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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. [ABSTRACT FROM AUTHOR]

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 χ2 test and SNPStats software. The rs3829382 in FLT3 was associated with increased odds of developing GBM using the χ2 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. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this paper is to describe ophthalmic findings in a family with isolated ectopia lentis (EL) caused by a specific FBN1 mutation. Methods: Detailed family histories and clinical data were recorded for six isolated EL patients of 11 family members. The ophthalmological and systematic examinations were performed on patients and unaffected members of the investigated family. The detailed ocular examinations included visual acuity, anterior chamber depth, pupil size, lens location, optometry, central corneal thickness, keratometry, slitlamp examination, fundus examination, axial length, ocular B-ultrasound, gonioscope checking, ultrasound biomicroscopy (UBM) and intraocular pressure (IOP; Goldmann applanation tonometer). Systematic examinations included the measurement of echocardiogram, height, arm span, skull, face, jaw, tooth, breast bone, spinal column, and skin. Genomic DNA was extracted using the phenol-chloroform extraction method for all subjects, and sequencing was carried out on an ABI Prism 3730 Genetic Analyzer. Results: A heterozygous mutation, c.184C>T (p.Arg62Cys) in exon 2 of FBN1 was identified in all affected members but was not found in any unaffected member of the family. Our study presented detailed clinical manifestations, including some novel ophthalmic findings, such as pupillary abnormality, different types of glaucoma, and progressive hyperopia. Conclusions: Ophthalmic findings and the p.Arg62Cys mutation of FBN1 gene were reported in a family with early-onset isolated ectopia lentis. [ABSTRACT FROM AUTHOR]

Background: In recent years, studies have demonstrated that polymorphisms in the promoters of Fas and FasL are significantly associated with breast cancer risk. However, the results of these studies were inconsistent. This case-control study was performed to explore the associations between Fas rs1800682 and FasL rs763110 polymorphisms and breast cancer., Materials and Methods: A hospital-based case-control study of 560 Han Chinese females with breast cancer (583 controls) was conducted. The MassARRAY system was used to search for a possible association between the disease risk and the two single nucleotide polymorphisms, Fas rs1800682 and FasL rs763110. Statistical analyses were performed using SNPStats software to conduct Pearson's chi-square tests in five different genetic models. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated after adjustment to age and body mass index. PHASE v2.1 software was used to reconstruct all common haplotypes., Results: A statistically significant association was found between Fas rs1800682 and increased breast cancer risk (AG vs AA: OR =1.37, 95% CI =1.06-1.78; AA+AG vs GG: OR =1.32, 95% CI =1.04-1.66), and also it was found that the FasL rs763110 polymorphism may decrease the risk. Stratified analyses demonstrated that the rs763110 polymorphism was associated with lower breast cancer risk among postmenopausal females (heterozygote model: OR =0.69, 95% CI =0.49-0.97; dominant model: OR =0.70, 95% CI =0.51-0.96). The T allele of rs763110 was also associated with a decreased risk of lymph node metastasis (allele model: OR =0.75, 95% CI =0.57-0.97) and an increased risk of the breast cancer being human epidermal growth factor receptor 2 positive (allele model: OR =1.37, 95% CI =1.03-1.18). Moreover, haplotype analysis showed that Ars1800682Trs763110 was associated to a statistically significant degree with lower risk of breast cancer (OR =0.70, 95% CI =0.53-0.91)., Conclusion: These data suggest that the presence of Fas rs1800683 is an important risk factor for breast cancer, whereas FasL rs763110 may exert a protective effect against the onset of breast cancer.

Lung cancer is the most frequent cancer among men in many countries. It is the result of interactions between genetic and environmental factors, among which tobacco smoking is a key environmental factor. CHRNA5, Cholinergic Receptor, Neuronal Nicotinic, Alpha Polypeptide-5, was previously reported to be associated with lung cancer risk. To identify the genetic susceptibility and tobacco smoking that influence lung cancer risk in Han population, we performed a case-control study in 228 patients and 301 controls. These data were compared using the χ(2)-test, genetic model analysis, and haplotype analysis. rs495956, rs680244, rs601079, rs555018, 588765 and rs11637635 showed an increased risk of lung cancer in both allelic model and genetic mode analysis. The genotype G/A-A/A of rs11637635 was most strongly associated with a 2.17-fold increased risk of lung cancer in dominant model (p = 0.018). One SNP, rs684513, was associated with a 0.645-fold decreased risk (p = 0.033) in allelic model analysis. By haplotype association analysis, haplotype sequences CTTATCAAAGA and GA of CHRNA5 were found to be associated with a 2.03-fold and 1.91-fold increased lung cancer risk (p < 0.05). Our results, combined with those from previous studies, suggest that genetic variation in CHRNA5 may influence susceptibility to lung cancer among Han smokers.

Background: The association between the RTEL1 rs6010620 single nucleotide polymorphism (SNP) and glioma risk has been extensively studied. However, the results remain inconclusive. To further examine this association, we performed a meta-analysis., Materials and Methods: A computerized search of the PubMed and Embase databases for publications regarding the RTEL1 rs6010620 polymorphism and glioma cancer risk was performed. Genotype data were analyzed in a meta-analysis. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association. Sensitivity analyses, tests of heterogeneity, cumulative meta-analyses, and assessments of bias were performed in our meta-analysis., Results: Our meta-analysis confirmed that risk with allele A is lower than with allele G for glioma. The A allele of rs6010620 in RTEL1 decreased the risk of developing glioma in the 12 case-control studies for all genetic models: the allele model (OR=0.752, 95%CI: 0.715-0.792), the dominant model (OR=0.729, 95%CI: 0.685-0.776), the recessive model (OR=0.647, 95%CI: 0.569-0.734), the homozygote comparison (OR=0.528, 95%CI: 0.456-0.612), and the heterozygote comparison (OR=0.761, 95%CI: 0.713-0.812)., Conclusions: In all genetic models, the association between the RTEL1 rs6010620 polymorphism and glioma risk was significant. This meta-analysis suggests that the RTEL1 rs6010620 polymorphism may be a risk factor for glioma. Further functional studies evaluating this polymorphism and glioma risk are warranted.

Objective: To examine the genetic polymorphism of 9 STR loci in 5 ethnic groups (including Tu, Sala, Dongxiang, Baoan and Yugu) in Gansu and Qinghai, and to evaluate its application., Methods: Nine STR loci (D3S1358, FGA, TH01, D7S820, VWA, CSF1PO, D5S818, D13S317 and TPOX) were selected as genetic markers. With STR compound amplification and genescan methods, in which STR loci were marked by fluorescence, the genotype of 5 ethnic groups were examined in 606 unrelated individuals by ABI 377 sequencer. These parameters, such as polymorphism information content (PIC), heterozygosity (H), discrimination power (DP) and probability of paternity exclusion (PPE) were calculated., Results: The genotype frequencies of the 9 STR loci were in accordance with Hardy-Weinberg equilibrium. PIC was within 0.6054 - 0.8735, H was within 0.6158 - 0.8736, DP was within 0.7964 - 0.9691, and PPE was within 0.4610 - 0.8838. Cluster analysis based on allele frequencies in genesis showed Tu, Sala, Dongxiang and Baoan ethnic groups were very close, but Yugu was a little bit far. There were obvious gene exchanges among the populations in north and south of China., Conclusion: All the 9 STR loci are highly polymorphic in the 5 ethnic groups, which can be useful genetic markers in forensic medicine and population genetics.

Objective: To study the STR genetic structure of an Ewenki Ethnic minority Group of Inner Mongolia, and analyze the genetic relationship among Ewenki and other 14 groups., Methods: Genetic distribution for 9 STR loci (D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, and D7S820) were determined based on gene scan marked by fluorescence. Principle component analysis was performed using SPSS., Results: Sixty-four alleles and 158 genotypes were observed in 90 unrelated Ewenki individuals. The corresponding gene frequency and genotype frequency was 0.0056 to 0.4722 and 0.0111 to 0.3, respectively. The expected and observed genotype frequency of the 9 STR loci were in accordance with the Hardy-Weinberg equilibrium (P>0.05). The principle component analysis showed that Ewenki clustered with groups of Mongolian and Tujue language branch., Conclusion: Nine of the STR genetic structure of an Ewenki Ethnic minority Group of Inner Mongolia were obtained. Those ethnic groups in subfamilies of Altaic language family clustered as their geographical location and those with close genetic relationships use similar language.

Objective: To study the short teadem repeat(STR) genetics structure of a Chinese Yunnan Yi racial group., Methods: Genetic distributions for nine STR loci were determined based on STR gene scan marked by fluorescence., Results: Sixty-nine alleles and 164 kinds of genotypes were detected and identified from 84 unrelated Yi racial individuals. The corresponding gene and genotype frequencies were in 0.0060-0.5060 or 0.0119-0.4167 respectively. The expected and observed genotype frequencies of nine STR loci were in accordance with the Hardy-Weinberg equilibrium(P>0.05). The statistical analyses of nine STR loci showed that PIC was distributed in 0.5804-0.8777, H was in 0.6507-0.8002, DP was in 0.7976-0.9558, EPP was in 0.5207-0.8386, except TPOX and THO1 loci., Conclusion: Above research data enrich the Chinese genetic database, and play an important role in Chinese genetic study and in forensic application.

Objective: To investigate the alleles and genotypes frequency of 10 short tandem repeat (STR) loci on the X chromosome(DXS7423, DXS8378, DXS6799, DXS7424, DXS7130, DXS7132, DXS6789, DXS101, DXS6804, DXS7133) of Tibetan individuals living in Xizang Autonomous Region, Southwest China., Methods: The 10 X-chromosomal STR loci were analyzed with PCR, followed by polyacylamide gel electrophoresis and silver staining., Results: Among unrelated Tibetan individuals, the numbers of alleles in the 10 X-STR loci(DXS7423, DXS8378, DXS6799, DXS7424, DXS7130, DXS7132, DXS6789, DXS101, DXS6804, DXS7133) were 5, 5, 5, 9, 7, 7, 11, 9, 5 and 4, respectively. The genotype frequencies in females were in accordance with Hardy-Weinberg equilibrium., Conclusion: The 10 X-chromosomal STRs loci are appropriate for individual identification, for paternity testing involving a female child, and for studies on related disease.

Objective: To determine the molecular genetic relationship of minorities and sub-population in Guangxi area., Methods: Six stable STRs (D3S1358, vWA, FGA, D5S818, D13S317 and D7S820) were selected as genetic markers. STR data of Zhuang (Yangshuo) and Yao(Wantian) were genotyped from blood samples by ABI377 sequencer. STR data of another 12 ethnic groups in Guangxi were collected from publications. Hardy-Weinberg equilibrium was evaluated and H, PIC, DP and PPE were computed. The genetic distances between different populations were calculated using Nei's method and clustering analysis was done by average linkage between the groups. We drew their phylogenetic tree using UPGMA., Results: The alleles of 6 STRs in the 15 populations of Guangxi conformed with Hardy-Weinberg equilibrium. H was distributed in 0.6482-0.9299; PIC in 0.5706-0.8662; DP in 0.8258-0.9706, and PPE in 0. 4215-0.9917. Genetic distance between Jing of Guangxi and Jing in Dongxing was minimum (0.0007) in the 15 populations, while genetic distance between Guangxi Gelao and Wantian Yao was maximal (0.2391). The phylogenetic tree was similar to the results of clustering analysis and all the 15 populations were clustered into 2 groups., Conclusion: The results indicate that the H, PIC, DP and PPE of 6 STRs in the 15 Guangxi populations are comparatively high. There is gene flow in some groups, but several minorities are relatively separated.

Genetic distribution for nine STR loci were determined in a Chinese Guangxi Zhuang national minority group based on STR gene scan marked by fluorescence. Sixty-two alleles and 169 genotypes were observed in 91 unrelated Zhuang individuals. The corresponding gene frequency and genotype frequency were 0.0054-0.5495 and 0.0110-0.3297 respectively. The expected and observed genotype frequency of nine STR loci was in accordance with the Hardy-Weinberg equilibrium (P > 0.05). The statistical analysis of nine STR loci showed PIC (polymorphic information content) > or = 0.6088, H (heterozygosity) > or = 0.6174, DP (discrimination power) > or = 0.8028, PPE (probability of paternity exclusion) > or = 0.8165. The genetic distance figured with 9 STR genetic data showed that there were significant differences between Chinese Zhuang national minority and the American White and the American Black, and there was little difference between Zhuang national minority and the Chinese Xi'an Han. The result of clusting showed that the present data were divided into three groups: the Black, the White and the Yellow (the Chinese).

In order to enrich the Chinese genetic database,nine polymorphic loci of STR,such as D3S1358,vWA,FGA,TH01,TPOX,CSF1PO,D5S818,D13S317 and D7S820 were studied. Based on STR gene scan marked by fluorescence,91 unrelated Chinese Chaoxian individuals were observed.81 alleles and 196 genotypes were found. The corresponding gene frequency and genotype frequency were 0.0055-0.4615 and 0.0110-0.9890 respectively. The genogypes frequency of nine STR loci was good with the Hardy-Weinberg equilibrium (P approximately 0.05). The statistical analysis of nine STR loci showed the following: PIC (polymorphic information content) >or=0.6863, H (heterozygosity) >or=0.6919, DP (discrimination power) >or=0.8301, EPP (probability of paternity exclusion) >or=0.8590. The data studied can be used in Chinese population genetic studies and forensic medicine applications.