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1.
The purpose of our study was to evaluate the correlation between the β-fibrinogen gene −148C/T and −455G/A polymorphisms and
susceptibility to coronary artery disease in the Chinese population using a meta-analytic approach. Eligible studies about
this correlation were identified by searching the PubMed, EMBASE, and CNKI databases. Of the 13 identified, 7 (with 1488 cases
and 1234 controls) involved the −148C/T polymorphism and 9 (with 1023 cases and 1081 controls) involved the −455G/A polymorphism.
No publication bias was detectable and heterogeneity testing found significant differences between the ORs for both groups
of studies. The combined OR for the 7 studies on susceptibility to coronary artery disease in −148T allele carriers compared
to the −148C/C wild-type homozygotes was 1.31 (95%CI: 0.94–1.84, P=0.11). The combined OR for the 9 studies on susceptibility to coronary artery disease in −455A allele carriers compared to
the −455G/G wild-type homozygotes was 1.75 (95%CI: 1.24–2.46, P=0.001). Our results suggest the absence of an association between the β-fibrinogen gene −148C/T polymorphism and susceptibility
to coronary artery disease and the possibility that −455G/A polymorphism (in particular, allele A) increases susceptibility
to this disease in the Chinese population. 相似文献
2.
Carole A. Foy Gillian I. Rice Nicholas Ossei-Gerning Michael W. Mansfield P. J. Grant 《Human genetics》1997,100(3-4):420-425
The angiotensin converting enzyme (ACE) gene is implicated as a risk factor for coronary artery disease and myocardial infarction
(MI). An insertion/deletion (I/D) polymorphism is believed to be in linkage disequilibrium with a functional site elsewhere.
Ten polymorphisms have recently been identified in the ACE gene. We screened patients undergoing coronary angiography (n = 258) for six of these polymorphisms (T-5491C, T-93C, A-240T, T1237C, D/I and 4656(CT)2/3), and identified a further two rare polymorphisms. ACE levels were associated with genotype for all polymorphisms analysed
individually by one way ANOVA (P < 0.0005). The polymorphisms occurring in the 5′ region were in negative linkage disequilibrium with the exonic and 3′ region
polymorphisms. The A-240T polymorphism had the greatest association with ACE levels (R2 = 14%); none of the others were significantly associated with levels when adjustment was made for A-240T. None of the polymorphisms
were associated with the extent of coronary atheroma. Two of the promoter polymorphisms (A-240T and T-93C) were weakly related
to the occurrence of MI (P = 0.03 and P = 0.05, respectively, by χ2 analysis). The TT genotype of A-240T appeared to be protective against MI with an odds ratio of 0.31 (95% confidence interval,
0.12, 0.83). These findings indicate that polymorphisms in the ACE gene promoter region may have a stronger association with
disease than the I/D polymorphism.
Received: 16 February 1997 / Accepted: 13 May 1997 相似文献
3.
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
4.
Yan-yan Li Hui Wang Yang-yang Zhang 《Journal of cellular and molecular medicine》2021,25(18):8877-8889
It has been implied that there is a possible relationship between cyclin-dependent protein kinase inhibitors antisense RNA 1 (CDKN2B-AS1) gene rs4977574 A/G polymorphism and coronary heart disease (CHD) susceptibility. However, as the research results are discrepant, no distinct consensus on this issue has been reached so far. In order to further elaborate the latent association of the CDKN2B-AS1 gene rs4977574 A/G polymorphism and CHD, this present meta-analysis was conducted. There were 40,979 subjects of 17 individual studies in the present meta-analysis. The pooled odds ratios (ORs) and their corresponding 95% confidence intervals (CIs) were estimated to determine the association strength. Considering the significant heterogeneity among the individual studies, the random-effect models were used. In the current meta-analysis, a significant association between CDKN2B-AS1 gene rs4977574 A/G polymorphism and CHD was found under allelic (OR: 1.18, 95% CI: 1.08–1.29, p = 4.83×10−4), recessive (OR: 1.36, 95% CI: 1.11–1.67, p = 0.003), dominant (OR: 0.71, 95% CI: 0.58–0.86, p = 6.26×10−4), heterozygous (OR:1.210, 95% CI: 1.076–1.360, p = 0.001), homozygous (OR: 1.394, 95% CI: 1.163–1.671, p = 3.31×10−4) and additive (OR: 1.180, 95% CI: 1.075–1.295, p = 4.83×10−4) genetic models. A more significant association between them was found in the Asian population than that in the whole population under these genetic models (p < 0.05). However, no significant association between them was found in the Caucasian population (p > 0.05). CDKN2B-AS1 gene rs4977574 A/G polymorphism was associated with CHD susceptibility, especially in the Asian population. G allele of CDKN2B-AS1 gene rs4977574 A/G polymorphism is the risk allele for CHD. 相似文献
5.
Dosenko VE Lutaĭ IaM Zagoriĭ VIu Parkhomenko AN Moĭbenko AA 《T?Sitologii?a i genetika》2005,39(2):49-54
Endothelial NO-synthase (eNOS) gene allelic polymorphism in 221 patients with acute coronary syndrome and in 83 practically healthy people was determined. It was shown that interrelations of normal homozygotes, heterozygotes and pathologic homozygotes in T/C promoter polymorphism analysis accout 48%, 36% and 16% correspondingly (in control--48%, 46%, 6%; P < 0.05 by chi2-test); in G894 --> T polymorphism ofexon 7 analysis--34%, 58%, 8% (in control--29%, 67%, 4%; P > 0.05), and in determination of 4a/4b polymorphism of intron 4--64.5%, 31% and 4.5% (in control--62.5%, 32.5%, 5%; P > 0.05). Obtained data show that eNOS C/C promoter variant is a risk factor of acute coronary syndrome in Ukrainian population. 相似文献
6.
7.
T. V. Zheikova M. V. Golubenko S. V. Buikin O. Yu. Botkina O. A. Makeeva A. A. Lezhnev E. V. Kalyanov I. V. Tsimbalyuk V. N. Maksimov M. I. Voevoda V. M. Shipulin V. P. Puzyrev 《Molecular Biology》2012,46(3):433-437
In this study, we genotyped polymorphism in GPX1 Pro198→Leu (C→T) rs 1050450 in four groups, i.e., patients with coronary artery disease, people who lived a long time (over 90 years), people who died early (before 55 years) from cardiovascular disease, and the Russian population as a control group. We have found a significant higher T-allele frequency in men with coronary artery disease, i.e., 34.84% (χ2 = 5.228, p = 0.022; OR =1.46), and in men who died early from cardiovascular diseases, 38.16% (χ2 = 6.461, p = 0.011; OR = 1.69) compared to men in the control group, 26.8%. Moreover, a significantly higher genotype TT frequency has been shown in patients with coronary artery disease and myocardial infarction before age 50, which is 19.44% compared to the control group, which was 7.28% (χ2 = 9.55, p = 0.002). The TT frequency in individuals who lived a long time (4.39%) was the lowest and differed significantly from the group with coronary artery disease, which was 12.79% (χ2 = 8.07, p = 0.0045), and from the subgroup with coronary artery disease with myocardial infarction before age 50, which was 19.44% (χ2 = 14.49, p = 0.0001). Thus, our results indicate that the TT allele (Leu) of GPX1 Pro198→Leu (C > T) polymorphism is unfavorable for successful aging; it leads to predisposition to coronary artery disease, early myocardial infarction (before age 50), and early death (before age 55). 相似文献
8.
Many studies have suggested that transforming growth factor-β1 (TGF-β1) gene might be involved in the development of hypertension. However, results have been inconsistent. In this study, the authors
performed a meta-analysis to investigate the associations of +869T/C and +915G/C polymorphisms in TGF-β1 gene with hypertension risk in Chinese. Published literature from PubMed, EMBASE, CNKI, CBM, and Wanfang Data were searched.
Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using fixed or random-effects model. Nine studies
(1,995 cases/1,840 controls) for +869T/C polymorphism and seven studies (1,547 cases/1,577 controls) for +915G/C polymorphism
were included in the meta-analysis. The overall result showed that there was a statistically significant association between
+869T/C polymorphism and hypertension risk (CC vs. TT: OR = 1.80, 95% CI 1.34–2.44). Similar results were found among two
geographic locations and two subgroups with different sample size. However, no significant association was found for +915G/C
polymorphism with the risk of hypertension (CC vs. GG: OR = 1.66, 95% CI 0.74–3.74). The meta-analysis indicated the significant
association of +869T/C, but not +915G/C polymorphism with hypertension susceptibility. However, given the limited sample size,
the associations warrant further investigation. 相似文献
9.
A. Szczepankiewicz A. Bręborowicz P. Sobkowiak L. Kramer A. Popiel 《Journal of applied genetics》2009,50(3):275-281
The aims of this study were: (1) to find associations of asthma with single-nucleotide polymorphisms (SNPs) within theADRB2 gene: Arg16Gly, Gln27Glu, −1023 G/A, −367 T/C, −47 C/T ; (2) to define linkage disequilibrium in the gene region, basing
on the analyzed SNPs; and (3) to analyze the importance ofADRB2 polymorphism for response to bronchodilator drugs in children diagnosed with bronchial asthma. We compared 113 asthmatic
children and 123 healthy subjects from the Polish population. Genotyping was performed by PCR-RFLP. We found an association
of the A allele of −1023A/GADRB2 polymorphism with asthma (P = 0.024). No significant associations with other SNPs were detected. Moderate linkage was found between Gln27Glu and −47C/T
polymorphisms in linkage disequilibrium analysis (D’ = 0.85,r
2 = 0.429, LOD = 31.97). No significant differences were found in haplotype frequencies in comparison to the control group,
implicating that they are not associated with susceptibility to asthma in the analyzed population. There was no significant
correlation between the analyzed SNPs of theADRB2 gene and the response to β2-agonists. This is the first report providing suggestive evidence for association of —1023A/GADRB2 polymorphism with an increased risk of asthma. The analyzed SNPs may not play a major role in response to β2-agonists in asthmatic children. 相似文献
10.
Zielinska-Blizniewska H Sitarek P Milonski J Dziki L Przybylowska K Olszewski J Majsterek I 《Molecular biology reports》2012,39(5):5449-5457
Nasal polyps are strongly associated with a risk of chronic rhinosinusitis development as well as other obstruction including
asthma and allergy. The following study tested the association of the 140A/G polymorphism of lactoferine (LF) encoding gene
and the −33C/G polymorphism of osteoblast-specific factor-2 (OSF-2) encoding gene with a risk of chronic rhinosinusitis with nasal polyps in a Polish population. One hundred ninety five patients
of chronic rhinosinusitis with nasal polyps as well as 200 sex, age and ethnicity matched control subjects without chronic
sinusitis and nasal polyps were enrolled in this study. Among the group of patients 63 subjects were diagnosed with allergy
and 65 subjects with asthma, respectively. DNA was isolated from peripheral blood lymphocytes of patients as well as controls
and gene polymorphisms were analyzed by restriction fragments length polymorphism polymerase chain reaction (RFLP-PCR). We
reported that the 140A/G LF (OR 4.78; 95% CI 3.07–7.24), the −33C/G OSF-2 OR 3.48; 95% CI 2.19–5.52) and the −33G/G OSF-2 (OR 16.45; 95% CI 6.71–40.30) genotypes were associated with an increased risk of chronic rhinosinusitis with nasal polyps
among analyzed group of patients. Moreover, the group of patients without allergy or asthma indicated the association of the
−33C/G (OR 3.72; 95% CI 2.24–6.19 and OR 15.11; 95% CI 5.91–38.6) and −33G/G (OR 3.73; 95% CI 2.24–6.19 and OR 14.07; 95%
CI 5.47–36.16) genotypes of the OSF-2 as wells as 140A/G (OR 3.89; 95% CI 2.40–6.31 and OR 3.62; 95% CI 2.45–5.34) genotype of OSF-2 with an increased risk of chronic rhinosinusitis with nasal polyps. Finally, it was also found that the selected group of
patients with allergy or asthma indicated a very strong association of the −33C/G (OR 2.40; 95% CI 1.23–4.69 and OR 2.40;
95% CI 1.23–4.69, respectively) and −33G/G (OR 16.01; 95% CI 5.77–44.41 and OR 17.90; 95% CI 6.53–49.05, respectively) genotypes
of the OSF-2 as wells as 140A/G (OR 3.22; 95% CI 1.74–6.11 and OR 3.25; 95% CI 1.75–6.04, respectively) genotypes with an increased risk
of chronic rhinosinusitis with nasal polyps. Thus, our results suggest that LF and OSF-2 gene polymorphisms may have deep impact on the risk of rhinosinusitis nasal polyps’ formation which may also depend on asthma
or allergy. Our results showed that the 140A/G polymorphism of LF gene and the −33C/G polymorphism of the OSF-2 gene may be associated with the risk of chronic rhinosinusitis with nasal polyps in a Polish population. 相似文献
11.
12.
Walter Pretsch Bimal Chatterjee Jack Favor Siegbert Merkle Rodica Sandulache 《Mammalian genome》1998,9(2):144-149
Four independent heterozygous lactate dehydrogenase (LDH) mutations with approximately 60% of wild-type enzyme activity in
whole blood have been recovered. The mutant line Ldh1
a2Neu proved to be homozygous lethal, whereas for the three lines Ldh1
a7Neu, Ldh1
a11Neu, and Ldh1
a12Neu homozygous mutants with about 20% residual activity occurred in the progeny of heterozygous inter se matings. However, the
number of homozygous mutants was less than expected, suggesting an increased lethality of these animals. Various physicochemical
and kinetic properties of LDH are altered. Exons of the Ldh1 gene were PCR amplified and sequenced to determine the molecular lesion in the mutant alleles. Ldh1
a2Neu carried an A/T → G/C transition in codon 112 (in exon 3), resulting in an Asn → Asp substitution; Asn112 is part of the helix
αD, which is involved in the coenzyme-binding domain. Ldh1
a7Neu contained an A/T → C/G transversion within the codon for residue 194 in exon 4, causing an Asp → Ala substitution, which
may affect the arrangement of the substrate-binding site. Three base substituions were discovered for the mutation Ldh1
a11Neu in exon 7: the transition C/G → T/A, a silent mutation, and two transversions C/G → A/T and C/G → G/C, both missense mutations,
which led to the amino acid replacements Ala319 → Glu and Thr321 → Ser, respectively, located in the αH helix structure of
the COOH tail of LDHA. We suggest that the mutation is the result of a gene conversion event between Ldh1
a wild-type gene and the pseudogene Ldh1-ps. The alteration Ile → Thr of codon 241 in exon 6 caused by the base pair change T/A → C/G was identified in the mutation
Ldh1
a12Neu; IIe241 is included in the helix α2G, a structure that is indirectly involved in coenzyme binding. Each of the sequence alterations
has a potential impact on the structure of the LDHA protein, which is consistent with the decreased LDH activity and biochemical
and physiological alterations.
Received: 3 July 1997 / Accepted: 30 September 1997 相似文献
13.
L. Z. Akhmadishina G. F. Korytina T. V. Victorova 《Russian Journal of Genetics》2011,47(10):1248-1255
The contribution of the polymorphic markers of cytochrome P450 genes to respiratory diseases caused by smoking and occupational
factors has been assessed. For this purpose, PCR-RFLP analysis of the CYP1B1 (rs1056836, 4326C > G), CYP2F1 (rs11399890, c.14_15insC), CYP2J2 (rs890293, -76G > T), and CYP2S1 (rs34971233, 13106C > T and rs338583, 13255A > G) gene polymorphisms has been performed. The analysis has shown that CYP1B1 (rs1056836, 4326C > G) and CYP2F1 (rs11399890, c.14_15insC) polymorphisms may contribute to the development of occupational chronic bronchitis. The proportion
of CYP1B1*1*3 heterozygotes in the group of patients with occupational chronic bronchitis is considerably greater than in the group of
healthy workers (69.16% versus 53.29%; χ2 = 5.94, p = 0.02, p
cur = 0.04, OR = 1.97, the 95% CI is 1.13–3.42). Patients with occupational chronic bronchitis and healthy workers significantly
differed from each other in the CYP2F1 genotypes frequency distribution (rs11399890, c.14_15insC) (χ2 = 6.18, d.f. = 2, p = 0.05). CYP2F1 wild type/ins heterozygous genotype frequency is higher in healthy workers (36.08%) than in patients (22.22%) (χ2 = 5.48, p = 0.02, p
cur = 0.04, OR = 0.51, the 95% CI is 0.28–0.90). No association has been found between the CYP2J2 (rs890293, −76G > T) or CYP2S1 (rs34971233, 13106C > T, and rs338583, 13255A > G) gene polymorphisms and respiratory diseases. 相似文献
14.
Al-Daghri NM Al-Attas OS Alokail MS Alkharfy KM Hussain T 《Molecular biology reports》2011,38(6):3703-3708
Patients with type 2 diabetes (T2D) are more susceptible to develop cardiovascular complications than non-diabetic subjects.
Several studies have indicated a role of adiponectin gene in the increased coronary artery disease (CAD) risk in T2D patients.
The data however is limited and have been inconsistent. In this study we examined the association of SNP45T>G and SNP276G>T
of adiponectin gene with CAD risk in T2D patients in a Saudi population. A total of 418 type 2 diabetic patients were randomly
recruited in this study from the RIYADH COHORT. Of the total diabetes patients, 123 were also diagnosed to have CAD, while
the rest were control subjects. Anthropometric, clinical and biochemical parameters were measured by standard procedures.
Genotyping of polymorphisms was carried out by PCR–RFLP analysis. Genotype distribution of SNP45T>G was significantly (P = 0.005) different between control and CAD subjects, while the distribution of SNP276G>T genotypes was comparable between
the subjects. The SNP45T>G was significantly associated with risk of CAD [OR (95% CI), 4.7 (1.6–13.5), P < 0.003] but not SNP276G>T [OR (95% CI), 1.02 (0.53–1.9), P > 0.05]. The association of SNP45T>G with CAD risk remained significant even after adjusting for potential confounding factors
[OR (95% CI), 7.2 (1.1–45.9), P < 0.05]. The SNP45T>G of adiponectin gene is an independent risk factor for CAD in T2D patients in a Saudi population. These
findings support a role for adiponectin gene in the increased CAD risk in diabetes patients and are consistent with genetic
heterogeneity in the association between adiponectin gene and coronary artery disease. 相似文献
15.
Synowiec E Szaflik J Chmielewska M Wozniak K Sklodowska A Waszczyk M Dorecka M Blasiak J Szaflik JP 《Molecular biology reports》2012,39(3):2081-2087
Iron may be implicated in the generation of oxidative stress by the catalyzing the Haber–Weiss or Fenton reaction. On the
other hand, oxidative stress has been implicated in the pathogenesis of age-related macular degeneration (AMD) and heme oxygenase-1
(HO-1), encoded by the HMOX1 gene and heme oxygenase-2 (HO-2), encoded by the HMOX2 gene are important markers of iron-related oxidative stress and its consequences. Therefore, variability of the HMOX1 and HMOX2 genes might be implicated in the pathogenesis of AMD through the modulation of the cellular reaction to oxidative stress.
In the present work, we investigated the association between AMD and a G → C transversion at the 19 position in the HMOX1 gene (the 19G>C-HMOX1 polymorphism, rs2071747) and a A → G transition at the −42 + 1444 position in the HMOX2 gene (the −42 + 1444A>G-HMOX2 polymorphism, rs2270363) and its modulation by some environmental factors. 279 patients with AMD and 105 controls were recruited
in this study and the polymorphisms were typed by restriction fragment length polymorphism and allele-specific polymerase
chain reaction (PCR). We observed an association between the occurrence of dry AMD and the G/A genotype of the −42 + 1444A>G-HMOX2 polymorphism (odds ratio (OR) 2.72), whereas the G/G genotype reduced the risk of dry AMD (OR 0.41). The G/C genotype and
the C allele of the 19 G>C-HMOX1 polymorphism and the G/G genotype and the G allele of the −42 + 1444A>G-HMOX2 polymorphism were associated with progression of AMD from dry to wet form (OR 4.83, 5.20, 2.55, 1.69, respectively). On the
other hand, the G/G genotype and the G allele of the 19 G>C-HMOX1 polymorphism and the A/G genotype and the A allele of the −42 + 1444A>G-HMOX2 polymorphism protected against AMD progression (OR 0.19, 0.19, 0.34, 0.59, respectively). Therefore, the 19G>C-HMOX1 and the −42 + 1444A>G-HMOX2 polymorphisms may be associated with the occurrence and progression of AMD. 相似文献
16.
ALDH2 gene G487A polymorphism and coronary artery disease: a meta‐analysis including 5644 participants 下载免费PDF全文
Yan‐yan Li Hui Wang Jing‐jing Wu Hyun Jun Kim Xin‐xing Yang Hong‐yu Geng Ge Gong 《Journal of cellular and molecular medicine》2018,22(3):1666-1674
Several studies indicate the mitochondrial Aldehyde Dehydrogenase‐2 (ALDH2) gene G487A polymorphism may be correlated with coronary artery disease (CAD) susceptibility, but a clear consensus has yet to be reached. To elucidate the relationship between the ALDH2 gene G487A polymorphism and CAD within the Chinese population, a meta‐analysis of 5644 subjects from nine individual studies was performed. Pooled odds ratios (ORs) and their corresponding 95% confidence intervals were assessed using random or fixed‐effect models depending the heterogeneity existence or not. Our meta‐analysis found a significant association between ALDH2 gene G487A polymorphism and CAD in the Chinese population under allele (OR: 1.830, 95% CI: 1.560–2.140, P = 1.36 × 10?13), recessive (OR: 1.920, 95% CI: 1.530–2.390, P = 1.20 × 10?8), dominant (OR: 1.593, 95% CI: 1.336–1.900, P = 2.22 × 10?7), homozygous (OR: 2.280, 95% CI: 1.810–2.870, P = 3.17 × 10?12) and heterozygous genetic models (OR: 3.330, 95% CI: 2.070–5.370, P = 7.81 × 10?7). The positive correlation between the ALDH2 gene G487A polymorphism and CAD makes the mutation a strong candidate as a genetic risk marker for CAD. Through further analysis, we also found that A allele carriers of ALDH2 gene G487A polymorphism may be particularly susceptible to CAD. 相似文献
17.
Extensive polymorphism of the FUT2 gene in an African (Xhosa) population of South Africa 总被引:2,自引:0,他引:2
Yuhua Liu Yoshiro Koda Mikiko Soejima H. Pang Terry Schlaphoff Ernette D. du Toit H. Kimura 《Human genetics》1998,103(2):204-210
The human secretor type α(1,2)fucosyltrans-ferase gene (FUT2) polymorphism was investigated in Xhosa and Caucasian populations of South Africa by polymerase chain reaction–restriction
fragment length polymorphism and DNA sequencing. Six new base substitutions were found in the coding region of FUT2. A single base (C) deletion at nucleotide 778, which led to a frame shift and produced a stop codon at codon 275, was responsible
for the enzyme inactivation. Three nonsynonymous base substitutions, A40G (Ile14Val), C379T (Arg127Cys), and G481A (Asp161Asn), and two synonymous base substitutions, A375G (Glu125) and C480T (His160), were also identified in functional alleles. As a result, seven new alleles, Se
40
, Se
481
, Se
40,481
, Se
357,480
, Se
357,379,480
, Se
375
, and se
357,480,778
were identified. Population studies revealed that an allele containing a nonsense mutation G428A (Trp143stop) (se
428
) was the common null allele in both Xhosa and Caucasian populations, whereas an allele containing a missense A385T (Ile129Phe) mutation (se
357,385
), which is the common null allele in Orientals, was found to be absent from both populations. The heterozygosity rates of
FUT2 genotypes were as high as 0.75 in the Xhosa population and 0.65 in the Caucasian population. Therefore, the extensive polymorphism
and race specificity of the FUT2 gene make it suitable for application as a new tool in genetic studies of modern human evolutionary history.
Received: 23 March 1998 / Accepted: 9 May 1998 相似文献
18.
Young Ho Lee Jin-Hyun Woo Seong Jae Choi Jong Dae Ji Gwan Gyu Song 《Molecular biology reports》2010,37(1):227-234
Associations between polymorphisms of the osteoprotegerin gene (OPG) and bone mineral density (BMD) have been studied by several research groups, but results are mixed. Accordingly, the authors
performed a meta-analysis on studies of associations between OPG polymorphisms and BMD. Appropriate studies were identified using MEDLINE and by manual searching. A total of eight separate
comparisons were considered in this meta-analysis. Individuals with the GG genotype of G1181C were found to have a significantly
lower mean lumbar BMD than subjects with the CC genotype (WMDs −0.051 g/cm2, 95% confidence interval −0.079−−0.023, P < 0.001), and similar results were obtained in European and Asian populations. In contrast to G1181C, no association was
found between the A163G and T950C polymorphisms and lumbar BMD. In terms of femoral neck BMD, the GG genotype of G1181C was
associated with a significantly lower BMD than the CC genotype in Europeans but not in Asians. Total hip BMD was lower for
the GG genotype of G1181C than for the CC or GC genotypes in Europeans. A difference in total hip BMD was found between the
AG and GG genotypes of the A163G polymorphism by meta-analyses in Europeans, but no differences were found between the genotypes
of the T950C polymorphism and total hip BMD in Europeans. Summarizing, the present study demonstrates that the OPG G1181C polymorphism is associated with lumbar BMD in Europeans and Asians, and with femoral neck and total hip BMD in Europeans
only. 相似文献
19.
Vascular endothelial growth factor and its receptor the kinase domain receptor play critical roles in the pathogenesis of
coronary artery disease. Periostin is an up-regulator of kinase domain receptor expression. The purpose of this study was
to determine whether polymorphisms in periostin are associated with the risk of coronary artery disease. Two single nucleotide
polymorphisms (SNP C-33G, SNP A-953T) within the promoter region were chosen for further analyses. A case–control study was
carried out with patients of Han Chinese ethnicity, which consisted of 492 coronary artery disease cases and 498 controls.
Genotyping was performed by means of PCR and restriction fragment length polymorphism (PCR–RFLP) and the plasma level of periostin
was measured by enzyme-linked immunosorbent assay (ELISA). In our study, the TT genotype of SNP-A953T was present in the general
Chinese population (3.5%), but not in the Han Chinese from Beijing Project (HAPMAP CHB). Plasma periostin concentrations were
elevated significantly in patients with coronary artery disease (7.96 ± 8.33 nmol/l) compared with those in healthy volunteers
(3.93 ± 1.71 nmol/l) (P = 0.005). There was a significant correlation between the 953T genotype and the plasma level of periostin (r
2 = −0.490, P = 0.039). The prevalence of the TT genotype in patients was associated with a slightly lower risk of coronary artery disease
(OR = 0.443, 95% CI = 0.200–0.982), but was not significant after correction (OR = 0.427, 95% CI = 0.146–1.250). The periostin-33G
allele frequency was not significantly different in cases versus controls. Our data suggest that plasma periostin level may
serve as a biomarker for the risk of coronary artery disease, but the periostin polymorphisms SNPC-33G and SNPA-953T were
not significantly associated with the risk of coronary artery disease in this Chinese population. Although a major effect
of the SNPs in the periostin genes on coronary artery disease susceptibility was excluded, the effect of the A-953T SNP on
susceptibility and protein expression needs further investigation. 相似文献
20.
Lu N Yang Y Wang Y Liu Y Fu G Chen D Dai H Fan X Hui R Zheng Y 《Molecular biology reports》2012,39(6):6581-6589
The polymorphisms of angiotensin-converting enzyme 2 (ACE2) gene have been suggested to be linked to increase risk of essential hypertension in multiple populations. However, the
results are still debatable. To assess the association between ACE2 G8970A genetic polymorphism and essential hypertension, we conducted a meta-analysis of case–control studies across different
ethnicity. PubMed, Embase, CBM, Wanfang and VIP databases were searched, and a total of 11 separate studies in females and
nine separate studies in males met the inclusion criteria. Because ACE2 is on the X chromosome, data for each sex were analyzed separately. The selected studies contained 7,251 (4,472 females/2,779
males) hypertensive patients and 3,800 (2,161 females/1,639 males) normotensive controls. A statistically significant association
was observed between the G8970A gene polymorphism and essential hypertension risk in female hypertensive group in the recessive
genetic model (AA vs. GG+GA: P = 0.03, OR = 1.15, 95% CI = 1.02–1.30, P
heterogeneity = 0.40, I
2 = 5%, fixed-effects model). Although no association was shown between the frequency of the A allele and the genetic susceptibility
to essential hypertension in all male patients (A Allele: P = 0.38, OR = 1.10, 95% CI = 0.89–1.38, P
heterogeneity = 0.02, I
2 = 56%, random-effects model), we found that the relationship between carrier of A allele and the essential hypertension risk
in Han-Chinese male patients subgroup (A Allele: P = 0.006, OR = 1.21, 95% CI = 1.06–1.38, P
heterogeneity = 0.10, I
2 = 44%, fixed-effects model). The current meta-analysis provided solid evidence suggesting that ACE2 gene polymorphism G8790A was probably a genetic risk factor for essential hypertension across different ethnic populations
in female subjects and in Han-Chinese male subjects. 相似文献