Experts and Doctors on alleles in Shanghai, Shanghai Shi, China


Locale: Shanghai, Shanghai Shi, China
Topic: alleles

Top Publications

  1. Chu X, Dong C, Lei R, Sun L, Wang Z, Dong Y, et al. Polymorphisms in the interleukin 3 gene show strong association with susceptibility to Graves' disease in Chinese population. Genes Immun. 2009;10:260-6 pubmed publisher
    ..63, combined P (P(comb))=4 x 10(-6) in the Recessive disease model). This study provides convincing evidence that the IL3 gene is a susceptibility locus for GD in the Chinese population. ..
  2. Feng M, Yin B, Shen T, Ma Q, Liu L, Zheng J, et al. TAP1 and TAP2 polymorphisms associated with ankylosing spondylitis in genetically homogenous Chinese Han population. Hum Immunol. 2009;70:257-61 pubmed publisher
    ..The two haplotypes appeared to confer protection in AS (p < 0.05). These results suggest a potential mechanism of altered antigen-peptide selection and transport in AS pathogenesis...
  3. Shen M, Shi Y, Xiang P. CYP3A4 and CYP2C19 genetic polymorphisms and zolpidem metabolism in the Chinese Han population: a pilot study. Forensic Sci Int. 2013;227:77-81 pubmed publisher
    ..The results also suggest that genetic factors play a major role in the metabolism of individual drugs with implications for both forensic science and clinical pharmacogenetics. ..
  4. He G, Zhang J, Li X, Chen W, Pan Y, Yang F, et al. Interleukin-10 -1082 promoter polymorphism is associated with schizophrenia in a Han Chinese sib-pair study. Neurosci Lett. 2006;394:1-4 pubmed
    ..1, P=0.00443). Our results also indicate that the IL-10 gene may play a significant role in the etiology of schizophrenia among Han Chinese. ..
  5. Feng M, Yin B, Shen T, Huang H, Zheng J, Qian K, et al. Determination of TAP1 and TAP2 polymorphism in the Chinese Han population by real-time TaqMan polymerase chain reaction. Tissue Antigens. 2008;72:441-7 pubmed publisher
    ..The new TaqMan method provides relatively accurate, high-resolution, simple, and fast assays for TAP genotyping...
  6. Kan M, Zhou D, Zhang D, Zhang Z, Chen Z, Yang Y, et al. Two susceptible diabetogenic variants near/in MTNR1B are associated with fasting plasma glucose in a Han Chinese cohort. Diabet Med. 2010;27:598-602 pubmed publisher
    ..66), which is similar to that of Europeans. The common variant in MTNR1B confers the risk of Type 2 diabetes and modulates FPG in both the Han Chinese and European populations. ..
  7. Hu C, Zhang R, Wang C, Yu W, Lu J, Ma X, et al. Effects of GCK, GCKR, G6PC2 and MTNR1B variants on glucose metabolism and insulin secretion. PLoS ONE. 2010;5:e11761 pubmed publisher
    ..Moreover, we found GCK and G6PC2 genetic variants were associated to both first- and second-phases insulin secretion while MTNR1B genetic variant was associated with first-phase insulin secretion, but not second-phase insulin secretion. ..
  8. Yang T, Wei X, Chai Y, Li L, Wu H. Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis. 2013;8:85 pubmed publisher
    ..Complementary to linkage analysis or whole-exome sequencing of deaf families, pre-exclusion of known deafness genes by this strategy may facilitate the discovery of novel deafness genes. ..
  9. Yu H, Zhu Q, Gu S, Fei L. Relationship between IFN-gamma gene polymorphism and susceptibility to intrauterine HBV infection. World J Gastroenterol. 2006;12:2928-31 pubmed
    ..IFN-gamma gene polymorphism might be important in determining individual's susceptibility to intrauterine HBV infection. ..

More Information

Publications243 found, 100 shown here

  1. Ni Y, Zhang J, Sun B. Deoxyribonuclease I gene polymorphism in Han Chinese population: frequency and effect on glucose and lipid parameters. Mol Biol Rep. 2008;35:479-84 pubmed
    ..all P > 0.05). Results obtained in this study could be used for anthropological investigation, probing into relations between DNase I gene and diseases. ..
  2. Wang X, Wu D, Zheng S, Sun J, Tao L, Li Y, et al. Ab-origin: an enhanced tool to identify the sourcing gene segments in germline for rearranged antibodies. BMC Bioinformatics. 2008;9 Suppl 12:S20 pubmed publisher
    ..The features of batch query and confidence indication of IGHD identification would provide extra help to users. The program is freely available at ..
  3. Ye L, Yue D, Wo D, Ding X, Guo S, Li Q, et al. Molecular bases of unexpressed RHD alleles in Chinese D- persons. Transfusion. 2009;49:1655-60 pubmed publisher
    ..This type of systematic knowledge is important for the development of typing and transfusion strategies for the Chinese population. ..
  4. Hua R, Xu J, Wang J, Zhu L, Li B, Liu Y, et al. Association of TNFAIP3 polymorphism with rheumatic heart disease in Chinese Han population. Immunogenetics. 2009;61:739-44 pubmed publisher
    ..Further genetic and functional studies are required to identify the etiological variants in linkage disequilibrium with this polymorphism. ..
  5. Qiu L, Wang Y, Xia Z, Xi B, Mao C, Wang J, et al. miR-196a2 C allele is a low-penetrant risk factor for cancer development. Cytokine. 2011;56:589-92 pubmed publisher
    ..TT: OR=1.19, 95% CI=1.06-1.35; dominant model: OR=1.13, 95% CI=1.01-1.25). Despite some limitations, this meta-analysis suggests that the miR-196a2 C allele is a low-penetrant risk factor for cancer development. ..
  6. Wang Y, Wang Z, Teng Y, Shi J, Wang H, Yuan W, et al. An SNP of the ZBTB38 gene is associated with idiopathic short stature in the Chinese Han population. Clin Endocrinol (Oxf). 2013;79:402-8 pubmed publisher
    ..Our study indicated that the nonsynonymous SNP (rs16851435:T > G,p.Ser319Ala) of ZBTB38 was contributed to susceptibility of ISS in the Chinese Han population. ..
  7. Xue Z, Huang K, Cai C, Cai L, Jiang C, Feng Y, et al. Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing. Nature. 2013;500:593-7 pubmed publisher
    ..Together, the results provide a valuable resource to dissect gene regulatory mechanisms underlying progressive development of early mammalian embryos. ..
  8. Zhang Y, Chen M, Wu Z, Chen J, Yu S, Fang Y, et al. Association study of Val66Met polymorphism in brain-derived neurotrophic factor gene with clozapine-induced metabolic syndrome: preliminary results. PLoS ONE. 2013;8:e72652 pubmed publisher
    ..While preliminary, such findings prompt further, large-scale longitudinal studies to replicate these findings. ..
  9. Jiang L, Yin J, Ye L, Yang J, Hemani G, Liu A, et al. Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. Arthritis Rheumatol. 2014;66:1121-32 pubmed publisher
  10. Liu C, Bian J, Jiang F, Shen F. [Genetic polymorphism of UDP-glucuronosyltransferase 1F and susceptibility to hepatocellular carcinoma]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2002;19:324-8 pubmed
    ..44% ) respectively. For other loci, the difference between the two groups were not significant. Exons 2-5 of UGT1F are highly conservative, but exon 1 emerges highly polymorphic. And the polymorphism at locus 754 may be related with HCC. ..
  11. Xin X, Xiao J, Luan X, Zhou Y, Lu D, Wei D, et al. Association study of six activity SNPS in adrenal steroid hormone metabolism and IBM related genes with precocious puberty in Chinese girls. Neuro Endocrinol Lett. 2006;27:219-24 pubmed
    ..In order to confirm whether the candidate genes have any other activity SNPs that are associated with the onset time of puberty in Chinese girls, resequencing of these candidate genes is needed in following time. ..
  12. Li D, He L. Meta-study on association between the monoamine oxidase A gene (MAOA) and schizophrenia. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:174-8 pubmed
    ..In this study, however, we found no significant evidence of association with the two schizophrenia susceptibility polymorphisms. ..
  13. Tang W, Huang K, Tang R, Zhou G, Fang C, Zhang J, et al. Evidence for association between the 5' flank of the NOS1 gene and schizophrenia in the Chinese population. Int J Neuropsychopharmacol. 2008;11:1063-71 pubmed publisher
    ..Our results strongly support a previous hypothesis that NOS1 contributes to the genetic risk of schizophrenia and suggest that further research on more NOS1 variants and its regular elements are warranted. ..
  14. Fang Q, Jia W, Gao F, Zhang R, Hu C, Wang C, et al. [Association of variants in APPL1 gene with body fat and its distribution in Chinese patients with type 2 diabetic mellitus]. Zhonghua Yi Xue Za Zhi. 2008;88:369-73 pubmed
    ..05). SNPs (rs3806622 and rs4640525) in APPL1 gene are correlated with body fat distribution in T2DM. ..
  15. Fan L, Zong M, Lu T, Yang L, Ding Y, Ma J. [Association of the PADI4 gene polymorphism and HLA-DRB1 shared epitope alleles with rheumatoid arthritis]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009;26:57-61 pubmed publisher
    ..HLA-DRB1 shared epitope is also an important risky factor for RA. There may exist certain synergistic effect between the PADI4 minor alleles and the HLA-DRB1 shared epitope. ..
  16. Chen B, Cai W, Li J, Cao X. Estimating N-acetyltransferase metabolic activity and pharmacokinetic parameters of isoniazid from genotypes in Chinese subjects. Clin Chim Acta. 2009;405:23-9 pubmed publisher
    ..021). The 95% confidence intervals for prediction error ranged from -3.3%-5.6% for k to -10.5%-37.0% for C(max) of INH. NAT2 genotypes can be used to predict pharmacokinetic parameters of INH. It may be useful in the rational use of INH. ..
  17. Yang Y, Wang L, Wang C, Chen H, Guo Z, Zhang Y, et al. Two novel null alleles of the KEL gene detected in two Chinese women with the K(null) phenotype. Transfus Med. 2009;19:235-44 pubmed publisher
    ..Our study identified these two novel K(null) alleles resulting in the K(null) phenotype, the frequency of the K(null) phenotype amongst Chinese mainlanders is only 0.00228%. ..
  18. Wen J, Rönn T, Olsson A, Yang Z, Lu B, Du Y, et al. Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. PLoS ONE. 2010;5:e9153 pubmed publisher
  19. Lu W, Feng B. The -374A allele of the RAGE gene as a potential protective factor for vascular complications in type 2 diabetes: a meta-analysis. Tohoku J Exp Med. 2010;220:291-7 pubmed
    ..In conclusion, the -374A allele of the RAGE gene might be a protective factor for vascular complications in T2DM, especially in Caucasians and macrovascular disease. ..
  20. He X, Sheng M, Xu M, Xiong C, Ren Z. Rapid identification of common ?-thalassemia mutations in the Chinese population using duplex or triplex amplicon genotyping by high-resolution melting analysis. Genet Test Mol Biomarkers. 2010;14:851-6 pubmed publisher
  21. Zhu J, Wu L, Kohlmeier M, Ye F, Cai W. Association between MTHFR C677T, MTHFR A1298C and MS A2756G polymorphisms and risk of cervical intraepithelial neoplasia II/III and cervical cancer: a meta-analysis. Mol Med Rep. 2013;8:919-27 pubmed publisher
    ..However, limited association is suggested between MTHFR A1298C and MS A2756G polymorphisms with cervical tumorigenesis...
  22. Li J, Shi J, Huang W, Sun J, Wu Y, Duan Q, et al. Variant Near FGF5 Has Stronger Effects on Blood Pressure in Chinese With a Higher Body Mass Index. Am J Hypertens. 2015;28:1031-7 pubmed publisher
    ..Our findings suggest high BMI increases the effect of the blood pressure-increasing allele at rs1458038 near FGF5, further highlighting the importance of obesity prevention in reducing hypertension risk. ..
  23. Lee S, Zhou S, Zhou T, Hong G. Sanger Sequencing for BRCA1 c.68_69del, BRCA1 c.5266dup and BRCA2 c.5946del Mutation Screen on Pap Smear Cytology Samples. Int J Mol Sci. 2016;17:229 pubmed publisher
  24. He Z, Li Z, Shi Y, Tang W, Huang K, Ma G, et al. The PIP5K2A gene and schizophrenia in the Chinese population--a case-control study. Schizophr Res. 2007;94:359-65 pubmed
    ..0039, Odds Ratio=1.440, 95%CI=1.123-1.845) are significantly associated with schizophrenia. Our results confirm that the PIP5K2A gene merits further study as a susceptible gene for schizophrenia. ..
  25. Tang R, Zhao X, Fang C, Tang W, Huang K, Wang L, et al. Investigation of variants in the promoter region of PIK3C3 in schizophrenia. Neurosci Lett. 2008;437:42-4 pubmed publisher
    ..Though we cannot exclude the possibility that susceptibility of -432C-/T is caused by its linkage disequilibrium with other causal variants, our results do support PIK3C3 play a significant role in the etiology of schizophrenia. ..
  26. Fan L, Wang W, Wang Q, Zong M, Yang L, Zhang H, et al. A functional haplotype and expression of the PADI4 gene associated with increased rheumatoid arthritis susceptibility in Chinese. Tissue Antigens. 2008;72:469-73 pubmed publisher
    ..It is concluded that PADI4 SNPs, functional haplotype and PADI4 expression may contribute to an inherited predisposition to RA in a Chinese population. ..
  27. Wang P, Ye L, Guo Z, Zhu Z. [The establishment of the controls for blood group genotyping and the application in the screening of three rare blood groups]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2010;27:634-8 pubmed publisher
    ..The PCR-based SDM technique can be used to obtain the unavailable controls in blood group genotyping. The multiplex PCR technique established in this study is an efficient genotyping method for blood groups Fy(a), s and Ok(a). ..
  28. Waxman D. A unified treatment of the probability of fixation when population size and the strength of selection change over time. Genetics. 2011;188:907-13 pubmed publisher
    ..It is found that changes in population size are not equivalent to the corresponding changes in selection and can result in less drift than anticipated. ..
  29. Jiang K, Shi Y, Zhang J, Xu N. Microsatellite primers for vulnerable seagrass Halophila beccarii (Hydrocharitaceae). Am J Bot. 2011;98:e155-7 pubmed publisher
    ..beccarii from coastal regions of southern China. They also illustrate that these primers may be useful for studying the mating system and population genetics of H. beccarii on a global scale. ..
  30. Wang G, Sun X, Wang G, Wang F, Gao Q, Sun X, et al. Opaque7 encodes an acyl-activating enzyme-like protein that affects storage protein synthesis in maize endosperm. Genetics. 2011;189:1281-95 pubmed publisher
    ..The cloning of O7 revealed a novel regulatory mechanism for storage protein synthesis and highlighted an effective target for the genetic manipulation of storage protein contents in cereal seeds...
  31. Liu Y, Niu W, Wu Z, Su X, Chen Q, Lu L, et al. Variants in exon 11 of MEF2A gene and coronary artery disease: evidence from a case-control study, systematic review, and meta-analysis. PLoS ONE. 2012;7:e31406 pubmed publisher
  32. Zhang L, Chen Y, Wong H, Zhou S, Mamitsuka H, Zhu S. TEPITOPEpan: extending TEPITOPE for peptide binding prediction covering over 700 HLA-DR molecules. PLoS ONE. 2012;7:e30483 pubmed publisher
    ..We further analyzed the motifs detected by TEPITOPEpan, examining the corresponding literature of immunology. Its online server and PSSMs therein are available at ..
  33. Zhang X, Shi M, Shen D, Chen X. Habitat loss other than fragmentation per se decreased nuclear and chloroplast genetic diversity in a monoecious tree. PLoS ONE. 2012;7:e39146 pubmed publisher
    ..Our results suggest that habitat loss explains the early decrease in genetic diversity, while fragmentation per se may play a major role in inbreeding and differentiation among fragmented populations and later loss of genetic diversity. ..
  34. Li Y, Li X, Jia N, Guo S, Chu S, Niu W. Meta-analysis of the association between angiotensin II receptor, type 1 gene A1166C polymorphism and coronary artery disease in Chinese populations. J Renin Angiotensin Aldosterone Syst. 2013;14:82-90 pubmed publisher
    ..Our findings provided strong evidence that AGTR1 gene A1166C polymorphism might be a genetic marker for the development of CAD in Chinese populations, especially in the context of studies with northern and older subjects. ..
  35. Yan N, Yu Y, Yang J, Qin Q, Zhu Y, Wang X, et al. Association of interleukin-17A and -17F gene single-nucleotide polymorphisms with autoimmune thyroid diseases. Autoimmunity. 2012;45:533-9 pubmed publisher
    ..017 and P = 0.029, respectively). In conclusion, the results indicate that IL-17F/rs763780 polymorphisms may affect the susceptibility to AITD, and IL-17A/rs3819025 SNP is likely a protective factor to GD in the Chinese population...
  36. Xia Q, Chen Z, Wang Y, Ma Y, Zhang F, Che W, et al. Association between the melatonin receptor 1B gene polymorphism on the risk of type 2 diabetes, impaired glucose regulation: a meta-analysis. PLoS ONE. 2012;7:e50107 pubmed publisher
    ..This meta-analysis demonstrated that the rs10830963 polymorphism is a risk factor for developing impaired glucose regulation and T2D. ..
  37. Cao Y, Zhang Z, Xu J, Yuan W, Wang J, Huang X, et al. The association of idiopathic recurrent pregnancy loss with polymorphisms in hemostasis-related genes. Gene. 2013;530:248-52 pubmed publisher
    ..83, 95%, CI: 1.10-3.06, P=0.020). This indicated that THBD 1418T allele was associated with increasing the risk of RPL. ..
  38. Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, et al. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature. 2014;506:376-81 pubmed publisher
  39. Amin Al Olama A, Benlloch S, Antoniou A, Giles G, Severi G, Neal D, et al. Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci. Cancer Epidemiol Biomarkers Prev. 2015;24:1121-9 pubmed publisher
    ..We demonstrate that the risk profiling based on SNPs can identify men at substantially increased or reduced risk that could have useful implications for targeted prevention and screening programs. ..
  40. Wang Z, Seow W, Shiraishi K, Hsiung C, Matsuo K, Liu J, et al. Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women. Hum Mol Genet. 2016;25:620-9 pubmed publisher
    ..13 (per-allele OR = 0.89; P = 4.96 × 10(-9)). These findings identified new genetic susceptibility alleles for lung cancer in never-smoking women in Asia and merit follow-up to understand their biological underpinnings. ..
  41. Kiryluk K, Li Y, Moldoveanu Z, Suzuki H, Reily C, Hou P, et al. GWAS for serum galactose-deficient IgA1 implicates critical genes of the O-glycosylation pathway. PLoS Genet. 2017;13:e1006609 pubmed publisher
  42. Li Y, Shao C, Zhang D, Zhao M, Lin L, Yan P, et al. The effect of dopamine D2, D5 receptor and transporter (SLC6A3) polymorphisms on the cue-elicited heroin craving in Chinese. Am J Med Genet B Neuropsychiatr Genet. 2006;141B:269-73 pubmed
    ..The results of our study suggest that human dopamine pathway be involved in cue-induced heroin craving, and indicate a potential genetic risk factor for persistent heroin behavior and relapse. ..
  43. Chu X, Shen M, Xie F, Miao X, Shou W, Liu L, et al. An X chromosome-wide association analysis identifies variants in GPR174 as a risk factor for Graves' disease. J Med Genet. 2013;50:479-85 pubmed publisher
    ..16×10(-3). The finding of an X-linked risk locus for Graves' disease expands our understanding of the role of the X chromosome in disease susceptibility. ..
  44. Pei Y, Xu Y, Niu W. Causal relevance of circulating adiponectin with cancer: a meta-analysis implementing Mendelian randomization. Tumour Biol. 2015;36:585-94 pubmed publisher
    ..There was no observable publication bias. Genetically elevated circulating adiponectin might confer a protective effect against lung cancer, yet a risky effect for colorectal cancer. Further validation is urgently required. ..
  45. Wang X, He G, Gu N, Yang J, Tang J, Chen Q, et al. Association of G72/G30 with schizophrenia in the Chinese population. Biochem Biophys Res Commun. 2004;319:1281-6 pubmed
    ..7 x 10(-4)) and schizophrenia. Our data provide further evidence that markers of the G72/G30 genes are associated with schizophrenia in a non-Caucasian population. ..
  46. Lv K, Guo Y, Zhang Y, Wang K, Jia Y, Sun S. Allele-specific targeting of hsa-miR-657 to human IGF2R creates a potential mechanism underlying the association of ACAA-insertion/deletion polymorphism with type 2 diabetes. Biochem Biophys Res Commun. 2008;374:101-5 pubmed publisher
  47. Peng W, Lu L, Zhang Q, Zhang R, Wang L, Yan X, et al. Chromosome 9p21 polymorphism is associated with myocardial infarction but not with clinical outcome in Han Chinese. Clin Chem Lab Med. 2009;47:917-22 pubmed publisher
    ..This study demonstrates an association of rs1333049 polymorphism locus on chromosome 9p21 with risk for MI, but not with post-MI prognosis in Han Chinese. ..
  48. Liu Z, Jia L, Mao Y, He Y. Classification and quantification of leaf curvature. J Exp Bot. 2010;61:2757-67 pubmed publisher
  49. Wang Y, Qiao W, Zhao X, Tao M. Quantitative assessment of the influence of hematopoietically expressed homeobox variant (rs1111875) on type 2 diabetes risk. Mol Genet Metab. 2011;102:194-9 pubmed publisher
    ..This meta-analysis demonstrated that the C allele of rs1111875 of HHEX is a risk factor associated with increased T2D susceptibility, but these associations vary in different ethnic populations. ..
  50. Wu Z, Lou Y, Jin W, Liu Y, Lu L, Lu G. The C161T polymorphism in the peroxisome proliferator-activated receptor gamma gene (PPAR?) is associated with risk of coronary artery disease: a meta-analysis. Mol Biol Rep. 2013;40:3101-12 pubmed publisher
    ..11, P = 0.913). Taken together, our results revealed the PPAR? C161T polymorphism might play a moderate protective effect on developing CAD among Chinese, but not among Caucasians. ..
  51. Liu H, Deng A, Zhang J, Zhou Y, Yao D, Shen F, et al. [Analysis of HLA alleles polymorphism in Chinese patients with primary biliary cirrhosis]. Zhonghua Gan Zang Bing Za Zhi. 2005;13:410-3 pubmed
  52. Liu F, Liu J, Zheng T, Li Q, Wang C, Pan X, et al. The -1123G>C variant of PTPN22 gene promoter is associated with latent autoimmune diabetes in adult Chinese Hans. Cell Biochem Biophys. 2012;62:273-9 pubmed publisher
    ..In conclusion, the -1123G>C promoter polymorphism of PTPN22 gene, but not the +1858C>T variant, is associated with LADA in adult Chinese Hans. ..
  53. Li H, Su X, Gallegos J, Lu Y, Ji Y, Molldrem J, et al. dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes. BMC Bioinformatics. 2012;13:271 pubmed publisher
    ..For ease of use, we have set up a web service and also provided an R package for dsPIG at ..
  54. Zhang Y, Gan W, Tian C, Li H, Lin X, Chen Y. Association of PPP1R3B polymorphisms with blood lipid and C-reactive protein levels in a Chinese population (PPP1R3B C ). J Diabetes. 2013;5:275-81 pubmed publisher
    ..Genetic polymorphisms of the PPP1R3B gene may contribute to variations in plasma lipids and CRP levels among Chinese Han individuals. ..
  55. Huai C, Song J, Ma Z, Qin X, Li P, Chen H, et al. Allelic variation of the MMP3 promoter affects transcription activity through the transcription factor C-MYB in human brain arteriovenous malformations. PLoS ONE. 2013;8:e57958 pubmed publisher
    ..This novel hypothesis, supported by molecular evidence, explains how this SNP affects MMP3 promoter function and results in a risk of BAVM development. ..
  56. Zhao J, Fu Y, Liu C, Shinohara M, Nielsen H, Dong Q, et al. Retinoic acid isomers facilitate apolipoprotein E production and lipidation in astrocytes through the retinoid X receptor/retinoic acid receptor pathway. J Biol Chem. 2014;289:11282-92 pubmed publisher
    ..Taken together, our results demonstrate that RXR/RA receptor agonists, including several RA isomers, are effective modulators of apoE secretion and lipidation and may be explored as potential drugs for AD therapy...
  57. Sun H, Qian Q, Wu K, Luo J, Wang S, Zhang C, et al. Heterotrimeric G proteins regulate nitrogen-use efficiency in rice. Nat Genet. 2014;46:652-6 pubmed publisher
    ..We conclude that the plant G protein complex regulates nitrogen signaling and modulation of heterotrimeric G protein activity provides a strategy for environmentally sustainable increases in rice grain yield. ..
  58. Niu W, Qi Y, Gao P, Zhu D. A meta-analysis of the bradykinin B2 receptor gene --58C/T polymorphism with hypertension. Clin Chim Acta. 2010;411:324-8 pubmed publisher
    ..22; 95% CI: 0.92-1.61; P=0.17). No publication bias was observed. Our results suggested that -58T allele exhibited a protective effect on hypertension in Asians and African-Americans, yet a risk effect in Caucasians. ..
  59. Hao Y, Xie H, Xu L. [Association between polymorphism of alpha 1-antichymotrypsin and apolipoprotein E gene and Parkinson's disease in Shanghai Hans]. Zhonghua Yi Xue Za Zhi. 2001;81:1172-5 pubmed
    ..05). In AACT-AT genotype the ApoE epsilon 4 allele was associated with PD(OR = 3.26, chi 2 = 5.53 P = 0.019 < 0.05). The AACT-AA genotype and AACT-AT genotype with ApoE epsilon 4 might be susceptible factors for PD in Shanghai Hans. ..
  60. Wang J, Zhao C, Si Y, Liu Z, Chen B, Yu L. ACT and UCH-L1 polymorphisms in Parkinson's disease and age of onset. Mov Disord. 2002;17:767-71 pubmed
    ..557 (95% C.I. = 0.314-0.985; P = 0.043). These data suggest that ACT polymorphism does not influence the risk for developing PD. UCH-L1 S18Y polymorphism, however, may be a weak protective factor against early-onset PD. ..
  61. Sun P, Zhang Z, Wan J, Shao M. [Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning]. Wei Sheng Yan Jiu. 2007;36:11-5 pubmed
    ..Those subjects carrying TAATGG haplotype of UGT1A6 could increase the risk of BP. Further studies should be needed on the association between the genetic polymorphisms in GSTP1 and the risk of BP. ..
  62. Sun L, Wu X, Han M, Xu T, Zhuang Y. A mitotic recombination system for mouse chromosome 17. Proc Natl Acad Sci U S A. 2008;105:4237-41 pubmed publisher
  63. Lin R, Wang X, Wang Y, Zhang F, Wang Y, Fu W, et al. Association of polymorphisms in four bilirubin metabolism genes with serum bilirubin in three Asian populations. Hum Mutat. 2009;30:609-15 pubmed publisher
    ..Finally, we observed that significant differences of TBIL levels existed among the three populations; however, this could not be completely explained by the differences at the (TA)n repeat polymorphism and SNP rs4148323:G>A. ..
  64. Chen Q, Lu L, Peng W, Hu J, Yan X, Wang L, et al. Polymorphisms of MMP-3 and TIMP-4 genes affect angiographic coronary plaque progression in non-diabetic and type 2 diabetic patients. Clin Chim Acta. 2009;405:97-103 pubmed publisher
    ..This study demonstrated that MMP-3 and TIMP-4 polymorphisms affect angiographic coronary PP in type 2 diabetic and non-diabetic patients. ..
  65. Fu H, Zhang S, Wang X, Saheki T, Kobayashi K, Wang J. The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia. J Gastroenterol. 2011;46:510-8 pubmed publisher
    ..The SLC25A13 gene mutation is the most important cause of infantile intrahepatic cholestasis with various forms of aminoacidemia. ..
  66. Cai L, Huang W, Chou K. Prostate cancer with variants in CYP17 and UGT2B17 genes: a meta-analysis. Protein Pept Lett. 2012;19:62-9 pubmed
    ..These findings also support the idea that CYP17 has no significant effects on androgen levels, while UGT2B17 does. ..
  67. Ding G, Xu W, Liu H, Zhang M, Huang Q, Liao Z. CYP1A1 MspI polymorphism is associated with prostate cancer susceptibility: evidence from a meta-analysis. Mol Biol Rep. 2013;40:3483-91 pubmed publisher
    ..TT) = 1.33, 95% CI 1.12-1.58, P(OR) = 0.001), but not in Caucasians or mixed populations. The meta-analysis suggests an important role of the CYP1A1 MspI polymorphism in the risk of developing prostate cancer, especially in Asians. ..
  68. Wu D, Wang F, Dai W, He L, Lu J, Xu L, et al. The miR-146a rs2910164 G > C polymorphism and susceptibility to digestive cancer in Chinese. Asian Pac J Cancer Prev. 2013;14:399-403 pubmed
    ..This meta-analysis suggests that the miR-146a rs2910164 G > C polymorphism is a low-penetrant risk factor for digestive cancers in Chinese. ..
  69. Zhao Y, Chen Z, Rewuti A, Ma Y, Wang X, Xia Q, et al. quantitative assessment of the influence of cytochrome P450 1A2 gene polymorphism and colorectal cancer risk. PLoS ONE. 2013;8:e71481 pubmed publisher
    ..No significant heterogeneity was detected in most of comparisons. This meta-analysis suggests that the CYP1A2 *F and *C polymorphism is a protective factor against CRC among Asians. ..
  70. Liu R, Zhao X, Liu X, Chen Z, Qiu L, Geng R, et al. Influences of ERCC1, ERCC2, XRCC1, GSTP1, GSTT1, and MTHFR polymorphisms on clinical outcomes in gastric cancer patients treated with EOF chemotherapy. Tumour Biol. 2016;37:1753-62 pubmed publisher
    ..001), respectively. These results suggest that the prognostic index comprising XRCC1 rs25487, ERCC2 rs13181, and rs1799793 polymorphisms may be a useful predictor of clinical outcomes in MGC treated with EOF. ..
  71. Wang M, He J, Zhu M, Teng X, Li Q, Sun M, et al. A Functional Polymorphism (rs2494752) in the AKT1 Promoter Region and Gastric Adenocarcinoma Risk in an Eastern Chinese Population. Sci Rep. 2016;6:20008 pubmed publisher
    ..Our results suggest that the potentially functional AKT1 rs2494752 SNP may affect GCa susceptibility, likely by modulating the AKT1 promoter transcriptional activity. Larger, independent studies are warranted to validate our findings. ..
  72. Wu Z, Ma T, Coll J, Liu F, Zhang H, Ma Y, et al. Detection of KRAS mutations using double-stranded toehold-exchange probes. Biosens Bioelectron. 2016;80:175-181 pubmed publisher
    ..Combining features of extreme high specificity and robustness, this probe is a valuable tool for reliable diagnosis of cancer-related mutations. ..
  73. Che R, Tang W, Zhang J, Wei Z, Zhang Z, Huang K, et al. No relationship between 2',3'-cyclic nucleotide 3'-phosphodiesterase and schizophrenia in the Chinese Han population: an expression study and meta-analysis. BMC Med Genet. 2009;10:31 pubmed publisher
    ..Our meta-analysis produced similar negative results. The results suggest that the CNP gene may not be involved in the etiology and pathology of schizophrenia in the Chinese population. ..
  74. Gu X, Qi P, Zhou F, Ji Q, Wang H, Dou T, et al. An intronic polymorphism in the corticotropin-releasing hormone receptor 2 gene increases susceptibility to HBV-related hepatocellular carcinoma in Chinese population. Hum Genet. 2010;127:75-81 pubmed publisher
    ..61, 95% CI 1.13-2.31, P = 0.009). These results suggest that the rs2267716 polymorphism in the CRHR2 gene might influence the risk of developing HCC in patients with HBV infection in Chinese population. ..
  75. Lu W, Liu F, Niu W. [Relationship of gallstone formation after radical gastrectomy with the polymorphisms of apolipoprotein B Xba I and lipoprotein lipase Hind III gene]. Zhonghua Wei Chang Wai Ke Za Zhi. 2010;13:68-71 pubmed
    ..To investigate the relationship of gallstone formation after radical gastrectomy with the polymorphisms of apolipoprotein B (ApoB) Xba I gene and lipoprotein lipase (LPL) Hind III gene...
  76. Wang Y, Zhang J, Liu B, Shao L, Wei Z, Li X, et al. Genetic polymorphisms in the SCN8A gene are associated with suicidal behavior in psychiatric disorders in the Chinese population. World J Biol Psychiatry. 2010;11:956-63 pubmed publisher
    ..024; rs1601012, P=0.004; rs12581041, P=0.004). Our findings suggest that the SCN8A gene may be involved in the susceptibility to suicidal behavior among psychiatric disorder patients in the Han Chinese population. ..
  77. Li J, Wu X, Li X, Feng G, He L, Shi Y. The endothelial nitric oxide synthase gene is associated with coronary artery disease: a meta-analysis. Cardiology. 2010;116:271-8 pubmed publisher
    ..No publication bias was found in the meta-analysis. The synthesis of available evidence supports the fact that eNOS G894T andT-786C are associated with CAD. ..
  78. Liu Y, He Z, Feng D, Shi G, Gao R, Wu X, et al. Cytotoxic T-lymphocyte antigen-4 polymorphisms and susceptibility to osteosarcoma. DNA Cell Biol. 2011;30:1051-5 pubmed publisher
    ..23-2.95, p?=?0.007; OR 1.32, 95% CI 1.03-1.69, p?=?0.029, and OR?=?1.47, 95% CI 1.03-2.09, p?=?0.033, respectively). The CTLA-4 +49G/A polymorphism and GTAG haplotype are associated with increased risk of osteosarcoma. ..
  79. Gu T, Guo F, Yang H, Wu H, Xu G, Liu W, et al. The role of Tet3 DNA dioxygenase in epigenetic reprogramming by oocytes. Nature. 2011;477:606-10 pubmed publisher
    ..Therefore, Tet3-mediated DNA hydroxylation is involved in epigenetic reprogramming of the zygotic paternal DNA following natural fertilization and may also contribute to somatic cell nuclear reprogramming during animal cloning...
  80. Wu J, Wu J, Zhou Y, Zou H, Guo S, Liu J, et al. Quantitative assessment of the variation in IGF2BP2 gene and type 2 diabetes risk. Acta Diabetol. 2012;49 Suppl 1:S87-97 pubmed publisher
    ..This meta-analysis demonstrated that these two common polymorphisms is a risk factor for developing T2D, but these associations vary in different ethnic populations. ..
  81. Xiang C, Gao H, Meng L, Qin Z, Ma R, Liu Y, et al. Functional variable number of tandem repeats variation in the promoter of proto-oncogene PTTG1IP is associated with risk of estrogen receptor-positive breast cancer. Cancer Sci. 2012;103:1121-8 pubmed publisher
  82. Chen H, Yu K, Xu G. Association between variant Y402H in age-related macular degeneration (AMD) susceptibility gene CFH and treatment response of AMD: a meta-analysis. PLoS ONE. 2012;7:e42464 pubmed publisher
    ..It might be the first meta-analytically confirmed genetic marker predictive for AMD treatment response though a further validation in larger studies is needed. ..
  83. Zhang C, Li C, Zhu M, Zhang Q, Xie Z, Niu G, et al. Meta-analysis of MMP2, MMP3, and MMP9 promoter polymorphisms and head and neck cancer risk. PLoS ONE. 2013;8:e62023 pubmed publisher
    ..This meta-analysis suggests that the MMP2-1306 C>T polymorphism is associated with HNC risk, as is the MMP3-1171 5A>6A polymorphism specifically in some subgroups. Further studies with larger sample sizes are warranted. ..
  84. Wang M, Zhu M, He J, Shi T, Li Q, Wang Y, et al. Potentially functional polymorphisms in the CASP7 gene contribute to gastric adenocarcinoma susceptibility in an eastern Chinese population. PLoS ONE. 2013;8:e74041 pubmed publisher
    ..Potentially functional CASP7 variants may contribute to risk of gastric cancer. Larger studies with different ethnic populations are warranted to validate our findings. ..
  85. Zhou X, Wang L, Du Y, Xie F, Li L, Liu Y, et al. Efficient Generation of Gene-Modified Pigs Harboring Precise Orthologous Human Mutation via CRISPR/Cas9-Induced Homology-Directed Repair in Zygotes. Hum Mutat. 2016;37:110-8 pubmed publisher
  86. Shan Y, Shen N, Han L, Chen Q, Zhang J, Long X, et al. MicroRNA-499 Rs3746444 polymorphism and biliary atresia. Dig Liver Dis. 2016;48:423-8 pubmed publisher
    ..37; 95% CI, 1.08-1.83). MiR-499 (rs3746444) gene polymorphisms may be genetic determinants for increased risk of BA and prolonged recovery of BA patients after liver transplantation in Han Chinese. ..
  87. Han M, Zheng W, Cai Q, Gao Y, Zheng Y, Bolla M, et al. Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians. Carcinogenesis. 2017;38:511-518 pubmed publisher
    ..These results provide further insights that, in addition to the high/moderate penetrance mutations, other low-penetrance variants in these genes may also contribute to breast cancer risk. ..
  88. Wang Y, Ma T, Zhu Y, Chu X, Yao S, Wang H, et al. The KSR2-rs7973260 Polymorphism is Associated with Metabolic Phenotypes, but Not Psychological Phenotypes, in Chinese Elders. Genet Test Mol Biomarkers. 2017;21:416-421 pubmed publisher
    ..However, the KSR2-rs7973260?A allele exhibited pleiotropic effects on some metabolic phenotypes in Chinese elders. These effects should be validated in future studies. ..
  89. Tang G, Ren D, Xin R, Qian Y, Wang D, Jiang S. Lack of association between the tryptophan hydroxylase gene A218C polymorphism and attention-deficit hyperactivity disorder in Chinese Han population. Am J Med Genet. 2001;105:485-8 pubmed
    ..Therefore, our data indicate that the TPH gene A218C polymorphism may not be a susceptibility factor of ADHD in the Chinese Han population. ..
  90. Li J, Lees Murdock D, Xu G, Walsh C. Timing of establishment of paternal methylation imprints in the mouse. Genomics. 2004;84:952-60 pubmed
    ..5 in male germ cells. This study also indicates important differences between different imprinted DMR in timing and extent of methylation in the germ cells. ..
  91. Chen R, Fang M, Cai Q, Duan S, Lv K, Cheng N, et al. Tumor necrosis factor alpha -308 polymorphism is associated with rheumatoid arthritis in Han population of Eastern China. Rheumatol Int. 2007;28:121-6 pubmed
    ..These results implied that TNFalpha gene itself or a gene in linkage disequilibrium with it might be associated with RA in Han population of Eastern China. ..
  92. Zhang Z, Xin D, Wang P, Zhou L, Hu L, Kong X, et al. Noisy splicing, more than expression regulation, explains why some exons are subject to nonsense-mediated mRNA decay. BMC Biol. 2009;7:23 pubmed publisher
    ..We conclude that for recently evolved exons the noisy splicing model is the better explanation of their properties, while for ancient exons the nonsense-mediated decay regulated gene expression is a viable explanation. ..