Purpose: Polymorphisms of several candidate genes have been studied and associ- ated with the development of chronic obstructive pulmonary disease (COPD). One such candidate is the SERPINE2 (Serpin peptidase inhibitor, clade E member 2) gene. Materials and Methods: To assess whether the SERPINE2 gene is associat- ed with COPD in a ChineseHanpopulation. Samples were collected from a Chi- nese Hanpopulation and analyzed for the association of single nucleotide polymor phisms (SNPs) or haplotypes of SERPINE2 gene with COPD in a case-control study. Three SNPs including rs840088 G/A in intron 1, rs1438831 A/G in 5’ up- stream sequence and rs3795879 G/A in intron 3 were detected using the poly- merase chain reaction (PCR)-based restriction fragment length polymorphism technique in 409 COPD subjects and 411 controls. Genotyping of the SREPINE2 polymorphisms at positions rs840088, rs1438831and rs3795879 was performed. Results: We found that none of the rs840088G/A, rs1438831G/A and rs3795879 G/A polymorphisms were associated with the disease. The p-values were 0.630, 0.208 and 0.398 respectively. Conclusion: Our data suggested that there was no significant association between SERPINE2 polymorphism and COPD susceptibility in the ChineseHanpopulation.
After cleavage by a metalloproteinase (ADAM- 10), membrane-bound CXCL16 is released extracellularly in a soluble form  that causes inflammatory cells to aggregate and infiltrate the lesion, promotes angiogenesis and the for- mation of atherosclerosis and impacts the sta- bility of artery plaques [10, 13, 14]. However, the cleavage site that generates the serum- soluble form of CXCL16 is located in the mucin domain, which is also where the rs2277680 polymorphism is located. Chandrasekar found that CXCL16 promotes the proliferation of smooth muscle cells and adhesion between cells, reduces muscle cell damage and im- pedes the migration of monocytes to sub-endo- thelial tissues through the P13K pathway. Thus, it can prevent the formation of foam cells and inhibit the process of atherosclerosis . Yi GW found that the concentration of serum- soluble CXCL16 was closely related to the severity of coronary atherosclerotic heart dis- ease and the extent of coronary artery stenosis . Lundberg found that the rs2277680 poly- morphism was not associated with the risk of coronary atherosclerotic heart disease but was related to the extent of coronary artery stenosis . Luo Yongbai researched the relationship between acute coronary syndrome (ACS) and the rs2277680 polymorphism and found that the CXCL16 gene rs2277680 polymorphism was closely related to ACS susceptibility in a ChineseHanpopulation in Xian province. ACS susceptibility was significantly higher for indi- viduals with the AA genotype than for those with the GG genotype, and the A allele was associated with a significantly higher risk of ACS than the G allele . Although there are some differences between the results of these studies, overall, they suggested that the rs2277680 polymorphism is related to coro- nary atherosclerosis.
In current hospital based case-control study, we assessed the association between the poly- morphisms of three SNPs of MMPs (MMP2 rs243865 and MMP3 rs3025058) and risk of RCC in ChineseHanpopulation and found the significant association betweenMMP2 rs243- 865 polymorphisms and risk of RCC. The geno- type and allele distribution of polymorphisms rs243865 of MMP2 genotypes were signifi- cantly different between case and control gro- ups, indicating that this SNP might be related to RCC development. To the best of our knowl- edge, our study is the first report to describe the possible role of MMP2 and 3 gene polymor- phisms as a risk factor for RCC and found that MMP2 rs243865 genotype variations do influ- ence susceptibility to RCC development in the ChineseHanpopulation.
ligand-activated transcription factor belonging to the nuclear hormone receptor superfamily. The activity of PGC-1 α or genetic variations in the gene encoding the enzyme may contribute to individual variations in mitochondrial function and insulin resistance or diabetes. The objective of this study was to assess the extent to which PPARGC1A (rs8192678) and serum uric acid (UA) and its interaction impact on T2DM susceptibility in ChineseHanpopulation. Method: We conducted a study in a cohort that included 1166 T2DM patients and 1135 controls, and was genotyped for the presence of the PPARGC1A rs8192678 polymorphisms. Genotyping was performed by iPLEX technology. The association between rs8192678 or UA and T2DM was assessed by univariate and multivariate logistic regression (MLR) analysis controlling for confounders. The interaction between rs8192678 and UA for T2DM susceptibility was also assessed by MLR analysis.
Abstract: Objective: In order to investigate whether CARD9 gene is associated with IBD in ChineseHanpopulation, we replicated 2 SNPs of CARD9 which have been reported to be significantly associated with IBD. Methods: Two SNPs were genotyped using polymerase chain reaction with sequence-specific primers in 288 patients (232 CD pa- tients, 56 UC patients) and 274 controls. Results: The frequencies and distributions of alleles and genotypes of the tested SNPs were analyzed, and no significant differences were found between patients and controls. Conclusions: We observed no significant association between the investigated CARD9 SNPs and the susceptibility of either CD or UC. Further studies with larger sample size focusing on different ethnicities are required to elucidate the correlation between CARD9 and IBD.
Abstract: This study aimed to examine the association of rs1333040 SNPs and several risk and environmental fac- tors with acute myocardial infarction (AMI). The association of rs1333040 single nucleotide polymorphisms (SNPs) within the cyclin-dependent kinase inhibitor 2B antisense RNA1 (CDKN2B-AS1) gene with AMI has been confirmed in some European populations. However, at the time this study was initiated, no rs1333040 SNPs had been as- sociated with AMI in Chinese individuals. Genotypes of rs1333040 were determined in 334 AMI patients and 334 healthy controls from a ChineseHanpopulation by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), and then confirmed by direct sequencing. The TT genotype of rs1333040 was positively correlated with AMI risk (P < 0.001). The frequency of the C allele of rs1333040 in patients with diagnosis time (DT) > 12 h was lower than that in patients with shorter DT (P < 0.05), with no differences in typical symptoms, serious complications, and infarction location (P > 0.05 for each). There were interactions between the rs1333040 SNP genotype (TT, TC, or CC), and patients who smoked ≥ 20 cigarettes/day (P < 0.017). The rs1333040 TT genotype was positively correlated with the risk of AMI. For the first time, we discovered that the C allele of rs1333040 was significantly correlated with DT ≤ 12 h of AMI. Also, the interaction between the minor C allele of rs1333040 and smoking appears to increase the risk of AMI.
Results: We found two single nucleotide polymorphisms (SNPs) in CCL11 were associated with ischemic stroke. After adjusting for multiple testing using false discovery rate (FDR) with a 0.20 cut-off point, CCL11 rs4795895 remained statistically significant. We further stratified the study population by their hypertension status. In the hypertensive group, CCR2 rs1799864, CCR5 rs1799987 and CCL11 rs4795895 were nominally associated with increased risk of stroke. In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LTA rs909253 and CCL11 rs4795895 were associated with ischemic stroke. After correction for multiple testing, CCR2 rs1799864 and CCR5 rs1799987 remained significant in the hypertensive group, and CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LTA rs909253 remained significant in the non-hypertensive group. Conclusions: Our results indicate that inflammatory genetic variants are associated with increased risk of ischemic stroke in a ChineseHanpopulation, particularly in non-hypertensive individuals.
In our case-control study, we evaluated seven SNPs associated with LC susceptibility in a ChineseHanpopulation and our found that rs2738780 and the ‘‘CTC’’ haplotype are associated with decreased LC risk. The RTEL1 gene, located on 20q13.3, encodes an essential helicase that plays a crucial role in mitotic and meiotic DNA double-stranded break repair [18, 20]. Double-stranded break functional consequences include
Overall, we found a positive association between SNP rs708567 and the susceptibility to and curve severity of AIS in a ChineseHanpopulation. Unfortunately, the specific influence of SNP rs708567 on IL-17RC gene function remains unknown. As described by Dormans JP et al., SNP rs708567 is a common missense mutation (S111 L) within the IL-17RC gene, suggesting that syner- gistic interactions between SNP rs708567 and other polymorphisms may play an important role in impairing IL-17RC gene function. Therefore, further investigations will be performed using the method of pair-wise linkage disequilibrium (LD) analysis in our next study to clarify the possible synergistic interactions between SNP rs708567 and other polymorphisms and their effect on the susceptibility to AIS. In addition, a potential limita- tion that should not be ignored is the false-negative re- sult of the Adam forward-bending test, which may lead to an ascertainment bias with regard to the controls. Therefore, further investigations using other samples are necessary to confirm this positive association.
The study population has been previously described . Briefly, from January 2003 to August 2008, 398 patients undergoing coronary angiography (CAG) for chest dis- comfort or suspected CAD were enrolled in this study, including 180 patients (men age 32-54 years and women age 39-64 years) with documented premature CAD  and 218 subjects without coronary stenosis, acting as controls. CAD was defined as a significant coronary ste- nosis (≥ 50%) in at least one of the 3 main coronary arteries or their major branches (branch diameter ≥ 2 mm) assessed by CAG or having experienced a myocar- dial infarction (MI) defined according to World Health Organization criteria. All patients with type 1 diabetes mellitus, congenital heart disease, syndrome X, severe liver or kidney disease, or noncoronary artery thrombo- tic disease were excluded from this study. The study was approved by the Medical Ethics Committee of the Affiliated ZhongDa Hospital of Southeast University. Before enrollment, the trial information was explained carefully to each patient, and subsequently written informed consent was obtained from all participants.
We studied samples from Department of Endocrin- ology, the First Affiliated Hospital of Xi’an Jiaotong Uni- versity Health Science Center, and Department of Endocrinology, Jinshan Hospital of Fudan University. The case groups including 1028 patients with AITDs cohort consisted of 676 in GD subgroup (208 males and 468 females, mean age of 36.918 years) and 352 in HT subgroup (44 males and 308 females, mean age of 34.774 years). The subjects in our study were not related to each other. Diagnostic basis for GD was typical high metabolic syndrome, different degrees of diffuse goiter, laboratory examination indicating hyperthyroidism and positive antibody against TSH receptor (TRAb). HT was confirmed by goiter, thyroid antibody against Tg (TgAb) or antibody against thyroid peroxidase (TPOAb) or even thyroid puncture pathological examination. The control group included 897 healthy controls (300 males and 597 females, mean age of 38.734 years), who were all screened for absence of thyroid goiter and personal or family history of thyroid diseases and any autoimmune diseases. The thyroid function was in the normal range. All subjects were ethnic ChineseHan and signed in- formed consent at each site. The study was approved by the Ethics Committee of Jinshan Hospital of Fudan University.
Xi’an Jiaotong University. Patients who had a history of chronic HBV infection for more than 6 months and had not been treated with nucleos(t)ide analogues or inter- feron (IFN)-α and other immunotherapy were eligible for inclusion. The diagnosis of the clinical diseases, namely, chronic hepatitis, liver cirrhosis, and HCC, in the patients was based on a history of HBV infection more than 6 months, and serostatus of HBV infection markers, HBV DNA level, biochemical liver function, α- fetoprotein (AFP) level, ultrasonography and/or comput- erized tomography (CT)/magnetic resonance imaging (MRI) and/or the pathological findings of liver biopsy. Infections with hepatitis A virus (HAV), hepatitis C virus (HCV), hepatitis E virus (HEV) and human immunodefi- ciency virus (HIV) were excluded in all the patients. Coexistence of autoimmune, alcoholic, drug-induced or metabolic liver disease was also excluded in all the patients. HBV infection resolvers and healthy individuals were also recruited as controls. The HBV infection resolvers were recruited from individuals who performed their routine physical examination. Healthy control indi- viduals were recruited from voluntary blood donors. HBV infection resolvers were those who had normal liver biochemical function, seropositive results of anti- HBs and anti-HBc, and no other diseases. The healthy controls were those who had normal liver biochemical function, no histoty of hepatitis B, and no other diseases. Totally, 419 patients with chronic HBV infection, 77 HBV infection resolvers and 175 healthy controls were recruited as study subjects. All the subjects were of ChineseHan ethnicity.
two (192) ChineseHan subjects were randomly selected from individuals who received routine health examina- tions at the General Hospital of Jilin Chemical Group Corporation between September 2009 and June 2010. Three hundred and thirty- seven (337) subjects were re- cruited from a survey conducted in July 2012 on the prevalence and risk factors of chronic diseases among adults in Jilin Province. All study participants accepted general health examination included blood pressure, BMI, and plasma levels of lipids. A total of 529 (252 males and 277 females) subjects with an average age of 59 ± 10 years were included in this study. All subjects were unrelated ChineseHan.
identified in European GWA studies (or meta-analyses) to non-European populations is an interesting issue, because it can facilitate the fine mapping of common causal variants by providing clues as to whether SNPs identified in European GWA studies are simply tag-SNP or “synthetic association” markers, or if they are more likely to be true functional vari- ants. The aforementioned two GWASs were both conducted in people of European descent; now, we have performed the first replication study in a ChineseHanpopulation. In the original study, combined analysis demonstrated a strong
Val34Leu polymorphism affects the function of FXIII by increasing the rate of FXIII activation with thrombin, which results in an increased and faster rate of fibrin stabilization [4,30]. This effect appears dependent on the genetic dose. Thus, the Leu/Leu genotype is associated with elevated activity of FXIII, whereas heterozygous carriers exhibit intermediate activity [14,18]. Although Frequency of the Leu34 allele in a ChineseHanpopulation was lower than Caucasian populations (2.5 vs 20.4%-28.3%) FXIII-A Leu34 allele may contribute to a protective effect against the development of MI and this might indicate the Leu34 allele protective effect has no relation with its frequency .
Sato et al. studied NOD2 polymorphisms associated with pulmonary sarcoidosis  and found that Arg587Arg G allele was associated with significantly bet- ter lung function parameters than the wild-type allele. In Crohn’s disease, the frequency of Arg587Arg G allele was found to be much higher in the control group compared to the disease group . Zhang et al. performed gen- ome-wide association study of leprosy and identified four SNPs in NOD2 (rs9302752, rs7194886, rs8057341, and rs3135499) as leprosy risk factors . In the present study, we found that the Arg587Arg polymorphism (CGG ® TGG) have a relatively high risk for TB in the ChineseHanpopulation (OR = 2.16, 95% CI = 1.31-3.58, P = 0.0023). In the African American population, three common non-synonymous SNPs in the NOD2 gene such as, Arg702Trp (CGG ® TGG), Pro268Ser (CCC ® TCC) and Ala725Gly (GCT ® GGT) have been demon- strated to be associated with TB disease . However, in the South African  and Gambian populations ,
Albeit the correlated survival data in the present study are still accumulating, our findings in this study have provided new evidence for the association between com- mon SNPs (or haplotypes) and the risk of glioma in the ChineseHanpopulation, suggesting an important deter- minant of glioma development by RTEL1 gene. RTEL1 gene locates in 20q13.3 with the length of 40.889 kb, in- cluding 40 exons. Known functions of RTEL1 include nucleic acid binding, ATP-dependent DNA helicase ac- tivity, DNA repair, apoptosis and anti-apoptosis, and so on. Previous study proposed that RTEL1 maintains gen- omic stability by suppressing homologous recombination
For genes with multiple susceptibilities, an analysis based on haplotypes has advantages over an analysis based on individual SNPs, particularly when the linkage disequilibria between the SNPs is weak . Our study is the first haplotype-based case–control study to inves- tigate the association between the human C5aR1 gene and CAD in the ChineseHanpopulation. In our study, we succeeded in identifying two haplotypes (A-C-T and A-T-C) of SNP1-SNP2-SNP3 in ChineseHanpopulation. Based on the haplotype and logistic regression analyses, we believe that the haplotype (A-C-T) is a protective fac- tor for CAD (OR = 0.714, P = 0.002), and A-T-C is an risk factor for CAD (OR = 1.213, P = 0.035) in ChineseHanpopulation.
P < 0.00001 A group of Czech authors found that the rs1799971 polymorphism of the OPRM1 gene was asso- ciated with increased risk of SZ in the male population . However, our results show that the probability of having SZ for those with the G variant of rs1799971 and rs2075572 was decreased, compared to people carrying the A-allele and C-allele, suggesting that the “G” allele of rs1799971 and rs207557 might have a protective effect against SZ. A group of Japanese authors tried to docu- ment the association between the rs1799971 polymor- phism of the OPRM1 gene and tardive dyskinesia in SZ patients. They documented that the G allele was signifi- cantly less represented in patients with tardive dyskinesia, which presented its “protective” role . A following Chinese study observed a similar trend of the G allele be- ing less frequent in subjects with tardive dyskinesia in SZ patients .