Association of single nucleotide polymorphisms of rs77418916 and rs8108402 in the miR-181 gene and risk of systemic lupus erythematosus in Chinese population of Guangxi region / 临床检验杂志

Objective To investigate the associations of single nucleotide polymorphism of ( SNP ) of rs77418916 and rs8108402 in miR-181 with the risk of systemic lupus erythematosus ( SLE) in the Chinese population of Guangxi. Methods The lymphocyte sub-sets were analyzed by flow cytometry. The SNPs of miR-181 gene were detected by single nucleotide primer extension assay with SNaP-shot and DNA sequencing method. The relative expressions of miR-181a and miR-181c in mononuclear cells were detected by real time RT-quantitative PCR. Results The polymorphism of rs8108402 locus contained CC, CT and TT genotypes. The frequencies of CT and TT genotypes as well as the dominant and recessive model were different significantly between SLE group and control group ( CT vs CC:OR=1.50, 95％CI:1.03 to 2.19, P=0.033; TT vs CC: OR=2.65, 95％CI: 1.18 to 5.98, P=0.019; CC/CT vs TT: OR=2.23, 95％CI:1.01 to 4.93, P=0.048;TT/CT vs CC:OR=1.61, 95％CI:1.12 to 2.31, P=0.010) . The polymorphism of rs77418916 locus contain AA, AT and TT genotypes, but no association between rs77418916 polymorphism and susceptibility of SLE was found. The rel-ative expressions of miR-181a and miR-181c genes in SLE group were down-regulated compared with control group ( Z=-3. 22, P<0.01 and Z=-3.24, P<0.01, respectively) , and the patients carrying rs8108402 CT and TT genotype showed lower level of miR-181c compared with the patients carrying CC genotype (Z=-2.51, P<0.05). The absolute numbers of CD3+, CD4+, CD8+ and NK cells were decreased significantly in SLE group compared with that of control group ( P<0.01) . Conclusion The polymorphism of miR-181c rs8108402 may associate with the susceptibility of Chinese SLE patients in Guangxi region. The risk of SLE may increase in the individ-uals caring CT or TT genotype by decreasing the expression of miR-181c gene.

Relationship between osteopontin gene genetic polymorphisms and susceptibility of nasopharyngeal carcinoma in Guangxi Zhuang people / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To evaluate the relationship between osteopontin gene genetic polymorphisms and susceptibility of nasopharyngeal carcinoma in Guangxi Zhuang people.</p><p><b>METHODS</b>With a hospital based case-control study, osteopontin gene polymorphisms were compared between patients with nasopharyngeal carcinoma and healthy outpatients as a controls in Zhuang population in Guangxi. The single nucleotide polymorphisms at rs1126772 and rs9138 sites of the osteopontin gene were determined by polymerase chain reaction-single base extension technique (PCR-SBE) and DNA sequencing technology. The comparison between genotype and allele frequency distribution differences in case and control group was accomplished by a χ(2) test. The frequencies of haplotypes in osteopontin gene in different groups were analyzed.</p><p><b>RESULTS</b>There were no differences between the patients and controls in the genotype or allele frequencies of osteopontin gene rs1126772 site (</p><p><b>GA/GG</b>OR = 0.94, 95%CI 0.37-2.37, χ(2) = 0.182, P = 0.891; AA/GG:OR = 0.86, 95%CI 0.35-2.12, χ(2) = 0.834, P = 0.773) or rs9138 site (</p><p><b>CA/CC</b>OR = 1.42, 95%CI 0.88-2.29, χ(2) = 2.023, P = 0.155; AA/CC:OR = 1.77, 95%CI 0.78-4.01, χ(2) = 1.901, P = 0.168). The frequency of GA haplotype in the patients was significantly higher than that in the controls (P = 0.003), and the GA haplotype was associated with a significantly increased risk of nasopharyngeal carcinoma (OR = 4.84, 95%CI 1.59-14.71).</p><p><b>CONCLUSION</b>The haplotype GA of osteopontin gene rs1126772 and rs9138 sites increases the risk of nasopharyngeal carcinoma in Guangxi Zhuang people.</p>

Association of Toll-like receptor 7 and Toll-like receptor 9 single nucleotide polymorphisms with chronic hepatitis C virus infection / 中华临床感染病杂志

Objective To analyze the association of the single nucleotide polymorphism (SNP) of Toll-like receptor 7 (TLR7) and Toll-like receptor 9 (TLR9) with chronic hepatitis C virus (HCV)infection.Methods A total of 150 patients with chronic hepatitis C (CHC) admitted to Renmin Hospital of Wuhan University from January 2011 to May 2012 and 168 healthy controls were enrolled in the study.The genotypes of TLR7 IVS2-151 (rs179009) were detected by Sanger sequencing,and the genotypes of TLR9 T-1486C (rs187084) were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).SPSS 15.0 was used for statistical analysis,and goodness-of-fit test for HardyWeinberg equilibrium was also performed.Results The frequency of TLR7 IVS2-151G was higher in malepatients with CHC than that in male controls (41.4％ vs.21.6％,x2 =7.250,P =0.007,OR =0.389,95％ CI:0.194-0.781) ; however the female CHC patients had a higher frequency of TLR7 IVS2-151A than the female controls (76.9％ vs.63.1％,x2 =7.202,P =0.007,OR =1.942,95％ CI:1.192-3.164).No significant difference in the distribution of TLR9 T-1486C (rs187084) gene SNP was observed betweenCHC and control groups (P ＞0.05).Conclusion TLR7 IVS2-151 (rs179009) is correlated with HCV infection,which may be involved in the pathogenesis of CHC.