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At least 1,621 records · Page 90Linked to original sources
PubMed2005

A genetic study of two calcium-independent cytosolic PLA2 genes in schizophrenia.

The present study detected 9 single nucleotide polymorphisms (SNPs) at the PLA2G4C and PLA2G6 loci among 240 Chinese parent-offspring trios of Han descent. Of these 9 SNPs, 5 showed highly polymorphic in the Chinese population. They were then applied as genetic markers to test the genetic association of these two calcium-independent cytosolic PLA2 genes with schizophrenia. The transmission disequilibrium test (TDT) showed that rs1549637 at the PLA2G4C locus was the only SNP associated with the illness (chi(2) = 5.63, P = 0.018). The global P-value was 0.082 for 1000 permutations with the TDT analysis. Neither the conditional on allele test nor the conditional on genotype test showed a disease association for the combination of these two genes. Because the PLA2G4C association is so weak, this initial finding should be interpreted with caution.

Adult↗
PubMed2002

Genetic association of the catalase gene (CAT) with vitiligo susceptibility.

Vitiligo susceptibility is a complex genetic trait that may involve genes important for melanin biosynthesis, response to oxidative stress, and/or regulation of autoimmunity, as well as environmental factors. We report here case-control and family-based association studies for the catalase gene (CAT) in vitiligo patients. The CAT gene was selected as a candidate gene because of the reduction of catalase enzyme activity (EC 1.11.1.6) and concomitant accumulation of excess hydrogen peroxide observed in the entire epidermis of vitiligo patients. One of three CAT genetic markers studied was found to be informative for genotypic analysis of Caucasian vitiligo patients and control subjects. Both case/control and family-based genetic association studies of the T/C single nucleotide polymorphism (SNP) in exon 9 of the CAT gene, which is detectable with the restriction endonuclease BstX I, suggest possible association between the CAT gene and vitiligo susceptibility. The observations that T/C heterozygotes are more frequent among vitiligo patients than controls and that the C allele is transmitted more frequently to patients than controls suggest that linked mutations in or near the CAT gene might contribute to a quantitative deficiency of catalase activity in the epidermis and the accumulation of excess hydrogen peroxide (H2O2). The CAT gene may, therefore, be a susceptibility gene in some vitiligo patients, further supporting the epidermal oxidative stress model for vitiligo pathogenesis.

Biomarkers↗
PubMed2026

Genome-wide association identifies and validates genomic region controlling grain yield and agronomic traits in extra-early orange maize inbred lines under drought.

In order to meet the expected maize yield by 2050, breeders must work to improve breeding program efficiency by intensifying the implementation of new and improved technologies such as marker-assisted selection (MAS). Dissecting the genomic regions associated with drought tolerance is the first step forward in MAS program deployment for maize improvement under drought stress. Genome-wide association studies (GWAS) were used to investigate and identify quantitative trait loci (QTLs) associated with six traits under drought stress. One hundred and eighty-seven extra-early orange maize inbred lines were evaluated under managed drought stress at Ikenne, in Nigeria, during the 2022 and 2023 dry seasons. The materials were also genotyped using 9355 DArTseq SNP markers and analyzed using the enriched compressed mixed linear model (ECMLM). Enriched compressed mixed linear model was used for association-trait analysis. The ECMLM-based GWAS identified 45 candidate genomic loci associated with the six traits, including five for grain yield, with R2 ranging from 8.79 to 25.3%. Independent validation using the multi-locus 3VmrMLM approach confirmed seven high-confidence genomic loci consistently detected by both methods across grain yield, anthesis-silking interval, ear aspect, and ears per plant, providing additional statistical support for these genomic regions. Candidate gene annotation identified biologically relevant genes underlying the validated loci, including Zm00001eb238250 (protein-serine/threonine phosphatase), Zm00001eb040940 (trehalose-phosphatase), Zm00001eb117820 (homeobox protein knotted-1-like 4), Zm00001eb145560 (zinc ion-binding protein), and Zm00001eb294180 (WRKY DNA-binding domain protein), suggesting their potential roles in drought adaptation and grain productivity. These findings improve our understanding of the genetic architecture of drought tolerance in extra-early orange maize and provide valuable genomic resources for accelerating drought-resilient maize breeding.

Zea mays↗
PubMed1999

Apoptosis induced by nitric oxide is associated with nuclear p53 protein expression in cultured osteoarthritic synoviocytes.

OBJECTIVE: Nitric oxide (NO) is a free radical molecule endogenously produced by NO synthases that may play a critical role in inflammation. It inhibits cell proliferation and may be involved in the induction of apoptosis in various cellular models. Recently, the presence of apoptotic cells was reported in the synovium of osteoarthritic (OA) patients. The aim of this study was to determine whether synovial fibroblasts are target cells for NO-induced apoptosis. The expression of p53 protein was also studied to evaluate the ability of synovial cells to repair DNA fragmentation. METHODS: Synoviocytes from OA patients were treated with two NO donors: sodium nitroprusside (SNP) and S-nitroso-N-acetyl-penicillamine (SNAP). Apoptosis was analysed by transmission electron microscopy. DNA content was evaluated by flow cytometric analysis after propidium iodide staining and recognition of DNA strand break determined by the TUNEL (TdT-mediated dUTP nick end labeling) method. P53 protein expression was studied by immunofluorescence using a monoclonal antibody. RESULTS: After 6 hours, cells treated with NO donors (1.25 mM) showed a cytoplasmic condensation and vacuolization. DNA strand break analysis by the TUNEL method confirmed the presence of a DNA fragmentation after 24 hours of NO treatment. There was also a progressive decrease in the DNA diploid peak in response to NO donors. In parallel, p53 protein, constitutively expressed in cytoplasmic synovial cells, showed markedly increased expression after a 6-hour NO exposure and displayed prominent nuclear staining after 12 hours. CONCLUSIONS: This study demonstrates the potential role of NO for the induction of synoviocyte apoptosis in OA. The increased expression of p53 in the nucleus may play a protective role in the control of apoptosis.

Aged↗
PubMed2005

Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal.

Once genetic linkage has been identified for a complex disease, the next step is often association analysis, in which single-nucleotide polymorphisms (SNPs) within the linkage region are genotyped and tested for association with the disease. If a SNP shows evidence of association, it is useful to know whether the linkage result can be explained, in part or in full, by the candidate SNP. We propose a novel approach that quantifies the degree of linkage disequilibrium (LD) between the candidate SNP and the putative disease locus through joint modeling of linkage and association. We describe a simple likelihood of the marker data conditional on the trait data for a sample of affected sib pairs, with disease penetrances and disease-SNP haplotype frequencies as parameters. We estimate model parameters by maximum likelihood and propose two likelihood-ratio tests to characterize the relationship of the candidate SNP and the disease locus. The first test assesses whether the candidate SNP and the disease locus are in linkage equilibrium so that the SNP plays no causal role in the linkage signal. The second test assesses whether the candidate SNP and the disease locus are in complete LD so that the SNP or a marker in complete LD with it may account fully for the linkage signal. Our method also yields a genetic model that includes parameter estimates for disease-SNP haplotype frequencies and the degree of disease-SNP LD. Our method provides a new tool for detecting linkage and association and can be extended to study designs that include unaffected family members.

Alleles↗
PubMed2026

Evaluation of epistasis detection methods for quantitative phenotypes.

MOTIVATION: Epistasis, or genetic interaction, plays a crucial role in shaping complex traits and has been increasingly recognized for its widespread influence in genetic architectures. While epistasis detection has been extensively evaluated in case-control studies, its performance with quantitative phenotypes remains comparatively understudied. RESULTS: We identified and evaluated six epistasis detection methods applicable to quantitative trait analysis: EpiSNP, Matrix Epistasis, MIDESP, PLINK Epistasis, QMDR, and REMMA. Using the EpiGEN simulator, we generated synthetic datasets modeling four classes of pairwise SNP interactions-dominant, multiplicative, recessive, and XOR. We also assessed BOOST and MDR algorithms using discretized (case-control) versions of the same datasets. Performance varied notably by interaction type: REMMA achieved the highest overall detection rate (55%), particularly excelling with dominant interactions (100%). MDR excelled with multiplicative (57%) and XOR (69%) interactions. Meanwhile, EpiSNP attained the best performance for recessive interactions (67%). All methods except BOOST produced F1 scores below 0.05 for most interaction types. We further evaluated the methods using a real-world dataset. When applied to the Adolescent Brain Cognitive Development dataset to analyse the externalizing behavior phenotype, both PLINK Epistasis and PLINK BOOST identified SNPs within the DRD2 and DRD4 genes, consistent with previously reported genetic associations. Given the variability in tool performance across interaction types, no single method provides optimal detection across all scenarios. Leveraging multiple detection algorithms may therefore yield more comprehensive insights into epistatic effects in quantitative trait analyses. AVAILABILITY AND IMPLEMENTATION: All relevant code and simulated datasets can be found at github.com/staslist/Epistasis_Review repository.

Epistasis, Genetic↗
PubMed2004

SNPs in the promoter of a B cell-specific antisense transcript, SAS-ZFAT, determine susceptibility to autoimmune thyroid disease.

Autoimmune thyroid disease (AITD) is caused by an immune response to self-thyroid antigens and has a significant genetic component. Antisense RNA transcripts have been implicated in gene regulation. Here we have identified a novel zinc-finger gene, designated ZFAT (zinc-finger gene in AITD susceptibility region), as one of the susceptibility genes in 8q23-q24 through an initial association analysis using the probands in the previous linkage analysis and a subsequent association analysis of the samples from a total of 515 affected individuals and 526 controls. The T allele of the single-nucleotide polymorphism (SNP), Ex9b-SNP10 located in the intron 9 of ZFAT, is associated with increased risk for AITD (dominant model: odds ratio = 1.7, P = 0.000091). The Ex9b-SNP10 falls into the 3'-UTR of truncated-ZFAT (TR-ZFAT) and the promoter region of the small antisense transcript of ZFAT (SAS-ZFAT). In peripheral blood lymphocytes, SAS-ZFAT is exclusively expressed in CD19+ B cells and expression levels of SAS-ZFAT and TR-ZFAT seemed to correlate with the Ex9b-SNP10-T-associated ZFAT-allele, inversely and positively, respectively. The Ex9b-SNP10 is critically involved in the regulation of SAS-ZFAT expression in vitro and this expression results in a decreased expression of TR-ZFAT. These results suggested that the SNP-associated ZFAT-allele plays a critical role in B cell function by affecting the expression level of TR-ZFAT through regulating SAS-ZFAT expression and that this novel regulatory mechanism of SNPs might be involved in controlling susceptibility or resistance to human disease.

B-Lymphocytes↗
PubMed2006

Influenza Virus Database (IVDB): an integrated information resource and analysis platform for influenza virus research.

Frequent outbreaks of highly pathogenic avian influenza and the increasing data available for comparative analysis require a central database specialized in influenza viruses (IVs). We have established the Influenza Virus Database (IVDB) to integrate information and create an analysis platform for genetic, genomic, and phylogenetic studies of the virus. IVDB hosts complete genome sequences of influenza A virus generated by Beijing Institute of Genomics (BIG) and curates all other published IV sequences after expert annotation. Our Q-Filter system classifies and ranks all nucleotide sequences into seven categories according to sequence content and integrity. IVDB provides a series of tools and viewers for comparative analysis of the viral genomes, genes, genetic polymorphisms and phylogenetic relationships. A search system has been developed for users to retrieve a combination of different data types by setting search options. To facilitate analysis of global viral transmission and evolution, the IV Sequence Distribution Tool (IVDT) has been developed to display the worldwide geographic distribution of chosen viral genotypes and to couple genomic data with epidemiological data. The BLAST, multiple sequence alignment and phylogenetic analysis tools were integrated for online data analysis. Furthermore, IVDB offers instant access to pre-computed alignments and polymorphisms of IV genes and proteins, and presents the results as SNP distribution plots and minor allele distributions. IVDB is publicly available at http://influenza.genomics.org.cn.

Databases, Genetic↗
PubMed2004

A new polymorphism (Ser362Thr) of the L-myc gene is not associated with lung adenocarcinoma risk and prognosis.

The non-coding variation in the second intron of the L-myc gene, generating an EcoRI polymorphism, is associated with lung cancer risk and prognosis. We carried out sequence analysis of the L-myc gene in lung adenocarcinoma (ADCA) patients to identify functional polymorphisms and identified a new single nucleotide polymorphism (SNP) in the third exon of the gene causing a Ser362Thr conservative amino acid change in the C-terminus of the encoded protein. This polymorphism showed significant linkage disequilibrium with the L-myc EcoRI polymorphism located at 1751 bp distance. Genotyping of the Ser362Thr SNP in 220 Italian ADCA patients and in 230 general population controls revealed a similar low frequency (0.10-0.11) of the Thr allele in both groups. The multivariate odds ratio was 0.68 (95% confidence interval (CI) 0.38-1.22). In the ADCA patients, no significant association between the Ser/Thr polymorphism and survival was observed. Thus, the present results do not support candidacy of the L-myc Ser362Thr polymorphism for the functional polymorphism of the L-myc genomic region.

Adenocarcinoma↗
PubMed2006

The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians.

BACKGROUND: Klotho has an important role in insulin signalling and the development of ageing-like phenotypes in mice. The common functional "KL-VS" variant in the KLOTHO (KL) gene is associated with longevity in humans but its role in type 2 diabetes is not known. We performed a large case-control and family-based study to test the hypothesis that KL-VS is associated with type 2 diabetes in a UK Caucasian population. METHODS: We genotyped 1793 cases, 1619 controls and 1616 subjects from 509 families for the single nucleotide polymorphism (SNP) F352V (rs9536314) that defines the KL-VS variant. Allele and genotype frequencies were compared between cases and controls. Family-based analysis was used to test for over- or under-transmission of V352 to affected offspring. RESULTS: Despite good power to detect odds ratios of 1.2, there were no significant associations between alleles or genotypes and type 2 diabetes (V352 allele: odds ratio = 0.96 (0.84-1.09)). Additional analysis of quantitative trait data in 1177 healthy control subjects showed no association of the variant with fasting insulin, glucose, triglycerides, HDL- or LDL-cholesterol (all P > 0.05). However, the HDL-cholesterol levels observed across the genotype groups showed a similar, but non-significant, pattern to previously reported data. CONCLUSION: This is the first large-scale study to examine the association between common functional variation in KL and type 2 diabetes risk. We have found no evidence that the functional KL-VS variant is a risk factor for type 2 diabetes in a large UK Caucasian case-control and family-based study.

Adult↗
PubMed2026

Dual-dimensional profiling of host genomic variations and HPV integration in PD-L1-stratified cervical cancer via Oxford Nanopore Technology.

BACKGROUND: The integration of human papillomavirus (HPV) DNA into the host genome is a key step in the development of HPV-associated cervical cancer (CC). However, the genomic characteristics of host genomic variations and HPV integration within the context of programmed death-ligand 1 (PD-L1) expression stratification have not been systematically investigated. METHODS: Whole-genome sequencing was performed using Oxford Nanopore Technology (ONT) on six samples (three from the high PD-L1 expression group and three from the low PD-L1 expression group). The characteristics of host genomic variations under different PD-L1 expression stratifications were explored, including structural variations (SV), copy number variations (CNV), single nucleotide polymorphisms (SNP), and insertion-deletions (Indel). Subsequently, the distribution features of HPV integration sites were analyzed, different integration types were identified, and pathway analysis was conducted. RESULTS: Whole-genome SV analysis revealed that the total number of SVs and the composition of mutation types were similar between the high and low PD-L1 expression groups, with insertions (INS) and deletions (DEL) predominating in both. These variations were primarily enriched in intergenic regions and introns. In the low PD-L1 expression group, integration events were observed at multiple chromosomal loci, with the most frequent integration occurring in the KLF5 gene region on chromosome 13. No frequently integrated loci were identified in the high PD-L1 expression group. Additionally, four distinct HPV integration breakpoint patterns were preliminarily identified and analyzed. CONCLUSION: PD-L1 expression stratification did not significantly alter the overall genomic instability of the host. However, differences were observed in the distribution patterns of HPV integration sites. These findings provide new insights into the genomic heterogeneity of CC under different PD-L1 expression backgrounds and may lay the groundwork for future research exploring stratified immunotherapy based on HPV integration features.

Humans↗
PubMed2025

Phylogenetics and genomic variation of Hepatocystis isolated from shotgun sequencing of wild primate hosts.

Hepatocystis are apicomplexan parasites nested within the Plasmodium genus that infect primates and other vertebrates, yet few isolates have been genetically characterized. Using taxonomic classification and mapping characteristics, we searched for Hepatocystis infections within publicly available, blood-derived whole genome sequence (WGS) data from 326 wild non-human primates (NHPs) in 17 genera. We identified 37 Hepatocystis infections in Papio cynocephalus (yellow baboons) and four species of Chlorocebus monkeys (grivets, green monkeys, vervet monkeys, and malbroucks) sampled from locations in west, east, and south Africa. Hepatocystis cytb sequences from Papio and Chlorocebus hosts each clustered within host species among previously reported isolates from other NHP taxa. Utilizing the low-coverage sequence data (0.11-0.76X per sample) recovered across the nuclear Hepatocystis genome, we identified 349,893 polymorphic sites. Principle components analysis based on genotype likelihoods across all samples showed evidence for population structure by primate host species. Across the genome, windows of high SNP density revealed candidate hypervariable loci including Hepatocystis-specific gene families possibly involved in immune evasion and genes that may be involved in adaptation to their insect vector and hepatocyte invasion. Overall, this work demonstrates how WGS data from wild NHPs can be leveraged to study the evolution of apicomplexan parasites and potentially test for association between host genetic variation and parasite infection.

Animals↗
PubMed2000

Future molecular approaches to the diagnosis and treatment of glomerular disease.

Current diagnoses and treatment decisions for renal disease are made based upon a combination of clinical and pathological determinations. With the advances in both biochemical and molecular biological techniques, identifying the underlying biochemical and genetic changes that may have initiated and/or contributed to the disease is possible. We describe here technologies that may lead to significant changes in renal disease diagnosis, characterization, treatment, and potentially prevention. For example, differential display techniques and DNA gene chip arrays show the changes in mRNA expression patterns and can potentially identify previously unknown genes and reveal new roles for previously known genes in renal disease. The generation of the single nucleotide polymorphisms (SNP) genomic map will facilitate genetic screening that may identify a gene or combination of genes that produce enhanced disease susceptibility. Combining genomic analysis with epidemiological studies may identify environmental factors that contribute to renal disease onset in genetically susceptible individuals. A number of novel therapies are already on the horizon. These include reagents that abrogate the function of specific cytokines, chemokines, and effector cells. With the list of renal disease genes in hand, their role in renal physiology and pathophysiology can be determined, which should lead to the discovery of pharmacological intervention directed at those genes and their products that play a role in the pathogenesis of renal disease.

Biotechnology↗
PubMed2003

[The association of cyclin D1 (A870G) polymorphism with susceptibility to esophageal and cardiac cancer in north Chinese population].

OBJECTIVE: To investigate the association of Cyclin D1 (A870G) single nucleotide polymorphism (SNP) with the susceptibility to esophageal and cardiac cancer in northern Chinese population. METHODS: By polymerase chain reaction-single strand conformation polymorphism analysis (PCR-SSCP), the Cyclin D1 (A870G) genotyping was performed among 178 patients with esophageal or esophageal -gastric junction carcinoma (120 with esophageal squamous cell cancer and 58 with cardiac adenoma cancer) and 122 health controls. RESULTS: There were no significant differences in Cyclin D1 (A870G) allele frequencies between cancer patients and health controls (P = 0.075). There is no genotype distribution difference was found between non-smoker patients and controls (P > 0.05). The risk for esophageal and cardiac cancer is 2.5 times higher in A/A genotype carried smokers than that in A/G or G/G genotype carried non-smokers, with the adjusted Odd Ratio of 2.57 (95% confidence interval is 1.19 approximately 5.57). The G/G genotype reduces the susceptibility to esophageal cancer, with the adjusted Odd Ratio of 0.39 and 95% confidence interval of 0.18 - 0.82. The A/A frequency in cardiac patients (34.48%) is higher than that in health controls (23.77%) but the difference does not reach significant (P = 0.212). CONCLUSION: In northern Chinese population, the smoking individuals carrying Cyclin D1 (A870G) A/A genotype increase the susceptibility to esophageal and cardiac cancer. The G/G genotype probably plays a protecting role in the occurrence of esophageal cancer.

Adult↗
PubMed2006

Oligonucleotide-arrayed TFT photosensor applicable for DNA chip technology.

A thin film transistor (TFT) photosensor fabricated by semiconductor integrated circuit (IC) technology was applied to DNA chip technology. The surface of the TFT photosensor was coated with TiO2 using a vapor deposition technique for the fabrication of optical filters. The immobilization of thiolated oligonucleotide probes onto a TiO2-coated TFT photosensor using gamma-aminopropyltriethoxysilane (APTES) and N-(gamma-maleimidobutyloxy) sulfosuccinimide ester (GMBS) was optimized. The coverage value of immobilized oligonucleotides reached a plateau at 33.7 pmol/cm2, which was similar to a previous analysis using radioisotope-labeled oligonucleotides. The lowest detection limits were 0.05 pmol/cm2 for quantum dot and 2.1 pmol/cm2 for Alexa Fluor 350. Furthermore, single nucleotide polymorphism (SNP) detection was examined using the oligonucleotide-arrayed TFT photosensor. A SNP present in the aldehyde dehydrogenase 2 (ALDH2) gene was used as a target. The SNPs in ALDH2*1 and ALDH2*2 target DNA were detected successfully using the TFT photosensor. DNA hybridization in the presence of both ALDH2*1 and ALDH2*2 target DNA was observed using both ALDH2*1 and ALDH2*2 detection oligonucleotides-arrayed TFT photosensor. Use of the TFT photosensor will allow the development of a disposable photodetecting device for DNA chip systems.

Biosensing Techniques↗
PubMed2003

DASH-2: flexible, low-cost, and high-throughput SNP genotyping by dynamic allele-specific hybridization on membrane arrays.

Genotyping technologies need to be continually improved in terms of their flexibility, cost-efficiency, and throughput, to push forward genome variation analysis. To this end, we have leveraged the inherent simplicity of dynamic allele-specific hybridization (DASH) and coupled it to recent innovations of centrifugal arrays and iFRET. We have thereby created a new genotyping platform we term DASH-2, which we demonstrate and evaluate in this report. The system is highly flexible in many ways (any plate format, PCR multiplexing, serial and parallel array processing, spectral-multiplexing of hybridization probes), thus supporting a wide range of application scales and objectives. Precision is demonstrated to be in the range 99.8-100%, and assay costs are 0.05 USD or less per genotype assignment. DASH-2 thus provides a powerful new alternative for genotyping practice, which can be used without the need for expensive robotics support.

Alleles↗
PubMed2002

[Study on sequence difference and SNP pheomenon of rDNA ITS region in F type and H type population of Dendrobium officinale].

OBJECTIVE: To study rDNA ITS sequence differences between F type and that of H type of Dendrobium officinale in main habitat of China. METHOD: The population differences of the rDNA ITS region (including ITS1, ITS2, 5.8S) sequences of D. officinale were studied by the method of DNA sequences analysis. RESULT: There were two different sites between the rDNA ITS sequence of F type and that of H type. One was in ITS1 region, and the other was in 5.8S region. It was proved that there was some relativity between the character of rDNA ITS region and the life type of the populations. The phenomenon of single nucleotide polymorphism (SNP) existed in 5.8S region of rDNA ITS region between F type and H type. The sequences of rDNA ITS region of D. officinale were reported for the first time, and the sequences of ITS region ranged 634 bp (ITS1 231 bp, ITS2 240 bp, 5.8S 163 bp). CONCLUSION: The analysis of rDNA ITS of D. officinale deeply reveal the population differences of D. officinale of F type and H type.

Base Sequence↗
PubMed2004

Analysis of polymorphisms in the promoter region of interleukin-1beta by restriction fragment length polymorphism-PCR.

OBJECTIVE: To investigate the frequencies of -1470, -511 and -31 single nucleotide polymorphisms (SNPs) in the promoter of IL-1beta and its haplotype constitution in Chongqing population. METHODS: One hundred and twelve healthy Chongqing people were enrolled in this study. Polymorphisms at -1470 (G to C), -511 (T to C) and -31 (C to T) of IL-1beta were genotyped with the method of restriction fragment length polymorphism (RFLP). Haplotype frequencies were analyzed by Arlequine software. RESULTS: Frequencies of IL-1beta -1470, -511 and -31 SNPs were 41.67%, 50% and 45.33%, respectively. Genotype frequencies of -1470 locus were 39.81%, 37.04% and 23.15% for G/G, G/C and C/C respectively. As for T-511C SNP, genotype frequencies of T/T, T/C and C/C were 29.91%, 40.18% and 29.91%, respectively. Genotyping results of C/C, C/T, and T/T of -31 locus were 35.51%, 38.32% and 26.71% respectively. Haplotype analysis found that there were mainly three haplotypes constituted by three SNPs, ie., G-T-C, C-T-C and G-C-T. CONCLUSIONS: Polymorphisms exist in the promoter of IL-1beta in Chongqing population. Three SNPs locate in the same haplotype block.

Asian People↗