ABSTRACT
Glioblastoma (GBM) is the highest-grade glioma in astrocytoma. Patients often have poor prognosis due to therapeutic resistance and tumor recurrence. Identification of the genetic factors of GBM could be important contribution to early prevention of this disease. We genotyped 17 tag single-nucleotide polymorphisms (tSNPs) from nine genes in this study, including 72 cases and 302 controls. SNP genotyping was conducted using Sequenom MassARRAY RS1000. Statistical analysis of the association between tSNPs and GBM was performed using the χ (2) test and SNPStats software. The rs3829382 in FLT3 was associated with increased odds of developing GBM using the χ (2) test. When we analyzed tSNPs under different inheritance models, we found rs9642393 in EGFR increased odds of developing GBM in the dominant model. After stratification by gender, we found that rs12645561 in NEIL3 and rs2291427 in ALOX5 were associated with developing GBM. Polymorphisms within FLT3, EGFR, NEIL3, and ALOX5 may contribute to the occurrence of GBM in the Han Chinese population. However, the functional significance of these polymorphisms needs further investigation.
Subject(s)
Arachidonate 5-Lipoxygenase/genetics , ErbB Receptors/genetics , Genetic Predisposition to Disease/genetics , Glioblastoma/genetics , N-Glycosyl Hydrolases/genetics , Polymorphism, Single Nucleotide/genetics , fms-Like Tyrosine Kinase 3/genetics , Adult , Asian People/genetics , Brain Neoplasms/etiology , Brain Neoplasms/genetics , Female , Genotype , Glioblastoma/etiology , Humans , Male , Middle AgedABSTRACT
Common variants of multiple genes play a role in glioma onset. However, research related to astrocytoma, the most common primary brain neoplasm, is rare. In this study, we chose 21 tagging SNPs (tSNPs), previously reported to be associated with glioma risk in a Chinese case-control study from Xi'an, China, and identified their contributions to astrocytoma susceptibility. We found an association with astrocytoma susceptibility for two tSNPs (rs6010620 and rs2853676) in two different genes: regulator of telomere elongation helicase 1 (RTEL1) and telomerase reverse transcriptase (TERT), respectively. We confirmed our results using recessive, dominant, and additive models. In the recessive model, we found two tSNPs (rs2297440 and rs6010620) associated with increased astrocytoma risk. In the dominant model, we found that rs2853676 was associated with increased astrocytoma risk. In the additive model, all three tSNPs (rs2297440, rs2853676, and rs6010620) were associated with increased astrocytoma risk. Our results demonstrate, for the first time, the potential roles of RTEL1 and TERT in astrocytoma development.
Subject(s)
Astrocytoma/genetics , Brain Neoplasms/genetics , DNA Helicases/genetics , Genetic Predisposition to Disease/genetics , Polymorphism, Single Nucleotide , Telomerase/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Asian People/genetics , Astrocytoma/ethnology , Brain Neoplasms/ethnology , Case-Control Studies , Child , Child, Preschool , China , Female , Gene Frequency , Genetic Predisposition to Disease/ethnology , Genotype , Humans , Infant , Male , Middle Aged , Odds Ratio , Risk Factors , Young AdultABSTRACT
AIM: We have carried out a bibliometric analysis on the development of ametropia literature to determine its growth rule and tendency, and to provide the basis for the problems related to ametropia research. METHODS: Literatures that contained the descriptors of ametropia in title or paper published before Nov. 10, 2010 in PubMed databases (www.ncbi.nlm.nih.gov/Pubmed) were selected. As bibliometric indicators of ametropia, biomedical journals referring to ophthalmology by ISSN were calculated. The principal bibliometric indicators: Price's and Bradford's laws were applied on the increase or dispersion of scientific literature, the participation index of languages and the journals. By means of manual coding, literatures were classified according to documents study and statistical analysis. RESULTS: The literatures cited in ametropia, astigmatism, myopia and hypermetropia had accumulated to 26475, which consists of Review (n=1560), Randomized Controlled Trial (n=776), Practice Guideline (n=10), Meta-Analysis (n=23), Letter (n=1222), Editorial (n=328), Clinical Trial (n=1726) and Others (n=20830), and Humans (n=23073), Animals(n=1434) and others (n=1968). 1136 literatures were included in PubMed Central, 22384 in MEDLINE and 2955 in others. The ametropia literatures rose every 5 years which of the ametropia-year cumulated amount of the literatures had three periods: before 1900, slowly increasing from 1901 to 1950, rapidly rising from 1951 to 2010 (increased approximate exponentiation exponent). Sixty kinds of languages listed in PubMed databases, of which English is dominant for aborting to ametropia research documents before 2010 (77.32%, 20471/26475). The document languages of top eight account for 95.58% (English, German, French, Japanese, Russian, Italian, Spanish, Chinese), and others for 4.42% (1171/26475). The SCI database includes 48 ophthalmologic journals and the impact factor of 39 journals is ≥1 on Thomson-Reuters in 2010. Of 48 ophthalmologic journals, there were 14785 documents (55.85%) of ametropia, astigmatism, myopia, and hypermetropia. Others were without exception. CONCLUSION: The bibliometric analysis results show that ametropia literature are increased progressively, approximate exponentiation exponent during 1951-2010. In addition, ametropia research has become more popular since nearly half century.
