ABSTRACT
Genetic variants in glioma tumor suppressor candidate region gene 1 (GLTSCR1) and ATM serine/threonine kinase (ATM) have been associated with various cancer risks. Epidemiological studies also revealed the association of variants of GLTSCR1 and ATM genes with different brain tumors. However, little is known about the relationship between both gene polymorphisms and lung cancer risk. We conducted a Chinese hospital-based casecontrol study involving 384 lung cancer cases and 387 cancer-free controls. No significant differences in the single polymorphism (GLTSCR1 rs1035938 and ATM rs11212592) association were found in five genetic models (co-dominant, dominant, recessive, overdominant and log-additive models) (adjusted by smoking duration). Join effect of three SNPs (PPP1R13L rs1970764, CD3EAP rs967591, GLTSCR1 rs1035938) on chromosome 19q13.3 showed that the designated haplotype8 (rs 1970764G-rs967591A-rs1035938C) [OR (95% CI)=1.60(1.11-2.32), P/0.012] andhaplotype8 (rs1970764G-rs967591G-rs1035938T) [OR (95% CI)=2.45 (1.17-5.12), P=0.018] were associated with increased risk of lung cancer (adjusted by smoking duration). The analysis of multifactor dimensionality reduction revealed that two 3-way models were the best fit models in analyses of 2 loci (P<0.001) or 4 loci (Ð =0.015-0.016). The entropy-based analysis indicated the strongest synergistic effect between PPP1R13L rs1970764 and ATM rs11212592 in analysis of four genes. In conclusion, our study suggests that haplotypes consisting of PPP1R13L rs1970764-CD3EAP rs961591-GLTSCR1 rs1035938 on Chr19q13.3, interaction of smoking and GLTSCR1 rs1035938-ATM rs11212592, and synergistic action of PPP1R13L rs1970764 and ATM rs11212592 may associate with lung cancer risk in the Chinese population.
Subject(s)
Ataxia Telangiectasia Mutated Proteins/genetics , Intracellular Signaling Peptides and Proteins/genetics , Lung Neoplasms/genetics , Polymorphism, Single Nucleotide , Repressor Proteins/genetics , Tumor Suppressor Proteins/genetics , Adult , Case-Control Studies , China , Chromosomal Proteins, Non-Histone , Female , Haplotypes , Humans , Male , Middle Aged , RNA Polymerase IABSTRACT
BACKGROUND: In view of their high level of variability, autosomal short tandem repeats (STRs) are very useful as markers in the disciplines of forensic and population genetics studies. AIM: To investigate the diversity distributions of allelic frequencies of 15 loci from a sample from the Chinese Xibe ethnic group in Liaoning. SUBJECTS AND METHODS: Fifteen STR loci for 150 unrelated Xibe individuals from Liaoning, China were amplified simultaneously in a fluorescence-based reaction using a 2720 Thermal cycler (ABI). Separation and detection of the amplified product were conducted with the Li-COR 4300 DNA Analyzer. RESULTS: In total, 117 alleles were observed, with the corresponding allele frequencies ranging from 0.001 to 0.507. D18S51 had the highest polymorphism (PIC = 0.840) among all 15 STR loci, whereas TPOX had the lowest (PIC = 0.590). The power of discrimination ranged from 0.801 for TH01 locus to 0.957 for D18S51 locus, whereas the power of exclusion ranged from a minimum 0.316 for TPOX locus to a maximum 0.720 for D21S11 locus. The phylogenetic tree established among worldwide populations showed that the Xibe population is far from other populations. CONCLUSION: Databases for the 15 STR loci will be useful for personal identification and paternity tests in the Xibe population and for the establishment of phylogenetic relationships between populations.
Subject(s)
Ethnicity/genetics , Gene Frequency , Microsatellite Repeats , Polymorphism, Genetic , China/ethnology , Humans , Polymerase Chain ReactionABSTRACT
The aim of this study was to estimate the allelic frequencies of the 19 STR loci with the Goldeneye™ DNA ID system 20A kit in a sample of 150 Manchu individuals from China to be used for forensic purposes and population studies. The observed heterozygosity(HO)values of these 19 STR loci ranged from 0.600 (D3S1358) to 0.914 (D18S51), the expected (HE) ranged from 0.615 (TPOX) to 0.876 (D16S1043). The power of discrimination (PD) values were found to range from 0.793 (TPOX) to 0.950 (D16S1043) and the probability of exclusion (PE) varies between 0.291 (D3S1358) and 0.825 (D18S51 and Penta E). Among all the 19 loci, D16S1043 had the highest polymorphism (PIC=0.860), whereas TPOX had the lowest (PIC=0.550). For the 19 loci, the combined power of discrimination and the combined probability of exclusion are 0.9999999999999999999942 and 0.999999996777, respectively. The phylogenetic tree established among worldwide population shows different populations who say the same language usually have a close genetic relationship with each other across the three language families studied (Sino-Tibetan, Altaic and Arabic).
Subject(s)
Asian People/genetics , Gene Frequency , Genetic Loci , Microsatellite Repeats , Phylogeny , China , Chromosomes, Human/genetics , Forensic Genetics , Heterozygote , Humans , Polymorphism, GeneticABSTRACT
In the present study, we investigated the genetic polymorphisms of 6 autosomal STR loci Hum-CSF1PO, D13S317, D5S818, D16S539, TH01, and TPOX in the Xibo population of Liaoning, northeastern China as well as its genetic relationships with other populations in China. No significant deviations from Hardy-Weinberg equilibrium could be found for all loci. Allele frequencies in the Xibo population ranged from 0.001 to 0.507. Among all the 6 loci, D16S539 had the highest polymorphism (PIC=0.8632), whereas TPOX had the lowest (PIC=0.5179). A phylogenic tree was constructed using Poptree 2 software. In the phylogenic tree, Xibo population has a distant relationship with the other populations.
