Cytochrome P450 single nucleotide polymorphisms in an indigenous Tanzanian population: a concern about the metabolism of artemisinin-based combinations

В исследование были включены 256 пациентов с колоректальным раком (134 мужчины, 122 женщины) и 608 практически здоровых добровольцев (279 мужчин, 329 женщин). Генотипирование однонуклеотидных полиморфизмов I462V (rs1048943) CYP1A1, -154A>C (rs762551) CYP1A2 и L432V (rs1056836) CYP1B1 было проведено методом ПЦР в режиме реального времени. Полиморфизм rs1056836 CYP1B1 (замена L432V) ассоциировался с повышенным риском колоректального рака в популяции Центральной России: OR=1,48, 95%CI=1,07-2,04; р=0,02. A total of 256 patients with colorectal cancer (134 males, 122 females) and 608 age- and sex-matched healthy controls (279 males, 329 females) were recruited for the study. Genotyping of single nucleotide polymorphisms (SNPs) I462V (rs1048943) CYP1A1, -154A>C (rs762551) CYP1A2 and L432V (rs1056836) CYP1B1 were done using Taq-Man-based assays. Polymorphism rs1056836 (substitution L432V) CYP1B1 was associated with increased risk of colorectal cancer in the population from Central Russia: OR=1,48, 95%CI=1,07-2,04; p=0,02.

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The Impact of Genetic Variability of CYP1A2, ADORA2A, and AHR on Caffeine Consumption and Response among Adult New Zealanders

Proceedings ◽

10.3390/proceedings2019037030 ◽

2019 ◽

Vol 37 (1) ◽

pp. 30

Author(s):

Tennent ◽

Rutherfurd-Markwick ◽

Ali ◽

Wham

Keyword(s):

Cytochrome P450 ◽

Genetic Variability ◽

Single Nucleotide Polymorphisms ◽

Nucleotide Polymorphisms ◽

Caffeine Consumption ◽

Cytochrome P450 1A2 ◽

Single Nucleotide ◽

The Impact ◽

New Zealanders

Three single nucleotide polymorphisms (SNPs) have known links to caffeine consumption,metabolism, and post-consumption effects and responses: cytochrome P450 1A2 (CYP1A2; rs762551) [...]

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822 Detecting the Single Nucleotide Polymorphisms and Metabolic Phenotype of Cytochrome P450 Genes in Chinese Han Population

Pediatric Research ◽

10.1203/00006450-201011001-00822 ◽

2010 ◽

Vol 68 ◽

pp. 413-413

Author(s):

A D Shen ◽

J Xiao ◽

Y Gu ◽

L Sun ◽

Q Miao

Keyword(s):

Cytochrome P450 ◽

Single Nucleotide Polymorphisms ◽

Chinese Han Population ◽

Metabolic Phenotype ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Single Nucleotide ◽

Han Population ◽

Cytochrome P450 Genes

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Multiplex Genotyping of Cytochrome P450 Single-Nucleotide Polymorphisms by Use of MALDI-TOF Mass Spectrometry

Clinical Chemistry ◽

10.1373/clinchem.2006.080739 ◽

2007 ◽

Vol 53 (5) ◽

pp. 933-939 ◽

Cited By ~ 19

Author(s):

Ashish Misra ◽

Jun-Yan Hong ◽

Sobin Kim

Keyword(s):

Mass Spectrometry ◽

Cytochrome P450 ◽

Single Nucleotide Polymorphisms ◽

Solid Phase ◽

Affinity Purification ◽

Nucleotide Polymorphisms ◽

Single Nucleotide ◽

Maldi Tof Mass Spectrometry ◽

Maldi Tof ◽

Base Extension

Abstract Background: Polymorphisms in cytochrome P450 (CYP450) genes contribute to interindividual differences in the metabolism of xenobiotic chemicals, including the vast majority of drugs, and may lead to toxicity and adverse drug reactions. Studies on these polymorphisms in research and diagnostic settings typically involve large-scale genotyping and hence require high-throughput assays. Methods: We used the previously developed solid-phase capture–single-base extension (SPC-SBE) approach for concurrent analysis of 40 single-nucleotide polymorphisms (SNPs) of CYP2C9 and 50 SNPs of CYP2A13, both genes belonging to the CYP450 family. Desired SNP-containing regions for each gene were amplified in a single-step multiplex PCR. We designed a library of primers to anneal immediately upstream of the selected SNPs and extended it with biotinylated terminators using PCR products as templates. Biotinylated extension products were isolated by affinity purification and analyzed with MALDI-TOF mass spectrometry to determine SNP genotypes. Results: We analyzed 11 samples for CYP2C9 and 14 samples for CYP2A13 with unambiguous detection of SNPs in all samples. Many samples showed a high occurrence of heterozygotes for both genes, with as many as 10 of 50 SNPs appearing as heterozygotes in 1 sample genotyped for CYP2A13. Conclusions: The SPC-SBE method provides an efficient means for genotyping SNPs from the CYP450 family. This approach is suitable for automation and can be extended to other genotyping applications.

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