Lack of Association of the PolymorphismsIL-17A(−197G/A) andIL-17F(+7488A/G) with Multibacillary Leprosy in Mexican Patients

Background.Leprosy is a chronic infectious disease caused by the intracellular acid-fast bacilliMycobacterium leprae; it has been determined that genetic factors of the host play an important role in the disease susceptibility. Thus, in this case-control study, we evaluated the possible association between theIL-17A G-197A(rs227593) andIL-17F A7488G(His161Arg, rs763780) gene SNPs and susceptibility to leprosy disease in Mexican population.Methods.Seventy-five leprosy patients and sixty-nine control subjects were included. Both SNPs were genotyped with the polymerase chain reaction-restriction fragment length polymorphism technique.Results.We found nonsignificant differences in genotype and allele frequencies related toIL-17A G-197A(rs227593) andIL-17F A7488G(His161Arg, rs763780) gene SNPs in MB as well as subclinical forms of leprosy disease versus healthy individuals.Conclusions.Since the sample size is not large enough, it is difficult to sustain an association of susceptibility to leprosy with genotypes or allele frequencies ofIL-17A G-197A(rs227593) andIL-17F A7488G(His161Arg, rs763780), suggesting thatIL-17polymorphisms have no significant role in the genetic susceptibility to development of this disease in the Mexican Mestizo population.

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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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Association between AUTS2 haplotypes and alcohol dependence in a Japanese population

Acta Neuropsychiatrica ◽

10.1017/neu.2015.70 ◽

2016 ◽

Vol 28 (4) ◽

pp. 214-220 ◽

Cited By ~ 2

Author(s):

Shin Narita ◽

Kenta Nagahori ◽

Daisuke Nishizawa ◽

Eiji Yoshihara ◽

Atsuko Kawai ◽

...

Keyword(s):

Alcohol Dependence ◽

Fragment Length Polymorphism ◽

Allele Frequencies ◽

Chain Reaction ◽

Control Subjects ◽

Genome Wide ◽

Healthy Control ◽

Polymerase Chain ◽

And Control ◽

Genotype And Allele Frequencies

ObjectiveRecent genome-wide analysis has indicated that the autism susceptibility candidate 2 (AUTS2) gene is involved in the regulation of alcohol consumption. We hypothesised that AUTS2 might be associated with the development of alcohol dependence. Therefore, in this exploratory study, we compared the genotype and allele frequencies of the polymorphisms rs6943555 and rs9886351 in the AUTS2 gene between patients with alcohol dependence and healthy control subjects living in a Japanese provincial prefecture. We also examined whether or not the haplotypes consisting of these polymorphisms are related to alcohol dependence.MethodsThe subjects of this study consisted of 64 patients with alcohol dependence and 75 unrelated healthy people. The AUTS2 genotypes were determined by the polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) method.ResultsNo significant differences in the genotype and allele frequencies of the polymorphisms AUTS2 rs6943555 and rs9886351 were found between alcohol dependence and control subjects. On the other hand, the frequencies of the AUTS2 haplotypes were significantly different between them, and the rs6943555 and rs9886351 A-A haplotype was associated with alcohol dependence (p=0.0187).ConclusionThis suggests that the rs6943555 and rs9886351 A-A haplotype might affect the vulnerability to alcohol dependence pathogenesis. Further studies are needed to confirm the reproducibility of the results of this study with increased numbers of subjects.

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C-Reactive Protein +1444C/T Polymorphism Is Associated with the Susceptibility to Pulmonary Tuberculosis

BioMed Research International ◽

10.1155/2020/6634879 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4

Author(s):

Yuzhong Xu ◽

Minggang Cheng ◽

Xiong Wang

Keyword(s):

Pulmonary Tuberculosis ◽

Case Control Study ◽

Allele Frequencies ◽

C Reactive Protein ◽

Reactive Protein ◽

Inflammatory Conditions ◽

Increased Risk ◽

Stratified Analysis ◽

Control Study ◽

Genotype And Allele Frequencies

Objective. The T allele of C-reactive protein (CRP) +1444C/T (rs1130864) polymorphism was associated with increased risk for some inflammatory conditions. The objective of the study was to explore the association between the CRP +1444C/T polymorphism with the susceptibility to pulmonary tuberculosis (PTB) in a Chinese population. Methods. This case-control study enrolled 480 PTB patients and 480 healthy controls. The CRP +1444C/T polymorphism was determined using Sanger sequencing. The odds ratio (OR) and 95% confidence interval (CI) were assessed to examine the strength of genetic correlation. Results. The genotype and allele frequencies of PTB patients differed from controls (CT vs. CC, OR = 1.924 , 95% CI: 1.099-3.371, adjusted P value = 0.022 ; T vs. C, OR = 1.884 , 95% CI: 1.085-3.273, adjusted P value = 0.024 ). Stratified analysis by sex found that PTB patients’ genotype and allele frequencies differed from controls in the male subgroup but not the female subgroup. Conclusion. In conclusion, the minor T allele of CRP +1444C/T polymorphism was associated with increased PTB risk.

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

BioMed Research International ◽

10.1155/2014/527918 ◽

2014 ◽

Vol 2014 ◽

pp. 1-8 ◽

Cited By ~ 5

Author(s):

Kexin Yuan ◽

Huimin Liu ◽

Lina Huang ◽

Xiyun Ren ◽

Jingjing Liu ◽

...

Keyword(s):

Gastric Cancer ◽

Environmental Factors ◽

Chinese Population ◽

Case Control Study ◽

Fragment Length Polymorphism ◽

Chinese Patients ◽

Chain Reaction ◽

Polymerase Chain ◽

Control Study ◽

Development Of Gastric Cancer

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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Prognostic Value of MMP-9 -1562 C/T Gene Polymorphism in Patients With Sepsis

Biomarker Insights ◽

10.1177/1177271919847951 ◽

2019 ◽

Vol 14 ◽

pp. 117727191984795 ◽

Cited By ~ 1

Author(s):

César Bermúdez-Mejía ◽

Melissa F Torres-Cordón ◽

Silvia Becerra-Bayona ◽

Carolina María Páez ◽

Clara Inés Vargas ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Genetic Factors ◽

Case Control Study ◽

Fragment Length Polymorphism ◽

Enzyme Linked Immunosorbent Assay ◽

Nucleotide Polymorphism ◽

Sepsis Mortality ◽

Single Nucleotide ◽

Metalloproteinase 9 ◽

Control Study

Introduction: Matrix metalloproteinase-9 (MMP-9) plays an important role in the pathophysiology of sepsis. A single-nucleotide polymorphism (SNP) at position -1562 (C/T) in the MMP-9 gene has been associated with differential MMP-9 expression, being higher when the -1562 T allele is present. We evaluated the association of the SNP MMP9 -1562 C/T with severity and mortality in patients with sepsis to establish whether the prognosis of the disease is affected. Materials and Methods: A case-control study exploratory was carried out in a cohort of infected patients. 540 individuals were selected in total, 270 patients with sepsis and 270 controls (infected but non-septic), classified according to the 2016 consensus (Sepsis-3). The presence of the single-nucleotide polymorphism (SNP; allele T and/or allele C) was determined through analyses of restriction fragment length polymorphism and plasma levels of MMP-9 were determined through enzyme-linked immunosorbent assay immunoassay. Results: SNP MMP-9 -1562 has two known alleles (T and C), with predominance of the C over the T allele; in the group of patients with sepsis, T allele was found in 7.2% of cases, while C allele in the rest (92.8%); in comparison, in the group of infected but non-septic patients, frequencies were 9.4% for T allele and 90.6% for the C allele ( P = .33). Also, the presence of the polymorphic T allele was not related to the levels of MMP-9 in patients with sepsis in comparison with infected but non-septic patients 780 (397-1375) ng/mL vs 646 (172-1249) ng/mL ( P = .64). There was also no association between the SNP and sepsis mortality ( P = .78). Conclusions: We concluded that there was no association between the SNP MMP9 -1562 C/T and sepsis or between the SNP MMP9 -1562 C/T and sepsis mortality in the Northeastern Colombian septic patient cohort. Further research is needed to clarify the correlation among sepsis, genetic factors with allele T and MMP-9 plasma concentration.

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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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The angiotensin-converting enzyme gene insertion–deletion polymorphism in a white British patient cohort with obstetric cholestasis

Obstetric Medicine ◽

10.1258/om.2009.090005 ◽

2009 ◽

Vol 2 (2) ◽

pp. 67-70

Author(s):

Roman Müllenbach ◽

Natasha Tetlow ◽

Amanda Bennett ◽

Fiona Broughton Pipkin ◽

Linda Morgan ◽

...

Keyword(s):

Angiotensin Converting Enzyme ◽

Case Control Study ◽

Polymerase Chain Reaction Analysis ◽

Allele Frequencies ◽

Converting Enzyme ◽

Retrospective Case ◽

Gene Insertion ◽

Significant Difference ◽

Polymerase Chain ◽

Control Study

The DD genotype of the angiotensin-converting enzyme (ACE) gene is over-represented in Finnish patients with obstetric cholestasis (OC). The purpose of this study was to establish whether this genotype is associated with cholestasis in UK cases. In a retrospective case-control study, we determined the ACE insertion/deletion frequencies in 166 British cases and 100 control women by polymerase chain reaction analysis. No significant difference in allele frequencies was found between these groups, but allele frequencies differed significantly between Finnish and UK OC cases ( P = 0.0005). The prevalence of the DD genotype is lower in UK cases than in controls (χ2 [1 d.f.] = 4.32, P = 0.05) and the odds ratio for OC associated with the DD genotypeis 0.54, 95% confidence interval 0.30–0.97. In contrast to Finnish OC cases, the DD genotype of the ACE is not increased in UK cases.

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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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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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