共查询到20条相似文献,搜索用时 16 毫秒
1.
To investigate the association of single nucleotide polymorphism in the matrix metalloproteinase-3 (MMP3) gene promoter with the susceptibility to the middle cerebral artery stenosis. A case–control study was performed by determining
the genotype of MMP3 gene promoter region using polymerase chain reaction-restriction fragment length polymorphism in 119 patients with middle
cerebral artery stenosis documented by transcranial Doppler compared to 92 control patients. The frequencies of 5A and 6A
alleles in MMP3 promoter region were 16.0 and 84.0% respectively in case group compared to 15.8 and 84.2% in control group with no significant
difference between the two groups (P > 0.05). No significant difference was also observed in the distribution of genotypes 5A/5A,5A/6A, and 6A/6A between middle
cerebral artery stenosis and control groups. Compared to 5A/5A + 5A/6A genotypes,the 6A/6A genotype did not significantly
modify the risk of developing the middle cerebral artery stenosis. The MMP3–1171 dupA promoter polymorphisms are not valuable markers of susceptibility of the middle cerebral artery stenosis in this
sample of population studied. 相似文献
2.
Zhu Ke-Xiang Li Yu-Min Li Xun Zhou Wen-Ce Shan Yong Liu Tao 《Molecular biology reports》2011,38(1):649-655
To investigate the possible association of polymorphisms, cyclooxygenase-2 (COX-2) promoter region −899G>C, COX-2 codon 587G>A,
with risk of gastric cancer in the high incidence Hexi area of Gansu province in China. Blood samples from 140 patients with
gastric carcinoma and 125 normal persons were collected in Hexi area of Gansu province in China. Polymorphisms of COX-2 −899G>A
and COX-2 587G>A were genotyped by PCR-TaqMan. For detection Helicobacter pylori infection, Warhin–Starry staining was used. Three kinds of polymorphisms of COX-2 −899G>C were GG, GC and CC. The frequencies
in gastric cancer patients were 72.9, 21.4 and 5.7%, and the frequencies in controls were 84.0, 12.8 and 3.2%, respectively.
COX-2 −899C carrier (GC + CC) increased risk of gastric carcinoma with an odds ratio 1.950 (95% CI: 1.067–3.586, P = 0.029). The genotype of COX-2 587G>A polymorphism were GG, GA and AA. The frequencies in patients group were 86.4, 11.4
and 2.2%, and the frequencies in controls were 89.6, 9.6 and 0.8%, respectively. There was no significant difference between
cases and controls in each genotype. Helicobacter pylori infection rate was 68.6% in patients group and 50.4% in healthy controls. Helicobacter pylori infection rate in gastric cancer patients was remarkably higher than that in normal people (OR: 2.147, 95% CI: 1.302–3.541,
P = 0.003). Stratification analysis was showed that COX-2 −899C carrier genotype with Helicobacter pylori infection was significantly higher in cases than that in healthy controls (OR: 4.000, 95% CI: 1.638–9.770). The polymorphism
of COX-2 −899G>C could be a risk factor for gastric cancer in high incidence Hexi area of Gansu Province in China. COX-2 −899C
carrier genotype and Helicobacter pylori positive infection may have a synergistic effect on gastric cancer in high incidence Hexi area of Gansu Province in China.
However, the polymorphisms of COX-2 587G>A is no association with gastric cancer in the high incidence Hexi area of Gansu
Province in China. 相似文献
3.
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
4.
Exonuclease 1 (Exo 1) is an important nuclease involved in mismatch repair system that contributes to maintain genomic stability,
to modulate DNA recombination, and to mediate cell cycle arrest. A guanine (G)/adenine (A) common single nucleotide polymorphism
at first position of codon 589 in Exo 1 gene determines a glutamic acid (Glu, E) to lysine (Lys, K) (K589E) aminoacidic substitution
which may alter cancer risk by influencing the activity of Exo 1 protein. Exo 1 K589E polymorphism has been studied in various
cancers, but its association with hepatocellular carcinoma (HCC) has yet to be investigated. To determine the association
of the Exo 1 K589E polymorphism with the risk of HCC development in a Turkish population, a hospital-based case–control study
was designed consisting of 224 subjects with HCC and 224 cancer-free control subjects matched for age, gender, smoking and
alcohol status. The genotype frequency of the Exo 1 K589E polymorphism was determined by using a polymerase chain reaction–restriction
fragment length polymorphism assay. Our data shows that the Lys/Lys genotype of the Exo 1 K589E polymorphism is associated
with increased risk of HCC development in this Turkish population [odds ratio (OR) = 2.15, 95% confidence interval (CI): 1.13–4.09,
P = 0.02]. Furthermore, according to stratified analysis, a significant association was observed between the homozygote Lys/Lys
genotype and HCC risk in the subgroups of male gender (OR = 2.67, 95% CI: 1.27–5.61, P = 0.009) and patients with non-viral-related HCC (OR = 3.14, 95% CI: 1.09–8.99, P = 0.03). Because our results suggest for the first time that the Lys/Lys homozygote genotype of Exo 1 K589E polymorphism
may be a genetic susceptibility factor for HCC in the Turkish population, further independent studies are required to validate
our findings in a larger series, as well as in patients of different ethnic origins. 相似文献
5.
6.
The aim of this study was to explore whether the cytotoxic T lymphocyte associated antigen-4 (CTLA-4) or tumor necrosis factor-α
(TNF-α) polymorphisms contribute to anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) susceptibility.
The authors conducted a meta-analysis on associations between polymorphisms of the 3′ untranslated region (UTR) microsatellite
at exon 3, exon 4 CT60 (A/G), exon 1 +49 (A/G), and promoter -318 (C/T) of CTLA-4, and TNF-α promoter-308 (A/G) and AAV susceptibility
as determined using; (1) allelic contrast and (2) homozygote contrast, (3) recessive, and (4) dominant models. A total of
11 comparisons were considered in this meta-analysis. These studies encompassed 7 CTLA-4 studies and 4 TNF-α studies in 10
European populations and 1 Asian population. The (AT)n repeat polymorphisms of CTLA-4 were found to be significantly associated with AAV in European populations (OR of 86 vs. xx
allele = 0.402, 95% CI = 0.184–0.875, P = 0.022). The one study conducted on this polymorphism in Asians showed no significant association with AAV. Meta-analysis
of the 86/86 (recessive effect), 86/86 and 86/xx (dominant effect), and 86/86 vs. xx/xx (homozygote contrast) of the (AT)n repeat revealed a significant association with AAV in Europeans. Both the CTLA-4 CT60 and +49 polymorphisms were found to be significantly associated with AAV in European populations, and allele and genotype-based
analyses showed a significant association between the CTLA-4 CT60 and +49 polymorphisms with AAV in Europeans (OR of the A allele of CT60 = 0.769, 95% CI = 0.619–0.017, P = 0.035; OR of the T allele of +49 = 1.382, 95% CI = 1.147–1.664, P = 0.001, respectively). Meta-analysis of the CTLA-4 -318 polymorphism failed to identify any association with AAV. Furthermore, meta-analysis of the AA genotype, the AA and
AG genotypes, and the A allele of TNF-α failed to reveal any association with Wegener’s granulomatosis (WG). This meta-analysis
demonstrates that the CTLA-4 polymorphisms confer susceptibility to AAV in Europeans. In contrast, no association was found
between the TNF-α-308 polymorphism and susceptibility to WG in Europeans. 相似文献
7.
Wang F Ma YL Zhang P Yang JJ Chen HQ Liu ZH Peng JY Zhou YK Qin HL 《Molecular biology reports》2012,39(1):269-275
MicroRNAs (miRNAs) are small non-coding RNA molecules that function as negative regulators of gene expression. Common genetic
variants (single nucleotide polymorphisms, SNPs) in miRNA genes may alter their expression or maturation resulting in varied
functional consequences. Until now, several studies had evaluated the association between the polymorphisms in the hsa-miR-196a2
rs11614913 and cancer risk in diverse populations and in multiple types of cancer, with contradictory outcomes. Therefore,
here we performed a meta-analysis to address the association between this polymorphism and cancer risk. A total of nine studies
involving 6,540 cases and 7,562 controls were retrieved based on PubMed. Our analysis demonstrated that hsa-miR-196a2 rs11614913
CC genotype significantly increased the cancer risk in homozygote comparison model compared to TT genotype (OR = 1.18; 95%
CI, 1.01–1.68). Moreover, significant association of this polymorphism with breast cancer was found based on homozygote comparison
model (OR = 1.30; 95% CI, 1.01–1.26) and dominant model (OR = 1.11; 95% CI, 1.01–1.23). In addition, hsa-miR-196a2 rs11614913
CC genotype was significantly associated with cancer risk in Chinese and Indian (OR = 1.21; 95% CI, 1.05–1.40), but not in
Caucasians (OR = 1.03; 95% CI, 0.89–1.19). Taken together, our results indicate that the polymorphism of hsa-miR-196a2 rs11614913
is associated with cancer susceptibility, especially with breast cancer and in Chinese and Indian populations. 相似文献
8.
Sümbül AT Akkız H Bayram S Bekar A Akgöllü E Sandıkçı M 《Molecular biology reports》2012,39(2):1639-1647
The tumor suppressor p53 gene plays a crucial role in preventing carcinogenesis through its ability to induce cell cycle arrest
and apoptosis following DNA damage and oncogene activation. A guanine (G)/cytosine (C) common single nucleotide polymorphism
(SNP) at second position of codon 72 in exon 4 of p53 gene determines a arginine (Arg) to proline (Pro) (Arg72Pro) aminoacidic
substitution within the proline-rich domain of p53 protein. Arg72 and Pro72 allele are different from a biochemical and biological
point of view and many reports suggest that they can modulate individual cancer susceptibility. To determine the association
of the p53 Arg72Pro polymorphism with the risk of hepatocellular carcinoma (HCC) development in a Turkish population, a hospital-based
case–control study was designed consisting of 119 subjects with HCC and 119 cancer-free control subjects matched for age,
gender, smoking and alcohol status. The genotype frequency of the p53 Arg72Pro polymorphism was determined by using a polymerase
chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Our data shows that the Pro/Pro genotype of the
p53 Arg72Pro polymorphism is associated with increased risk of HCC development in this Turkish population (OR = 3.20, 95%
CI: 1.24–8.22, P = 0.02). Furthermore, according to stratified analysis, a significant association was observed between the homozygote Pro/Pro
genotype and HCC risk in the subgroups of male gender (OR = 3.01, 95% CI: 1.14–7.97, P = 0.03) and patients with hepatitis B virus (HBV)-related HCC (OR = 4.04, 95% CI: 1.46–11.15, P = 0.007). Because our results suggest for the first time that the Pro/Pro homozygote of p53 Arg72Pro polymorphism may be
a genetic susceptibility factor for HCC (especially in the male gender and HBV-infected patients) in the Turkish population,
further independent studies are required to validate our findings in a larger series, as well as in patients of different
ethnic origins. 相似文献
9.
Ku70 plays an important role in the DSBR (DNA double-strand breaks repair) and maintenance of genomic integrity. Genetic variations
within human Ku70 have been demonstrated to be associated with increased risk of several types of cancers. In this hospital-based
case–control study, we aimed to investigate whether a single nucleotide polymorphism (SNP) in the promoter region (rs2267437)
of Ku70 gene is associated with susceptibility to breast cancer in Chinese Han population. A total of 293 patients with breast
cancer and 301 age-matched healthy controls were enrolled in this study. The Ku70 −1310C/G polymorphism was determined by
polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) analysis. A significant difference in genotype
distribution and allele frequency was observed between patients and controls. The CG or GG carries were at higher risk of
breast cancer compared with the CC homozygotes (OR = 1.43, 95% CI = 1.02–2.00, P = 0.038 and OR = 3.53, 95% CI = 1.60–7.80, P = 0.002, respectively). Further stratification analysis revealed that G allele was associated with an increased risk of breast
cancer among premenopausal women (OR = 1.68, 95% CI = 1.21–2.33, P = 0.002), but not in postmenopausal women (OR = 1.33, 5% CI = 0.85–2.10, P = 0.216). Our study suggests that the Ku70 −1310C/G promoter polymorphism may be a susceptibility factor for breast cancer
in Chinese Han population. 相似文献
10.
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
11.
Liu J Chen X Guo Q Ma X Zhang J Huang X Zhang X Zhang S 《Molecular biology reports》2011,38(4):2499-2505
The human Rho guanine nucleotide exchange factor 11 (ARHGEF11), located on chromosome 1q21, is an activator of Rho GTPases
involved in G protein signaling pathway known to regulate insulin secretion and action. The aim of our study was to evaluate
the relationship between the previously reported R1467H G/A variant in ARHGEF11 and risk of type 2 diabetes mellitus (T2DM)
and insulin resistance as well as metabolic traits in a Chinese population. We genotyped R1467H G/A polymorphism in 311 patients
with T2DM and 328 control subjects in a Chinese population, using a polymerase chain reaction-restriction fragment length
polymorphism (PCR-RFLP) protocol and DNA sequencing methods. The genotype and allele distributions of the R1467H G/A polymorphism
were significantly different between the T2DM group and the normal control group (P = 0.024, 0.018, respectively) and we also found that the A allele carriers (GA + AA genotype) had markedly higher risk of
T2DM as compared with the wild-type GG genotype after adjustment for gender, age, and BMI (OR = 1.578, 95% CI 1.126–2.212,
P = 0.008). Moreover, in the T2DM group the A allele carriers had higher FPG, FINS, and HOMA-IR than that of the GG homozygote
(P = 0.015, 0.029, and 0.007, respectively). FPG and HOMA-IR levels were also significantly increased from A allele carriers
to GG homozygote in the control group (P = 0.017, 0.012, respectively). Our investigation suggests that the R1467H polymorphism of ARHGEF11 gene may contribute to
susceptibility to T2DM and insulin resistance in a Chinese population. 相似文献
12.
Estrogen plays a role in the pathogenesis of endometriosis. The CYP17 gene codes for the cytochrome P450c17α enzyme that is
involved in the estrogen biosynthesis. We aimed to investigate if CYP17 polymorphism could be used as marker to predict the
susceptibility of endometriosis. Women were divided into two groups: (1) severe endometriosis (n=119); (2) non-endometriosis
groups (n=128). A 169-bp fragment encompassing the T/C polymorphic site in 5′-untranslated promoter region (5′-UTR) of the
CYP17 was amplified by the polymerase chain reaction, treated with restriction enzyme MspA1I, and electrophoresis. The polymorphism
was divided into restriction-enzyme indigestible (T homozygote), T/C heterozygote, and digestible (C homozygote). Genotypes
and allelic frequencies for this polymorphism in both groups were compared. We observed a higher but non-significant percentage
of T homozygote in the endometriosis women compared with the non-endometriosis women. Proportions of T homozygote/heterozygote/C
homozygote for CYP17 in both groups were: (1) 26.1/46.2/27.7% and (2) 17.2/45.3/37.5% (p-value=0.131). T allele was related
with higher susceptibility of endometriosis. T and C allele frequencies in both groups were: (1) 49.2/50.8%; (2) 39.8/60.2%
(p-value=0.046). Despite the CYP17* T allele appearing to be asscoiatd with a trend of increased risk of endometriosis, CYP17
5′-UTR gene polymorphism might not be a useful marker for prediction of endometriosis susceptibility. 相似文献
13.
Binwu Ying Yunying Shi Xiaofu Pan Xingbo Song Zhunchun Huang Qian Niu Bei Cai Lanlan Wang 《Molecular biology reports》2011,38(1):379-385
The decrease of anti-inflammatory cytokine and increase of pro-inflammatory cytokine was observed in rheumatoid arthritis
(RA). Interleukin-10 (IL-10), a potent anti-inflammatory cytokine, has been demonstrated to suppress joint swelling and deformation
in RA animal model. Interleukin-18 (IL-18), a widely distributed pro-inflammatory cytokine, induces the production of IFN-γ,
activate NK cells, and promote inflammation. Recent studies demonstrated that the serum IL-10 and IL-18 levels may be influenced
by genetics and related to susceptibility to several autoimmune diseases. In the present study, using polymerase chain reaction–restriction
fragment length polymorphism (PCR–RFLP) and DNA sequencing techniques, we analyzed the genotype and allele distributions of
two single nucleotide polymorphisms (SNP) loci in the promoter region of IL-10 and IL-18 genes (IL-10-592 A/C and IL-18-607
A/C loci, respectively). Our results indicated that IL-10-592 allelic and genotypic frequencies were significantly different
between the RA patients and normal subjects (P < 0.05). In addition, significant differences of IL-10-592 allelic and genotypic frequencies were also detected between the
patients with or without anti-cyclic citrullinated peptide antibody (anti-CCP) (P < 0.05). In contrast, allelic and genotypic frequencies of IL-18-607 did not show significant difference between RA patients
and normal subjects (P > 0.05) or between anti-CCP-positive and anti-CCP-negative RA patients (P > 0.05). Furthermore, ELISA detection of IL-10 and IL-18 serum levels revealed that the genotype of IL-10-592 was associated
with IL-10 serum level (P < 0.05), but the genotype and allele frequency of IL-18-607 was not associated with IL-18 serum level (P > 0.05). Taken together, our findings provide new insight for the polymorphism of IL-10 gene in the pathogenesis of RA. 相似文献
14.
Some studies have shown that IL-18 was associated with aetiology and progression of asthma. However, the association between
single-nucleotide polymorphisms −607C/A (rs1946518) and −137G/C (rs187238) located in the IL-18 gene promoter and asthma risk
was still controversial and ambiguous. To derive a more precise effect on the association between these polymorphisms and
asthma risk, we performed a meta-analysis based on the currently available evidence of the literature. A total of 5 studies
with 1411 cases and 1525 controls for −607C/A polymorphism and 5 studies with 1883 cases and 6645 controls for −137G/C polymorphism
were identified to perform a meta-analysis, up to October 2010. Summary ORs and corresponding 95% CIs for IL-18 polymorphisms
and asthma were estimated using fixed- and random-effects models when appropriate. Heterogeneity and publication bias were
evaluated. We found that individuals carrying AC/CC genotype of −607C/A polymorphism were associated with an increased asthma
risk in recessive model (OR = 1.278; 95% CI, 1.073–1.522). However, no significant association was observed between −137G/C
polymorphism and asthma risk under different contrast models. There was no evidence of publication bias. The present meta-analysis
suggested that IL-18 −607C/A polymorphism in promoter region was associated with asthma risk. 相似文献
15.
Methionine synthase reductase (MTRR) gene is involved in tumorigenesis by regulating DNA methylation through activation of methionine synthase (MTR). MTRR is polymorphic at nucleotide 66 (A-to-G) and the resulting variant enzyme has a lower affinity for MTR. The reported associations of MTRR A66G polymorphism with cancer risk are contradictory. Therefore, we performed a meta-analysis to better assess the associations,
including 18,661 cases and 27,678 controls from 35 studies. Crude ORs with 95% CIs were used to assess the strength of association
between the MTRR
A66G polymorphism and cancer risk. The pooled ORs were performed for homozygote model (GG vs. AA), heterozygote model (GG vs.
GA), recessive genetic model (GG vs. GA + AA), and dominant genetic model (GG + GA vs. AA), respectively. Overall, results
indicated that the G allele and GG variant genotypes were associated with a significantly increased cancer risk (G vs. A:
OR, 1.039; 95% CI, 1.009–1.078; homozygote model: OR, 1.094; 95% CI, 1.006–1.191). In subgroup analysis by ethnicity, significant
increased risks were found among Asians with G allele (G vs. A: OR, 1.063; 95% CI, 1.011–1.119; homozygote model: OR, 1.189;
95% CI, 1.055–1.341; recessive model: OR, 1.197; 95% CI, 1.068–1.341). For stratification analysis, the cancer types with
fewer than three studies were categorized into “other cancers”, and the results indicated that there was a significant elevated
cancer risk in “other cancers” in all genetic models, not in colorectal cancer, lymphoid leukemia or breast cancer. In summary,
our study suggests that the MTRR A66G polymorphism is a potential biomarker for cancer risk. 相似文献
16.
Edith Falcón-Ramírez Leonora Casas-Avila Antonio Miranda Pilar Diez Clementina Castro Julieta Rubio Rocío Gómez Margarita Valdés-Flores 《Molecular biology reports》2011,38(5):2987-2992
The Sp1 binding site polymorphism in collagen type I alpha 1 gene (COLIA1) has been associated with osteoporosis (OP) and
bone mineral density (BMD). The aim of this study was to explore the association of this polymorphism with OP and BMD in the
Mexican population by polymerase chain reaction and restriction fragment length polymorphism (PCR–RFLP) procedure. Allelic
and genotypic frequencies from the Sp1 polymorphism were determined in 100 women with OP, 100 women without OP and 500 subjects
from general Mexican population (GMP). Distribution of Sp1 polymorphism was in Hardy–Weinberg equilibrium. In spite of population
structure due to racial mix in Mexican population, associations with OP were demonstrated. The frequency of “s” allele was
significantly higher in women with OP (35%) than in women without OP (11%; P < 0.00001). Interestingly, “ss” genotype, was exclusive of women with OP and was associated with low BMD (0.588 ± 0.077 g/cm2) in contrast to “SS” genotype (0.733 ± 0.039 g/cm2; P = 0.0001). This work confirms the association of Sp1 polymorphism with low BMD and OP in Mexican population and make sure
to use Sp1 as a genetic marker for OP in our population. 相似文献
17.
Angiotensinogen and angiotensin-I converting enzyme gene polymorphisms and the risk of coronary artery disease in Chinese 总被引:2,自引:0,他引:2
Y.-L. Ko S.-M. Wang Y.-S. Ko Po-Hsien Chu Ming-Sheng Teng Nye-Jan Cheng Wei-Jan Chen Tsu-Shiu Hsu Chi-Tai Kuo Chen-Wen Chiang Ying-Shiung Lee 《Human genetics》1997,100(2):210-214
The homozygous deletion allele (DD) of the angiotensin-I converting enzyme (ACE) gene and the T235 homozygote of the angiotensinogen
(AGT) gene have been reported to be correlated with an increased prevalence of coronary artery disease (CAD) and myocardial
infarction (MI). The importance of the DD genotype and T235 homozygote as genetic risk factors for CAD in Chinese remains
uncertain. This study included 426 patients who underwent coronary angiography and 180 healthy subjects without clinical evidence
of CAD. Coronary angiography identified 268 patients with CAD (CAD group) and 158 patients without CAD. The healthy subjects
and patients without angiographic evidence of CAD constituted the control group. Three polymorphisms were studied: an insertion/deletion
(I/D) polymorphism of the ACE gene and the T174 M and M235T polymorphisms of the AGT gene. No association was found between
any of the three studied polymorphisms and the risk of CAD or MI in Chinese using univariate or multivariate analysis. In
multivariate analysis, the relative risks were 1.20 (95% confidence interval = 0.91–1.61, P = 0.20) for the DD genotype, 1.05 (95% CI = 0.82–1.35, P = 0.69) for the T174 homozygote, and 1.19 (95% CI = 0.91–1.55, P = 0.20) for the T235 homozygote. Similarly, no significant difference was found in the frequencies of the DD genotype and
the T174 and T235 homozygotes between the control group, the CAD group, the non-MI group, and the MI group when analyzed according
to sex, age, or degree of risk. Our data suggest that neither the DD genotype of the ACE I/D polymorphism nor the T174 and
T235 homozygotes of the AGT gene confer significant risk for CAD or MI in Chinese.
Received: 18 December 1996 / Accepted: 27 February 1997 相似文献
18.
Liu F Liu J Zheng TS Li Q Wang C Pan XP Lu H Zhao YW 《Cell biochemistry and biophysics》2012,62(2):273-279
The protein tyrosine phosphatase non-receptor 22 (PTPN22) gene encodes for lymphoid protein tyrosine phosphatase. Recent studies demonstrated the association between the +1858T,
−1123G>C variants of PTPN22 gene and type 1 diabetes mellitus in Caucasian and Japanese populations. This study examined the relationship between the
polymorphism of PTPN22 gene and latent autoimmune 1 diabetes in adults (LADA) in Chinese Hans. We studied 229 adult Chinese patients with LADA (LADA
group) and 210 healthy volunteers (control group). The −1123G>C and +1858C>T polymorphisms of PTPN22 gene were determined by PCR-restriction fragment length polymorphism method. Further, genotypic/allelic frequencies and clinical
characteristics were compared between two groups. There was a significant difference of frequencies of the −1123G>C polymorphism
between LADA and control groups (OR = 1.99, 95% CI = 1.24–3.2; P = 0.001). However, no significant differences in the +1858C>T genotypic (CC, CT) and allelic (C, T) frequencies were found.
Furthermore, the frequencies of the −1123 GC, CC genotype in male patients with LADA were significantly higher compared with
male healthy volunteers (OR = 1.65, 95% CI = 1.21–2.26; P = 0.005). The analysis of covariance demonstrated no difference between glycosylated hemoglobin, body mass index, duration
of diabetes, C-peptide, and GAD-Ab titer between the group carrying GC/CC and the group without allele C. In conclusion, the
−1123G>C promoter polymorphism of PTPN22 gene, but not the +1858C>T variant, is associated with LADA in adult Chinese Hans. 相似文献
19.
The aim of this study was to determine whether the interleukin-10 (IL-10) polymorphisms confer susceptibility to rheumatoid
arthritis (RA). A meta-analysis was conducted on the associations between the IL-10 −1082 G/A, −592 C/A, −892 C/T and IL-10.R
polymorphisms and RA using; (1) allele contrast, (2) the recessive model, (3) the dominant model, and (4) the additive model.
A total of 16 studies (19 comparisons) involving 2647 RA patients and 3383 controls were considered in the meta-analysis.
Meta-analysis of the IL-10 −1082 G/A polymorphism showed no association with RA in the study subjects, or in European or Asian
subjects. However, meta-analysis of the −1082 G allele in 4 studies in Hardy–Weinberg equilibrium showed a significant association
with RA (OR = 1.217, 95% CI = 1.027–1.442, P = 0.0236). In contrast, meta-analysis of the C allele, the CC genotype, and of the CC versus the AA genotype of the IL-10
−592 C/A polymorphism showed significant associations with RA. The overall ORs of the associations between the C allele and
RA were 0.684 and 0.758 (95% CI = 0.494–0.946, P = 0.022; 95% CI = 0.475–1.210, P = 0.045) in all study subjects and Asians. Meta-analysis of the CC + CT versus TT genotype and of the CC versus TT genotype
of the IL-10 −892 C/T polymorphism revealed significant associations with RA. The overall OR of the association between the
C allele carrier and RA was 0.552 (95% CI = 0.375–0.812, P = 0.003). No association was found between the IL10.R2 alleles and RA. This meta-analysis suggests that the IL-10 −592 C/A
polymorphism confers susceptibility to RA in Asians and that the IL-10 −1082 G/A and −892 C/T polymorphisms are associated
with RA susceptibility. These findings suggest the IL-10 genes confer susceptibility to RA. 相似文献
20.
G. Ren H. Chen L. Z. Zhang X. Y. Lan T. B. Wei M. J. Li Y. J. Jing C. Z. Lei J. Q. Wang 《Molecular biology reports》2010,37(1):417-422
Heterozygous mutations in LHX4 are associated with combined pituitary hormone deficiency. In this study, the polymorphism of LHX4-HaeIII locus was revealed in 822 individuals from four Chinese cattle breeds. The PCR–RFLP analysis showed that there were three
genotypes: GG, GA, AA. The frequencies of genotype GG ranged from 0.6620 to 0.9789 in analyzed populations. The genotypic
frequencies of LHX4 locus in the four populations all agreed with Hardy–Weinberg equilibrium (P > 0.05). Distributions of genotypic frequencies of different breeds (QC, NY, JX, CH) at this locus were found to be significantly
different based on a χ
2 test (P < 0.001). The genetic diversity analysis revealed the JX cattle possessed intermediate genetic diversity, and the other three
Chinese cattle breeds belonged to poor genetic diversity. Correlation analysis with growth traits in the NY breed indicated
that: the animals with genotype GA had greater body weight than those with genotype GG (P < 0.05); the animals with GA genotype owned significantly longer body length than the ones with GG genotype (P < 0.05) at 18 and 24 months. 相似文献