Distribution of FcγR gene polymorphisms among two sympatric populations in Mali: differing allele frequencies, associations with malariometric indices and implications for genetic susceptibility to malaria

Abstract To evaluate levels of coagulation /anticoagulation factors and distribution of their gene polymorphisms in patients with venous thromboembolism(VTE) and acute myocardial infarction(AMI). Of 95 VTE, 95 AMI patients and 95 normal controls were be studied. The results showed that the levels of fibrinogen and D-Dimer, the activies of FII, FV and FVIII were remarkably higher in patient with VTE than those in healthy group, and the activities of FIX, PC and AT were of no significant difference between VTE group and healthy group. The mean levels of fibrinogen, D-Dimer, FV:C and FVIII:C were significantly higher in AMI group than that in controls; while, no significant difference of FII:C, FIX:C, PC:A and AT:A between AMI patients and the controls. In controls, -148CT + -148TT was associated with higher fibrinogen concentrations, the genotypes of other gene polymorphisms were not associated with levels of coagulation /anticoagulation factors. Clear difference were observed for the T allele frequencies of -148C/T and distribution frequencies of FII A19911G were found between VTE group and normal group. there was significant difference of -1476TT genotype distributions and T allele frequencies in -1476A/T between VTE and control subjects. There was significant difference of AC+CC genotype distribution in 1298 A/C polymorphisms between AMI and control, and it was so with the GA genotype in 1793 G/A polymorphisms. But neither genotype frequencies nor allele frequencies of other polymorphisms were found to be no of significant difference between VTE /AMI group and control group. This study proved the importance of combined functions of several coagulant factors in causing VTE and AMI. The carriage of the C148T mutation, FII 20210G/A and -1476A/T polymorphism might be associated with an increased risk of VTE, while the MTHFR 1298A/C and 1793G/A polymorphisms may be related to the development of AMI. Only some of joint occurrence of above polymorphisms might increase the occurrence rate of VTE or AMI.

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Nucleotide excision repair related gene polymorphisms and genetic susceptibility, chemotherapeutic sensitivity and prognosis of gastric cancer

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis ◽

10.1016/j.mrfmmm.2014.04.008 ◽

2014 ◽

Vol 765 ◽

pp. 11-21 ◽

Cited By ~ 14

Author(s):

Jingwei Liu ◽

Caiyun He ◽

Chengzhong Xing ◽

Yuan Yuan

Keyword(s):

Gastric Cancer ◽

Genetic Susceptibility ◽

Nucleotide Excision Repair ◽

Gene Polymorphisms ◽

Excision Repair ◽

Related Gene ◽

Chemotherapeutic Sensitivity ◽

Nucleotide Excision

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Association of insulin growth factor-1 receptor gene polymorphisms with genetic susceptibility to idiopathic short stature

Genetics and Molecular Research ◽

10.4238/2013.october.18.14 ◽

2013 ◽

Vol 12 (4) ◽

pp. 4768-4779 ◽

Cited By ~ 3

Author(s):

Y. Yang ◽

H. Huang ◽

W. Wang ◽

L. Yang ◽

L.L. Xie ◽

...

Keyword(s):

Growth Factor ◽

Short Stature ◽

Genetic Susceptibility ◽

Gene Polymorphisms ◽

Receptor Gene ◽

Idiopathic Short Stature ◽

Insulin Growth Factor ◽

Receptor Gene Polymorphisms

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Associations of DNA-repair gene polymorphisms with a genetic susceptibility to ionizing radiation in residents of areas with high radon (222Rn) concentration

International Journal of Radiation Biology ◽

10.3109/09553002.2015.1012306 ◽

2015 ◽

Vol 91 (6) ◽

pp. 486-494 ◽

Cited By ~ 11

Author(s):

Maxim Y. Sinitsky ◽

Aleksey V. Larionov ◽

Maxim A. Asanov ◽

Vladimir G. Druzhinin

Keyword(s):

Dna Repair ◽

Ionizing Radiation ◽

Genetic Susceptibility ◽

Gene Polymorphisms ◽

Repair Gene ◽

222Rn Concentration ◽

Dna Repair Gene

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Association Between Thr21Met and Ser89Asn Polymorphisms of the Urotensin II Gene and Systemic Sclerosis

The Journal of Rheumatology ◽

10.3899/jrheum.110509 ◽

2011 ◽

Vol 39 (1) ◽

pp. 106-111 ◽

Cited By ~ 12

Author(s):

YAVUZ PEHLIVAN ◽

BULENT GOGEBAKAN ◽

SERDAR OZTUZCU ◽

METIN OZGEN ◽

GÖZDE YILDIRIM CETIN ◽

...

Keyword(s):

Systemic Sclerosis ◽

Gene Polymorphisms ◽

Turkish Population ◽

Allele Frequencies ◽

Lung Involvement ◽

Urotensin Ii ◽

Finger Flexion ◽

Fibrotic Disorder ◽

Genotype And Allele Frequencies

Objective.Systemic sclerosis (SSc) is an autoimmune chronic fibrotic disorder. Urotensin II (U-II) is predominantly a vasoactive peptide with fibrotic and prothrombotic features. Like endothelin-1 (ET-1), U-II could play an important role in SSc pathogenesis. We evaluated the possible role of the U-II gene polymorphisms (Thr21Met and Ser89Asn) in the genetic susceptibility to SSc in a Turkish population.Methods.A total of 189 patients with SSc and 205 healthy controls were enrolled in our study. We analyzed the genotype and allele frequencies of the U-II (UTS2) gene polymorphisms Thr21Met and Ser89Asn in patients with SSc and in controls.Results.We found that the Thr21Met polymorphism of the UTS2 gene was markedly associated with the risk of developing SSc (p < 0.0001), but there was no relationship between the Ser89Asn polymorphism and SSc (p > 0.05). Two haplotypes (MS and TS) were markedly associated with SSc (p < 0.05). There were significant associations between the genotype and allele frequencies of UTS2 gene Thr21Met polymorphism and cases with diffuse or limited SSc, systemic or lung involvement, finger flexion deformity, pitting scars at the fingertips, positive anticentromere, or positive antitopoisomerase 1 antibody groups.Conclusion.Our study shows the association between Thr21Met, but not Ser89Asn, in the UTS2 gene and SSc. The results strongly suggest that this single-nucleotide polymorphism may be an important risk factor in the development of SSc, and a powerful indicator of severe skin and lung involvement in patients with SSc.

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