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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.
Growth differentiation factor (GDF)-15 belongs to a member of the transforming growth factor-β cytokine superfamily, and elevated
GDF-15 concentrations are linked to increased risk of cardiovascular diseases and future adverse cardiac events in apparently
healthy elderly women, acute coronary syndrome, and chronic heart failure. However, its genetic mechanisms are still unknown.
We investigated whether GDF-15 −3148C>G variant (SNP, rs4808793) is associated with a predisposition to coronary artery disease
(CAD) and its severity in a Chinese population. We studied 418 consecutive patients, including 192 with coronary stenosis
≥50% or previous myocardial infarction and 226 controls without documented CAD. Coronary artery disease cases and controls
were genotyped for SNP rs4808793 by using the ligase detection reaction method. The three genotypes CC, CG, and GG were present
in rs4808793. No differences were found in genotype distribution and allele frequencies of rs4808793 between subjects with
and without CAD, or when grouped according to sex. Logistic regression did not reveal any increased risk of CAD in subjects
carrying the CG, GG genotype, or G allele at rs4808793 compared with individuals carrying the CC genotype or C allele; this
finding was the same when subjects were grouped by sex (all P > 0.05). Rs4808793 does not affect main anthropometric and metabolic characteristics, nor did there exists any association
between rs4808793 and the severity of coronary lesions (all P > 0.05). Our data do not support an association of rs4808793 with CAD or its severity in a Chinese population. 相似文献
3.
4.
Background Two single nucleotide polymorphisms (SNPs, rs10757278 and rs2383207) on chromosome 9p21 have been proved to be associated
with myocardial infarction. We investigated whether these two genetic markers are determinants of early-onset coronary artery
disease. Methods and results A total of 444 consecutive patients were studied including 212 cases with coronary stenosis ≥50% or previous myocardial infarction and 232 controls without documented coronary artery disease. Ligase detection reaction
was performed to detect two SNPs. After adjustment of clinical parameters, significant associations were identified for the
rs2383207 and rs10757278 SNPs, with A/G and G/G genetypes at rs10757278 and G/G genetype carriers at rs2383207 having a higher
risk of early-onset coronary artery disease than carriers of A/A genotype (odds ratio [OR] 2.207, 95% CI: 1.069–4.394, P = 0.028; OR 3.051, 95% CI: 1.086–8.567, P = 0.004; OR 2.964, 95% CI: 1.063–8.265, P = 0.038, respectively). There were no associations between rs10757278 and rs2383207 genotypes and the severity of coronary
artery disease (both P > 0.05). Conclusions The rs10757278 and rs2383207 variants are determinants for early-onset coronary artery disease. These markers may help the
identification of patients at increased risk for early-onset coronary artery disease.
Zhong Chen and Qi Qian contributed equally to this paper. 相似文献
5.
Background
Recently, single nucleotide polymorphisms (SNPs) (DLK-rs10144321, SIX6-rs1254337, MKRN3-rs12148769, LIN28B-rs7759938, and KCNK9-rs1469039) were found to be strongly associated with age at menarche. Recent studies also suggested that age at menarche is a heritable trait and is associated with risks for obesity, type 2 diabetes mellitus (T2DM), cardiovascular disease, and all-cause mortality. Since an association between these five SNPs and premature coronary artery disease (CAD) has never been reported, we investigated whether these SNPs are associated with premature CAD and its severity in a Chinese Han population.Methods
We enrolled 432 consecutive patients including 198 with premature CAD (<55 years in men and <65 years in women) and 234 controls. All subjects were genotyped for the five SNPs by the PCR-ligase detection reaction method. The associations between these SNPs and premature CAD and its severity were analyzed.Results
The following genotypes were identified: GG, AG, and AA at rs10144321 and rs12148769; TT, AT, and AA at rs1254337; CC, CT, and TT at rs1469039; and TT and CT at rs7759938. Significant differences in genotype distribution frequencies at rs1254337 were found between controls and patients with premature CAD (P<0.05). No associations were found between the five SNPs and the severity of coronary lesions (all P>0.05). Compared with controls, patients with premature CAD had a higher prevalence of T2DM and dyslipidemia, and the proportion of patients with T2DM rose significantly with an increase in the number of stenosed coronary vessels (all P<0.05). After adjustment for the clinical parameters in multivariable analysis, three factors were identified that significantly increased the risk of premature CAD: the AA genotype at rs1254337 (OR: 2.388, 95% CI: 1.190–4.792, P = 0.014), male gender (OR: 1.565, 95% CI: 1.012–2.420, P = 0.044), and T2DM (OR 2.252, 95% CI: 1.233–4.348, P = 0.015).Conclusions
Among the five pubertal transition-related gene polymorphisms, we identified an association between rs1254337 and premature CAD in a Chinese Han population. 相似文献6.
Associations of polymorphisms in TXNIP and gene–environment interactions with the risk of coronary artery disease in a Chinese Han population 下载免费PDF全文
Shuai Zhang Ning‐hua Cui Ze‐jin Liu Zhu‐liang Huang Cong Li Fang Zheng 《Journal of cellular and molecular medicine》2016,20(12):2362-2373
Single nucleotide polymorphisms (SNPs) in thioredoxin‐interacting protein (TXNIP) gene may modulate TXNIP expression, then increase the risk of coronary artery disease (CAD). In a two‐stage case–control study with a total of 1818 CAD patients and 1963 controls, we genotyped three SNPs in TXNIP and found that the variant genotypes of SNPs rs7212 [odds ratio (OR) = 1.26, P = 0.001] and rs7211 (OR = 1.23, P = 0.005) were significantly associated with increased CAD risk under a dominant model. In haplotype analyses, compared with the reference haplotype, haplotype ‘G‐T’ had a 1.22‐fold increased risk of CAD (P = 0.003). We also observed the cumulative effects of SNPs rs7212 and rs7211 on CAD risk and the severity of coronary atherosclerosis. Moreover, the gene–environment interactions among the variant genotypes of SNP rs7212, smoking habit, alcohol drinking habit and history of type 2 diabetes were associated with a 3.70‐fold increased risk of CAD (P < 0.001). Subsequent genotype‐phenotype correlation analyses further observed the significant effects of SNP rs7212 on TXNIP mRNA expression, plasma TXNIP and malondialdehyde levels. Taken together, our data suggest that TXNIP SNPs may individually and cumulatively affect CAD risk through a possible mechanism for regulating TXNIP expression and gene–environment interactions. 相似文献
7.
Esteghamati A Mansournia N Nakhjavani M Mansournia MA Nikzamir A Abbasi M 《Molecular biology reports》2012,39(4):3791-3797
The relation of Two single nucleotide polymorphisms (SNPs) at the adiponectin locus (+45T/G and +276G/T) with coronary artery
disease (CAD) is controversial. The aim of the present study was to evaluate the genetic influence of the adiponectin gene
polymorphisms in the development of CAD among patients with Type 2 diabetes (T2D). The adiponectin genotypes were detected
by polymerase chain reaction and restriction analysis (PCR-RFLP) in our patients. Two adiponectin gene (ADIPOQ) SNPs (i.e.
SNPs +45T>G and +276G>T) were genotyped in 114 Type 2 diabetic subjects with CAD, and 127 Type 2 diabetic patients without
CAD. Demographic and anthropometric data along with plasma biochemistry including lipids, glycemic indices, and adiponectin
were collected. There was a significant difference in the distribution of genotypes of +45T/G and +276G/T between CAD and
non-CAD individuals (P < 0.05). Based on our results SNP+276G>T is associated with decreased risk of CAD after adjustment for potential confounding
factors [adjusted OR = 0.39 (95%CI: 0.22–0.68); P = 0.001]. Similar findings were not observed for the +45T>G SNP. Two haplotypes 45T-276T and 45G-276T were associated with
a decreased risk of CAD [adjusted OR = 0.47 (95% CI: 0.32–0.94); P = 0.03 and adjusted OR = 0.33 (95% CI: 0.13–0.83); P = 0.02 respectively]. No significant difference was observed between HOMA-IR, BMI, waist circumference, history of hypertension,
HbA1C, and lipid concentrations regarding the two SNPs. In conclusion, these findings suggest that T allele of +276G>T SNP
is significantly associated with decreased risk of CAD in T2D Patients. Also Haplotype analysis showed that two haplotypes
45T-276T and 45G-276T were associated with a decreased risk of CAD. 相似文献
8.
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
9.
Yuanyuan Liu Min Ke Ming Yan Shuren Guo Mane Emily Mothobi Qiang Chen Fang Zheng 《Molecular biology reports》2011,38(2):1301-1307
GJA8 plays an important role in lens growth and transparency. Therefore, we hypothesized that two single nucleotide polymorphisms
(SNPs) in GJA8 might be associated with age-related cataract. We investigated the SNPs rs1495960 and rs9437983 using polymerase chain reaction-restriction
fragment length polymorphism (PCR-RFLP) and DNA sequencing, in 96 age-related cataract patients, and 208 gender- and age-matched
healthy controls. No significant differences between cases and controls were seen in genotype or allele distributions of rs1495960
(P > 0.05). The allele distribution of rs9437983 was different between cases and controls, but no difference was detected in
its genotype distribution. Cataract patients had a significantly lower G–G haplotype frequency (4.9% vs. 15.5%, P = 0.0001), and a significantly higher G–A haplotype frequency (45.6% vs. 36.4%, P = 0.030) than controls. Limiting to nuclear cataract cases significantly increased the differences between cases and controls
for G–G and G–A haplotypes. These results support that the GJA8 gene may be a novel susceptibility gene for age-related cataracts. 相似文献
10.
Zhong Chen Qi Qian Chengchun Tang Jiandong Ding Yi Feng Genshan Ma 《Molecular biology reports》2013,40(2):1021-1026
Two novel single nucleotide polymorphisms (SNPs; rs7529229 and rs2228145) in the interleukin-6 receptor (IL6R) gene have recently been associated with coronary heart disease (CHD) in a European population. We sought to replicate this finding and to investigate associations of these two SNPs with the severity and clinical phenotypes of premature CHD in a Chinese Han population. A total of 418 patients were studied, including 187 cases with coronary stenosis ≥50 % or acute myocardial infarction (males < 55 years and females < 65 years) and 231 controls without documented CHD. A ligase detection reaction was performed to detect rs7529229 and rs2228145. There were no differences between the controls and premature CHD groups in the frequencies for the three genotypes and alleles of rs7529229 and rs2228145 (all P > 0.05), nor did they differ between the two groups when grouped by gender (all P > 0.05). There were also no associations between these two SNPs and the severity of coronary lesions or clinical phenotypes of premature CHD (all P > 0.05). Our results do not support an association between rs7529229 or rs2228145 with premature CHD in the Chinese Han population. Further studies are warranted to elucidate the role of these two SNPs in the development of atherosclerosis and CHD. 相似文献
11.
We investigated the association between two single nucleotide polymorphisms (SNPs) in the adiponectin gene (rs822395 and rs266729) and coronary artery disease (CAD) in a case-control study of 198 unrelated Chinese CAD patients (with ≥ 70% coronary stenosis or previous myocardial infarction) and 237 non-CAD controls. The ligase reaction was used to detect SNPs rs822395 and rs266729, and the allelic association of these SNPs with the occurrence and severity of CAD was assessed. There were no significant differences in the genotypic or allelic frequencies of the two SNPs between control and CAD individuals. In addition, there was no association between the two SNPs and the severity of CAD based on the number of diseased vessels. The frequencies of alleles C and G at rs266729 differed significantly between females in the CAD and control groups, but not between males. Female carriers of allele G at rs266729 had a higher risk of CAD compared with allele C carriers (OR = 1.30, 95% CI: 1.09-2.64, p = 0.02). These results indicate a gender-specific effect of the adiponectin gene rs266729 variant in modulating the risk of CAD in women. 相似文献
12.
Zou M Li D Lv R Zhou Y Wang T Liu J Tao C Ying B Wang L 《Molecular biology reports》2012,39(4):3385-3391
Numerous linkage and association studies have been performed to identify genetic predispositions to schizophrenic (SCZ) in
different populations, but its genetic basis remains unclear. Some findings may provide a clue in understanding the association
between abnormal immunity and SCZ. MicroRNA (miRNA) involves in regulating both schizophrenic and immunity as previous reported.
And single nucleotide polymorphisms (SNPs) within miRNAs can change their characteristics, resulting in functional and/or
phenotypic changes. So two SNPs (hsa-pre-mir-146a rs2910164 G>C and hsa-mir-499 rs3746444 T>C) at two miRNAs, were genotyped
to demonstrate their association with susceptibility to SCZ. Polymorphisms were analyzed among 268 Chinese schizophrenic patients
and 232 healthy controls by PCR-RFLP and validated by sequencing. No association was found between the two polymorphisms and
SCZ either in cases or in controls. SCZ patients with family history showed significant increase of the G allele frequency
of rs2910164 in comparison to those without (P = 0.018). The CC genotype frequency of rs3746444 was also higher in the patients having hallucinations than those without
hallucinations (P = 0.012). In addition, patients carrying CC genotype of rs3746444 were more likely to be lack of motivation in comparison
to normal controls (P = 0.042). Allele and genotype frequency of rs2910164 showed no significant difference between patients and normal subjects
or between patients with and without clinical variables. Although patients carrying CC genotype of rs3746444 were found to
be more likely to develop hallucination and individuals carrying C allele to lack motivation, there is lacking association
between SCZ and the two SNPs at miRNAs, which may regulate immune response. 相似文献
13.
Maitra A Shanker J Dash D Sannappa PR John S Siwach P Rao VS Sridhara H Kakkar VV 《Journal of genetics》2010,89(4):437-447
We investigated the promoter polymorphisms of the pituitary growth hormone gene (GH1) and exon 3 deletion polymorphism (GHRd3) in its receptor gene (GHR) in 299 angiographically proven patients with coronary artery disease (CAD) and 231 asymptomatic controls enrolled in the
ongoing Indian Atherosclerosis Research Study. Real time PCR based analysis of the GHR variant showed significant association of the GHRd3 deletion allele with CAD (OR 0.48, 95% CI: 0.30–0.76, P = 0.0014) and a dominant model of inheritance (Akaike information criterion = 482). The deletion allele showed significant
association with high plasma HDL-c levels (P = 0.001). Sequencing of the proximal promoter region of GH1 revealed 12 novel polymorphisms and a TAGA haplotype constituted by the functional SNPs rs2005171, rs11568828, rs2005172 and rs6171, that showed significant association
with CAD alone (adjusted OR of 3.31 (95% CI = 1.33–8.29, P = 0.011) and in CAD patients with diabetes (P = 0.019). Mean standardized height was associated with three of the four haplotype-tagging SNPs in the cohort (P ≤ 0.03). Eleven of the 12 polymorphic promoter SNPs contributed to 14.7% of variation in height in females in the whole dataset
(P = 0.029). CAD patients with history of stroke exhibited marginally significantly lower mean height as compared to rest of
the cohort (P < 0.006). In conclusion, genetic polymorphisms in the GHR gene and its ligand, GH1, may modulate the risk of CAD in the Asian Indian population. 相似文献
14.
Assimes TL Knowles JW Priest JR Basu A Volcik KA Southwick A Tabor HK Hartiala J Allayee H Grove ML Tabibiazar R Sidney S Fortmann SP Go A Hlatky M Iribarren C Boerwinkle E Myers R Risch N Quertermous T 《Human genetics》2008,123(4):399-408
Recent human genetic studies suggest that allelic variants of leukotriene pathway genes influence the risk of clinical and
subclinical atherosclerosis. We sequenced the promoter, exonic, and splice site regions of ALOX5 and ALOX5AP and then genotyped 7 SNPs in ALOX5 and 6 SNPs in ALOX5AP in 1,552 cases with clinically significant coronary artery disease (CAD) and 1,583 controls from Kaiser Permanente including
a subset of participants of the coronary artery risk development in young adults study. A nominally significant association
was detected between a promoter SNP in ALOX5 (rs12762303) and CAD in our subset of white/European subjects (adjusted odds ratio per minor allele, log-additive model,
1.32; P = 0.002). In this race/ethnic group, rs12762303 has a minor allele frequency of 15% and is tightly linked to variation at
the SP1 variable tandem repeat promoter polymorphism. However, the association between CAD and rs12762303 could not be reproduced
in the atherosclerosis risk in communities study (hazard rate ratio per minor allele; 1.08, P = 0.1). Assuming a recessive mode of inheritance, the association was not significant in either population study but our
power to detect modest effects was limited. No significant associations were observed between all other SNPs and the risk
of CAD. Overall, our findings do not support a link between common allelic variation in or near ALOX5 or ALOX5AP and the risk of CAD. However, additional studies are needed to exclude modest effects of promoter variation in ALOX5 on the risk of CAD assuming a recessive mode of inheritance.
Themistocles L. Assimes and Joshua W. Knowles contributed equally to this work. 相似文献
15.
Hamed Akbari Gholamreza Asadikaram Sina Vakili Mohammad Masoumi 《Journal of cellular biochemistry》2019,120(6):9159-9171
The aim is to explore the treatment effect of coronary artery disease (CAD) and hypertension on plasma levels of renalase activity and also the possible association of renalase rs10887800 gene polymorphism with CAD and hypertension. A total of 286 patients who received coronary angiography were included in the study. Subjects were divided into four groups including (1) hypertensive with no CAD (H-Tens, n = 60); (2) CAD with hypertension (CAD + H-Tens, n = 71); (3) CAD with no hypertension (CAD, n = 61); and (4) nonhypertensive with no CAD as a control group (Con, n = 69). The plasma renalase activity was measured using the Amplex Red Monoamine Oxidase Assay Kit. Renalase rs10887800 single-nucleotide polymorphisms (SNPs) were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Atorvastatin (P = 0.005), losartan (P < 0.001), and captopril (P = 0.001) were administered significantly more in case groups compared with the Con group. Significant higher and lower levels of renalase activity were observed in H-Tens and CAD patients compared with control subjects (P < 0.001 for both comparisons). Furthermore, no significant differences were obtained in the risk or protective effects of renalase rs10887800 SNP against hypertension and/or CAD in both recessive and dominant genetic models (P > 0.05). According to the findings of the present study, atorvastatin and losartan therapy assumes considerable significance in alleviating hypertension, but not CAD, by increasing the renalase activity. Furthermore, it was found that renalase rs10887800 is less likely a predisposing factor for susceptibility to hypertension and/or CAD in an Iranian southeast population. 相似文献
16.
Gong-Qing Shen Domenico Girelli Lin Li Oliviero Olivieri Nicola Martinelli Qiuyun Chen Eric J. Topol Qing K. Wang 《Gene》2013
Our previous studies identified a functional SNP, R952Q in the LRP8 gene, that was associated with increased platelet activation and familial and early-onset coronary artery disease (CAD) and myocardial infarction (MI) in American and Italian Caucasian populations. In this study, we analyzed four additional SNPs near R952Q (rs7546246, rs2297660, rs3737983, rs5177) to identify a specific LRP8 SNP haplotype that is associated with familial and early-onset CAD and MI. We employed a case–control association design involving 381 premature CAD and MI probands and 560 controls in GeneQuest, 441 individuals from 22 large pedigrees in GeneQuest II, and 248 MI patients with family history and 308 controls in an Italian cohort. Like R952Q, LRP8 SNPs rs7546246, rs2297660, rs3737983, and rs5177 were significantly associated with early-onset CAD/MI in both population-based and family-based association studies in GeneQuest. The results were replicated in the GeneQuest II family-based population and the Italian population. We then carried out a haplotype analysis for all five SNPs including R952Q. One common haplotype (TCCGC) was significantly associated with CAD (P = 4.0 × 10− 11) and MI (P = 6.5 × 10− 12) in GeneQuest with odds ratios of 0.53 and 0.42, respectively. The results were replicated in the Italian cohort (P = 0.004, OR = 0.71). The sib-TDT analysis also showed significant association between the TCCGC haplotype and CAD in GeneQuest II (P = 0.001). These results suggest that a common LRP8 haplotype TCCGC confers a significant protective effect on the development of familial, early-onset CAD and/or MI. 相似文献
17.
In spite of its strong familiality, gene identification for coronary artery disease (CAD) has not yielded a consistent picture.
One major reason for this is that families or cases and controls were not recruited from a homogeneous population. We, therefore,
attempted to map genes underlying 10 quantitative traits (QTs) that are known precursors of CAD in a homogeneous population
(Marwari) of India. The QTs are apolipoprotein B (ApoB), C-reactive protein (CRP), fibrinogen (FBG), homocysteine (HCY), lipoprotein
(a) (LPA), cholesterol – total (CHOL-T), cholesterol – HDL (CHOL-H), cholesterol – LDL (CHOL-L), cholesterol – VLDL (CHOL-V)
and triglyceride (TG). We assayed 209 SNPs in 31 genes among members of Marwari families. After log-transformation and covariate-adjustment
of the QTs, a two-step analysis was performed. In Step-1, data on unrelated individuals were analysed for association with
the SNPs. In Step-2, for validation of Step-1 results, a quantitative transmission-disequilibrium test on parent–offspring
data was performed for each SNP found to be significantly associated with a QT in Step-1 on an independent sample set drawn
from the same population. Statistically significant results found for the various QTs and SNPs were: rs3774933, rs230528,
rs230521, rs1005819 and rs1609798 (intronic, NFKB1) with APOB; rs5361 (Missense, R > S, SELE) and rs4648004 (Intronic, NFKB1) with FBG; rs4220 (Missense, K > R, FGB) with HCY; and rs3025035 (Intronic, VEGFA) with CHOL-H. SNPs in SELE, VEGFA, FGB and NFKB1 genes impact significantly on levels of quantitative precursors of CAD in Marwaris. 相似文献
18.
Koç Öztürk L Ulucan K Akyüz S Furuncuoğlu H Bayer H Yarat A 《Molecular biology reports》2012,39(5):5677-5682
The aim of this study was to investigate carbonic anhydrase (CA) VI Exon 2 single nucleotide polymorphism (SNP) and its possible
association with salivary parameters in type 2 diabetic patients compared to healthy adults. Caries status was measured by
using the DMFT (number of decayed, missing, and filled teeth) index. Unstimulated whole saliva and blood samples were taken.
SNPs of CA gene exon 2 were determined by PCR and DNA sequencing. Salivary CA activity and buffering capacity were determined
by the method of Verpoorte and Ericson, respectively. Furthermore, salivary pH was measured with pH paper and salivary flow
rate was calculated. Salivary buffering capacity and pH were significantly lower in diabetic patients than those of healthy
subjects (P < 0.05). Salivary flow rate, CA activity and DMFT levels did not differ between groups (P > 0.05). Four SNPs were detected; their pubmed database number are rs2274327 (C/T), rs2274328 (A/C), rs2274329 (G/C) and
rs2274330. While first three of those were responsible for amino acid changes, the last one was not. The frequencies of SNPs
were not significant between groups (P > 0.05). Positive significant correlation was found between CA activity and the frequency of SNPs. There was no correlation
between the SNPs frequencies and pH or buffering capacity. SNPs found in this study may be related to salivary CA activity
in diabetics. 相似文献
19.
Zhenyan Fu Hong Yang Yitong Ma Ding Huang Xiang Xie Yingying Zheng Qing Zhu Tomohiro Nakayama 《Gene》2013
Background
CYP4A11 converts arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE), which has a crucial role in the modulation of cardiovascular homeostasis. We assessed the association between the human CYP4A11 gene and coronary artery disease (CAD) in Han and Uygur populations in China.Methods and Results
In the Han population, 361 CAD patients and 315 controls were genotyped for four single-nucleotide polymorphisms (SNPs) of the human CYP4A11 gene (rs9332978, rs4660980, rs3890011, rs1126742). In the Uygur population, 331 CAD patients and 182 controls were genotyped for the same four SNPs. Data were assessed via haplotype-based case–control studies. For the Han population, the significance of the recessive model of SNP3 (GG vs. CC+GC) between CAD patients and control subjects was retained after adjustment for EH, DM and smoking (for men, 95% CI: 1.173–3.013, P = 0.009). The G-G-T haplotype in CAD was significantly higher than that in the control group (P = 0.037). In the Uygur population, neither the distribution of genotypes and alleles for the four SNPs nor the distribution of haplotypes constructed with the same three SNPs showed a significant difference between CAD and control subjects.Conclusions
The GG genotype of rs3890011 and the G-G-T haplotype in the CYP4A11 gene could be a useful genetic marker of CAD in Han populations in China. 相似文献20.
Jun Bian Zhenjian Zhuo Jinhong Zhu Zhonghua Yang Zhang Jiao Yong Li Jiwen Cheng Haixia Zhou Suhong Li Li Li Jing He Yanfei Liu 《Journal of cellular and molecular medicine》2020,24(16):9280-9286
Neuroblastoma ranks as the most commonly seen and deadly solid tumour in infancy. The aberrant activity of m6A‐RNA methyltransferase METTL3 is involved in human cancers. Therefore, functional genetic variants in the METTL3 gene may contribute to neuroblastoma risk. In the current nine‐centre case‐control study, we aimed to analyse the association between the METTL3 gene single nucleotide polymorphisms (SNPs) and neuroblastoma susceptibility. We genotyped four METTL3 gene SNPs (rs1061026 T>G, rs1061027 C>A, rs1139130 A>G, and rs1263801 G>C) in 968 neuroblastoma patients and 1814 controls in China. We found significant associations between these SNPs and neuroblastoma risk in neither single‐locus nor combined analyses. Interestingly, in the stratified analysis, we observed a significant risk association with rs1061027 AA in subgroups of children ≤ 18 months of age (adjusted OR = 1.87, 95% CI = 1.03‐3.41, P = .040) and females (adjusted OR = 1.86, 95% CI = 1.07‐3.24, P = .028). Overall, we identified a significant association between METTL3 gene rs1061027 C>A polymorphism and neuroblastoma risk in children ≤18 months of age and females. Our findings provide novel insights into the genetic determinants of neuroblastoma. 相似文献