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DQB1*060101 may contribute to susceptibility to immunoglobulin A nephropathy in southern Han Chinese

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《医学前沿（英文）》 2016年 第10卷 第4期   页码 507-516 doi: 10.1007/s11684-016-0475-6

摘要：

Immunoglobulin A nephropathy (IgAN) is a common form of chronic glomerulonephritis with unknown pathogenesis. Accumulating evidences have shown the ethnic-specific association between certain human leukocyte antigen (HLA) alleles and IgAN susceptibility. This study was designed to explore the relationship between HLA-DQB1 alleles and disease susceptibility and clinical manifestations of patients with IgAN in southern Han Chinese. A PCR sequence-based typing technique was used to detect HLA-DQB1 alleles in 217 IgAN patients and 229 healthy subjects. Clinical data were collected from each patient at the time of renal biopsy. Twenty HLA-DQB1 alleles were detected in IgAN patients and healthy subjects. High frequency of HLA-DQB1*060101 and low frequency of HLA-DQB1*030101 were observed in IgAN patients compared with healthy controls. Further stratification analysis revealed that the frequency of DQB1*060101 was significantly higher in patients with urine protein≥1.0 g/24 h than in patients with urine protein<1.0 g/24 h. In combination with our previous DRB1 results, we also analyzed the association of DRB1-DQB1 haplotypes with IgAN. We found that the frequency of haplotype DRB1*090102-DQB1*060101 was significantly higher [odds ratio (OR) = 4.409, Pc = 0.016], whereas that of HLA-DRB1*070101-DQB1*020101 was significantly lower (OR= 0.194, Pc = 0.016) compared with healthy controls. Our study indicated that HLA-DQB1*060101 alleles may be a potential predictor of high-risk IgAN susceptibility in Chinese Han population.

关键词： DQB1     human leukocyte antigen (HLA)     IgA nephropathy     haplotype     association study    

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Association of the genetic polymorphism of EPHX1 and EPHX2 with the susceptibility to chronic benzene poisoning

SUN Pin, ZHANG Zhongbin, WU Fen, WAN Junxiang, JIN Xibeng, XIA Zhaolin

《医学前沿（英文）》 2007年 第1卷 第3期   页码 320-326 doi: 10.1007/s11684-007-0062-y

摘要： The aim of this study was to explore the association of the genetic polymorphism of and with the susceptibility to chronic benzene poisoning (CBP). A case-control study of 268 patients with CBP and 268 healthy workers matched by age and sex, all of whom were occupationally exposed to benzene, was conducted. The single nucleotide polymorphisms (SNPs, rs2854451, rs3738047, rs2234922 and rs1051741) of gene and the SNP (rs751141) of gene were tested by the TaqMan PCR method. In the subjects carrying the genotype of rs3738047 GG, the risk of CBP was decreased in the individuals simultaneously carrying rs2234922 G ( = 0.02). Alternatively, in the subjects carrying the genotype of rs2234922 AA, the risk of CBP was increased in the individuals simultaneously carrying the allele of rs751141A ( = 0.03). It was also found that there were potential interactions between alcohol consumption and the polymorphism of rs1051741 ( = 5.28, = 0.02) or rs2234922 (= 6.71, = 0.01). Compared to individuals with rs1051741 CC or rs2234922 AA genotype in the drinkers, the risk of CBP in those carrying genotypes of rs1051741 CT+TT or rs2234922 AG+GG was decreased, respectively ( = 0.04, 〈0.01). Haplotype analysis of polymorphisms in showed that the risk of CBP was increased in the subjects with haplotype 2 (rs2854451-A, rs3738047-G, rs2234922-A, rs1051741-C) or haplotype 4 (rs2854451-G, rs3738047-A, rs2234922-G, rs1051741-T), but decreased in those with haplotype 6 (rs2854451-G, rs3738047-G, rs2234922-G, rs1051741-T) or haplotype 10 (rs2854451-A, rs3738047-A, rs2234922-G, rs1051741-T), respectively. Logistic regression analysis revealed that smoking might play a role in modifying the risk of CBP (OR = 0.313, 95% CI: 0.123 0.794, = 0.015). The genetic polymorphism in may be associated with the risk of CBP in the Chinese occupational population and further research is needed for the association between the genetic polymorphism in and the susceptibility to CBP.

关键词： case-control     rs2854451     regression analysis     haplotype     further research    

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Association of novel mutations and heplotypes in the preS region of hepatitis B virus with hepatocellular carcinoma

Jia-Xin XIE, Jian-Hua YIN, Qi ZHANG, Rui PU, Wen-Ying LU, Hong-Wei ZHANG, Guang-Wen CAO, Jun ZHAO, Hong-Yang WANG,

《医学前沿（英文）》 2010年 第4卷 第4期   页码 419-429 doi: 10.1007/s11684-010-0160-0

摘要： The association of viral mutations and haplotypic carriages with mutations in the preS region of hepatitis B virus (HBV) genotypes B and C with hepatocellular carcinoma (HCC) is of great significance for the prediction of this malignancy, but it remains obscure. We analyzed the preS sequences of HBV genotypes B and C from 1172 HBV-infected subjects including 231 patients with HCC. As compared with the HBV-infected subjects without HCC, C2875T, G2946C, A3054C, C3060A, T3066C, C3116T, A3120C, G3191A, A1C, C7A, C10A, A31C, C76T, G105C, and G147C in both genotypes were significantly associated with increased risks of HCC. C2875A, G2950A, G2951A, A3054T, C3060T, T3066A, T3069G, A3120T, and G3191C were significantly associated with increased risks of HCC in genotype C, whereas these mutations were inversely associated with HCC in genotype B. Multivariate regression analyses showed that C76A/T was a novel factor independently associated with an increased risk of HCC, as compared with those without HCC. The frequencies of haplotypes 2964A-3116T-preS2 start codon wild-type-7C, 2964C-3116T-7A-76C, and 2964A-3116T-7C-76A/T were significantly higher in the patients with HCC (<0.001), whereas a haplotypic carriage with a single mutation and another three wild-types were inversely associated with HCC. Conclusively, the association of HBV mutations in the preS region with HCC depends on HBV genotype and haplotypic carriage with two or more mutations that are each associated with an increased risk of HCC independently.

关键词： hepatitis B virus     hepatocellular carcinoma     mutation     genotype     haplotype    

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标题 作者 时间 类型 操作

DQB1*060101 may contribute to susceptibility to immunoglobulin A nephropathy in southern Han Chinese

null

期刊论文

Association of the genetic polymorphism of EPHX1 and EPHX2 with the susceptibility to chronic benzene poisoning

SUN Pin, ZHANG Zhongbin, WU Fen, WAN Junxiang, JIN Xibeng, XIA Zhaolin

期刊论文

Association of novel mutations and heplotypes in the preS region of hepatitis B virus with hepatocellular carcinoma

Jia-Xin XIE, Jian-Hua YIN, Qi ZHANG, Rui PU, Wen-Ying LU, Hong-Wei ZHANG, Guang-Wen CAO, Jun ZHAO, Hong-Yang WANG,

期刊论文