Nejvíce citovaný článek - PubMed ID 26441205
Nobody Is Perfect: Comparison of the Accuracy of PCR-RFLP and KASP™ Method for Genotyping. ADH1B and FTO Polymorphisms as Examples
OBJECTIVES: COVID-19 caused a global pandemic with millions of deaths. Fat mass and obesity-associated gene (FTO) (alias m6A RNA demethylase) and its functional rs17817449 polymorphism are candidates to influence COVID-19-associated mortality since methylation status of viral nucleic acids is an important factor influencing viral viability. METHODS: We tested a population-based cohort of 5233 subjects (aged 63-87 years in 2020) where 70 persons died from COVID-19 and 394 from other causes during the pandemic period. RESULTS: The frequency of GG homozygotes was higher among those who died from COVID-19 (34%) than among survivors (19%) or deaths from other causes (20%), P <0.005. After multiple adjustments, GG homozygotes had a higher risk of death from COVID-19 with odds ratio = 2.01 (95% confidence interval; 1.19-3.41, P <0.01) compared with carriers of at least one T allele. The FTO polymorphism was not associated with mortality from other causes. CONCLUSIONS: Our results suggest that FTO variability is a significant predictor of COVID-19-associated mortality in Caucasians.
- Klíčová slova
- COVID-19, FTO, Mortality, Polymorphism, SARS-CoV-2,
- MeSH
- alely MeSH
- COVID-19 * mortalita genetika virologie MeSH
- gen pro FTO * genetika MeSH
- genetická predispozice k nemoci MeSH
- jednonukleotidový polymorfismus * MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- SARS-CoV-2 fyziologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- FTO protein, human MeSH Prohlížeč
- gen pro FTO * MeSH
BACKGROUND: The Czech governmental study suggests up to a 25% higher prevalence of type 2 diabetes mellitus (T2DM) in the Roma population than within the majority population. It is not known whether and to what extent these differences have a genetic background. METHODS: To analyze whether the frequencies of the alleles/genotypes of the FTO, TCF7L2, CDKN2A/2B, MAEA, TLE4, IGF2BP2, ARAP1, and KCNJ11 genes differ between the two major ethnic groups in the Czech Republic, we examined them in DNA samples from 302 Roma individuals and 298 Czech individuals. RESULTS: Compared to the majority population, Roma are more likely to carry risk alleles in the FTO (26% vs. 16% GG homozygotes, p < .01), IGF2BP2 (22% vs. 10% TT homozygotes, p < .0001), ARAP1 (98% vs. 95% of A allele carriers, p < .005), and CDKN2A/2B (81% vs. 66% of TT homozygotes, p < .001) genes; however, less frequently they are carriers of the TCF7L2 risk allele (34% vs. 48% of the T allele p < .0005). Finally, we found significant accumulation of T2DM-associated alleles between the Roma population in comparison with the majority population (25.4% vs. 15.2% of the carriers of at least 12 risk alleles; p < .0001). CONCLUSION: The increased prevalence of T2DM in the Roma population may have a background in different frequencies of the risk alleles of genes associated with T2DM development.
- Klíčová slova
- Czech population, Roma population, T2DM, gene score, polymorphism,
- MeSH
- adipozita MeSH
- cholesterol krev MeSH
- diabetes mellitus 2. typu krev etnologie genetika MeSH
- dospělí MeSH
- frekvence genu * MeSH
- genetické lokusy * MeSH
- krevní glukóza analýza MeSH
- lidé středního věku MeSH
- lidé MeSH
- polymorfismus genetický MeSH
- Romové genetika MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Geografické názvy
- Česká republika MeSH
- Názvy látek
- cholesterol MeSH
- krevní glukóza MeSH
AIM: To replicate the finding that the polymorphism rs6971091 within the NYD-SP18 gene is associated with body mass index (BMI). METHOD: We analysed data of 29,284 adults (46.2% of males, mean age 58.9 (SD 7.3), mean BMI 28.6 (5.0 kg/m2)) examined within the Health Alcohol and Psychosocial Factors in Eastern Europe study in the Czech Republic, Poland, Lithuania and Russia. RESULTS: BMI did not differ by rs6971091 genotype. In men, the mean BMI (SEs) in GG, GA and AA carriers were 27.8 (0.05), 27.9 (0.06) and 27.9 (0.14) kg/m2, respectively, (p = 0.26); in women, the corresponding values were 29.2 (0.06), 29.1 (0.07) and 29.1 (0.16), p = 0.57. In Czech subjects (n = 6,752), for whom the FTO rs17817449 genotype was available, there was no interaction between the NYD-SP18 and FTO polymorphisms in determination of BMI. Adjustment for age, energy and fat intake and physical activity did not materially change the results. There was no association of the NYD-SP18 genotype with waist-hip ratio. CONCLUSION: This study in a large Slavonic population sample suggests that the rs6971091 variant within the NYD-SP18 gene is not an important determinant of obesity in middle-aged persons.
- MeSH
- alely MeSH
- frekvence genu MeSH
- gen pro FTO genetika metabolismus MeSH
- genetická predispozice k nemoci MeSH
- genetické asociační studie MeSH
- index tělesné hmotnosti MeSH
- jaderné proteiny genetika metabolismus MeSH
- jednonukleotidový polymorfismus * MeSH
- kohortové studie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nadváha krev genetika metabolismus MeSH
- obezita krev genetika metabolismus MeSH
- poměr pasu a boků MeSH
- registrace MeSH
- reprodukovatelnost výsledků MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Research Support, N.I.H., Extramural MeSH
- Geografické názvy
- Česká republika MeSH
- Litva MeSH
- Polsko MeSH
- Rusko MeSH
- Názvy látek
- FAM71F1 protein, human MeSH Prohlížeč
- FTO protein, human MeSH Prohlížeč
- gen pro FTO MeSH
- jaderné proteiny MeSH