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1.
Ahmed W Malik M Saeed I Khan AA Sadeque A Kaleem U Ahmed N Ajmal M Azam M Qamar R 《Molecular biology reports》2011,38(4):2541-2548
A case–control association study on 229 Myocardial Infarction (MI) patients and 217 healthy controls was carried out to determine
the role of tissue-plasminogen activator (t-PA) (Alu-repeat insertion (I)/deletion (D)) and plasminogen activator inhibitor
(PAI-1) (4G/5G insertion/deletion) polymorphisms with MI in the Pakistani population. In MI patients the genotype distribution
of the PAI-1 gene was not found to be different when compared with the unaffected controls (P > 0.05, χ2 = 1.03). The risk allele 4G was also not associated with MI (P > 0.05, χ2 = 0.46, odds ratio (OR) = 1.1 (95% confidence interval (CI) = 0.84–1.43), P > 0.05). Similarly, the genotype frequencies of t-PA I/I, I/D and D/D were not different from the unaffected controls (P > 0.05, χ2 = 1.60), and the risk allele “I” was not found to be associated with MI (P > 0.05, χ2 = 1.35, OR = 0.86 (95% CI = 0.66–1.11), P > 0.05). However, when the data were distributed along the lines of gender a significant association of the 4G/4G PAI-1 genotype
was observed with only the female MI patients (P < 0.05, z-test = 2.21). When the combined genotypes of both the polymorphisms were analyzed, a significant association of
MI was observed with the homozygous DD/4G4G genotype (P < 0.01, z-test = 2.61), which was specifically because of the female samples (P = 0.01, z-test = 2.53). In addition smoking (P < 0.001, χ2 = 13.52, OR = 3.45 (95% CI = 1.77–6.94)), diabetes (P < 0.001, χ2 = 22.45, OR = 8.89 (95% CI = 2.96–29.95)), hypertension (OR = 7.76 (95% CI = 2.88–22.68), P < 0.001) family history (P < 0.001, χ2 = 13.72, OR = 3.7 (95% CI = 1.71–8.18)) and lower HDL levels (P < 0.05) were found to be significantly associated with the disease. In conclusion the PAI-1 gene polymorphism was found to
have a gender specific role in the female MI patients. 相似文献
2.
Xianyong Lan Xinsheng Lai Zhuanjian Li Jing Wang Chuzhao Lei Hong Chen 《Molecular biology reports》2010,37(1):441-449
HESX1 plays a key role in the development of the forebrain and pituitary gland and produces potential effects on performance
traits. The objective of this study was to detect and assess the associations of the possible polymorphisms of six loci within
HESX1 gene with performance traits in Chinese 1,119 goats. Only one novel SNP (NM_001494116:g.307049A > G) locating on IVS1 + 348A > G
was identified and detected by HaeIII forced-RFLP-PCR. The frequencies of allele “G” varied from 0.025 to 0.245 in analyzed populations with the Hardy–Weinberg
equilibrium (P > 0.05). Genotypic and allelic frequencies were found to be significantly different in four breeds (χ2 = 147.674, df = 6, P < 0.001; χ2 = 157.250, df = 3, P < 0.001, respectively), implying that the distribution of genotypic and allelic frequencies of goat HESX1 gene was significantly associated with different goat utilities (cashmere, meat and dairy). Association analysis results
revealed no significant effects of caprine HESX1 gene on body sizes in XNSN population (P > 0.05) and cashmere traits in IMWC population (P > 0.05). Significant statistical of HESX1 gene with body weight was found (*P < 0.05). The genotype AA showed significantly higher body weight than those of AG in 2-year-old age (*P < 0.05), while the AA genotype was senior to AG genotype in 4-year-old body weight trait (*P < 0.05). These suggestions indicated that the HESX1 gene has significant effect on goat body weight depending on ages, which is accordance with the function repressor of the
HESX1. 相似文献
3.
Jing Zhang Ga Liao Chang Liu Lei Sun Yanyou Liu Yuhui Wang Zhou Jiang Zhengrong Wang 《Molecular biology reports》2011,38(1):349-354
Many reports have shown that the biologic rhythm could be altered due to mutations of circadian gene hClock or hPeriod, and
the mutations of circadian genes have some relationship with psychosis according to recent studies. A preliminary study has
been conducted to examine wether the T3111C single nucleotide polymorphism of the hClock gene or the length polymorphism of
the hPer3 gene is associated with the development of schizophrenia. The samples from schizophrenics (n = 148, male: 57.4%, female: 42.6%) and normal controls (n = 199, male: 59.3%, female: 40.7%) were examined. Allele frequencies of T3111C SNP of hClock were significantly different
between schizophrenics and controls (χ2 = 19.738, P < 0.05). Schizophrenics had a significantly higher frequency of the C allele compared with controls (OR = 2.613, 95% CI = 1.693–4.034).
On the other hand, there is no significant difference of allele frequencies of 18 exon of hper3 between schizophrenics and controls (χ2 = 0.192, P > 0.05). Our results suggest that the T3111C (RS1801260) polymorphism of hClock gene is associated with schizophrenia, but
it seems that the length polymorphism of 18 exon of hPer3 may not be associated with schizophrenia. It is important to address
of the relationship between circadian gene polymorphisms and dopamine functions in further study. 相似文献
4.
Kilic A Guclu AU Senses Z Bedir O Aydogan H Basustaoglu AC 《Antonie van Leeuwenhoek》2008,94(4):607-614
Methicillin-resistant Staphylococcus aureus (MRSA) cause serious community-acquired and nosocomial diseases all over the world. We determined the SCCmec types and occurrence of the PVL gene by using TaqMan real-time PCR method, and correlated these with phenotypic antibiotic
susceptibility patterns for MRSA strains collected from Gulhane Military Medical Academy Hospital (GMMAH) during 4 years study
period. To our knowledge, this is the first report from Turkey of molecular SCCmec typing analysis of MRSA stains. A total of 385 clinical MRSA isolates collected in the clinical and Microbiology Laboratory
at GMMAH between 2003 and 2006 were included in the study. Overall, SCCmec types-I, II, III, IV, V, nontypeable and PVL occurrence
were detected in 11 (2.8%), 3 (0.8%), 316 (82.1%), 20 (5.1%), 20 (5.1%), 15 (3.9%) and 5 (1.3%) isolates, respectively. A
total of 330 (85.5%) were SCCmec-I/II/III and 40 (10.3%) were SCCmec IV/V. SCCmec-I/II/III isolates were recovered more from
patients with serious infections in surgical departments especially those with intensive care units than the SCCmec-IV/V isolates (χ2 = 13.560, P < 0.001). SCCmec-I/II/III MRSA strains were predominantly recovered from blood stream (53.0%, P = 0.014), while SCCmec-IV/V strains were predominately isolated from skin and soft tissue and abscess (55.0%, P < 0.001). The PVL gene was detected in 10.0% of SCCmec-IV/V isolates in contrast to 0.3% in SCCmec-I/II/III (χ2 = 25.164, P < 0.001). SCCmec-I/II/III MRSA strains were more resistant to clindamycin (χ2 = 5.078, P = 0.024), amoxicillin-clavulanate (χ2 = 84.912, P < 0.001), erythromycin (χ2 = 4.651, P = 0.031), gentamicin (χ2 = 24.869, P < 0.001), and rifampin (χ2 = 18.878, P < 0.001) than SCCmec-IV/V MRSA strains. This data indicates that SCCmec-III MRSA strains that do not carry the PVL gene are the predominant MRSA
strains in our hospital setting in Ankara, capital of Turkey and that SCCmec-I/II/III MRSA strains may cause serious infections
in surgical departments especially those with intensive care units. 相似文献
5.
Zhuanjian Li Zhongqi Chen Xianyong Lan Liang Ma Yujiao Qu Yanli Liu Mijie Li Ping Wang Fei Li Hong Chen 《Molecular biology reports》2010,37(1):563-569
Weaver gene plays an essential physiological role in the function of many organs, including brain, heart, kidney and endocrine cells,
and also in the regulation of insulin secretion by glucose and/or neurotransmitters. Thus, weaver gene is an important potential candidate gene effecting on performance traits. The objective of this study was to detect
the genetic variation of five loci within weaver gene by PCR-SSCP, DNA sequencing and forced PCR-RFLP methods in 1,019 Chinese indigenous goats. Two novel coding SNPs (XM_598993:m.864G>A;
XM_598993:m.1224T>A) locating on P3 and P4 loci were identified and detected by MluI and AsuII forced PCR-RFLP, respectively. In the MluI analysis, the frequencies of goat MluI-A allele in the analyzed populations were 0.226, 0.248, 0.096 and 0.088 for XNSN, GZ, SBWC and XJWC, respectively. Genotypic
frequencies were found to be significantly different in four breeds (χ2 = 75.842, df = 6, P < 0.001); In the AsuII analysis, the frequencies of goat AsuII-A allele in the analyzed populations were 0.584, 0.441, 0.073 and 0.063 for XNSN, GZ, SBWC and XJWC, respectively. Genotypic
frequencies were found to be significantly different among four breeds (χ2 = 399.464, df = 6, P < 0.001). The frequencies of allele MluI-A and AsuII-A in XNSN and GZ populations were significantly higher than those of SBWC and XJWC goats. Association analysis with adjusted
milk yield in the XNSN breed indicated that the animals with AsuII-AA genotype owned significantly higher adjusted milk yield than the ones with AsuII-TT genotype in the second lactation (P < 0.05). The observation suggested that the allele “AsuII-A” had the positive effects on adjusted milk yield in the second lactation. 相似文献
6.
Li-Qiong Cai Zai-Xing Wang Wen-Sheng Lu Jian-Wen Han Liang-Dan Sun Wen-Hui Du Shu-Mei Zhang Xian-Bo Zuo Xue-Jun Zhang Sen Yang 《Molecular biology reports》2010,37(1):389-394
Systemic lupus erythematosus (SLE) is a complex systemic disease influenced by genetic and environmental factors. The exact
pathogenesis of SLE is still unknown. Recently, several genome-wide association studies (GWA) in European population have
found many novel susceptibility genes for SLE including TNFAIP3. In order to examine whether TNFAIP3 is associated with SLE
in Chinese Han population, we genotyped one of its non-synonymous mutation SNP rs2230926, showing significant association
evidence with SLE in European population, with 1,420 cases and 4,461 controls of Chinese Han by using Sequenom MassArray system.
Highly significant association between SNP rs2230926 and SLE of Chinese Han was detected [OR = 1.65, 95% confidence interval
(CI): 1.392–1.986, P = 2.03 × 10−8]. Interestingly, rs2230926 of TNFAIP3 was also associated with arthritis, ANA and some other subphenotypes of the disease.
Our findings suggest that SNP rs2230926 in the TNFAIP3 might be a common genetic factor for SLE within different populations
in terms of Chinese Han and European population. 相似文献
7.
The results of studies on association between the C677T polymorphism of the 5,10-methylene-tetrahydrofolate reductase (MTHFR)
gene and osteonecrosis of the femoral head (ONFH) are controversial. To derive a more precise estimation of the relationship
between the MTHFR C677T polymorphism and ONFH, a meta-analysis was performed. Eight studies on MTHFR C677T association with
ONFH were searched up to April 2011, and the genotype frequencies in control group were consistent with Hardy–Weinberg equilibrium.
The effect summary odds ratio (OR) and 95% confidence intervals were obtained. Publication bias was tested by funnel plot,
Egger’s regression test, and heterogeneity was assessed. Eight studies containing 778 cases and 1,162 controls were included.
Heterogeneity was observed (χ
2 = 18.58, P = 0.01). Under the random effects model, the common OR was 1.38 (95% CI: 0.92–2.08; P = 0.12). In the subgroup meta-analysis, there was an association between MTHFR C677T polymorphism and ONFH in non-Asian population
for CT + TT vs. CC (OR = 1.72; 95% CI: 1.21–2.43; P = 0.002; I
2
= 37.9%, P = 0.17), but not for Asian population (OR = 0.88; 95% CI: 0.66–1.66; P = 0.35; I
2
= 45.4%, P = 0.16). There was heterogeneity between studies and no clear evidence of an association on a worldwide population. When
stratifying for the race, this meta-analysis did not provide an evidence of confirming association between MTHFR C677T polymorphism
and ONFH. The large sample and well-designed study based on different ethnic groups should be considered in future associated
studies to clarify the association of MTHFR C677T polymorphism with ONFH susceptibility. 相似文献
8.
Fang Liu Zhiyi He Shumin Deng Hui Zhang Nan Li Jialiang Xu 《Molecular biology reports》2011,38(3):1983-1988
Adiponectin is inversely associated with the risk of ischemic stroke through its anti-inflammatory and anti-atherogenic effects.
Genetic variations in the adiponectin gene (ADIPOQ) have been shown to be associated with the risk of ischemic stroke in Caucasians
and Japanese populations. However, it was unknown whether variations in the ADIPOQ gene were associated with the risk of ischemic
stroke in Chinese population. A case-control study was performed among 302 patients with ischemic stroke and 338 unrelated
controls in a Chinese Han population. The single-nucleotide polymorphisms (SNPs) rs266729 (−11377C/G), rs2241766 (+45T/G),
rs1501299 (+276G/T) in the ADIPOQ gene were genotyped by the polymerase chain reaction–restriction fragment length polymorphism
(PCR-RFLP) method. The frequencies of GG genotype and G allele of rs266729 in the patients with ischemic stroke were significantly
higher than those in the controls (P = 0.034, P = 0.010, respectively). In univariate logistic analysis, compared with CC genotype, GG genotype of rs266729 increased the
risk of ischemic stroke (odds ratio (OR) = 2.062, 95% confidence interval (CI) = 1.145–3.715, P = 0.016). After adjustment for potential risk factors by the multivariate logistic analysis, rs266729 remained positive correlation
with ischemic stroke (OR = 2.165; 95% CI = 1.116–4.197, P = 0.022). However, no significant association was observed among rs2241766, rs1501299 and ischemic stroke. In addition, no
significant difference was found in haplotype frequencies between the patients with ischemic stroke and control subjects.
The present study demonstrated that the promoter polymorphism rs266729 of the ADIPOQ gene was associated with an increased
risk of ischemic stroke in the Chinese Han population. 相似文献
9.
In the study, we enrolled 150 breast cancer cases to investigate the expression status of activated leukocyte cell adhesion
molecule (ALCAM), and the relationships between ALCAM expression and clinical-pathological characteristics and prognosis of
breast cancer. It was observed that ALCAM was expressed at higher levels in breast cancer tissue compared to levels observed
for tumor-adjacent tissue. Compared to cancers with low membranous ALCAM expression, cancers with high membranous ALCAM expression
were prone to lymph node metastasis (χ2 = 15.910, P = 0.010) and metastasis in general (χ2 = 5.211, P = 0.029). High cytoplasmic ALCAM expression was noticeably correlated with local recurrence (χ2 = 7.379, P = 0.012), especially for short-term recurrence (interval <2 years) (χ2 = 5.562, P = 0.037), while not associated to long-term local recurrence (interval >2 years). The content of ALCAM protein is closely
associated with the expression of estrogen receptor (ER) (P = 0.024). The disease-free survival of patients with high cytoplasmic ALCAM expression was significantly shorter compared
to the cases with low cytoplasmic ALCAM expression (P = 0.036). In conclusion, ALCAM expressed at high levels in breast cancer. High membranous expression of ALCAM probably resulted in weakened adherent
ability and metastasis. In addition, high cytoplasmic ALCAM expression strengthened invasive ability of malignant cells and
then promoted tumor development. 相似文献
10.
Wei JC Yen JH Juo SH Chen WC Wang YS Chiu YC Hsieh TJ Guo YC Huang CH Wong RH Wang HP Tsai KL Wu YC Chang HW Hsi E Chang WP Chang WC 《PloS one》2011,6(6):e20426
Ankylosing spondylitis (AS) is a chronic inflammation of the sacroiliac joints, spine and peripheral joints. The aetiology of ankylosing spondylitis is still unclear. Previous studies have indicated that genetics factors such as human leukocyte antigen HLA-B27 associates to AS susceptibility. We carried out a case-control study to determine whether the genetic polymorphisms of ORAI1 gene, a major component of store-operated calcium channels that involved the regulation of immune system, is a susceptibility factor to AS in a Taiwanese population. We enrolled 361 AS patients fulfilled the modified New York criteria and 379 controls from community. Five tagging single nucleotides polymorphisms (tSNPs) at ORAI1 were selected from the data of Han Chinese population in HapMap project. Clinical statuses of AS were assessed by the Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Bath Ankylosing Spondylitis Functional Index (BASFI), and Bath Ankylosing Spondylitis Global Index (BAS-G). Our results indicated that subjects carrying the minor allele homozygote (CC) of the promoter SNP rs12313273 or TT homozygote of the SNP rs7135617 had an increased risk of HLA-B27 positive AS. The minor allele C of 3′UTR SNP rs712853 exerted a protective effect to HLA-B27 positive AS. Furthermore, the rs12313273/rs7135617 pairwise allele analysis found that C-G (OR 1.69, 95% CI 1.27, 2.25; p = 0.0003) and T-T (OR 1.75, 95% CI 1.36, 2.27; p<0.0001) haplotypes had a significantly association with the risk of HLA-B27-positive AS in comparison with the T-G carriers. This is the first study that indicate haplotypes of ORAI1 (rs12313273 and rs7135617) are associated with the risk of HLA-B27 positive AS. 相似文献
11.
Lopez-Larrea C Blanco-Gelaz MA Torre-Alonso JC Bruges Armas J Suarez-Alvarez B Pruneda L Couto AR Gonzalez S Lopez-Vázquez A Martinez-Borra J 《Arthritis research & therapy》2006,8(4):R101-5
Killer cell immunoglobulin-like receptors (KIRs) and human leukocyte antigen (HLA) loci are both highly polymorphic, and some
HLA class I molecules bind and trigger cell-surface receptors specified by KIR genes. We examined whether the combination of KIR3DS1/3DL1 genes in concert with HLA-B27 genotypes is associated with susceptibility to ankylosing spondylitis (AS). Two HLA-B27-positive
Caucasian populations were selected, one from Spain (71 patients and 105 controls) and another from the Azores (Portugal)
(55 patients and 75 controls). All were typed for HLA-B and KIR (3DS1 and 3DL1) genes. Our results show that in addition to B27, the allele 3DS1 is associated with AS compared with B27 controls (p < 0.0001 and p < 0.003 in the Spanish population and Azoreans, respectively). We also observed that the association of KIR3DS1 to AS was
found in combination with HLA-B alleles carrying Bw4-I80 in trans position in the Spanish population (30.9% in AS versus 15.2%
in B27 controls, p = 0.02, odds ratio (OR) = 2.49) and in Azoreans (27.2% in AS versus 8.7% in B27 controls, p = 0.01, OR = 4.4 in Azoreans). On the other hand, 3DL1 was decreased in patients compared with B27 controls (p < 0.0001 in the Spanish population and p < 0.003 in Azoreans). The presence of this allele in combination with Bw4-I80 had a protective effect against the development
of AS in the Spanish population (19.7% in AS, 35.2% in B27 controls; p = 0.03, OR = 0.45). The presence of KIR3DS1 or KIR3DL1 in combination with HLA-B*27s/HLA-B Bw4-I80 genotypes may modulate the development of AS. The susceptibility to AS could
be determined by the overall balance of activating and inhibitory composite KIR-HLA genotypes. 相似文献
12.
Vaisi-Raygani A Rahimi Z Tavilani H Vaisi-Raygani H Kiani A Aminian M Shakiba E Shakiba Y Pourmotabbed T 《Molecular biology reports》2012,39(3):2723-2731
We have previously shown that angiotensin-converting enzyme (ACE) gene D allele is an independent risk factor for early onset
coronary artery disease (CAD). Little is known about the concomitant presence of the ACE gene D allele and paraoxonase (PON1)
codon 192 arginine (Arg) on the severity of CAD. Regarding the high rate of CAD among Iranians the aim of present study was
to examine the hypothesis of synergistic effects between ACE-D and PON1-Arg alleles on predisposition and the severity of
CAD in our population. The PON1 192 and ACE insertion/deletion (I/D) genotypes were detected by PCR-RFLP and PCR, respectively
in 414 individuals undergoing their first coronary angiography. Patients were placed into one of two groups: CAD and control
without CAD or diabetes. We mentioned the synergistic effects of both genes and not ACE gene alone is a risk factor for CAD.
We found that PON1 Arg 192 and ACE D allele act synergistically to increase the risk of CAD (OR 1.3, P = 0.044). Our results showed a significant correlation between the possession of both PON1 192 Arg and the ACE D allele and
the extent of CAD in CAD patients and CAD subjects without diabetes, represented by the increased frequency of three-vessel
disease with OR 2.7, P = 0.046; χ2 = 4, P = 0.046 and OR 2.4, P = 0.051; χ2 = 3.8, P = 0.051, respectively. We found that PON1 Arg 192 and ACE D alleles act synergistically to increase the risk of CAD in CAD
patients and CAD subjects without diabetes from west of Iran, who have high frequency of three-vessel disease. Our data suggest
that PON1 192 Arg and the ACE D allele in combination with each other can be important independent risk factor for severity
of CAD in patients carrying both PON1 192 Arg and the ACE D allele in a west population of Iran. 相似文献
13.
Yanhui Liu Guohui Zhang Yulong Guan Xiaoliang Zhao Quan Wang Hua Li Jinhong Qi 《Journal of cellular and molecular medicine》2020,24(18):10615-10620
The case‐control study was designed to investigate the genetic effects of interferon‐gamma (IFN‐γ) rs2069727 and rs1861494 polymorphisms on ankylosing spondylitis (AS) susceptibility in a Chinese Han population. Blood samples were collected from 108 AS patients and 110 healthy controls. IFN‐γ polymorphisms were genotyped by polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP). Hardy‐Weinberg equilibrium (HWE) test was performed in control group. Odds ratios (OR) with 95% confidence intervals (95% CI) were calculated using chi‐square test to evaluate the association between AS susceptibility and IFN‐γ polymorphisms, and the results were adjusted by logistic regressive analysis. The frequency of rs2069727 CC genotype was much higher in cases than that in controls, suggested its significant association with increased AS risk (adjusted OR = 5.899, 95% CI = 1.563‐22.261; P = .009). In addition, C allele also showed close association with increased risk of AS (adjusted OR = 2.052, 95% CI = 1.286‐1.704, P = 0 .003). While the genotype and allele frequencies of IFN‐γ rs1861494 polymorphism were not significantly different between patients and controls (P > 0.05 for all), IFN‐γ rs2069727 polymorphism is significantly associated with increased AS risk in a Chinese Han Population. 相似文献
14.
Hanxiang Gao Zheng Zhang Jin Zhang Nan Zhao Qiang Li Ming Bai 《Molecular biology reports》2010,37(1):47-50
About the role of lymphotoxin α (LTA) gene in coronary heart disease, controversy reports exists. So the purpose of the present
study was to investigate the possible involvement of LTA in the pathogenesis of atherosclerosis and MI in Chinese. In a cross-sectional
design, we studied 57 coronary heart disease patients with family history of coronary heart disease and in another control
group of 62 healthy subjects (mean age 56 years; range 32–78 years). Body mass index, the levels of blood pressure, the plasma
levels of lipoproteins, cholesterol, and triglycerides were measured, smoking data were self-reported, and LTA genotypes were
determined. LTA Ala252Gly gene polymorphism had two alleles (LTA1 and LTA2) and three kinds of genotype: homozygote LTA G/G,
LTA A/A, and heterozygote LTA A/G. No population significant differences were detected in LTA genotypes and allele frequencies
between coronary heart disease patients or healthy controls (χ
2 = 1.479, P = 0.477 > 0.05). LTA Ala252Gly gene polymorphism was not associated with the genetic predisposition of coronary heart disease. 相似文献
15.
Li Zhang Dazhi Fan Li Liu Ting Yang Ning Ding Yanting Hu Guoqi Cai Li Wang Lihong Xin Qing Xia Xiaona Li Shengqian Xu Jianhua Xu Xiao Yang Yanfeng Zou Faming Pan 《PloS one》2015,10(6)
Objective
This study aims to determine whether the genetic polymorphisms of IL-12B gene is a susceptibility factor to Ankylosing spondylitis (AS) in mainland Han Chinese population.Method
Eight single-nucleotide polymorphisms (SNPs) (rs10045431, rs11167764, rs3212227, rs6556412, rs6556416, rs6871626, rs6887695 and rs7709212) in the IL-12B gene were genotyped by iMLDR Assay technology in 400 patients [96% (384/400) HLA-B27(+)] and 395 geographically and ethnically matched healthy controls in mainland Han Chinese population. The correlation between IL-12B genetic polymorphisms and AS activity index (BASDAI, BASFI) were tested.Results
The significant difference was found in genotype distribution between AS and healthy controls (χ2 = 6.942, P-value = 0.031) of the SNP rs6871626. Furthermore, significant evidence was also detected under the recessive model for minor allele A. The AA genotype carrier had 1.830 fold risk compared with C allele carrier (with CC and AC genotypes) [OR (95% CI) = 1.830 (1.131-2.961), P-value = 0.014]. Nevertheless, the difference was no longer significant after Bonferroni correction. Subset analysis on cases with HLA-B27(+) did find the same results. Three genotypic groups (AA, CC and CA) in rs6871626 site was highly associated with the BASDAI and BASFI (P-value = 0.012 and P-value = 0.023, respectively), after adjustment for effect of age, sex, and disease duration, the P-value was 0.031 and 0.041, respectively. The AA genotype of rs6871626 was also significantly correlated with an increased BASDAI and BASFI compared to the AC and CC genotypes in AS patients.Conclusion
Our findings suggest that rs6871626 may be associated AS susceptibility and with disease activity (BASDAI, BASFI) in mainland Han Chinese population. 相似文献16.
17.
Gernot Steinwender Ewald Lindner Martin Weger Sophie Plainer Wilfried Renner Navid Ardjomand Yosuf El-Shabrawi 《PloS one》2013,8(4)
Objective
Polymorphisms of the vitamin D metabolism gene CYP27B1 showed associations with multiple autoimmune diseases. The aim of this study was to investigate a possible association between the rs703842 A>G polymorphism of the CYP27B1 gene and HLA-B27-associated uveitis.Design
One hundred fifty-nine patients with HLA-B27-associated uveitis, 138 HLA-B27-negative controls and 100 HLA-B27-positive controls were recruited for this retrospective case-control study. Main outcome parameters were genotype distribution and allelic frequencies determined by polymerase chain reaction.Results
Carriers of the rs703842G allele were found significantly more often in patients with HLA-B27-associated uveitis than in HLA-B27-positive controls (p = 0.03). Between patients and HLA-B27-negative controls no significant difference in the genotype distribution of the rs703842 A>G polymorphism was found (p = 0.97).Conclusions
Our data suggest that the rs703842 A>G polymorphism may play a role in HLA-B27-associated uveitis. 相似文献18.
Xiao-Ling Liu Feng-Lin Zhang Zhi-Yong Zhou Hua-Lu Zhao Guo-Min Shen Wu-Yun Baohan Zi-Yuan Duan Wei Li Jun-Wu Zhang 《Molecular biology reports》2010,37(1):179-184
The Tajik people in China have resided at high altitude for thousands of years. We analyzed the Pro12Ala (C > G) polymorphism
in exon B and the 161C > T polymorphism in exon 6 of peroxisome proliferator activated receptor gamma gene (PPARG) in Chinese Tajik population living at high altitude and Chinese Han population living at low attitude. Significant higher
frequencies of the CG and GG genotypes and G allele of the Pro12Ala (C > G) polymorphism were observed in the Tajik population
than that in the Han population (P < 0.0001), which suggested the G allele was associated with high-altitude adaptation in the dominate model. The significant
differences were remained in both of the male and female groups after stratified by gender, and the differences were more
pronounced in men (G versus C, OR = 7.700) than in women (OR = 5.056). No significant difference was observed for the 161C > T
polymorphism in the two populations. The frequencies of haplotypes GT (P < 0.0001) and GC (P < 0.05) were significantly higher, while the frequency of CT (P < 0.0001) was significantly lower in the Tajik population than that in the Han population. Our results suggest that PPARG is a candidate gene for high-altitude adaptation in the Chinese Tajik population. 相似文献
19.
Dengbin Qi Xiaodong Tian Yan Wang Guoquan Zheng Xuesong Zhang 《Journal of cellular biochemistry》2020,121(8-9):3935-3940
The purpose of the study was to explore the genetic effects of bone morphogenetic protein (BMP2) polymorphisms on the susceptibility to ankylosing spondylitis (AS) in Chinese Han population. The case-control study included 120 AS cases and 110 healthy controls. Hardy-Weinberg equilibrium test was performed in control group. BMP2 rs235768 and rs3178250 polymorphisms were analyzed by polymerase chain reaction and direct sequencing. Additionally, the χ2 test was used to estimate association strength between BMP2 genetic polymorphisms and AS susceptibility, and the results were assessed via odds ratio (OR) with the corresponding 95% confidence interval (95%CI). Results adjustment was performed using logistic regression analysis. AA, AT, TT genotype and A, T allele frequencies of BMP2 rs235768 polymorphism presented no significant differences between case and control groups (P > .05 for all). TC genotype of rs3178250 polymorphism showed significantly higher in case group than that in control group (P = .048). After adjusting, TC genotype was a risk factor for AS (OR = 2.095; 95%CI = 1.086-4.038; P = .027). BMP2 rs3178250 polymorphism may increase individual susceptibility to AS in Chinese Han population. 相似文献
20.
SMAD7 has been demonstrated to antagonize TGF-β-mediated fibrosis, carcinogenesis, and inflammation. Two previous genome-wide
association studies identified three single nucleotide polymorphisms (SNPs) (rs4939827, rs12953717 and rs4464148) in SMAD7 to be associated with colorectal cancer in a Western population. We conducted the first case–control study in a Han Chinese
population to explore the associations between these three SNPs and colorectal, gastric, and lung cancers. Of the three SNPs,
only rs12953717 was strongly associated with the three types of cancer, fitting the overdominant model. Compared with the
CC/TT (CC combined with TT) genotype, the adjusted odds ratios for the CT genotype were 2.002 (95% CI, 1.250–3.207, P = 0.004), 1.678 (95% CI, 1.048–2.689, P = 0.031), 3.825 (95% CI, 2.310–6.335, P < 1 × 10−4), and 2.294 (95% CI, 1.537–3.343, P < 1 × 10−4), respectively, for colorectal, gastric, lung, and combined cancers. These outcomes suggest that rs12953717 is a common risk
marker of these three types of cancer in the Han Chinese. 相似文献