Influence of single nucleotide polymorphisms in the MMP1 promoter region on cutaneous melanoma progression

ABSTRACTWe employed an endpoint genotyping method to update the prevalence rate of positivity for the TR34/L98H mutation (a 34-bp tandem repeat mutation in the promoter region of thecyp51Agene in combination with a substitution at codon L98) and the TR46/Y121F/T289A mutation (a 46-bp tandem repeat mutation in the promoter region of thecyp51Agene in combination with substitutions at codons Y121 and T289) among clinicalAspergillus fumigatusisolates obtained from different regions of Iran over a recent 5-year period (2010 to 2014). The antifungal activities of itraconazole, voriconazole, and posaconazole against 172 clinicalA. fumigatusisolates were investigated using the European Committee on Antimicrobial Susceptibility Testing (EUCAST) broth microdilution method. For the isolates with an azole resistance phenotype, thecyp51Agene and its promoter were amplified and sequenced. In addition, using a LightCycler 480 real-time PCR system, a novel endpoint genotyping analysis method targeting single-nucleotide polymorphisms was evaluated to detect the L98H and Y121F mutations in thecyp51Agene of all isolates. Of the 172A. fumigatusisolates tested, the MIC values of itraconazole (≥16 mg/liter) and voriconazole (>4 mg/liter) were high for 6 (3.5%). Quantitative analysis of single-nucleotide polymorphisms showed the TR34/L98H mutation in thecyp51Agenes of six isolates. No isolates harboring the TR46/Y121F/T289A mutation were detected. DNA sequencing of thecyp51Agene confirmed the results of the novel endpoint genotyping method. By microsatellite typing, all of the azole-resistant isolates had genotypes different from those previously recovered from Iran and from the Dutch TR34/L98H controls. In conclusion, there was not a significant increase in the prevalence of azole-resistantA. fumigatusisolates harboring the TR34/L98H resistance mechanism among isolates recovered over a recent 5-year period (2010 to 2014) in Iran. A quantitative assay detecting a single-nucleotide polymorphism in thecyp51Agene ofA. fumigatusis a reliable tool for the rapid screening and monitoring of TR34/L98H- and TR46/Y121F/T289A-positive isolates and can easily be incorporated into clinical mycology algorithms.

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Single nucleotide polymorphisms in DNA repair genes XRCC1 and APEX1 in progression and survival of primary cutaneous melanoma patients

Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis ◽

10.1016/j.mrfmmm.2008.11.011 ◽

2009 ◽

Vol 661 (1-2) ◽

pp. 78-84 ◽

Cited By ~ 16

Author(s):

Adina Figl ◽

Dominique Scherer ◽

Eduardo Nagore ◽

Justo Lorenzo Bermejo ◽

Elke Dickes ◽

...

Keyword(s):

Dna Repair ◽

Single Nucleotide Polymorphisms ◽

Cutaneous Melanoma ◽

Dna Repair Genes ◽

Nucleotide Polymorphisms ◽

Primary Cutaneous Melanoma ◽

Single Nucleotide ◽

Melanoma Patients ◽

Repair Genes

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Single-nucleotide polymorphisms of the interleukin-18 gene promoter region in rheumatoid arthritis patients: protective effect of AA genotype

Tissue Antigens ◽

10.1046/j.1399-0039.2003.00137.x ◽

2003 ◽

Vol 62 (6) ◽

pp. 498-504 ◽

Cited By ~ 60

Author(s):

S.P. Sivalingam ◽

K.H. Yoon ◽

D.R. Koh ◽

K.Y. Fong

Keyword(s):

Rheumatoid Arthritis ◽

Single Nucleotide Polymorphisms ◽

Protective Effect ◽

Promoter Region ◽

Gene Promoter ◽

Nucleotide Polymorphisms ◽

Interleukin 18 ◽

Single Nucleotide ◽

Gene Promoter Region

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Effect of single nucleotide polymorphisms in GH gene promoter region on carcass traits and intramuscular fatty acid compositions in Japanese Black cattle

Livestock Science ◽

10.1016/j.livsci.2014.04.026 ◽

2014 ◽

Vol 165 ◽

pp. 15-21 ◽

Cited By ~ 1

Author(s):

Haruna Sugita ◽

Astrid Ardiyanti ◽

Shoko Yokota ◽

Shinichi Yonekura ◽

Takuji Hirayama ◽

...

Keyword(s):

Fatty Acid ◽

Single Nucleotide Polymorphisms ◽

Promoter Region ◽

Gene Promoter ◽

Nucleotide Polymorphisms ◽

Japanese Black Cattle ◽

Single Nucleotide ◽

Gh Gene ◽

Gene Promoter Region ◽

Fatty Acid Compositions

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Single Nucleotide Polymorphisms in the Proximal Promoter Region of the Adiponectin (APM1) Gene Are Associated With Type 2 Diabetes in Swedish Caucasians

Diabetes ◽

10.2337/diabetes.53.2007.s31 ◽

2004 ◽

Vol 53 (Supplement 1) ◽

pp. S31-S35 ◽

Cited By ~ 89

Author(s):

H. F. Gu ◽

A. Abulaiti ◽

C.-G. Ostenson ◽

K. Humphreys ◽

C. Wahlestedt ◽

...

Keyword(s):

Type 2 Diabetes ◽

Single Nucleotide Polymorphisms ◽

Promoter Region ◽

Proximal Promoter ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Proximal Promoter Region

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Genetic Variants in the Promoter Region of miR-10b and the Risk of Breast Cancer

BioMed Research International ◽

10.1155/2017/2352874 ◽

2017 ◽

Vol 2017 ◽

pp. 1-7 ◽

Cited By ~ 1

Author(s):

Jiaping Chen ◽

Yue Jiang ◽

Jing Zhou ◽

Sijun Liu ◽

Yayun Gu ◽

...

Keyword(s):

Breast Cancer ◽

Single Nucleotide Polymorphisms ◽

In Silico ◽

Promoter Region ◽

Cancer Susceptibility ◽

Chinese Women ◽

Close Association ◽

Breast Cancer Susceptibility ◽

Nucleotide Polymorphisms ◽

Single Nucleotide

Variants in microRNA genes may affect their expression by interfering with the microRNA maturation process and may substantially contribute to the risk of breast cancer. Recent studies have identified miR-10b as an interesting candidate because of its close association with the metastatic behavior of breast cancer. However, the roles of miR-10b-related single nucleotide polymorphisms in breast cancer susceptibility remain unclear. This case-control study evaluated the associations between variants in the upstream transcription regulation region of miR-10b and the risk of breast cancer among Chinese women. Seven potentially functional SNPs were investigated using genotyping assays. The potential biological functions of the identified positive SNPs were further evaluated using in silico databases. We found that rs4078756, which was located at the promoter region of miR-10b, was significantly associated with breast cancer risk (rs4078756 AG/GG versus AA, adjusted odds ratio: 1.17, 95% confidence interval: 1.02–1.35). The other six single nucleotide polymorphisms exhibited negative associations. Based on the in silico prediction, rs4078756 potentially regulated miR-10b expression through promoter activation or repression. These findings indicate that a potentially functional SNP (rs4078756) in the promoter region of miR-10b may contribute to breast cancer susceptibility among Chinese women.

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