rs744166 Polymorphism of theSTAT3Gene Is Associated with Risk of Gastric Cancer in a Chinese Population

The aim of this study was to explore the association between polymorphisms in signal transducer and activator of transcription protein 3 (STAT3) and the risk of gastric cancer. In the present study, a case-control study was conducted in which rs2293152 and rs744166 polymorphisms inSTAT3were analyzed in 209 Chinese patients with gastric cancer and 294 cancer-free controls. The genotypes were determined by polymerase chain reaction restriction fragment length polymorphism method. For the rs744166 polymorphism, the TC genotype (adjustedOR=0.60, 95% CI = 0.39–0.92, andP=0.020) and CC genotype (adjustedOR=0.41, 95%CI=0.21–0.80, andP=0.009) were associated with a decreased risk of gastric cancer compared to the TT genotype. However, rs2293152 did not show any difference in gastric cancer risk between patients and controls in the CG/CC genotype compared to the GG genotype. Besides, the SNP effects were additive to the effects of environmental factors without any interaction between them in the susceptibility to gastric cancer. Collectively, rs744166 polymorphism might be significantly associated with a decreased risk of gastric cancer in a Chinese population. Additionally, polymorphisms inSTAT3, along with environmental factors, might be associated with the development of gastric cancer.

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The association between IL-17 gene variants and risk of colorectal cancer in a Chinese population: A case–control study

Bioscience Reports ◽

10.1042/bsr20190013 ◽

2019 ◽

Vol 39 (11) ◽

Author(s):

Haiyang Feng ◽

Rongbiao Ying ◽

Tengjiao Chai ◽

Hailang Chen ◽

Haixing Ju

Keyword(s):

Colorectal Cancer ◽

Chinese Population ◽

Case Control Study ◽

Fragment Length Polymorphism ◽

Case Control ◽

Chain Reaction ◽

Node Metastasis ◽

Increased Risk ◽

Polymerase Chain ◽

Control Study

Abstract Interleukin (IL)-17 have been reported to be associated with the pathogenesis of colorectal cancer (CRC). Few studies investigated the association between IL-17 gene polymorphisms and risk of CRC with inconsistent findings. Thus, we recruited 352 CRC cases and 433 controls in a Chinese population and their genotyping was done using polymerase chain reaction-restriction fragment length polymorphism method. Our data showed that IL-17A rs2275913 polymorphism was associated with the increased risk of CRC, while no association was observed for IL-17F rs763780 polymorphism. Stratified analyses revealed that the significant association was also obtained in the females, smokers, drinkers and age ≥ 60 years groups for rs2275913 polymorphism. Moreover, the CC and/or GC genotype of rs2275913 polymorphism were correlated with TNM stage and lymph node metastasis. No association was shown between IL-17F rs763780 polymorphism and clinical characteristics of CRC. In conclusion, our data indicate that IL-17A rs2275913 polymorphism but not IL-17F rs763780 polymorphism contributes to increased risk for CRC patients in this Chinese population.

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Association of angiotensin-converting enzyme insertion/deletion (ACE I/D) and angiotensinogen (AGT M235T) polymorphisms with the risk of obesity in a Tunisian population

Journal of the Renin-Angiotensin-Aldosterone System ◽

10.1177/1470320320907820 ◽

2020 ◽

Vol 21 (2) ◽

pp. 147032032090782

Author(s):

Wided Khamlaoui ◽

Sounira Mehri ◽

Sonia Hammami ◽

Roberto Elosua ◽

Mohamed Hammami

Keyword(s):

Case Control Study ◽

Fragment Length Polymorphism ◽

Additive Model ◽

Tunisian Population ◽

Obese Patients ◽

Chain Reaction ◽

Matched Case ◽

Polymerase Chain ◽

Matched Case Control Study ◽

Control Study

Objective: This study aims to determine whether genetic variants in ACE I/D and AGT M235T are associated with overweight-obesity and body mass index (BMI) in a Tunisian population. Methods: We designed an age- and sex-matched case-control study. The height and weight were measured and BMI was calculated. A total of 259 overweight-obese patients and 369 healthy controls were genotyped for the ACE I/D and AGT M235T genes using polymerase chain reaction and restriction fragment length polymorphism. Results: ACE I/D and AGT M235T genes were associated with BMI, waist circumference and overweight-obesity (p⩽0.001). In an additive model, the I and the M alleles in ACE and AGT variants, respectively, were associated with a lower BMI: –1.45 and −2.29 units, respectively. ACE I/D genotypes were associated with dyslipidemia; AGT M235T genotypes with dyslipidemia and total cholesterol. Conclusion: These data suggest that variations in ACE I/D and AGT M235T affect the risk of overweight-obesity, BMI and dyslipidemia, and could point to a key molecular pathway of metabolic syndrome and its related comorbidities.

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MMP-2 and MMP-9 Polymorphisms and Preeclampsia Risk in Tunisian Arabs: A Case-Control Study

Journal of Clinical Medicine ◽

10.3390/jcm10122647 ◽

2021 ◽

Vol 10 (12) ◽

pp. 2647

Author(s):

Marwa Ben Ali Gannoun ◽

Nozha Raguema ◽

Hedia Zitouni ◽

Meriem Mehdi ◽

Ondrej Seda ◽

...

Keyword(s):

Promoter Region ◽

Case Control Study ◽

Fragment Length Polymorphism ◽

Case Control ◽

Hypertensive Disorders Of Pregnancy ◽

Chain Reaction ◽

Pcr Rflp ◽

Polymerase Chain ◽

Control Study ◽

Risk Of Preeclampsia

The abnormal production of matrix metalloproteinases (MMPs), especially MMP-9 and MMP-2, plays a pivotal role in hypertensive disorders of pregnancy, and as such, can influence the development of preeclampsia. These alterations may result from functional genetic polymorphisms in the promoter region of MMP-9 and MMP-2 genes, which modify MMP-9 and MMP-2 expression. We investigated the association of MMP-9 polymorphism rs3918242 (-1562 C>T) and MMP-2 polymorphism rs2285053 (-735 C>T) with the risk of preeclampsia. This case–control study was conducted on 345 women with preeclampsia and 281 age-matched women with normal pregnancies from Tunisian hospitals. Genomic DNA was extracted from whole blood collected at delivery. Genotypes for -1562 C>T and -735 C>T polymorphisms were performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). An increased frequency of heterozygous MMP-9 -1562 C/T genotype carriers was observed in women with preeclampsia compared to healthy controls (p = 0.03). In contrast, the MMP-2 -735 C>T polymorphism was not significantly different regarding frequency distribution of the allele and genotype between healthy pregnant women and women with preeclampsia. Our study suggests that the MMP-9 -1562 C/T variant, associated with high MMP-9 production, could be a genetic risk factor for preeclampsia in Tunisian women.

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ATG7 Polymorphisms rs7625184 and rs2606750 are Not Associated with Parkinson’s Disease: A Case Control Study

10.21203/rs.3.rs-257405/v1 ◽

2021 ◽

Author(s):

Ming Zou ◽

Jian-Yong Wang ◽

Ren-Jun Lv ◽

Shan-Jing Nie ◽

Lan-Bing Zhu ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Case Control Study ◽

Fragment Length Polymorphism ◽

Case Control ◽

Nucleotide Polymorphisms ◽

Chain Reaction ◽

Single Nucleotide ◽

Polymerase Chain ◽

Control Study

Abstract Background: Deregulation of autophagy is involved in the development and progression of Parkinson’s disease. ATG7, an E1 like enzyme, palys a key role in autophagy. This study aimed to investigating the association between ATG7 polymorphisms and PD susceptibility. Methods: Single nucleotide polymorphisms of ATG7, including rs7625184 and rs2606750, were identified by polymerase chain reaction-restriction fragment length polymorphism in a Han Chinese population consisting of 312 PD patients and 309 healthy controls. Results: Genotyping analyses showed that none of the 2 SNPs was significantly associated with PD risk.Conclusions: Our results suggest that rs7625184 and rs2606750 are not associated with PD susceptibility. Further studies are warranted in revealing the links between ATG7 and PD.

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Relationship between −344T/C polymorphism in the aldosterone synthase gene and atrial fibrillation in patients with essential hypertension

Journal of the Renin-Angiotensin-Aldosterone System ◽

10.1177/1470320311417654 ◽

2011 ◽

Vol 12 (4) ◽

pp. 557-563 ◽

Cited By ~ 7

Author(s):

Xiaojian Sun ◽

Jun Yang ◽

Xiaofei Hou ◽

Jun Li ◽

Yu Shi ◽

...

Keyword(s):

Atrial Fibrillation ◽

Case Control Study ◽

Fragment Length Polymorphism ◽

Chinese Patients ◽

Aldosterone Synthase ◽

Atrial Remodelling ◽

Familial Atrial Fibrillation ◽

Polymerase Chain ◽

The Difference ◽

Control Study

Introduction: Aldosterone plays an important role in the pathogenesis of non-familial atrial fibrillation (AF). We tested the hypothesis that the −344T/C polymorphism in the aldosterone synthase gene may be associated with non-familial AF in Chinese patients with hypertension. Materials and methods: We performed a 1:1 paired case–control study in 310 cases of hypertension with AF and same number matched controls. The −344T/C polymorphism was determined with polymerase chain reaction–restriction fragment length polymorphism. Results: The distribution of the CYP11B2 genotypes (TT, TC and CC) was 41.9%, 50.6%, and 7.4% in AF patients, which was not different from controls (48.4%, 44.5%, and 7.1%, χ2 = 2.675, p = 0.263). The difference between the C allele (32.3% vs. 29.4%) was also not significant between two groups (χ2 = 1.661, p = 0.197). Logistic regression analysis showed that LAD and LVEDD (both p < 0.001), rather than the C allele of the CYP11B2 gene ( p= 0.107) were significant predictors for AF. The LAD of C allele carriers is significantly larger than that of non-C allele carriers ( p = 0.009). Conclusions: Our results indicate that the −344T/C polymorphism in the aldostrone synthase gene is not associated with AF but it might be associated with atrial remodelling in hypertensives.

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Analysis of glutathione S-transferase genes polymorphisms and the risk of schizophrenia in a sample of Iranian population

Neuron Glia Biology ◽

10.1017/s1740925x12000130 ◽

2011 ◽

Vol 7 (2-4) ◽

pp. 199-203 ◽

Cited By ~ 7

Author(s):

Farah Lotfi Kashani ◽

Dor Mohammad Kordi-Tamandani ◽

Roya Sahranavard ◽

Mohammad Hashemi ◽

Farzaneh Kordi-Tamandani ◽

...

Keyword(s):

Genomic Dna ◽

Case Control Study ◽

Gene Interaction ◽

Case Control ◽

Glutathione S Transferase ◽

Chain Reaction ◽

Healthy Control ◽

Glutathione S Transferases ◽

Polymerase Chain ◽

Control Study

Glutathione S-transferases (GSTs) are major intracellular antioxidants, which, impaired in their function, are involved in the progress of schizophrenia (SCZ). The aim of this case-control study was to investigate the association between the polymorphism of glutathione S-transferases M1 (GSTM1), T1 (GSTT1), the glutathione S-transferase P1 gene (GSTP1) and SCZ. We isolated genomic DNA from peripheral blood of 93 individuals with SCZ and 99 healthy control subjects' genotypes analyzing them for GSTM1, GSTT1 and GSTP1 using polymerase chain reaction. The analysis of the gene–gene interaction between GSTs indicated that the magnitude of the association was greater for the combined AG/GSTT1 & GSTM1 genotypes (OR = 2.51; 95% CI: 1.13–5.63, P = 0.02). The AG and combined AG + GG genotypes of GSTP1 increased the risk of SCZ (OR = 1.83; 95% CI: 0.94–3.75 and OR = 1.71; 95% CI: 0.92–3.19, respectively). The genotypes of GSTT/NULL, NULL/GSTM and NULL/NULL increased the risk of SCZ (OR = 2.05; 95% CI: 0.9–4.74; OR = 2.0; 95% CI: 1.68–2.31; and OR = 1.8; 95% CI: 0.57–2.46, respectively). The present study supports previous data that suggest that impairment in the function of GSTs genes may increase the risk of SCZ.

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The association between MMP-1 gene rs1799750 polymorphism and knee osteoarthritis risk

Bioscience Reports ◽

10.1042/bsr20181257 ◽

2018 ◽

Vol 38 (5) ◽

Cited By ~ 4

Author(s):

Rui Geng ◽

Yuansheng Xu ◽

Wenhao Hu ◽

Hui Zhao

Keyword(s):

Case Control Study ◽

Fragment Length Polymorphism ◽

Case Control ◽

Chinese Han ◽

Knee Oa ◽

Matrix Metalloproteinase 1 ◽

Standard Polymerase Chain Reaction ◽

Different Populations ◽

Polymerase Chain ◽

Control Study

Matrix metalloproteinase 1 (MMP-1) degrades cartilage, which may result in osteoarthritis (OA) development. Several studies have explored the association between MMP-1 gene rs1799750 polymorphism and OA in different populations. However, the results are inconsistent. The aim of this case–control study was to investigate the association between MMP-1 gene rs1799750 polymorphism and knee OA in a Chinese population. The present study included 308 cases and 404 controls. Genotyping was performed using standard polymerase chain reaction and restriction fragment length polymorphism. The present study found that 2G2G genotype (2G2G vs 1G1G: OR & 95% CI, 2.28 (1.47–3.53), P<0.001; 2G2G + 1G2G vs 1G1G: OR & 95% CI, 1.61 (1.15–2.24), P=0.005; 2G2G vs 1G2G + 1G1G: OR & 95% CI, 1.84 (1.26–2.68), P=0.002) or 2G allele carriers (2G vs 1G: OR & 95% CI, 1.48 (1.20–1.83), P<0.001) of MMP-1 gene rs1799750 polymorphism increased the risk of OA. In conclusion, this case–control study confirms that MMP-1 gene rs1799750 polymorphism increases the risk of knee OA in Chinese Han population.

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OPN gene locus is associated with the risk of knee osteoarthritis: a case–control study

Bioscience Reports ◽

10.1042/bsr20182023 ◽

2019 ◽

Vol 39 (2) ◽

Cited By ~ 2

Author(s):

Houlai Shang ◽

Yuedong Hao ◽

Wenhao Hu ◽

Xiaohui Hu ◽

Qing Jin

Keyword(s):

Knee Osteoarthritis ◽

Chinese Population ◽

Gene Locus ◽

Case Control Study ◽

Fragment Length Polymorphism ◽

Case Control ◽

Chinese Han ◽

Knee Oa ◽

Pcr Rflp ◽

Control Study

AbstractBackground/aims: Studies have demonstrated that osteopontin (OPN) was associated with the severity and development of knee osteoarthritis (OA). Methods: The purpose of this case–control study was to investigate the association between OPN gene rs11730582 polymorphism and knee OA risk in a Chinese population. Genotyping was analyzed using standard PCR and restriction fragment length polymorphism (PCR-RFLP). Results: The present study found that C allele or CC genotype of OPN gene rs11730582 polymorphism was related to decreased risk for knee OA. Furthermore, positive associations were obtained amongst the females, and body mass index (BMI) < 25 kg/m2 groups. Conclusions: To sum up, the present study reveals that OPN gene rs11730582 polymorphism decreases the risk of knee OA in Chinese Han population.

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A Case-control Study on the Association of Mitochondrial Transcription Factor a Gene +35G/C Polymorphism and Mitochondrial DNA Copy Number with the Risk of Endometriosis in Indian Women

International Journal of Biochemistry Research & Review ◽

10.9734/ijbcrr/2021/v30i730279 ◽

2021 ◽

pp. 60-67

Author(s):

Himabindu Beeram ◽

Tumu Venkat Reddy ◽

Suresh Govatati ◽

Swapna Siddamalla ◽

Mamata Deenadayal ◽

...

Keyword(s):

Copy Number ◽

Case Control Study ◽

Case Control ◽

Mtdna Copy Number ◽

Chain Reaction ◽

Indian Women ◽

Mitochondrial Transcription Factor ◽

Mitochondrial Transcription Factor A ◽

Polymerase Chain ◽

Control Study

Aim: The Mitochondrial transcription factor A (TFAM) and mitochondrial (mt) DNA copy number variations are known to contribute in disease development. Genetic factors play an important role in the development of endometriosis. Therefore, this case–control study aimed to analyze the association of TFAM+35G/C polymorphism and mitochondrial copy number with the risk of endometriosis in Indian women. Study Design: This study was carried out on 418 subjects including 200 endometriosis cases and 218 controls. Methodology: Genotyping of TFAM +35G/C polymorphism (rs1937) was carried out by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Quantification of mtDNA copy number was carried out using a real time quantitative polymerase chain reaction (qRT-PCR). Place and Duration of Study: Department of Biochemistry, Osmania University, 2014 to 2020. Results: TFAM genotype as well as allele distributions were all in Hardy-Weinberg equilibrium. The results indicated a significant reduction of GG genotype frequency (P=0.009), high ‘C’ allele frequency (P=0.017) and significantly decreased mtDNA copy number in endometriosis cases compared to controls (P= 0.0001). Conclusion: Present study revealed a statistically significant association of decreased GG genotype of TFAM +35G/C polymorphism and mtDNA copy number with the risk of developing endometriosis in Indian women.

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