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1.
Multiple studies have indicated that SLE incidence exhibits a strong genetic background. We studied the frequency of the natural killer group 2, member D (NKG2D) receptor Thr72Ala (rs2255336) polymorphism in patients with SLE (n = 243) and controls (n = 502) in a sample of the Polish population. The p value for SLE patients with the Thr/Thr genotype was 0.0455 and Odds Ratio
(OR) = 0.3846 (95% CI = 0.1458–1.014). For the Thr/Thr and Ala/Thr genotypes we found p = 0.0135 and OR = 0.6556 (95% CI = 0.4684–0.9177).
The frequency of the NKG2D 72Thr allele in patients and controls was respectively, 15 and 21%, P = 0.0046, OR = 0.6547 (95% CI = 0.4877–0.8789). Our studies may confirm that the NKG2D 72Thr gene variant may protect against the incidence of SLE. 相似文献
2.
The aim of this study was to determine whether the functional mannose-binding lectin (MBL2) exon 1 codon 54 polymorphism (rs1800450) confers susceptibility to systemic lupus erythematosus (SLE) in ethnically different
populations. A meta-analysis was conducted on the MBL2 codon 54 polymorphism across 21 comparative studies. Meta-analysis showed an association between the MBL2 codon 54 B allele and SLE in all study subjects [odds ratio (OR) = 1.298, 95% confidence interval (CI) = 1.154–1.459, P = 1.4 × 10−5]. Analysis after stratification by ethnicity indicated that the MBL2 codon 54 B allele is significantly associated with SLE in Europeans, Asian, and Africans (OR = 1.246, 95% CI = 1.062–1.462,
P = 0.007; OR = 1.268, 95% CI = 1.049–1.532, P = 0.014; OR = 1.939, 95% CI = 1.269–2.962, P = 0.002, respectively). However, African Americans had a much lower prevalence of the T allele (5.8%) than any other populations
studied, whereas Asians had the highest prevalence (16.2%). This meta-analysis confirms that the MBL2 codon 54 polymorphism is associated with SLE susceptibility in different ethnic groups, and that its prevalence is ethnicity
dependent. 相似文献
3.
Tumor necrosis factor alpha (TNF-α) is a vital cytokine involved in inflammation, immunity, and cellular organization. The
TNFA-308G/A (rs1800629) and -238G/A (rs361525) polymorphisms are two widely investigated variants for their associations with
risk of cervical cancer, but the results are conflicting. Here, we performed a meta-analysis to pool the data and evaluate
the between-studies heterogeneity. All the case–control studies published from January 1989 to October 2010 on the association
between the two polymorphisms of TNFA and cervical cancer risk were identified by searching the electronic literature Medline. The cervical cancer risk associated
with the two polymorphisms of TNFA gene was estimated for each study by OR together with its 95% CI, respectively, by using the Review Manager 4.2 software. It was showed that the variant homozygote
-308AA was associated with a significantly increased risk of cervical cancer (AA vs. GG: OR = 1.41, 95% CI = 1.03–1.92, P = 0.033; AA vs. GA/GG: OR = 1.39, 95% CI = 1.02–1.90, P = 0.036), and the effect was more evident among Asians (AA vs. GA/GG: OR = 3.67, 95% CI = 1.25–10.81, P = 0.018). We also found that the variant genotypes -238GA/AA was associated with a significantly decreased risk of cervical
cancer (GA/AA vs. GG: OR = 0.55, 95% CI = 0.41–0.74, P < 0.001). The results suggested that TNFA-308G/A and -238G/A may contribute to cervical cancer susceptibility. 相似文献
4.
Hui Fang Chen Ting Ting HuXue Yan Zheng Mei Qing LiMin Hong Luo Yue Xian YaoQing Chen Shou Yi Yu 《Gene》2013
Published data on the rs2910164 in microRNA-146a (miR-146a) are shown to be associated with increased or decreased autoimmune diseases risk. To derive a more precise estimation of the relationship, we performed a meta-analysis to systematically summarize the possible. A meta-analysis including 11 studies with 3042 controls and 2197 cases was performed for genotypes CC (recessive effect), CC + CG (dominant effect) and C allele in fixed or random-effects models based on between-study heterogeneity. Overall, no significant association between miR-146a G/C rs2910164 polymorphism and autoimmune diseases risk was found in all genetic models when all studies were pooled into the meta-analysis. SLE (OR = 0.99, 95% CI: 0.90–1.10), RA (OR = 0.98, 95% CI: 0.85–1.14) did not yield statistical significance as for C allele pooled studies. In the subgroup analysis by ethnicity, still no significant association was detected in all genetic models. Our meta-analysis suggests that there is no association between miR-146a G/C rs2910164 polymorphism and the development of autoimmune diseases. 相似文献
5.
6.
The aim of our meta-analysis was to quantitatively summarize the association of TYK2 gene polymorphisms with autoimmune and
inflammatory diseases. 11 studies that included data from 21497 cases and 22647 controls were identified. OR was used as a
measure of the effect of the association in a fixed/random effect model. Meta-analysis was performed for six TYK2 gene polymorphisms
(rs34536443, rs2304256, rs280523, rs280519, rs12720270 and rs12720356). Significant association was found in rs34536443 (C
versus G: OR = 0.76, 95% CI = 0.69–0.84, P < 0.00001; GC + CC versus GG: OR = 0.78, 95% CI = 0.68–0.90, P = 0.0005; CC versus GG + GC: OR = 0.76, 95% CI = 0.28–2.05, P = 0.58; CC versus GG: OR = 0.74, 95% CI = 0.27–2.02, P = 0.56; GC versus GG: OR = 0.78, 95% CI = 0.68–0.90, P = 0.0006) and rs2304256 (A versus C: OR = 0.78, 95% CI = 0.70–0.87, P < 0.0001; CA + AA versus CC: OR = 0.69, 95% CI = 0.59–0.81, P < 0.0001; AA versus CC + CA: OR = 0.75, 95% CI = 0.66–1.00, P = 0.05; AA versus CC: OR = 0.64, 95% CI = 0.47–0.86, P = 0.003; CA versus CC: OR = 0.70, 95% CI = 0.60–0.83, P < 0.0001) in TYK2 gene, but not for the other polymorphisms (rs280523, rs280519, rs12720270, and rs12720356). This meta-analysis
demonstrates that autoimmune and inflammatory diseases is associated with TYK2 gene rs34536443 and rs2304256 polymorphisms,
but not rs280523, rs280519, rs12720270 and rs12720356. 相似文献
7.
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
8.
Ignacio F. San Francisco Pablo A. Rojas Verónica Torres‐Estay Susan Smalley Javier Cerda‐Infante Viviana P. Montecinos Claudia Hurtado Alejandro S. Godoy 《Journal of cellular and molecular medicine》2014,18(1):125-133
To study the association between the polymorphisms Arg462Gln and Asp541Glu from the RNASEL gene (1q25), and the polymorphisms rs620861, rs1447295, rs6983267, rs7837328 from the chromosome 8q24 with the risk of presenting prostate cancer (PCa) and its clinical characteristics in a Hispanic (Chilean) population. The study was performed on 21 control patients and 83 patients diagnosed with PCa. Polymorphisms were analysed from blood samples through real‐time PCR by using TaqMan probes, and the genetic analysis was performed with the SNPStats program. Also, a comparison was performed between clinical characteristics of PCa and the presence of the different polymorphism genotypes by using the Minitab software. There was a significant association between the genotype G/G from the polymorphism rs6983267 with an overall increased risk of PCa, in patients both with or without family history of PCa (OR = 4.47, 95% CI = 1.05–18.94, P = 0.034 and OR = 3.57, 95% CI = 0.96–13.35, P = 0.037, respectively). Regarding clinical parameters, patients carrying the genotype C/C from the polymorphism Asp541Glu had significantly higher prostate‐specific antigen (PSA) levels than patients carrying the other genotypes (P = 0.034). Moreover, patients with the genotype G/G of rs6983267 had higher PSA levels (P = 0.024). The polymorphism rs6983267 from region 3 of the chromosome 8q24 appears to be a prominent risk factor for PCa and a biomarker for cancer aggressiveness in the group of patients who presented higher levels of PSA at the time of diagnosis. 相似文献
9.
Teresa Warchoł Margarita Lianeri Jan K. Łącki Paweł P. Jagodziński 《Molecular biology reports》2010,37(7):3121-3125
It has been reported that stromal cell-derived factor-1 (SDF1), currently also designated CXCL12, plays a significant role
in the development of nephritis and death in the lupus mice model. Using restriction length fragment polymorphism (RFLP) analysis
we assessed the frequencies of SDF1-3′ G801A (rs 1801157) polymorphic variants between systemic lupus erythematosus (SLE) patients (n = 150) and controls (n = 300). There were no significant differences in the prevalence of SDF1-3′ G801A polymorphic variants in SLE patients and healthy individuals. However, we observed that the SDF1-3′ A/A and G/A genotypes (recessive model) contributed to renal manifestations of SLE OR = 3.042 (95% CI = 1.527–6.058, P = 0.002), and the p value stayed statistically significant after Bonferroni correction (p
corr = 0.032) in SLE patients. We also found an association of the SDF1-3′ A/A and G/A genotypes (recessive model) with dermal manifestations of SLE OR = 2.510 (95% CI = 1.247–5.052, P = 0.0122), (p
corr = 0.1952) but this did not remain statistically significant after Bonferroni correction. Our observations suggest that the
SDF1-3′ G801A genotype may be associated with some clinical manifestations in patients with SLE. 相似文献
10.
Ziping Chen Chuanzhen Zhang Changqing Xu Kun Li Ruiping Hou Danping Li Xiaoli Cheng 《Molecular biology reports》2011,38(3):1507-1513
DNA repair capacity (DRC) can be altered based on sequence variations in DNA repair genes, which may result in cancer susceptibility.
The current study was to evaluate the association between genetic polymorphisms, including associated haplotypes of xeroderma
pigmentosum complementary group D (XPD), and individual susceptibility to gastric cancer. Two-hundred-eight patients with
gastric cancer and 339 healthy controls were enrolled in this study. Their genomic DNA was extracted from peripheral blood
leukocytes. The genotypes at exon 6, 10 and 23 were identified by polymerase chain reaction (PCR). Unconditional logistic
regression model was used to analyze the effects of the polymorphisms, including the corresponding haplotypes, on the susceptibility
to develop gastric cancer. The proportion of genotypes GA or AA at exon 10 in cases was showed to be significantly higher
than that in controls (P < 0.01, P < 0.01, respectively). The risk of genotype GA or AA carriers to develop gastric cancer was simultaneously much higher (OR = 3.38,
95% CI 2.30–4.95; OR = 6.13, 95% CI 2.45–15.31, respectively). The allele A at exon 10 was also observed to manifest a substantially
higher frequency in cases compared to controls (P < 0.01), which might indicate an increased tendency to gastric cancer (OR = 2.40, 95% CI 1.81–3.17). No significant differences
were found in the distribution of genotypes at exon 6 or 23 between the two groups (P = 0.23, P = 0.52; P = 0.44, P = 0.56, respectively). By haplotype analysis, haplotype AAA could individually increase incidence of gastric cancer (P < 0.01, OR = 3.39, 95% CI 2.21–5.21). In contrast, haplotypes CGA and AGA were showed a decline in gastric cancer susceptibility
(OR = 0.67, 95% CI 0.46–0.97; OR = 0.58, 95% CI 0.41–0.83, respectively). The rest of haplotypes made no statistically significant
difference between cases and controls. Taken together, this study demonstrates that the genetic variation at exon 10 and haplotype
AAA may be contributing factors in developing gastric cancer. 相似文献
11.
Helicobacter pylori infection reduces the risk of Barrett's esophagus: A meta‐analysis and systematic review
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Bálint Erőss Nelli Farkas Áron Vincze Benedek Tinusz László Szapáry András Garami Márta Balaskó Patrícia Sarlós László Czopf Hussain Alizadeh Zoltán Rakonczay Jr Tamás Habon Péter Hegyi 《Helicobacter》2018,23(4)
Introduction
The prevalence of Helicobacter pylori infection (HPI) has been decreasing in developed countries, with an increasing prevalence of Barrett's esophagus (BE) and esophageal adenocarcinoma (EAC) at the same time. The aim of our meta‐analysis was to quantify the risk of BE in the context of HPI.Methods
A systematic search was conducted in 3 databases for studies on BE with data on prevalence of HPI from inception until December 2016. Odds ratios for BE in HPI were calculated by the random effects model with subgroup analyses for geographical location, presence of dysplasia in BE, and length of the BE segment.Results
Seventy‐two studies were included in the meta‐analysis, including 84 717 BE cases and 390 749 controls. The overall analysis showed that HPI reduces the risk of BE; OR = 0.68 (95% CI: 0.58‐0.79, P < .001). Subgroup analyses revealed risk reduction in Asia OR = 0.53 (95% CI: 0.33‐0.84, P = .007), Australia OR = 0.56 (95% CI: 0.39‐0.80, P = .002), Europe OR = 0.77 (95% CI: 0.60‐0.98, P = .035), and North‐America OR = 0.59 (95% CI: 0.47‐0.74, P < .001). The risk was significantly reduced for dysplastic BE, OR = 0.37 (95% CI: 0.26‐0.51, P < .001) for non‐dysplastic BE, OR = 0.51 (95% CI: 0.35‐0.75, P = .001), and for long segment BE, OR = 0.25 (95% CI: 0.11‐0.59, P = .001) in case of HPI.Conclusions
This extensive meta‐analysis provides additional evidence that HPI is associated with reduced risk of BE. Subgroup analyses confirmed that this risk reduction is independent of geographical location. HPI is associated with significantly lower risk of dysplastic, non‐dysplastic, and long segment BE. 相似文献12.
Rui‐Xi Hua Zhenjian Zhuo Lili Ge Jinhong Zhu Li Yuan Chongfen Chen Jing Liu Jiwen Cheng Haixia Zhou Jiao Zhang Huimin Xia Xianwei Zhang Jing He 《Journal of cellular and molecular medicine》2020,24(1):1059-1066
Neuroblastoma ranks the most common seen solid tumour in childhood. Overexpression of LIN28A gene has been linked to the development of multiple human malignancies, but the relationship between LIN28A single nucleotide polymorphisms (SNPs) and neuroblastoma susceptibility is still under debate. Herein, we evaluated the correlation of four potentially functional LIN28A SNPs (rs3811464 G>A, rs3811463 T>C, rs34787247 G>A, and rs11247957 G>A) and neuroblastoma susceptibility in 505 neuroblastoma patients and 1070 controls from four independent hospitals in China. The correlation strengths were determined by using odds ratios (ORs) and corresponding 95% confidence intervals (CIs). Among these SNPs, rs34787247 G>A exhibited a significant association with increased susceptibility in neuroblastoma (GA vs GG: adjusted OR = 1.30, 95% CI = 1.03‐1.64; AA vs GG: adjusted OR = 2.51, 95% CI = 1.36‐4.64, AA/GA vs GG: adjusted OR = 1.42, 95% CI = 1.12‐1.80, AA vs GG/GA: adjusted OR = 2.39, 95% CI = 1.29‐4.42). Furthermore, the combined analysis of risk genotypes revealed that subjects carrying three risk genotypes (adjusted OR = 1.64, 95% CI = 1.02‐2.63) are more inclined to develop neuroblastoma than those without risk genotype, and so do carriers of 1‐4 risk genotypes (adjusted OR = 1.26, 95% CI = 1.01‐1.56). Stratification analysis further revealed risk effect of rs3811464 G>A, rs34787247 G>A and 1‐4 risk genotypes in some subgroups. Haplotype analysis of these four SNPs yields two haplotypes significantly correlated with increased neuroblastoma susceptibility. Overall, our finding indicated that LIN28A SNPs, especially rs34787247 G>A, may increase neuroblastoma risk. 相似文献
13.
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
14.
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
15.
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
16.
Kordi-Tamandani DM Hashemi M Sharifi N Kaykhaei MA Torkamanzehi A 《Molecular biology reports》2012,39(2):937-943
Paraoxonase-1 (PON1), a high-density lipoprotein (HDL) associated enzyme, is involved in the metabolism and detoxification
of insecticides and pesticides. Three polymorphisms within the PON1 gene affect the enzyme activity. Two of these (L55M and Q192R) are located at the coding region and the third (–107C/T) is
in promoter region. We performed a case–control study in order to elucidate the possible contribution of variability within
PON1 at three mentioned positions to the risk of MS in a South-East Iranian population. DNA was isolated from peripheral blood
of patients (N = 119) with MS and healthy controls (N = 201). Allelic polymorphisms at positions Q192R, L55M and –107C/T in the PON1 gene were studied by Amplification Refractory Mutation System (ARMS)-PCR. It was observed that genotypes RR and QR + RR of Q192R locus significantly increased the risk of MS (OR = 2; 95% CI: 1.17–3.40, P = 0.0001 and OR = 1.62; 95% CI: 1.0–2.63; P = 0.05, respectively). The risk in patients with MM and LM + MM genotypes at the L55M locus was marginal (OR = 1.33; 95% CI: 0.68–1.85; P = 0.34 and OR = 1.12; 95% CI: 0.68–1.85; P = 0.73 respectively). The CC genotype at –107C/T locus also increased the risk of metabolic syndrome, but was not significant.
This association was somewhat stronger when combined genotypes at Q192R and L55M loci were analyzed (OR = 3.30; 95% CI: 1.34–8.24;
P = 0.007). Our results, in this first study, provide evidence for association of PON1 gene polymorphisms with the risk for metabolic syndrome. 相似文献
17.
18.
Xiao‐Xia Pang Shun‐Da Luo Ting Zhang Feng Shi Chun‐Fang Wang Xing‐Hong Chen Yu‐Xia Wei Li Qin Jing‐Xi Wei Xiao‐Qiong Luo Jun‐Li Wang 《Journal of cellular and molecular medicine》2019,23(4):2410-2418
Interleukin‐27 (IL‐27) gene polymorphisms are linked to infectious disease susceptibility and IL‐27 plasma level is associated with HIV infection. Therefore, we aimed to investigate the association between IL‐27 polymorphisms and susceptibility to HIV infection and disease progression. A total of 300 patients with HIV infection (48 long‐term nonprogressors and 252 typical progressors) and 300 healthy controls were genotyped for three IL‐27 polymorphisms, rs17855750, rs181206, rs40837 which were performed by using multiple single nucleotide primer extension technique. Significant association was found between IL‐27 rs40837 polymorphisms with susceptibility to HIV infection (AG vs AA: adjusted OR = 1.60, 95% CI, 1.11‐2.30, P = 0.012; AG+GG vs AA: adjusted OR = 1.44, 95% CI, 1.02‐2.03, P = 0.038) and disease progression (LTNP: AG vs AA: adjusted OR = 2.33, 95% CI, 1.13‐4.80, P = 0.021; TP: AG vs AA: adjusted OR = 1.50, 95% CI, 1.04‐2.24, P = 0.030). Serum IL‐27 levels were significantly lower in cases compared to controls (P < 0.001). There were lower serum IL‐27 levels in TPs than in LTNPs (P < 0.001). We further found that LTNPs with rs40837 AG or GG genotype had lower serum IL‐27 levels than with AA genotype (P < 0.05). The CD4+T counts in cases were significantly lower than controls (P < 0.001). In contrast, individuals with rs40837 AG genotype had lower CD4+T counts than with AA genotype in cases (P < 0.05). In addition, CD4+T counts in TPs were significantly lower than LTNPs (P < 0.001). IL‐27 rs40837 polymorphism might influence the susceptibility to HIV infection and disease progression probably by regulating the level of serum IL‐27 or the quantity of CD4+T. 相似文献
19.
Cyclin-dependent kinase inhibitor-2A/B (CDKN2A/B) has been reported as a candidate gene of type 2 diabetes (T2D) based on its chromosomal position and its important role
in β-cell function and regeneration. However, studies to date have reported inconsistent findings regarding the association
between T2D and CDKN2A/B. To clarify this inconsistence, we conducted a meta-analysis based on alleles and genotypes prevalence of rs10811661 and
rs564398 in CDKN2A/B. The PubMed, EMBASE, and Medline databases were systematically reviewed for studies published between January, 2006, and
November, 2010. A total of 35 reports were collected, among of them only 16 studies (including 24,407 cases and 33,937 controls)
match the inclusion criteria and were selected for the statistical test. In the meta-analysis of published data, our results
suggest that the rs10811661 T allele (OR 1.28, 95% CI 1.21–1.36, P < 1 × 10−5) and TT genotype (OR 1.32, 95% CI 1.22–1.43, P < 1 × 10−5) of CDKN2A/B were associated with type 2 diabetes respectively, but rs564398 was not (for allele only: OR 0.96, 95% CI 0.88–1.05, P = 0.35). The association between rs10811661 T allele and T2D was observed both in Asia (P < 1 × 10−4) and Europe ethnicity groups (P = 0.002). This meta-analysis yielded evidence that rs10811661 of CDKN2A/B confers risk for T2D. Larger studies with mixed ethnicity subjects are required to validate our findings. 相似文献
20.
Aonan Zhao Yuanyuan Li Mengyue Niu Guanglu Li Ningdi Luo Liche Zhou Wenyan Kang Jun Liu 《Journal of cellular and molecular medicine》2020,24(15):8744-8752
Numerous single nucleotide polymorphisms (SNPs), which have been identified as susceptibility factors for Parkinson's disease (PD) as per genome‐wide association studies, have not been fully characterized for PD patients in China. This study aimed to replicate the relationship between 12 novel SNPs of 12 genes and PD risk in southern Chinese population. Twelve SNPs of 12 genes were detected in 231 PD patients and 249 controls, using the SNaPshot technique. Meta‐analysis was used to assess heterogeneity of effect sizes between this study and published data. The impact of SNPs on gene expression was investigated by analysing the SNP‐gene association in the expression quantitative trait loci (eQTL) data sets. rs8180209 of SNCA (allele model: P = .047, OR = 0.77; additive model: P = .047, OR = 0.77), rs2270968 of MCCC1 (dominant model: P = .024, OR = 1.52), rs7479949 of DLG2 (recessive model; P = .019, OR = 1.52), rs10748818 of GBF1 (additive model: P < .001, OR = 0.37), and rs4771268 of MBNL2 (recessive model: P = .003, OR = 0.48) were replicated to be significantly associated with the increased risk of PD. Noteworthy, a meta‐analysis of previous studies suggested rs8180209, rs2270968, rs7479949 and rs4771268 were in line with those of our cohort. Our study replicated five novel functional SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 could be associated with increased risk of PD in southern Chinese population. 相似文献