The Nonsynonymous Single-Nucleotide Polymorphisms in Codon 31 of p21 Gene and the Susceptibility to Cervical Cancer in Chinese Women

2009 ◽  
Vol 19 (6) ◽  
pp. 1011-1014 ◽  
Author(s):  
Qifang Tian ◽  
Weiguo Lu ◽  
Huaizeng Chen ◽  
Feng Ye ◽  
Xing Xie

Background:It was suggested that single-nucleotide polymorphisms in p21 codon 31 seem to be associated with a variety of human malignancies; very few studies have focused on the association between p21 codon 31 polymorphisms and cervical cancer. This study explored whether p21 codon 31 nonsynonymous single-nucleotide polymorphisms might be associated with an increased risk of cervical cancer development among Chinese women.Methods:Peripheral blood samples were obtained from patients with cervical cancer (n = 317) and healthy controls (n = 353) for detecting the biallelic polymorphisms at codon 31 of p21 gene by the mismatch amplification mutation assay-polymerase chain reaction. Cervix brush-off samples were obtained from patients with cervical squamous cell carcinoma (SCC) and controls for detection of high-risk human papillomavirus (HR-HPV).Results:The AGA (Arg) allele frequency in patients with cervical SCCs was significantly higher than that in controls. AGA/AGA and AGA/AGC genotypes were more frequently found in cervical SCCs than in controls. There was no significant difference of allele frequency or genotype distribution between cervical adenocarcinomas and controls, or between HR-HPV-positive and HR-HPV-negative groups.Conclusions:p21 Codon 31 with AGA (Arg) allele is a genetic risk factor of cervical SCC, and the increased risk is probably not caused by increasing host susceptibility to HR-HPV infection.

PeerJ ◽  
2020 ◽  
Vol 8 ◽  
pp. e8521
Author(s):  
Yingli Fu ◽  
Na Zhou ◽  
Wei Bai ◽  
Yaoyao Sun ◽  
Xin Chen ◽  
...  

Background Schizophrenia (SCZ) is a severely complex psychiatric disorder in which ~80% can be explained by genetic factors. Single nucleotide polymorphisms (SNPs) in calcium channel genes are potential genetic risk factors for a spectrum of psychiatric disorders including SCZ. This study evaluated the association between SNPs in the voltage-gated calcium channel auxiliary subunit alpha2delta 2 gene (CACNA2D2) and SCZ in the Han Chinese population of Northeast China. Methods A total of 761 SCZ patients and 775 healthy controls were involved in this case-control study. Three SNPs (rs3806706, rs45536634 and rs12496815) of CACNA2D2 were genotyped by the MALDI-TOF-MS technology. Genotype distribution and allele frequency differences between cases and controls were tested by Chi-square (χ2) in males and females respectively using SPSS 24.0 software. Linkage disequilibrium and haplotype analyses were conducted using Haploview4.2. The false discovery rate correction was utilized to control for Type I error by R3.2.3. Results There was a significant difference in allele frequencies (χ2 = 9.545, Padj = 0.006) and genotype distributions (χ2 = 9.275, Padj = 0.006) of rs45536634 between female SCZ patients and female healthy controls after adjusting for multiple comparisons. Minor allele A (OR = 1.871, 95% CI [1.251–2.798]) and genotype GA + AA (OR = 1.931, 95% CI [1.259–2.963]) were associated with an increased risk of SCZ. Subjects with haplotype AG consisting of rs45536634 and rs12496815 alleles had a higher risk of SCZ (OR = 1.91, 95% CI [1.26–2.90]) compared those with other haplotypes. Conclusions This study provides evidence that CACNA2D2 polymorphisms may influence the susceptibility to SCZ in Han Chinese women.


2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Ricardo M. Cerda-Flores ◽  
Karen Paola Camarillo-Cárdenas ◽  
Gabriela Gutiérrez-Orozco ◽  
Mónica Patricia Villarreal-Vela ◽  
Raquel Garza-Guajardo ◽  
...  

Abstract Background Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if they show an association with it. Methods DNA samples from 397 patients and 355 controls were tested for the ADIPOQ gene SNPs: rs2241766 (GT) and rs1501299 (GT) by TaqMan allelic discrimination assay. Hardy–Weinberg equilibrium (HWE) was tested. Multiple SNP inheritance models adjusted by age and body mass index (BMI) were examined for the SNP rs1501299. Results We found that in the frequency analysis of rs1501299 without adjusting the BMI and age, the genotype distribution had a statistically significant difference (P = 0.003). The T allele was associated with a BC risk (OR, 1.99; 95% CI 1.13–3.51, TT vs. GG; OR, 1.53; 95% CI 1.12–2.09, GT vs. GG). The SNP rs2241766 was in HW disequilibrium in controls. In conclusion, the rs1501299 polymorphism is associated with a BC risk. Conclusions Identification of the genotype of these polymorphisms in patients with BC can contribute to integrate the risk profile in both patients and their relatives as part of a comprehensive approach and increasingly more personalized medicine.


2021 ◽  
Author(s):  
roba talaat ◽  
Samar M. Shahen ◽  
Soha Z. Elshenawy ◽  
Salwa E. Mohamed

Abstract MicroRNAs (miRNAs) and Long non-coding RNAs (lncRNAs) are two major types of non-coding RNAs (ncRNAs) with regulatory roles. Genetic variation in the miRNAs and lncRNAs has been involved in the initiation and progression of many diseases. miRNA-LncRNA interactions are implicated in the regulation of many diseases, such as hepatitis infection. In this study, we assumed that single nucleotide polymorphisms (SNPs) in miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) might participate in HBV infection risk. SNPs rs28461391 in miR-372 and rs7763881 in HULC were genotyped in 100 HBV patients and 100 healthy controls using the Polymerase chain reaction sequence-specific primer technique (PCR-SSP). Our results showed no significant difference in miR-372 rs12983273 genotype distribution between both controls and HBV patients. On the other hand, there was a significant increase in HULC rs7763881 CC genotype (P<0.05) coincides with a significant decrease in AC genotype distribution (P<0.05) in HBV patients as compared to controls. Our results showed that the CC genotype is associated with an increased risk of HBV infection (OR= 3.43; CI: 1.3-9.07) while AA genotype is a protective one (OR= 0.3; CI: 0.13-9.07). Our results suggest that HULC rs7763881 A/C might be a biomarker for HBV susceptibility. However, larger sample studies are recommended to verify our preliminary data. To the best of our knowledge, the present study was the first to investigate the relevance of miR-372 (rs28461391 C/T) and HULC (rs7763881 A/C) gene polymorphisms to the risk of HBV infection in the Egyptian population.


2021 ◽  
Vol 21 ◽  
Author(s):  
Amal A. Mohamed ◽  
Aymen S. Yassin ◽  
Basma S. Gomaa ◽  
Hossam Darwish ◽  
Rasha S. Mohamed ◽  
...  

Background: This study aims to investigate the relation between Survivin gene polymorphisms, and the risk of Hepatocellular carcinoma (HCC) resulting from hepatitis C infection among Egyptian population. Methods: This prospective study was conducted on 164 patients, 57 patients were diagnosed with hepatitis C, where other 57 were diagnosed with HCC in addition to 50 healthy volunteers as controls. Genotyping for Survivin rs1042489 and rs8073069 single nucleotide polymorphisms was carried out by the allelic discrimination Real-Time Polymerase Chain Reaction Single Nucleotide Polymorphisms genotyping technology. Results: The results of Survivin rs1042489 polymorphism, revealed that the TC and CC genotypes were significantly different between hepatocellular carcinoma patients (OR=15.5, 95%CI: 3.299-72.825,P<0.001), and controls (OR=44, 95%CI: 8.025-241.254, P<0.001). Furthermore, CC genotype was significantly different between cirrhotic and hepatocellular carcinoma patients (OR=19.2, 95%CI: 3.097-119.049, P=0.002). Moreover the TC genotype shows a significant different between controls and cirrhotic patients (OR=5.5, 95%CI: 2.111-14.328, P<0.001). However when comparing TT genotypes, CC+TC genotypes results showed a significant association with increasing the risk of cirrhosis and hepatocellular carcinoma (OR=4.812, 95%CI: 1.893-12.233, P=0.001), (OR=21.607, 95%CI: 4.738-98.532, P<0.01), respectively. On the other hand, there was no significant difference among all studied groups for all genotypes, regarding Survivin rs8073069. Also CC+GC genotype showed no significant association with increased the risk of hepatocellular carcinoma (P=0.999) compared with the GG genotypes. Conclusion: The study indicates that functional Survivin rs1042489 polymorphism may contribute to the risk of hepatocellular carcinoma while Survivin rs8073069 polymorphism has no significant association with increased risk of hepatocellular carcinoma among the studied groups.


Reproduction ◽  
2007 ◽  
Vol 134 (2) ◽  
pp. 373-378 ◽  
Author(s):  
Kang Shan ◽  
Ma Xiao-Wei ◽  
Wang Na ◽  
Zhang Xiu-Feng ◽  
Wen Deng-Gui ◽  
...  

Endometriosis, one of the most frequent diseases in gynecology, is a benign but invasive and metastatic disease. The altered expression of E-cadherin may play an important role in developing endometriosis. In this paper, we discuss the association of three single nucleotide polymorphisms (SNPs) on the E-cadherin gene and risk of endometriosis. We examined the genotype frequency of three polymorphisms in 152 endometriosis patients and 189 control women. There was a significant difference in the frequency of the E-cadherin 3′-UTR C → T genotypes between endometriosis and controls (P = 0.01). The frequency of the C allele in patients (71.1%) was significantly higher than in the controls (63.8%; P = 0.04). When compared with the T/T + T/C genotypes, the C/C genotype had a significantly increased susceptibility to endometriosis, with an adjusted odds ratio of 1.79 (95% confidence interval = 1.17–2.76). No significant difference was found between endometriosis and control women on two polymorphisms (−160 C → A, −347 G → GA) at the gene promoter region of E-cadherin. The −160 C → A and −347 G → GA polymorphisms displayed linkage disequilibrium (D′ = 0.999). The −160 A/−347 GA haplotype was only detected in endometriosis patients (2%). These data show a relation between the E-cadherin 3′-UTR C → T polymorphism, the −160 A/−347 GA haplotype of two promoter polymorphisms and risk of endometriosis, suggesting a potential role in endometriosis development, at least in North Chinese women.


2017 ◽  
Vol 27 (6) ◽  
pp. 533-542 ◽  
Author(s):  
João Paulo Limongi França Guilherme ◽  
Antonio Herbert Lancha

Carnosine (β-alanyl-L-histidine), abundantly found in skeletal muscle, plays an important role during exercise, especially for high-intensity contractions. Variability in muscle carnosine content between individuals exists and may also be explained by different genetic bases, although no study has addressed the association of polymorphisms in genes related to carnosine metabolism in athletes. This study aimed to investigate the frequency of single nucleotide polymorphisms (SNPs) in the carnosinase genes (CNDP1 and CNDP2) in a large Brazilian cohort of athletes and nonathletes. Eight SNPs were compared between a representative cohort of elite athletes from Brazil (n = 908) and a paired group of nonathletes (n = 967). The athletes were stratified into three groups: endurance (n = 328), power (n = 415), and combat (n = 165). The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes. Carriers of the minor allele had an increased odds ratio of being a power athlete. For the rs2346061, no significant difference was observed in genotype frequencies between power and combat sports athletes, but for rs2887 the power and combat groups showed an inverse genotype distribution. In conclusion, we found that minor alleles carriers for CNDP2 rs3764509 (G-allele), CNDP2-CNDP1 rs2346061 (C-allele), and CNDP1 rs2887 (A-allele) are more likely to be a power athlete. These polymorphisms may be novel genetic markers for power athletes. Furthermore, these results are suggestive of a distinct CNDP genotype for sporting development.


2019 ◽  
Vol 21 (4) ◽  
pp. 175-180
Author(s):  
Samaneh Salehi ◽  
Modjtaba Emadi-Baygi ◽  
Parvaneh Nikpour ◽  
Roya Kelishadi

Background and aims: The APOA5 gene is one of the genes involved in metabolic syndrome (MetS), as a constellation of several cardiovascular disease (CVD) risk factors. The present study evaluated the possible associations between five single nucleotide polymorphisms (SNPs) in the microRNA target site (miR-TS-SNPs) of the APOA5 gene with MetS. Methods: This case-control study included 57 MetS cases, along with 59 normal children and adolescents aged 9-18 years. All miR-TSSNPs rs188133936, rs72525532, rs45596738, rs148759216, and rs114627122 were genotyped by polymerase chain reaction-sequencing. Independent t-test, as well as the chi-square test and logistic regression analysis was used to determine the association of SNPs with MetS risk and its clinical components. Results: The mean (SD) age of MetS participants and controls was 12.35 (0.25) and 13.39 (0.38) years, respectively. Although no nucleotide changes were present in rs188133936, rs45596738, rs148759216, and rs114627122, a greater frequency of A insertion was detected in rs72525532 in MetS cases compared with the control group (P=0.012). This variant showed a significant difference in triglycerides (TG) and high-density lipoprotein cholesterol (HDL) levels between different genotype groups (P<0.0001 and P=0.05, respectively) in controls. Furthermore, AA insertion genotype was correlated with an increased risk of MetS (Odds ratio [95% CI] = 8.12 [0.966-68.27], P=0.05). Conclusion: This study was the first to investigate the association between rs188133936, rs45596738, rs148759216, rs76463524, and rs72525532 variants of the APOA5 gene and MetS. Our findings reveal that rs72525532 might have an impact on TG, HDL levels, and the risk of MetS


2019 ◽  
Vol 16 (4) ◽  
pp. 335-339
Author(s):  
Ji Xu ◽  
Huitao Li ◽  
Jinjie Huang ◽  
Zhangxing Wang ◽  
Yun Li ◽  
...  

Background: Single Nucleotide Polymorphisms (SNPs) in the Erythropoietin (EPO) promoter region have been shown to influence EPO protein expression, and high blood levels of EPO are associated with an increased risk of brain injury in very preterm infants. Here, we investigated the genotype distributions and association of three EPO gene polymorphisms (rs1617640, rs551238, and rs507392) with the risk of brain injury in preterm infants. Methods: 304 preterm infants with a gestational age of 28 to 34 weeks were enrolled in this study. Brain injury was evaluated by brain ultrasound and MRI examination. EPO gene Single- Nucleotide Polymorphisms (SNPs) were genotyped by the Agena MassARRAY system, and their association with brain injury susceptibility in preterm infants was analyzed. Results: EPO polymorphism rs551238 showed a significant difference in the genotypic distributions between the brain injury group and the control group, and was significantly correlated with reduced susceptibility to brain injury in preterm infants according to the results obtained from both the additive model (OR = 0.520, 95% CI: 0.339-0.799, P = 0.003) and the dominant model (OR = 0.523, 95% CI: 0.332-0.853, P = 0.009). EPO polymorphisms rs1617640 and rs507392 did not meet the Hardy-Weinberg equilibrium in the study population (P < 0.05) and were, thus, not subjected to further analysis for their impacts on brain injuries. Conclusion: The “C” allele of rs551238 was correlated with a reduced risk of brain injury in preterm infants which may serve as a potential marker for brain injury prediction in preterm infants.


2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1306.1-1306
Author(s):  
M. Calderón-Goercke ◽  
J. G. Ocejo-Vinyals ◽  
J. Irure-Ventura ◽  
M. Gutiérrez-Larrañaga ◽  
M. A. González-Gay ◽  
...  

Background:Hidradenitis suppurativa (HS) is a chronic, relapsing inflammatory cutaneous disease affecting terminal hair follicles in apocrine-gland bearing skin. The pathogenesis of HS is still unknown, although increasing evidence suggests that the immune system plays an important role. In order to study the role of innate immunity we analyzed several Toll Like Receptors (TLRs) functional single nucleotide polymorphisms (SNPs). To date, only one previous study focused about the role of TLR4 SNPs in HS showing no association with this disease.Objectives:The main goal of this study was to analyze the role of several TLRs functional SNPs in HS patients and healthy controls, in a Caucasian population from Cantabria (northern Spain).Methods:Through a case-control study, we analyzed the allele and genotype distribution of the SNPs in 106 patients with HS and 278 age and sex matched healthy control subjects for the following SNPs (TLR1 rs5743611 and rs4833095, TLR2 rs5743704 and rs5743708, TLR6 rs5743810, and TLR10 rs11096955, rs11096957 and rs4129009, by Real-Time PCR using a TaqMan assay.Results:We did not find any significant difference in the allelic distribution of the different SNPs between HS patients and controls. Regarding genotypes, only TLR10 rs11096955 (dominant, codominant and overdominant), rs11096957 (dominant, codominant and overdominant) and rs4129009 (codominant and overdominant) showed significant differences between HS patients and controls. However, no association was found when we analyzed the different TLR10 haplotypes.Conclusion:To the best of our knowledge, this is the first study showing an association of TLR10 SNPs with HS.References:[1]González-López MA. J Am Acad Dermatol. 2016; Aug;75(2):329-35.[2]González-López MA. PLoS One. 2018 Jan 4;13(1)[3]Vilanova I. J Eur Acad Dermatol Venereol. 2018 May;32(5):820-824.[4]Durán-Vian C, J Eur Acad Dermatol Venereol. 2019 Nov;33(11):2131-2136.Disclosure of Interests:Monica Calderón-Goercke: None declared, J. Gonzalo Ocejo-Vinyals: None declared, Juan Irure-Ventura: None declared, María Gutiérrez-Larrañaga: None declared, Miguel A González-Gay Grant/research support from: Pfizer, Abbvie, MSD, Speakers bureau: Pfizer, Abbvie, MSD, Iosune Vilanova: None declared, Juan Cantos-Mansilla: None declared, Ricardo Blanco Grant/research support from: AbbVie, MSD, and Roche, Speakers bureau: AbbVie, Pfizer, Roche, Bristol-Myers, Janssen, and MSD, Marcos González-López: None declared


1970 ◽  
Vol 21 ◽  
pp. 345-349
Author(s):  
A. M. Fedota ◽  
L. V. Roshcheniuk ◽  
T. V. Tyzhnenko ◽  
A. V. Admakina ◽  
I. V. Horaichuk ◽  
...  

Aim. Analysis of single nucleotide polymorphisms C677T, A1298C and A2756G of MTHFR and MTR one-carbon metabolism genes in patients with various forms of psoriasis in Ukrainian population. Methods. A molecular genetic analysis of 77 patients with vulgaris and arthropathic psoriasis by PCR-RFLP was carried out. Results. In patients with vulgaris and arthropathic psoriasis analysis of the distribution of frequencies of genotypes showed a statistically significant difference between them for C677T polymorphic variants. In patients with psoriasis analysis of genotype distribution of series in the two genes as a whole, showed a statistically significant difference between the theoretically expected and actual frequencies for single nucleotide polymorphisms A1298T and A2756G of MTHFR and MTR genes. Conclusions. Among patients with arthropatic psoriasis, which is the most severe form of psoriasis, the homozygotes for the wild-type allele G of A2756G of MTR gene are more rarely, homozygotes of the TT of C667T of MTHFR gene are found more common than among psoriasis vulgaris patients, which may indicate the contribution of other genes to the development of arthropatic psoriasis. Keywords: psoriasis, arthropatic psoriasis, folate cycle, MTHFR gene, MTR gene.


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