence intervals (CIs) = 0.66-0.93]. In the stratification analysis, this decreased risk was also pronounced among non-smokers (0.75, 0.61-0.93), non-drinkers (0.77, 0.63-0.94), and no family history of cancer (0.79, 0.65-0.95). Furthermore, GC/CC genotypes were associated with reduced CRC susceptibility in intermediate differentiated CRC (0.75, 0.62-0.90), and similar effect was observed in patients with the advanced stage tumor (Dukes C and D) (0.76, 0.61-0.93). In conclusion, our results suggest that miR-146a rs2910164 may contribute to the susceptibility to CRC in a Chinese population. Further larger population-based prospective and functional studies are needed to validate our findings. [ABSTRACT FROM AUTHOR]

Background: Matrix metalloproteinase-1 (MMP-1) plays an important role during the destruction of periodontal tissue. Although multiple studies had focused on the association between MMP-1 g.-1607dupG and periodontitis susceptibility, the results remained inconclusive. The purpose of this meta-analysis was to explore its role in the development of periodontitis. Methods: Retrieved studies from Pubmed, Web of Science, Medline and Google Scholar Search regarding MMP-1 g.-1607dupG and periodontitis susceptibility were included into the final analysis with definite selection and exclusion criteria. Overall and stratified analyses based on disease type, severity, ethnicity and smoking status were performed. Odds ratio (OR) and 95% confidence interval (CI) were used to evaluate the association between MMP-1 g.-1607dupG and periodontitis susceptibility, while Q test and Egger’s test were adopted respectively to assess heterogeneity among studies and publication bias. Results: A total of 1580 periodontitis cases and 1386 controls in 11 case-control studies were included in the meta-analysis. The pooled results showed significant association between periodontitis susceptibility and MMP-1 g.-1607dupG polymorphism in homozygote (2G/2G versus 1G/1G, OR = 1.50, 95% CI = 1.02–2.20) and dominant model analysis (2G/2G+2G/1G versus 1G/1G, OR = 1.28, 95% CI = 1.04–1.57). For subgroups by type of periodontitis, increased risk of chronic periodontitis was observed on heterozygote (2G/1G versus 1G/1G, OR = 2.01, 95% CI = 1.58–2.56) and dominant model (OR = 1.27, 95% CI = 1.03–1.57). Furthermore, similar association was also detected in severe chronic periodontitis (2G/2G versus 1G/1G, OR = 2.15, 95% CI = 1.35–3.43; 2G/2G+2G/1G versus 1G/1G, OR = 1.64, 95% CI = 1.12–2.39; 2G/2G versus 2G/1G+1G/1G, OR = 1.86, 95% CI = 1.31–2.64). Conclusions: Our meta-analysis demonstrated that MMP-1 g.-1607dupG polymorphism was associated with chronic periodontitis, especially the severity of the disease condition. [ABSTRACT FROM AUTHOR]

Much evidence show that over-expression of epidermal growth factor receptor (EGFR) plays an important role in regulating carcinogenesis. Genetic variations in 3′ untranslated region (3′UTR) of gene have been reported to affect gene expression by interfering with microRNAs (miRNAs), which are thought to function as either tumour suppressors or oncogenes by binding to their target mRNA. In this study, we investigated the association between the EGFR 3′UTR 774T>C polymorphism and bladder cancer risk. We used the TaqMan technology to genotype this genetic variant in a hospital-based case–control study of 908 bladder cancer patients and 1239 controls in a Chinese population. We found that the 774CC genotype was associated with a statistically significantly increased risk of bladder cancer [adjusted odds ratio = 1.29, 95% confidence interval = 1.05–1.58], compared with the 774TT/TC genotype, and this increased risk was more pronounced among subgroups of age > 65 years, non-smokers and patients’ tumour invasive stage. Furthermore, luciferase assays in T24 cell showed that EGFR 3′UTR 774 T to C substitution could increase the expression of EGFR, which was consistent with the association study finding. Additionally, we also provide evidence that 774T>C polymorphism increasing EGFR expression was not regulated by hsa-miR-214 binding. These findings suggested that EGFR 3′UTR 774T>C polymorphism may contribute to susceptibility to bladder cancer. [ABSTRACT FROM PUBLISHER]

Purpose: Prostate stem cell antigen (PSCA) is a glycosylphosphatidylinositol-anchored 123-aa protein related to the cell-proliferation inhibition and/or cell-death induction activity. Many studies had reported the role of PSCA rs2294008 C > T and rs2976392 G > A polymorphisms on gastric cancer risk. Methods: To investigate a more precise estimation of the relationships, we performed a meta-analysis on 9 case-control studies included 10,746 cases and 9,158 controls. Odds ratios (ORs) and 95 % confidence intervals (CIs) were used to assess the strength of the association. Results: For PSCA rs2294008 C > T polymorphism, there was a significantly increased risk of gastric cancer in all genetic models (TT/TC vs. CC: OR = 1.61, 95 % CI = 1.35-1.91; TT vs. TC/CC: OR = 1.33, 95 % CI = 1.24-1.42). Similar results were also observed for PSCA rs2976392 G > A polymorphism (AA/AG vs. GG: OR = 1.69, 95 % CI = 1.24-2.31; AA vs. AG/GG: OR = 1.36, 95 % CI = 1.24-1.50). In the stratified analysis by ethnicity of rs2294008, an increased gastric cancer risk was found in both Asians (TT vs. TC/CC: OR = 1.31, 95 % CI = 1.22-1.42) and Europeans (TT/TC vs. CC: OR = 1.42, 95 % CI = 1.18-1.71). Furthermore, when stratified by clinicopathologic characteristics of tumor location and histology, a higher risk on non-cardia compared with cardia gastric cancer (TT vs. TC/CC: OR = 1.43, 95 % CI = 1.12-1.83) as same as diffused compared with intestinal gastric cancer (TT vs. TC/CC: OR = 1.29, 95 % CI = 1.13-1.49) was observed. Conclusion: These findings supported that PSCA rs2294008 C > T and rs2976392 G > A polymorphisms may contribute to the susceptibility to gastric cancer, particular in non-cardia or diffused gastric cancer. [ABSTRACT FROM AUTHOR]

Fibroblast growth factors (FGFs) and their receptors (FGFRs) play crucial roles in vascular smooth muscle cell proliferation and atherosclerosis and, therefore, may potentially affect the development of coronary artery disease (CAD). FGFR4 rs351855 (Gly388Arg) polymorphism has shown to be a risk factor for many diseases. The aim of this study was to investigate the association between FGFR4 polymorphisms and the susceptibility to CAD in the Chinese population. Two polymorphisms, rs351855 (Gly388Arg) and rs641101, were detected by polymerase chain reaction-restriction fragment length polymorphism and direct sequencing in 687 CAD cases and 732 age-matched controls. Data were analyzed using the chi-square test. Results showed that frequencies of GA genotype, AA genotype, and A allele in rs351855 (Gly388Arg) polymorphism were significantly lower in CAD patients than in controls (odds ratio (OR)=0.78, 95% confidence intervals (CIs): 0.62-0.98, p=0.034; OR=0.58, 95% CI: 0.42-0.80, p=0.001; and OR=0.77, 95% CI: 0.66-0.90, p=0.001, respectively). The rs641101 polymorphism did not show any correlation with CAD. Haplotype analysis revealed that rs351855 and rs641101 AG haplotype also had lower frequency in CAD patients (OR=0.79, 95% CI: 0.67-0.92, p=0.002). Our data suggested that the FGFR4 rs351855 (Gly388Arg) polymorphism and AG haplotype (rs351855 and rs641101) could act as protective factors against CAD in the Chinese population and indicated that a single gene polymorphism could have diverse functions in different diseases. [ABSTRACT FROM AUTHOR]

Single-nucleotide polymorphisms in microRNAs (miRNAs) may alter miRNA expression levels or processing and, thus, may contribute to cancer development. We hypothesized that miRNA-196a2 polymorphism is associated with risk of colorectal cancer (CRC). In a case-control study of 573 patients with CRC and 588 cancer-free controls frequency matched by age and sex, we genotyped the functional polymorphism rs11614913 (T>C) and assessed its association with the risk of CRC in a Chinese population. We found that the CT/CC genotypes were associated with a significantly increased risk of CRC (odds ratio [OR]=1.44, 95% confidence interval [CI]=1.10-1.88), compared with the TT genotype. Further, the polymorphism was significantly associated with the risk of patients with advanced stage tumor (Dukes C and D) (OR=1.65, 95% CI=1.11-2.46). Our results suggest that the functional polymorphism rs11614913 in miRNA-196a2 is involved in the etiology of CRC and, thus, may be a marker for genetic susceptibility to CRC. [ABSTRACT FROM AUTHOR]

Lysyl oxidase (LOX) plays a crucial role in the maintenance of extracellular matrix stability and could participate in vascular remodeling associated with cardiovascular diseases. A novel polymorphism in the LOX gene, G473A (rs1800449), was identified. The objective of this study was to investigate the association between LOX G473A polymorphism and susceptibility to coronary artery diseases (CADs) in Chinese population. The LOX variant G473A was detected by polymerase chain reaction-restriction fragment length polymorphism in 656 CAD cases and 718 age-matched controls. Frequencies of LOX 473 AA genotype and A allele were significantly higher in patients with CAD than in controls (odds ratio = 1.93, 95% confidence interval 1.26-2.95, p = 0.002; and odds ratio = 1.38, 95% confidence interval 1.15-1.67, p = 0.001). Our data suggest that the G473A polymorphism of LOX gene is associated with increased susceptibility to CAD. [ABSTRACT FROM AUTHOR]

Background: MicroRNAs (miRNAs) are a family of endogenous, small and noncoding RNAs that negatively regulate gene expression by suppressing translation or degrading mRNAs. Recently, many studies investigated the association between hsa-miR-196a2 rs11614913 polymorphism and cancer risk, which showed inconclusive results. Methodology/Principal Findings: We conducted a meta-analysis of 15 studies that included 9,341 cancer cases and 10,569 case-free controls. We assessed the strength of the association, using odds ratios (ORs) with 95% confidence intervals (CIs). Overall, individuals with the TC/CC genotypes were associated with higher cancer risk than those with the TT genotype (OR = 1.18, 95% CI = 1.03-1.34, P<0.001 for heterogeneity test). In the stratified analyses, we observed that the CC genotype might modulate breast cancer risk (OR = 1.11, 95%CI = 1.01-1.23, Pheterogeneity = 0.210) and lung cancer risk (OR = 1.25, 95%CI = 1.06-1.46, Pheterogeneity = 0.958), comparing with the TC/TT genotype. Moreover, a significantly increased risk was found among Asian populations in a dominant model (TC/CC versus TT, OR = 1.24, 95% CI = 1.07-1.43, Pheterogeneity = 0.006). Conclusions: These findings supported that hsa-miR-196a2 rs11614913 polymorphism may contribute to the susceptibility of cancers. [ABSTRACT FROM AUTHOR]

Tibetans adapt to high altitude environments through low blood hemoglobin concentrations. Previous work has identified that CYP17A1 and CYP2E1 genes exhibit evidence of local positive selection for this Tibetan high-altitude adaptation. Nevertheless, despite this apparent genetic advantage, some Tibetans still develop high altitude polycythemia (HAPC) yet the reasons for this remain unknown. We sought to determine if polymorphisms in CYP17A1 and CYP2E1 genes were associated with susceptibility to HAPC in Tibetans at the Qinghai-Tibetan Plateau in China. We enrolled 63 Tibetan HAPC patients and 131 healthy, age- and gender-matched control Tibetans. All subjects are from the Yushu area of Qinghai where the altitude is over 3500 m. Three SNPs of the CYP17A1 including rs3781287, rs11191548 and rs1004467, and four SNPs of CYP2E1 gene, including rs1536836, rs3813865, rs3813867 and rs743535, were genotyped by the Sequenom MassARRAY SNP assays. We discovered that SNP rs1004467 of the CYP17A1 gene and SNP rs3813865 of the CYP2E1 gene were significantly associated with HAPC risk. Furthermore, we identified a positive correlation between these two SNPs and plasma hemoglobin levels. Thus, taken together, our study is the first to our knowledge to show that polymorphisms in the rs1004467 SNP of CYP17A1 and rs3813865 SNP of CYP2E1 correlate with susceptibility to HAPC. [ABSTRACT FROM AUTHOR]

Highlights: [•] CD4+ T cells, CD8+ T cells, monocytes and NK T cells can express SDF-1. [•] Rs1801157AA genotype can increase SDF-1 expression in monocytes. [•] Blocking CD14 completely inhibits the function of the rs1801157 SNP in monocytes. [•] The rs1801157 SNP is associated with increased susceptibility to CAD. [•] The rs1801157 SNP is further correlated with CAD cases with STEMI. [ABSTRACT FROM AUTHOR]

• Exploring the role of microRNA variants with the risk of non-syndromic supernumerary teeth. • Providing genetics guidance for genetic counseling and prenatal diagnosis of non-syndromic supernumerary teeth. • Cone beam computed tomography was used for disgnosis of non-syndromic supernumerary teeth. Non-syndromic supernumerary teeth (NSST) are a common type of dental anomaly. microRNAs (miRNAs) play an important role in craniofacial and tooth development. Therefore, we hypothesized that single nucleotide polymorphisms (SNPs) of miRNAs may be associated with the susceptibility of NSST. Four miRNA SNPs (rs2910164, rs11614913, rs2043556, and rs2682818) were selected, and their associations with NSST susceptibility were evaluated in a case-control study (163 NSST patients and 326 healthy controls). rs2910164 was significantly associated with a risk of lower NSST (additive model: OR = 4.00, 95 % CI = 1.76–9.09, P = 0.001), and rs2682818 showed nominal association with a risk of upper NSST (additive model: OR = 1.40, 95 % CI = 1.02–1.91, P = 0.037) and NSST among male patients (additive model: OR = 1.62, 95 % CI = 1.08–2.43, P = 0.020). Genetic variants of miR-146a/rs2910164 and miR-618 /rs2682818 were likely associated with the risk of NSST in the Chinese population. [ABSTRACT FROM AUTHOR]