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1.
Four single nucleotide polymorphisms (SNPs, rs2237892, rs2237895, rs2237897, rs2283228) in KCNQ1 are associated with type 2 diabetes mellitus in different ancestral groups. We investigated whether these 4 genetic markers
are determinants of type 2 diabetes and premature coronary artery disease (CAD) in a Chinese population. We studied 398 consecutive
patients, including 180 with coronary stenosis ≥50% or previous myocardial infarction (male <55 years, female <65 years) and
218 controls without documented CAD. CAD cases and controls were genotyped for 4 SNPs by using the ligase detection reaction
method. The 3 genotypes AA, AC, and CC were present in rs2283228 and rs2237895, and the 3 genotypes CC, CT, TT were present
in rs2237897 and rs2237892. No differences were found in genotype distribution and allele frequencies of these 4 SNPs between
subjects with and without type 2 diabetes. Logistic regression showed that the risk of premature CAD in subjects carrying
the CC genotype at rs2237892 was reduced by 90% in relation to individuals carrying the TT genotype (OR = 0.100, 95% CI: 0.018–0.564,
P = 0.009). The association of other 3 SNPs with premature CAD could not be detected, nor did there exist any association of
these 4 SNPs among groups of patients with 0, 1, 2, and 3-vessel disease (all P > 0.05). Our data implicate rs2237892 in KCNQ1 as a protective gene variant against premature CAD and we couldn’t replicate any association of these 4 SNPs with T2DM or
extent of coronary lesions in a Chinese population. 相似文献
2.
To date, epidemiological studies have assessed the association between Ataxia-telangiectasia mutated (ATM) gene polymorphisms
and cancer risk, including lung cancer, breast cancer, glioma and pancreatic cancer. However, the results of these studies
remain controversial. We aimed to examine the associations between two SNPs (rs664143 and rs664677) and cancer risk by conducting
a meta-analysis of case–control studies. A total of 12 publications were included in this meta-analysis, 8 for rs664143 and
7 for rs664677. Overall, rs664143 heterozygote carriers turned out to be associated with cancer risk (OR = 1.18, 95% CI 1.02–1.36).
In the subgroup analysis by cancer type, we observed that the ATM rs664143 polymorphism was significantly associated with
lung cancer risk (GA vs. GG: OR = 1.48, 95% CI 1.18–1.85, AA vs. GG: OR = 1.51, 95% CI 1.18–1.93) and rs664677 polymorphism
was associated with decreased lung cancr risk and increased breast cancer risk (for lung cancer: TC vs. TT: OR = 0.76, 95%
CI 0.62–0.92, CC vs. TT: OR = 0.80, 95% CI 0.64–0.99 and for breast cancer: TC vs. TT: OR = 1.42, 95% CI 1.17–1.73, CC vs.
TT: OR = 1.51, 95% CI 1.21–1.87). In the subgroup analysis by region, we also observed that individuals with ATM rs664143
GA or AA genotype had an obvious increased cancer risk among Asian people (GA vs. GG: OR = 1.40, 95% CI 1.20–1.63, AA vs.
GG: OR = 1.37, 95% CI 1.16–1.62). In conclusion, ATM rs664143 polymorphism was associated with cancer susceptibility. ATM
rs664143 polymorphism was significantly associated with lung cancer risk. ATM rs664677 polymorphism was associated with decreased
lung cancer risk as well as increased breast cancer risk. 相似文献
3.
Coronary artery disease (CAD) is multifactorial disease which occurs as a result of the interaction of genetic and environmental
factors. Obesity is an independent risk factor for cardiovascular disease. Recent genome-wide association studies have identified
several genes associated with obesity in Europeans. We wondered whether these genetic variants were associated with CAD. Three
single nucleotide polymorphisms (SNPs) rs7561317 near TMEM18, rs7138803 near BCDIN3D/FAIM2 and rs12970134 near MC4R were examined in 930 Han Chinese subjects based on coronary angiography, using polymerase chain reaction (PCR) followed by
restriction fragment length polymorphism (RFLP) analysis. There were no significant differences in genotypes and allele distributions
of three SNPs between CAD and CAD-free groups. The AA genotype of SNP rs12970134 near MC4R was associated to obesity both in CAD group and CAD-free group in Han Chinese population (P < 0.001, OR = 2.96, 95% CI 2.01–3.73; and P = 0.003, OR = 2.59, 95% CI 1.86–3.19, respectively). Our observations suggest that the polymorphism rs12970134 near MC4R may be associated to the risk of obesity in Han Chinese population. 相似文献
4.
Introduction PARP-1 plays important role in the BER (base excision repair) and maintenance of genomic integrity. Previous study found
the Val762Ala genetic variant in the PARP-1 gene contributed to susceptibility of some cancers and decreased PARP-1 enzyme
activity in response to oxidative damage. Helicobacter pylori (H. pylori) infection was thought to be one of the major causes of gastric cancer. In this study, we investigated the association between
the PARP-1 Val762Ala polymorphism, CagA+
H. pylori infection, and the risk for gastric cancer. Methods This hospital-based, case–control study was performed involving 556 individuals (236 cases with gastric cancer and 320 controls
without evidence of neoplasm and gastrointestinal disease) using a PCR-RFLP method. Chi-square test and logistic regression
analysis were used to count OR and 95% CI. Results 762Ala/Ala genotype was overrepresented in the cases (16.9%) compared with controls (10.3%), (OR, 1.942; 95% CI, 1.157–3.257,
P = 0.011). Multivariate analysis showed that two factors were significantly associated with risk of gastric cancer, including
CagA+
H. pylori infection (OR, 2.562; 95% CI, 1.174–5.240, P = 0.037), PARP-1 762AA genotype (OR, 1.772; 95% CI, 1.065–3.867; P = 0.042). Stratification analysis indicated that among Cag+
H. pylori positive subjects, 762Ala/Ala carriers had higher risk for developing gastric cancer compared with 762Val/Val carrier (OR,
2.337; 95% CI, 1.148–4.758; P = 0.017). Conclusion PARP-1 762Ala/Ala could be a risk factor for gastric cancer in Han Chinese population; PARP-1 762Val/Ala polymorphism and
Cag+
H. pylori infection jointly contribute to higher risk for gastric cancer. 相似文献
5.
Azam Khedri Amireh Nejat-Shokouhi Roham Salek Habibollah Esmaeili Ali Mokhtarifar Reza Entezari Heravi Farnoosh Tatari Javad Behravan Behnoosh Miladpour Shahireh Omidvar Tehrani 《Molecular biology reports》2011,38(5):2939-2943
The human multidrug resistance (MDR1) gene product P-glycoprotein is highly expressed in intestinal epithelial cells, where it constitutes a barrier against xenobiotics,
bacterial toxins, drugs and other biologically active compounds, possibly carcinogens. In this study, an association of MDR1 gene polymorphism and the occurrence of colorectal cancer were evaluated. In this case-control-designed 118 unrelated colorectal
cancer and 137 sex-and-ages matched healthy controls were enrolled. The C3435T MDR1 gene polymorphism was identified using the polymerase chain reaction-restriction fragment length polymorphism method. Significantly
increased frequencies of the 3435T allele and the 3435TT were observed in patients with colorectal cancer compared with controls
(P = 0.03; OR, 95% CI; 1.46 for 3435T allele and P = 0.003; OR, 95% CI; 2.2 for 3435TT genotype). In contrast, frequency of genotype TT was significantly higher in controls
compared to colorectal cancer (P = 0.006; OR, 95% CI; 0.49 for TC genotype). In this study suggest that C3435T MDR1 polymorphism has an association with colorectal cancer. The results support that the presence of allele C results in decreased
susceptibility to colorectal cancer. 相似文献
6.
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
7.
Xuejuan Jiang J. Esteban Castelao David Vandenberg Angel Carracedo Carmen M. Redondo David V. Conti Jesus P. Paredes Cotoré John D. Potter Polly A. Newcomb Michael N. Passarelli Mark A. Jenkins John L. Hopper Steven Gallinger Loic Le Marchand María E. Martínez Dennis J. Ahnen John A. Baron Noralane M. Lindor Robert W. Haile Manuela Gago-Dominguez 《PloS one》2013,8(4)
Background
Recent genome-wide studies identified a risk locus for colorectal cancer at 18q21, which maps to the SMAD7 gene. Our objective was to confirm the association between SMAD7 SNPs and colorectal cancer risk in the multi-center Colon Cancer Family Registry.Materials and Methods
23 tagging SNPs in the SMAD7 gene were genotyped among 1,592 population-based and 253 clinic-based families. The SNP-colorectal cancer associations were assessed in multivariable conditional logistic regression.Results
Among the population-based families, both SNPs rs12953717 (odds ratio, 1.29; 95% confidence interval, 1.12–1.49), and rs11874392 (odds ratio, 0.80; 95% confidence interval, 0.70–0.92) were associated with risk of colorectal cancer. These associations were similar among the population- and the clinic-based families, though they were significant only among the former. Marginally significant differences in the SNP-colorectal cancer associations were observed by use of nonsteroidal anti-inflammatory drugs, cigarette smoking, body mass index, and history of polyps.Conclusions
SMAD7 SNPs were associated with colorectal cancer risk in the Colon Cancer Family Registry. There was evidence suggesting that the association between rs12953717 and colorectal cancer risk may be modified by factors such as smoking and use of nonsteroidal anti-inflammatory drugs. 相似文献8.
Single nucleotide polymorphisms in vascular endothelial growth factor gene VEGF, 1498C/T and 936 C/T are associated with colorectal cancer. We sought to determine whether such genetic variability in VEGF contributes to susceptibility of colorectal adenoma (CRA), a presumably precancerous state of colorectal cancer. In this
research, two aforementioned polymorphisms were investigated for CRA susceptibility in a Chinese case–control study. The epidemiological
risk factors were collected through questionnaire. The plasma VEGF levels were measured via enzyme-linked immunosorbent assay
(ELISA). The Taqman-Probe assay was used to determine genotypes in 224 CRA patients and 200 CRA-free controls. The clinicopathological
data of each sample were collected for further correlation analysis. According to data analysis males, cigarette smokers,
patients who carry metabolic syndrome or familial antecedent of adenomas were significantly associated with CRA risk. Plasma
VEGF levels of CRA patients were higher than those of controls (P = 0.003). This difference is independent of genotypes. The carriers with 936CT and CT+TT had higher risk of CRA in comparison
with controls (CT vs. CC, OR 2.00, 95% CI 1.23–3.25, P = 0.006; CT+TT vs. CC, OR 2.04, 95% CI 1.28–3.26, P = 0.003). 936-T allele was associated with increased risk of CRA (OR 1.91, 95% CI 1.25–2.91, P = 0.003). Both CRA and control show no difference in the genotype of 1498C/T and the allele frequency of C−/T−. CRA patients
with haplotype 1498T+936T presented significantly higher risk than those with wild-type 1498T+936C. Moreover, patients carrying
936CT+TT and 936-T allele demonstrated a tendency for villous adenoma. CRA patients have elevated plasma VEGF levels. The
VEGF 936C/T polymorphism and 1498T+936T haplotype were found to be associated with increased CRA susceptibility. 相似文献
9.
The vascular endothelial growth factor (VEGF) gene has been suggested to play an important role in the pathogenesis of age-related macular degeneration (AMD). However,
the results have been inconsistent. In this study, we performed a meta-analysis to clarify the associations between VEGF polymorphisms and AMD risk across different populations. Published literature from PubMed and EMBASE were retrieved. Pooled
odds ratio (OR) with 95% confidence interval (CI) was calculated using fixed- or random-effects model. Five studies (1,280
cases and 715 controls) for rs833061 polymorphism, five studies (1,033 cases and 807 controls) for rs1413711 polymorphism,
and four studies (1,217 cases and 4,079 controls) for rs2010963 polymorphism were identified. No statistically significant
association was found for rs833061, rs1413711 and rs2010963 polymorphisms, although there were significant associations for
rs833061 polymorphism under a homogeneous co-dominant model (CC vs. TT: OR = 1.59, 95%CI 1.14–2.23) and for rs1413711 polymorphism
under a recessive model (TT vs. CT + CC: OR = 1.50, 95%CI 1.08–2.08), the results were not robust by sensitivity analysis.
However, there was a significant association for rs833061 among European and East Asian populations, and for rs1413711 among
Europeans. The present meta-analyses indicated that there were no significantly associations between VEGF polymorphisms (rs833061, rs1413711, rs2010963) and the risk of AMD, although the association was different for each polymorphism
among different populations. 相似文献
10.
The objective of this study was to examine the effect of genetic variants in fat mass and obesity associated (FTO) gene on metabolic syndrome (MetS). A systematic literature search was performed and random-effects meta-analysis was used
to evaluate genetic variants in FTO with MetS. A gene-based analysis was conducted to investigate the cumulative effects of genetic polymorphisms in FTO. A total of 18 studies from 13 published papers were included in our analysis. Random-effects meta-analysis yielded an estimated
odds ratio of 1.19 (95% CI 1.12–1.27; P = 1.38 × 10−7) for rs9939609, 1.19 (95% CI 1.05–1.35; P = 0.008) for rs8050136, and 1.89 (95% CI 1.20–2.96; P = 0.006) for rs1421085. The gene-based analysis indicated that FTO is strongly associated with MetS (P < 10−5). This association remains after excluding rs9939609, a SNP that was frequently reported to have strong association with
obesity and MetS. In this study, we concluded that the FTO gene may play a critical role in leading to MetS. Targeting this gene may provide novel therapeutic strategies for the prevention
and treatment of metabolic syndrome. 相似文献
11.
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
12.
Vimaleswaran KS Radha V Ramya K Babu HN Savitha N Roopa V Monalisa D Deepa R Ghosh S Majumder PP Rao MR Mohan V 《Human genetics》2008,123(6):599-605
Adiponectin is an adipose tissue specific protein that is decreased in subjects with obesity and type 2 diabetes. The objective
of the present study was to examine whether variants in the regulatory regions of the adiponectin gene contribute to type
2 diabetes in Asian Indians. The study comprised of 2,000 normal glucose tolerant (NGT) and 2,000 type 2 diabetic, unrelated
subjects randomly selected from the Chennai Urban Rural Epidemiology Study (CURES), in southern India. Fasting serum adiponectin
levels were measured by radioimmunoassay. We identified two proximal promoter SNPs (−11377C→G and −11282T→C), one intronic
SNP (+10211T→G) and one exonic SNP (+45T→G) by SSCP and direct sequencing in a pilot study (n = 500). The +10211T→G SNP alone was genotyped using PCR-RFLP in 4,000 study subjects. Logistic regression analysis revealed
that subjects with TG genotype of +10211T→G had significantly higher risk for diabetes compared to TT genotype [Odds ratio
1.28; 95% Confidence Interval (CI) 1.07–1.54; P = 0.008]. However, no association with diabetes was observed with GG genotype (P = 0.22). Stratification of the study subjects based on BMI showed that the odds ratio for obesity for the TG genotype was
1.53 (95%CI 1.3–1.8; P < 10−7) and that for GG genotype, 2.10 (95% CI 1.3–3.3; P = 0.002). Among NGT subjects, the mean serum adiponectin levels were significantly lower among the GG (P = 0.007) and TG (P = 0.001) genotypes compared to TT genotype. Among Asian Indians there is an association of +10211T→G polymorphism in the
first intron of the adiponectin gene with type 2 diabetes, obesity and hypoadiponectinemia. 相似文献
13.
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
14.
Wang JJ Zheng Y Sun L Wang L Yu PB Dong JH Zhang L Xu J Shi W Ren YC 《Molecular biology reports》2011,38(8):4847-4853
Colorectal cancer constitutes a significant proportion of the global burden of cancer morbidity and mortality. A number of
studies have been conducted to explore whether TP53 codon 72 polymorphism is associated with colorectal cancer susceptibility. However, controversial results were obtained.
In order to derive a more precise estimation of the relationship, we systematically searched Medline, Google scholar, and
Ovid database for studies reported before May 2010. A total of 3603 colorectal cancer cases and 5524 controls were included.
TP53 codon 72 polymorphism was not associated with colorectal cancer risk in all genetic models (for dominant model: OR = 0.99,
95% CI: 0.86–1.15; for recessive model: OR = 1.00, 95% CI: 0.81–1.23; for Arg/Pro vs. Arg/Arg: OR = 1.00, 95% CI: 0.87–1.15;
for Pro/Pro vs. Arg/Arg: OR = 0.97, 95% CI: 0.76–1.25). In the subgroup analyses by ethnic groups and sources of controls,
no significant associations were found in all models. Taken together, this meta-analysis suggested that the biologically usefulness
of TP53 codon 72 polymorphism as a selection marker in colorectal cancer susceptibility may be very limited. 相似文献
15.
Recent studies have identified common variants in or near GC, CYP2R1 and NADSYN1/DHCR7 to be associated with 25-hydroxyvitamin D [25(OH)D] levels in European populations. We aimed to examine whether these variants
also influence 25(OH)D levels in Chinese. Seven common variants were successfully genotyped and tested for associations with
plasma 25(OH)D levels in a population-based cohort of 3,210 Chinese Hans from Beijing and Shanghai. Six common variants at
GC (rs4588, rs7041, rs2282679 and rs1155563) and NADSYN1/DHCR7 (rs3829251 and rs1790349) loci were all significantly associated with lower plasma 25(OH)D levels (−0.036 ≤ β ≤ −0.076 per risk-allele, P ≤ 5.7 × 10−5), while CYP2R1-rs2060793 showed a trend toward association with 25(OH)D levels in the Shanghai subpopulation (P = 0.08), but not in the Beijing subpopulation (P = 0.82). Haplotype-based association analyses of the four GC variants showed that only the haplotype that contained all risk-alleles (TACC) was significantly associated with lower plasma
25(OH)D levels (β = −0.085, P = 2.3 × 10−9), while the haplotype containing the risk-alleles of rs4588 and rs2282679 (TATC) was marginally associated with lower 25(OH)D
levels (β = −0.054, P = 0.0562) when compared with GCTA haplotype carrying the four protective alleles. Most notably, conditional analyses showed
that only GC-rs4588 and GC-rs2282679 (r
2 = 0.97) remained significantly associated with 25(OH)D concentrations (P ≤ 1.9 × 10−5) after adjusting for the other two SNPs in GC. In conclusion, GC and NADSYN1/DHCR7 loci individually and collectively contribute to variation in plasma vitamin D levels in Chinese Hans. 相似文献
16.
Wei B Xu Z Ruan J Zhu M Jin K Zhou D Xu Z Hu Q Wang Q Wang Z 《Molecular biology reports》2012,39(2):1997-2002
Epidemiological studies have evaluated the association between MTHFR 677C>T and 1298A>C polymorphisms and risk of male infertility.
However, the results from the published studies on the association between these two MTHFR polymorphisms and male infertility
risk are conflicting. To derive a more precise estimation of association between the MTHFR polymorphisms and risk of male
infertility, we performed a meta-analysis. A comprehensive search was conducted to identify all case–control studies of MTHFR
polymorphisms and male infertility risk. We used odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength
of the association. Overall, we found that both 677C>T and 1298A>C polymorphisms were not significantly associated with male
infertility risk. However, in stratified analysis by ethnicity, we found that the 677C>T polymorphism was significantly associated
with the risk of male infertility in Asian population (TT vs. CC: OR = 1.57, 95% CI: 1.05–2.37, P = 0.03; TT vs. TC + CC: OR = 1.40, 95% CI: 1.05–1.86, P = 0.02; TT + TC vs. CC: OR = 1.34, 95% CI: 1.01–1.77, P = 0.04). Although some modest bias could not be eliminated, this meta-analysis suggested that the MTHFR 677T allele might
be a low-penetrant risk factor for male infertility, especially in Asian population. 相似文献
17.
The association between single-nucleotide polymorphisms (SNPs) of the CYP1B1 gene and lung cancer risk is still ambiguous.
In this meta analysis, we assessed 10 case–control studies included 7,067 cases and 9,374 controls of the association between
CYP1B1 SNPs of Leu432Val (rs1056836, 432C>G), Asn453Ser (rs1800440, 453A>G), Ala119Ser (rs1056827, 119G>T), Arg48Gly (rs10012,
48C>G) and the risk of lung cancer. Crude odds ratios (ORs) with 95% confidence intervals (CIs) were used to evaluate the
strength of association between the polymorphism and lung cancer risk under codominant model, dominant model and additive
model respectively. Although there were limitations, this meta analysis indicated that individuals with 432GG genotype had
a 39.7% higher risk of having lung cancer than those with the 432CC genotype, and individuals with the 432G allele had a 26.3%
increased risk as well. An increased risk of lung cancer of 2.13 fold was observed in individuals with 119TT genotype. For
Arg48Gly, individuals with 48GG genotype had a significantly increased risk of lung cancer compared with individuals with
48CC (OR 3.859; 95% CI 2.536–5.87). Elevated risk of lung cancer were observed in dominant model (OR 2.115; 95% CI 1.653–2.705)
as well. The risk of lung cancer was elevated as the frequency of G allele increased in additive model (P = 0.000). For individuals with the polymorphism at codon 453, no evidence of such association was observed. Furthermore,
a possible association between the CYP1B1 polymorphism at codon 432 and the lung cancer could be detected in individuals of
Caucasian origin, while a negative association was suggested in Asians and African-Americans. An increased lung cancer risk
was also found in women with polymorphism at codon 453. These results are supportive for the hypothesis that the CYP1B1 432GG,
119TT and 48GG genotypes are low-penetrance risk factors for developing lung cancer, and further studies are needed to validate
these associations. 相似文献
18.
Thrombospondin 1 (THBS1), a multi-domain glycoprotein, is secreted from astrocytes and promotes synaptogenesis. Increasing
evidence has suggested that not only various markers for synaptic pathology, but also astrocytes are affected in schizophrenia.
In this study, we investigated whether coding region single nucleotide polymorphisms (cSNPs) of the THBS1 gene were associated with schizophrenia and with the clinical symptoms of schizophrenia patients. We genotyped two cSNPs
[rs2228261 (Asn470Asn) and rs2292305 (Thr523Ala)] using direct sequencing in 220 schizophrenia patients and 376 control subjects.
In this study, rs2228261 revealed significant association with schizophrenia in both codominant (TT vs. CC, P = 0.009, OR = 2.10, 95% CI = 1.23–3.59) and recessive models (TT vs. CC/CT, P = 0.0012, OR = 2.28, 95% CI = 1.38–3.77). Also, rs2292305 was associated with schizophrenia in the recessive model (GG vs.
AA/AG, P = 0.0052, OR = 2.05, 95% CI = 1.24–3.38). Additionally, in the analysis of the haplotype, the CA and TG haplotypes consisting
of rs2228261 and rs2292305 were associated with schizophrenia in the dominant (P = 0.019, OR = 1.79, 95% CI = 1.10–2.90) and recessive models, respectively (P = 0.0086, OR = 0.51, 95% CI = 0.31–0.84). In further analysis according to the clinical symptoms, rs2292305 showed a weak
association with the poor concentration symptoms of schizophrenia patients in the dominant model (AG/GG vs. AA, P = 0.024, OR = 2.04, 95% CI = 1.09–3.83). The results suggest that the THBS1 gene may contribute to the susceptibility of schizophrenia. 相似文献
19.
To replicating the associations of type 2 diabetes (T2D) and six novel reported variants in Han Chinese lean individuals of
first episode T2D, a total of six high risk single nucleotide polymorphisms (SNPs) from the BCL11A, DUSP9, IRS1, CENTD2, ADRA2A, and CDKAL1 genes were examined. Candidate six SNPs were genotyped in 761 T2D patients and 433 control subjects, and associations between
the six SNPs and Body Mass Index (BMI), Fasting Plasma Glucose (FPG) and Two Hours Oral Glucose Tolerance Test (2hOGTT) were
also investigated. CDKAL1 provided the strongest evidence for replication, where rs7754840 was associated with T2D (odds ratio = 1.54, per copy of
the risk C allele, P = 8.10 × 10−7). SNP rs5945326 at DUSP9 showed modest significance (odds ratio = 0.81, per copy of the protective G allele, P = 0.02). After adjusting the confounders of age, gender and BMI, the above results remain significant for both rs7754840
(P < 1.0 × 10−4) and rs5945326 (P = 0.043) respectively. After correcting for multiple testing, however, only the association between T2D and rs7754840 at
CDKAL1 (P < 1×10−4) remains significant. In addition, the risk C allele of CDKAL1 rs7754840 was significantly associated with increased FPG levels (P = 3.8 × 10−4). The association between genetic variant in CDKAL1 gene was detected in the Han Chinese lean individuals. The correlation between rs7754840-C allele and increased FPG levels
is consistent with the potential function of CDKAL1 gene in pancreatic islets. 相似文献
20.
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