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1.
Lan Q Shen M Garcia-Rossi D Chanock S Zheng T Berndt SI Puri V Li G He X Welch R Zahm SH Zhang L Zhang Y Smith M Wang SS Chiu BC Linet M Hayes R Rothman N Yeager M 《Immunogenetics》2007,59(11):839-852
Selection and genetic drift can create genetic differences between populations. Cytokines and chemokines play an important
role in both hematopoietic development and the inflammatory response. We compared the genotype frequencies of 45 SNPs in 30
cytokine and chemokine genes in two healthy Chinese populations and one Caucasian population. Several SNPs in IL4 had substantial genetic differentiation between the Chinese and Caucasian populations (F
ST ~0.40), and displayed a strikingly different haplotype distribution. To further characterize common genetic variation in
worldwide populations at the IL4 locus, we genotyped 9 SNPs at the IL4 gene in the Human Diversity Panel’s (N = 1056) individuals from 52 world geographic regions. We observed low haplotype diversity, yet strikingly different haplotype
frequencies between non-African populations, which may indicate different selective pressures on the IL4 gene in different parts of the world. SNPs in CSF2, IL6, IL10, CTLA4, and CX3CR1 showed moderate genetic differentiation between the Chinese and Caucasian populations (0.15 < F
ST < 0.25). These results suggest that there is substantial genetic diversity in immune genes and exploration of SNP associations
with immune-related diseases that vary in incidence across these two populations may be warranted. 相似文献
2.
Genetic Variations in HSPA8 Gene Associated with Coronary Heart Disease Risk in a Chinese Population
Meian He Huan Guo Xiaobo Yang Li Zhou Xiaomin Zhang Longxian Cheng Hesong Zeng Frank B. Hu Robert M. Tanguay Tangchun Wu 《PloS one》2010,5(3)
Background
There is ample evidence that Hsp70 takes part in the progress of coronary heart disease (CHD). This implies that genetic variants of Hsp70 genes such as HSPA8 (HSC70) gene might contribute to the development of CHD. The present study aimed to investigate whether certain genetic variants of HSPA8 gene are associated with CHD in Han Chinese people.Methodology/Principal Findings
A total of 2006 subjects (1003 CHD cases and 1003 age- and sex- matched healthy controls) were recruited. Genetic variants in the HSPA8 gene were identified by sequencing of the gene in 60 unrelated Chinese. Four tag single nucleotide polymorphisms (tagSNPs) (rs2236659, rs2276077, rs10892958, and rs1461496) were selected and genotyped. The function of the significant SNP was evaluated using luciferase reporter assays in two cell lines. By sequencing the promoter and all exons and introns of the HSPA8 gene, 23 genetic variants were identified. One promoter SNP rs2236659 was associated with susceptibility to CHD. Carriers of the “C” allele of rs2236659 had decreased CHD risk with odds ratio (OR) of 0.78 (95% CI: 0.62, 0.98; P = 0.033) after adjustment for conventional risk factors. Haplotype analyses indicated that haplotype GCGC contributed to a lower CHD risk (OR = 0.78, 95% CI: 0.65, 0.93; P = 0.006) compared with the common haplotype AGGT. In a transfection assay, the C allele of rs2236659 showed a 37–40% increase in luciferase expression of the reporter gene luciferase in endothelial and non-endothelial cells compared with the T allele.Conclusions/Significance
These findings suggest that genetic variants in HSPA8 gene (especially promoter SNP rs2236659) contribute to the CHD susceptibility by affecting its expression level. 相似文献3.
Liping Hou Shufeng Chen Hongjiang Yu Xiangfeng Lu Jianhong Chen Laiyuan Wang Jianfeng Huang Zhongjie Fan Dongfeng Gu 《Human genetics》2009,125(1):11-20
The human PLA2G7 gene encodes lipoprotein-associated phospholipase A2 (Lp-PLA2), an emerging risk factor for cardiovascular diseases. In the present study, seven single nucleotide polymorphisms (SNPs)
in the PLA2G7 gene were genotyped in 827 patients with coronary heart disease (CHD), of which 512 were patients with myocardial
infarction (MI), and 947 age- and gender-matched controls in a Chinese Han population. Plasma Lp-PLA2 activity was measured in 416 randomly selected controls and 689 randomly selected CHD patients, including 423 MI patients.
Lp-PLA2 activity in CHD and MI cases was significantly higher (233.42 ± 57.66 and 234.27 ± 59.51 nmol ml−1 min−1, respectively) than in controls (211.47 ± 58.61 nmol ml−1 min−1). After adjusting for traditional risk factors by logistic regression, the odds ratios for CHD and MI per 1 standard deviation
increment of Lp-PLA2 activity were 1.27 (95% CI, 1.07–1.50) and 1.27 (95% CI, 1.05–1.54), respectively. Both single SNP analysis and haplotype
analysis showed that the V279F and I198T polymorphisms were significantly associated with the reduced Lp-PLA2 activity, but neither was associated with increased CHD risk. Both univariate and multivariate analyses, adjusting effects
of conventional factors, indicated that the rs13210554 T allele increased the risk of MI in this Chinese Han population. In
summary, an independent association of increased plasma Lp-PLA2 activity with CHD and MI existed in this Chinese Han Population. Although V279F and I198T mutations significantly decreased
the activity of Lp-PLA2, only the promoter rs13210554 polymorphism was associated with MI. Lp-PLA2 activity appears to influence the CHD and MI risk in Chinese Han population.
Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. 相似文献
4.
Neelam Dhiman Iana H. Haralambieva Richard B. Kennedy Robert A. Vierkant Megan M. O’Byrne Inna G. Ovsyannikova Robert M. Jacobson Gregory A. Poland 《Immunogenetics》2010,62(4):197-210
An effective immune response to vaccination is, in part, a complex interaction of alleles of multiple genes regulating cytokine
networks. We conducted a genotyping study of Th1/Th2/inflammatory cytokines/cytokine receptors in healthy children (n = 738, 11–19 years) to determine associations between individual single-nucleotide polymorphisms (SNPs)/haplotypes and immune
outcomes after two doses of rubella vaccine. SNPs (n = 501) were selected using the ldSelect-approach and genotyped using Illumina GoldenGate™ and TaqMan assays. Rubella-IgG
levels were measured by immunoassay and secreted cytokines by ELISA. Linear regression and post hoc haplotype analyses were
used to determine associations between single SNPs/haplotypes and immune outcomes. Increased carriage of minor alleles for
the promoter SNPs (rs2844482 and rs2857708) of the TNFA gene were associated with dose-related increases in rubella antibodies. IL-6 secretion was co-directionally associated (p ≤ 0.01) with five intronic SNPs in the TNFRSF1B gene in an allele dose-related manner, while five promoter/intronic SNPs in the IL12B gene were associated with variations in IL-6 secretion. TNFA haplotype AAACGGGGC (t-statistic = 3.32) and IL12B promoter haplotype TAG (t-statistic = 2.66) were associated with higher levels of (p ≤ 0.01) rubella-IgG and IL-6 secretion, respectively. We identified individual SNPs/haplotypes in TNFA/TNFRSF1B and IL12B genes that appear to modulate immunity to rubella vaccination. Identification of such “genetic fingerprints” may predict
the outcome of vaccine response and inform new vaccine strategies. 相似文献
5.
Jin-Xin Li Bao-Peng Tang Hui-Ping Sun Min Feng Zu-Heng Cheng Wen-Quan Niu 《Cell stress & chaperones》2009,14(4):355-362
Experimental evidence suggesting that heat shock protein 70 (Hsp70) gene or associated genes are responsible for the pathophysiology
of hypertension is accumulating. In this study, we focused on five polymorphisms in three genes (HSPA1A, HSPA1B, and HSPA1L)
of Hsp70 family to explore the genetic contribution, alone and in combination, of these polymorphisms to essential hypertension
risk in a Uygur population. Genotyping was performed using PCR-RFLP and direct sequencing techniques. Data were analyzed using
haplotype and multifactor dimensionality reduction (MDR) methods. Genotype distributions of all the polymorphisms satisfied
the Hardy–Weinberg proportions in cases and controls. Statistical significance was only observed in the genotype (P = 0.0028) and (P = 0.0146) allele distributions of −110A/C polymorphism, with the −110C allele conferring a 1.45- and 2.83-fold of relative
risk, assuming the additive and recessive models, respectively, and in 1267A/G genotype distribution (P = 0.0106) with the 1267G allele conferring a 44% reduced risk. The interaction information analysis indicated that polymorphisms
−110A/C and 1267A/G had a strong synergistic effect, while polymorphisms 2074G/C and 2437T/C had a moderate synergistic effect.
Haplotype analyses further strengthened the interaction information. Using the haplotype H1 as a reference, haplotype H4 had a 40% reduced risk, while haplotypes H5 and H8 had a significantly 5.00- and 3.75-fold increased risk for essential hypertension, respectively. Taken together, our results
supported strong genetic interaction of the studied polymorphisms with the risk of having essential hypertension in Uygur
ethnicity. Functional studies are warranted to confirm or refute these findings. This is the first study to evaluate the genetic
interaction information of the Hsp70 in Uygur ethnicity, which represents one of the major nationalities in China with high
homogeneity and unique lifestyles. Moreover, we employed the haplotype and MDR methods to explore the potential interaction
of Hsp70 genetic polymorphisms in the pathogenesis of essential hypertension in Uygur. 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.
ADAM33, a member of the ADAM (a disintegrin and metalloprotease) gene family, is an asthma susceptibility gene originally identified by positional cloning.
In the present study, we investigated the possible association of five single-nucleotide polymorphisms (SNPs) in the ADAM33 (rs511898, rs528557, rs44707, rs597980 and rs2787094) with adult-onset asthma in an Indian population. The study included
175 patients with mild intermittent (n = 44), mild persistent (n = 108) or moderate persistent (n = 23) subgroups of asthma, and 253 nonasthmatic control individuals. SNPs were genotyped with the help of restriction fragment
length polymorphism polymerase chain reaction (RFLP-PCR) method, and data were analysed using chi-square test and logistic
regression model. Bonferroni’s correction for multiple comparisons was applied for each hypothesis. Genotypes and allele frequencies
of SNPs rs511898 and rs528557 were significantly associated with adult-onset asthma (P = 0.010-<0.001). A significant association of the homozygous mutant genotype and mutant alleles of SNPs rs2787094, rs44707
and rs597980 with the asthma was also observed (P = 0.020-<0.001). A positive association between asthma and haplotypes AGCCT, GGCCT, AGACT, GCAGT, GGACT, ACCCC and AGACC
were also found (P = 0.036-<0.001, OR = 2.07–8.49). Haplotypes AGCGT, GCAGC, ACAGC, ACAGT, GGAGC and GGCGT appear to protect against asthma
(P = 0.013-<0.0001, OR = 0.34–0.10). Our data suggest that ADAM33 gene polymorphisms serve as genetic risk factors for asthma
in Indian adult population. 相似文献
8.
9.
Martín MC Martinez A Mendoza JL Taxonera C Díaz-Rubio M Fernández-Arquero M de la Concha EG Urcelay E 《Immunogenetics》2007,59(11):833-837
The great amount of nitric oxide (NO) produced by the inducible isoform of NO synthase (iNOS) exerts deleterious effects,
and iNOS expression is raised in the colonic mucosa of inflammatory bowel disease (IBD) patients. This is the first association
analysis of polymorphisms within the NOS2A extended gene with IBD susceptibility. We analyzed 336 patients of Crohn’s disease (CD), 355 of ulcerative colitis (UC),
and 536 healthy controls from a Spanish population. We tested a (CCTTT)n microsatellite, a (−/TAAA) insertion, and two single
nucleotide polymorphisms (SNPs) flanking them (rs2779251 and rs2779248) in the NOS2A promoter, together with two SNPs in the coding region: one within exon 10, D385D (rs1137933), and another mapping to exon
16, S608L (rs2297518). Analysis of these markers evidenced differences among IBD patients and healthy controls. Allele (CCTTT)
13 is related to higher UC risk (p = 0.001; odds ratio [OR] [95% confidence interval, CI] = 1.64 [1.20–2.23]). Carriers of minor alleles of the two promoter
SNPs analyzed showed an association with UC predisposition, and common allele homozygotes of the two exonic SNPs were more
frequent among CD patients than among controls. Concordantly, one out of the three haplotypes carrying both exonic risk alleles
was found to increase CD susceptibility (p = 0.007; OR [95%CI] = 1.74 [1.13–2.67]). Therefore, the NOS2A gene seems to be involved in IBD aetiology. 相似文献
10.
11.
Ying Zhao Yanbo Yu Xiaoli Tian Xi Yang Xueqi Li Feng Jiang Yundai Chen Maowei Shi 《PloS one》2014,9(1)
Background
Coronary heart disease (CHD) is one of the leading causes of mortality and morbidity in China. Genetic factors that predispose individuals to CHD are unclear. In the present study, we aimed to determine whether the variation of FoxOs, a novel genetic factor associated with longevity, was associated with CHD in Han Chinese populations.Methods
1271 CHD patients and 1287 age-and sex-matched controls from Beijing and Harbin were included. We selected four tagging single nucleotide polymorphisms (SNPs) of FoxO1 (rs2755209, rs2721072, rs4325427 and rs17592371) and two tagging SNPs of FoxO3 (rs768023 and rs1268165). And the genotypes of these SNPs were determined in both CHD patients and non-CHD controls.Results
For population from Beijing, four SNPs of FoxO1 and two SNPs of FoxO3 were found not to be associated with CHD (p>0.05). And this was validated in the other population from Harbin (p>0.05). After combining the two geographically isolated case-control populations, the results showed that the six SNPs did not necessarily predispose to CHD in Han Chinese(p>0.05). In stratified analysis according to gender, the history of smoking, hypertension, diabetes mellitus, hyperlipidemia and the metabolic syndrome, we further explored that neither the variants of FoxO1 nor the variants of FoxO3 might be associated with CHD (p>0.05).Conclusion
The variants of FoxO1 and FoxO3 may not increase the prevalence of CHD in Han Chinese population. 相似文献12.
Zheng Gu Su-Ling Hong Xia Ke Yang Shen Xiao-Qiang Wang Di Hu Guo-Hua Hu Hou-Yong Kang 《PloS one》2015,10(1)
Background
Heredity and environmental exposures may contribute to a predisposition to allergic rhinitis (AR). Autoimmunity may also involve into this pathologic process. FCRL3 (Fc receptor-like 3 gene), a novel immunoregulatory gene, has recently been reported to play a role in autoimmune diseases.Objective
This study was performed to evaluate the potential association of FCRL3 polymorphisms with AR in a Chinese Han population.Methods
Five single-nucleotide polymorphisms of FCRL3, rs945635, rs3761959, rs7522061, rs10489678 and rs7528684 were genotyped in 540 AR patients and 600 healthy controls using a PCR-restriction fragment length polymorphism assay. Allele, genotype and haplotype frequencies were compared between patients and controls using the χ2 test. The online software platform SHEsis was used to analyze their haplotypes.Results
This study identified three strong risk SNPs rs7528684, rs10489678, rs7522061 and one weak risk SNP rs945635 of FCRL3 in Chinese Han AR patients. For rs7528684, a significantly increased prevalence of the AA genotype and A allele in AR patients was recorded. The frequency of the GG genotype and G allele of rs10489678 was markedly higher in AR patients than those in controls. For rs7522061, a higher frequency of the TT genotype, and a lower frequency of the CT genotype were found in AR patients. Concerning rs945635, a lower frequency of the CC genotype, and a higher frequency of G allele were observed in AR patients. According to the analysis of the three strong positive SNPs, the haplotype of AGT increased significantly in AR cases (AR = 38.8%, Controls = 24.3%, P = 8.29×10-14, OR [95% CI] 1.978 [1.652~2.368]).Conclusions
This study found a significant association between the SNPs in FCRL3 gene and AR in Chinese Han patients. The results suggest these gene polymorphisms might be the autoimmunity risk for AR. 相似文献13.
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
14.
Sun H Wu H Zhang J Wang J Lu Y Ding H Xiao H Zhang J 《Molecular biology reports》2011,38(7):4731-4738
A genome-wide approach found significant association of two at-risk haplotypes (HapA, HapB) in the ALOX5AP gene with myocardial infarction and stroke. To date, it is still controversial whether ALOX5AP gene polymorphisms are risk factors for stroke. The aim of the present study is to investigate the association between the
ALOX5AP gene polymorphism and the risk for stroke in Eastern Chinese Han population with a haplotype-based analysis. We conducted
a comprehensive association study of 507 stroke patients and 510 healthy controls to assess the association between the ALOX5AP tagging single-nucleotide polymorphisms (tSNPs) and stroke risk. Genotyping was performed using the PCR–RFLP assay. In the
single-locus analysis, we found that the rs9579646 AG genotype was associated with a marginally decreased risk for stroke
(adjusted odds ratio, 0.65; 95% confidence interval, 0.45–0.96), compared with the AA genotype. Haplotype-based association
analysis of block 2 involving rs10507391 and rs12429692 revealed that the decreased risk of stroke was significantly associated
with haplotype AA (OR, 0.66; 95% CI, 0.46–0.95). These results suggested that the genetic variants in ALOX5AP might modulate the risk of stroke in Eastern Chinese Han population. The frequencies of single-marker alleles and haplotypes
showed remarkable differences from those in other populations. 相似文献
15.
Background/Objective
RAC1 gene could influence susceptibility to renal failure by altering the activity and expression of Rac1, which is a member of the Rho family of small GTP-binding proteins. In clinical practice, renal transplantation provides the optimal treatment for people with end-stage renal disease (ESRD). The objective of this present study was to determine whether the RAC1 gene polymorphisms were associated with primary ESRD susceptibility in Chinese renal recipients.Methods
Six single nucleotide polymorphisms (SNPs) of RAC1 gene, including rs836488 T>C, rs702482 A>T, rs10951982 G>A, rs702483 A>G, rs6954996 G>A, and rs9374 G>A, were genotyped in 300 renal transplant recipients (cases) and 998 healthy Chinese subjects (controls) by using TaqMan SNP genotyping assay. Allele, genotype, and haplotype frequencies of the six SNPs were compared between cases and controls. Odds ratios (OR) and 95% confidence intervals (CI) were calculated in logistic regression models to evaluate the associations of the six SNPs with ESRD risk.Results
The genotype distributions for the six SNPs in controls were consistent with Hardy-Weinberg equilibrium (P > 0.05). Association analysis revealed that three SNPs were significantly associated with ESRD risk. Positive associations with ESRD risk were found for the rs836488, rs702482, and rs702483 in the co-dominant model (minor allele homozygotes versus major allele homozygotes); specifically, the frequencies of the minor allele homozygotes and the minor allele for the three SNPs were higher in the cases than in the controls. In addition, these three SNPs also had associations with increased ESRD risk under the additive model (P < 0.05), and positive associations were also found for the rs836488 in the dominant model (P < 0.05) and for the rs702483 in the recessive model (P < 0.05). All these associations were independent of confounding factors. The other three SNPs (rs10951982, rs6954996, and rs9374), in all comparison models, were not associated with ESRD risk (P > 0.05). In haplotype analysis, carriers with "C-T-G-G-G-G" haplotype had a significantly higher risk of ESRD compared with the most common haplotype "T-A-G-A-G-G" (P = 0.011, OR = 1.46, 95% CI = 1.09–1.94).Conclusion
This study suggested that polymorphisms of RAC1 gene might influence the susceptibility to ESRD in Chinese Han population. Further studies are necessary to confirm our findings. 相似文献16.
Eric Mandrou Paulo Ricardo Gherardi Hein Emilie Villar Philippe Vigneron Christophe Plomion Jean-Marc Gion 《Tree Genetics & Genomes》2012,8(2):353-364
Lignin content and composition are considered as mandatory traits of eucalyptus breeding programs, especially for pulp, paper,
and bioenergy production. In this article, we used 33 Eucalyptus urophylla full-sib families of an 8 × 8 factorial design to provide estimates of genetic parameters for lignin- and growth-related
traits. Secondly, from the sequencing of the 16 unrelated founders, we described the nucleotide and haplotype variability
of cinnamoyl-CoA reductase (CCR), a candidate gene for lignin-related traits encoding the cinnamoyl-CoA reductase. Finally, we tested the association between
CCR polymorphisms and trait variation using a mixed linear model. A high value of narrow sense heritability was obtained for
lignin content (h2 = 0.85) and S/G ratio (h2 = 0.62) indicating that these traits are under strong genetic control. High levels of nucleotide (θπ = 0.0131) and haplotype (Hd = 0.958) diversity were detected for CCR. From an initial set of 152 biallelic single nucleotide polymorphisms (SNPs), a subset of 65 nonredundant loci was selected.
Three intronic SNPs were found to be associated to the variation of S/G ratio after multiple testing correction. In the line
of what has been obtained in forest trees, these SNPs explained between 2.45% and 2.87% of the genetic variance of the trait.
This study demonstrates the interest of the candidate gene approach for quantitative trait nucleotide detection in Eucalyptus and paves the way to gene assisted selection of lignin composition in E. urophylla. 相似文献
17.
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
18.
Polymorphisms in the AKT1 and AKT2 genes and oesophageal squamous cell carcinoma risk in an Eastern Chinese population
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Jing He Meiling Zhu Jiu‐Cun Wang Li Jin Xiao‐Feng Wang Ya‐Jun Yang Jia‐Qing Xiang Qingyi Wei 《Journal of cellular and molecular medicine》2016,20(4):666-677
Ethnic Han Chinese are at high risk of developing oesophageal squamous cell carcinoma (ESCC). Aberrant activation of the AKT signalling pathway is involved in many cancers, including ESCC. Some single nucleotide polymorphisms (SNPs) in genes involved in this pathway may contribute to ESCC susceptibility. We selected five potentially functional SNPs in AKT1 (rs2494750, rs2494752 and rs10138277) and AKT2 (rs7254617 and rs2304186) genes and investigated their associations with ESCC risk in 1117 ESCC cases and 1096 controls in an Eastern Chinese population. None of individual SNPs exhibited an association with ESCC risk. However, the combined analysis of three AKT1 SNPs suggested that individuals carrying one of AKT1 variant genotypes had a decreased ESCC risk [adjusted odds ratio (OR) = 0.60, 95% CI = 0.42–0.87]. Further stratified analysis found that AKT1 rs2294750 SNP was associated with significantly decreased ESCC risk among women (adjusted OR = 0.63, 95% CI = 0.43–0.94) and non‐drinkers (OR = 0.79, 95% CI = 0.64–0.99). Similar protective effects on women (adjusted OR = 0.56, 95% CI = 0.37–0.83) and non‐drinker (adjusted OR = 0.75, 95% CI = 0.60–0.94) were also observed for the combined genotypes of AKT1 SNPs. Consistently, logistic regression analysis indicated significant gene–gene interactions among three AKT1 SNPs (P < 0.015). A three‐AKT1 SNP haplotype (C‐A‐C) showed a significant association with a decreased ESCC risk (adjusted OR = 0.70, 95% CI = 0.52–0.94). Multifactor dimensionality reduction analysis confirmed a high‐order gene–environment interaction in ESCC risk. Overall, we found that three AKT1 SNPs might confer protection against ESCC risk; nevertheless, these effects may be dependent on other risk factors. Our results provided evidence of important gene–environment interplay in ESCC carcinogenesis. 相似文献
19.
Ruiz-Narvaez EA Fraser PA Palmer JR Cupples LA Reich D Wang YA Rioux JD Rosenberg L 《Human genetics》2011,130(6):807-815
The major histocompatibility complex (MHC) on chromosome 6p21 is a key contributor to the genetic basis of systemic lupus
erythematosus (SLE). Although SLE affects African Americans disproportionately compared to European Americans, there has been
no comprehensive analysis of the MHC region in relationship to SLE in African Americans. We conducted a screening of the MHC
region for 1,536 single nucleotide polymorphisms (SNPs) and the deletion of the C4A gene in a SLE case–control study (380 cases, 765 age-matched controls) nested within the prospective Black Women’s Health
Study. We also genotyped 1,509 ancestral informative markers throughout the genome to estimate European ancestry to control
for population stratification due to population admixture. The most strongly associated SNP with SLE was the rs9271366 (odds
ratio, OR = 1.70, p = 5.6 × 10−5) near the HLA-DRB1 gene. Conditional haplotype analysis revealed three other SNPs, rs204890 (OR = 1.86, p = 1.2 × 10−4), rs2071349 (OR = 1.53, p = 1.0 × 10−3), and rs2844580 (OR = 1.43, p = 1.3 × 10−3), to be associated with SLE independent of the rs9271366 SNP. In univariate analysis, the OR for the C4A deletion was 1.38, p = 0.075, but after simultaneous adjustment for the other four SNPs the odds ratio was 1.01, p = 0.98. A genotype score combining the four newly identified SNPs showed an additive risk according to the number of high-risk
alleles (OR = 1.67 per high-risk allele, p < 0.0001). Our strongest signal, the rs9271366 SNP, was also associated with higher risk of SLE in a previous Chinese genome-wide
association study (GWAS). In addition, two SNPs found in a GWAS of European ancestry women were confirmed in our study, indicating
that African Americans share some genetic risk factors for SLE with European and Chinese subjects. In summary, we found four
independent signals in the MHC region associated with risk of SLE in African American women. 相似文献
20.
Zhenyan Fu Hong Yang Yitong Ma Ding Huang Xiang Xie Yingying Zheng Qing Zhu Tomohiro Nakayama 《Gene》2013