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Effects of the lactase 13910 C/T and calcium-sensor receptor A986S G/T gene polymorphisms on the incidence and recurrence of colorectal cancer in Hungarian population
Get PDFBackground: Epidemiological studies suggested the chemopreventive role of higher calcium intake in colorectal carcinogenesis. We examined genetic polymorphisms that might influence calcium metabolism: lactase (LCT) gene 13910 C/T polymorphism causing lactose intolerance and calcium-sensing receptor (CaSR) gene A986S polymorphism as a responsible factor for the altered cellular calcium sensation. Methods: 538 Hungarian subjects were studied: 278 patients with colorectal cancer and 260 healthy controls. Median follow-up was 17 months. After genotyping, the relationship between LCT 13910 C/T and CaSR A986S polymorphisms as well as tumor incidence/progression was investigated. Results: in patient with colorectal cancer, a significantly higher LCT CC frequency was associated with increased distant disease recurrence (OR = 4.04; 95% CI = 1.71-9.58; p = 0.006). The disease free survival calculated from distant recurrence was reduced for those with LCT CC genotype (log rank test p = 0.008). In case of CaSR A986S polymorphism, the homozygous SS genotype was more frequent in patients than in controls (OR = 4.01; 95% CI = 1.33-12.07; p = 0.014). The number of LCT C and CaSR S risk alleles were correlated with tumor incidence (p = 0.035). The CCSS genotype combination was found only in patients with CRC (p = 0.033). Conclusion: LCT 13910 C/T and CaSR A986S polymorphisms may have an impact on the progression and/or incidence of CRC
Population characteristics by LCT-13910 genotypes.
No full text1<p><i>p</i> = 0.001 (LCT-13910 CC vs LCT-13910 CT/TT); Student <i>t</i>-test (36 missing because of incomplete data).</p
Regulation of branchial Na+/K+-ATPase in common carp Cyptinus carpio L. acclimated to different temperatures
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13910.pdf (Publisher’s version ) (Open Access
Association of LCT-13910 C/T Polymorphism and Colorectal Cancer
No full textPurpose: The activity of epithelial lactase (LCT) is associated with a polymorphism 13910 bp upstream in the lactase encoding gene. Because the association between the LCT-13910 polymorphism and the risk for colorectal cancer is not clear, we investigated the role of the LCT-13910 polymorphism as a potential risk factor for colorectal cancer and colorectal polyps in the Turkish population. Methods: One hundred sixty-six subjects (74 with polyps, 44 with colorectal cancer, 48 controls), who had undergone a total colonoscopy between January 2012 and November 2012 in our endoscopy unit were genotyped for the LCT-13910 polymorphism by using the polymerase chain reaction and minisequencing. Results: The CC genotype in the lactose gene 13910 locus, which is accepted as the genetic indicator of lactase deficiency, was determined as 83.7%. The CC genotype rate was determined as 89.1% in patients who had a history of lactose intolerance and 81.5% in those without a history of lactose intolerance (P = 0.236). No difference was detected between the patients who had colorectal polyp(s) and/or cancer and the controls with regard to the LCT-13910 polymorphism. No differences were determined between groups when they were compared with regard to the C or the T allele. Conclusion: No differences were detected between the patients who had colorectal polyp(s) and/or cancer and those with normal colonoscopy findings with regard to lactase gene polymorphisms. No differences were determined between the groups when they were compared with regard to the C or the T allele
Rotavirus infection in children with different variants allelic polymorphism C> T 13910 gene LCT = Перебіг ротавірусної інфекції у дітей з різними варіантами алельного поліморфізму С >Т 13910 гена лактази
Get PDFNezgoda I., Naumenko O. Rotavirus infection in children with different variants allelic polymorphism C> T 13910 gene LCT = Перебіг ротавірусної інфекції у дітей з різними варіантами алельного поліморфізму С >Т 13910 гена лактази. Journal of Education, Health and Sport. 2016;6(7):566-578. eISSN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.59126
http://ojs.ukw.edu.pl/index.php/johs/article/view/3721
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© The Author (s) 2016;
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This is an open access article licensed under the terms of the Creative Commons Attribution Non Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted, non commercial
use, distribution and reproduction in any medium, provided the work is properly cited.
The authors declare that there is no conflict of interests regarding the publication of this paper.
Received: 02.07.2016. Revised 25.07.2016. Accepted: 28.07.2016.
УДК 616.31-002-053:616-092
ПЕРЕБІГ РОТАВІРУСНОЇ ІНФЕКЦІЇ У ДІТЕЙ З РІЗНИМИ ВАРІАНТАМИ АЛЕЛЬНОГО ПОЛІМОРФІЗМУ С >Т 13910 ГЕНА ЛАКТАЗИ
І. І. Незгода, О. М. Науменко
Вінницький національний медичний університет імені М. І. Пирогова
Резюме. У статті приведені результати обстеження 103 дітей, з діагнозом ротавірусної інфекції. Вивчено та проаналізовано перебіг ротавірусної інфекції в залежності від встановленого генотипу поліморфізму С >Т в позиції 13910 гена лактази (LСT). Встановлено, що найважчий перебіг даної інфекції асоціюється з генотипами, які відповідають за непереносимість лактози С/С-13910 та С/Т-13910.
Ключові слова: ротавірусна інфекція, лактазна недостатність, діти.
ROTAVIRUS INFECTION IN CHILDREN WITH DIFFERENT VARIANTS ALLELIC POLYMORPHISM C> T 13910 GENE LCT
I. Nezgoda, O. Naumenko
Vinnitsa National Medical University Pirogov
Resume. The article cited the results of a survey of 103 children with a diagnosis of rotavirus infection. Studied and analyzed the course of rotavirus infection depending on the established genotype polymorphism C > T in position 13910 gene lactase (LCT). Found that the most difficult course of infection is associated with genotypes, which are responsible for lactose intolerance C/C-13910 and C/T-13910.
Introduction. Rotavirus infection is the dominant etiologic factor in acute intestinal infections in children.Rotavirus protein NSP4 causes deficiency of the enzyme lactase-floryzynhidrolases, while a secondary lactase deficiency. There degree could vary from the minimum till severest. This is due primarily genetically determined lactase activity, as well as percentage in children with determined primary lactase deficiency.
Primary lactase deficiency directly correlated with polymorphism C>T at position 13910 lactase gene (LCT). Polymorphism, located above the starting point of transcription, is in the regulatory region of the gene lactase. Genotype S/S-13910 is responsible for almost total absence of lactase. S/T-13910 genotype is associated with low levels of lactase, but it is sufficient for normal Digesting. Genotype T/T-13190 shows high activity of this enzyme.
Work on the study of polymorphism C> T at position 13910 lactase gene (LCT) in children with acute intestinal infections in Ukraine were not conducted because the goal of our work is a detailed study of the clinical features of rotavirus infectionin children depending on the genetically determined enzyme activity, based on established genotypes.
Materials and methods. The study was conducted at the Vinnytsia Regional Clinical Hospital of Infectious Diseases at the Department of Pediatric Infectious Diseases VNMU named by NI Pirogov. During the period from December 2012 to May 2016 under the supervision was 103 patients aged 1 to 4 years, with a diagnosis of rotavirus infection. The average age (M ± m) patients was 23,4 ± 1,46 months. To establish the etiological factor was performed bacteriological stool examination for detection of pathogenand conditionally pathogenic microflora and enzyme immunoassay stool indication of Rotavirus, Norovirus, Astrovirus and adenoviruses and Clostridium difficille tox A / B and Clostridium difficille GDH. We used test systems from R-Biopharm, Germany. In addition, we studied gene polymorphisms LCT-13910 by polymerase chain reaction with subsequent restriction analysis at the Institute of Hereditary Pathology, Medical Sciences, Lviv, Ukraine. In addition, we studied gene polymorphism at position 13910 LCT in 33 healthy children, residents of the city Vinnytsya and its region, representative by age and gender.
In the population studied groups there were three possible options genotypes: homozygous for the C allele patients (CC), homozygous for the T allele person (TT), and children with heterozygous C and T allele (CT).
Results of research. When analyzing polymorphism of gene LCT-13910, in children with rotavirus infection was dominant genotype C/C-13910 - in 55,3% of patients, the frequency of genotype C/T-13910 was 34,2%, and only in 10,5% children determined genotype C/C-13910. In more than half of the children surveyed (23 children) diagnosed monoinfection – 57,5%, in the other parts - mixed infection with opportunistic bacteria - 17 patients (42,5%).
Genotype C/C-13910, which is associated with almost complete absence of lactase, found in 48 children of the main group, representing 46,6% heterozygote genotype C/T-13910. characterized to low, but sufficient for digestion, lactase activity was detected in 43 children (41,7%), and it is heterozygotes for the polymorphism C>T in position 13910 lactase gene (LCT) are most likely to develop secondary lactoseinsufficiency. In 12 children (11,6%) was established genotype T/T-13910 homozygotes - carriers of this genotype have the highest activity of the lactase. In healthy children genotype frequencies are: genotype C/C-13910 was installed in 66,7% of children, the fate of the genotype C/T-13910 accounted 30%, and only 3,33% of the children in the control group had genotype T/T -13910. Thus, the vast number of examined children has been a genetically determined reduction in lactase activity, which in turn contributes to the peculiarities of course they RVI.
One of the prominent symptoms of RVI is hyperthermia. After analyzing temperature response in children with different genotypes LCT gene found that the overwhelming number of children surveyed had a slight fever, but in children with genotypes responsible for lactase deficiency noted the increasingly febrile fever. The average duration of fever was significantly longer (p <0,05) in children with genotype C/C-13910 - 2,6 ± 0,22 days than in children with genotype T/T-13910, which was the duration of hyperthermia 1,66 ± 0,39. Children with genotype C/T-13910 had a temperature response over 2,52 ± 0,29 days.
Vomiting is other cardinal symptomof RVI. The average duration of vomiting in children with genotypes associated with hypolactasia was 1,58 ± 0,19 days and 1,76 ± 0,17 days respectively. Children with genotype T/T-13910, which corresponds to the high activity of lactase vomiting lasted an average of 1,08 ± 0,22.
Diarrhea is the leading symptom of RVI, the basis of which the underlying metabolic disorders, primarily lactaseinsufficiency, which determines the nature of osmotic diarrhea because the severity of the syndrome is closely associated with the activity disaccharidases, namely lactase in the intestinal lumen.
Thus, children with genotype C/C-13910 average duration of diarrhea was 3,45 ± 0,25 days. Children with genotype T/T-13910 had diarrhea for 2,66 ± 0,48 days. Significantly longer diarrheal syndrome was found in heterozygotes polymorphism with genotype C/T-13910 - 4,04 ± 0,24 days (p <0,05), compared with homozygotes T/T-13910. The maximum amount of defecation a day observed in children with genotypes associated with lactose intolerance in children, but among patients with high lactase activity in the intestinal lumen was noted most often from 1 to 3 of episodes of stool per day.
Dehydrationis a formidable display of RVI andit'smostly determines the severity of infection in children, because the child's body very quickly lose fluids and electrolytes. Dehydration second stages are often developed in children with genotypes C/C-13910 and C/T-13910, but the overwhelming number of children with genotype T/T-13910 dehydration signs were absent.
Conclusions
1. Rotavirus infection in children remains relevant medical and social problem worldwide and Ukraine
2. Among children with RVI 46,6% of patients with genotype carriers proved to C/C-13910, which is associated with almost complete absence of lactase, the figure observed in 1,39 times more likely than healthy children, genotype C/T-13910 that corresponding to low, but sufficient for digestion, lactase activity was detected in 41,7% of patients, whereas genotype T/T-13910, which corresponds to the high activity of the enzyme was installed only in 11,6% of children with RVI, unlike healthy children – 39,4%.
3. Clinical course RVI children with genotype C/C-13910, intoxication syndrome characterized by prolonged fever of 2,61 ± 0,22 days, compared with children with genotype T/T 13910 (1,66 ± 0,39 days at p <0,05) and severe vomiting.
4. Among children with genotype C/T-13910 is marked the longest diarrheal syndrome - 4,04 ± 0,24 days, compared with children with genotype C/C-13910 (3,45 ± 0,25 days) and T/T-13910 (2,66 ± 0,48 days at p <0,05).
5. The course RVI in patients with genotype T/T-13910 is characterized by minimal clinical symptoms, corresponding to mild disease.
Key words: rotavirus infection, lactate failure, children
Reported C/T-13910 genotype frequencies in ancient DNA studies.
No full text<p>Reported C/T-13910 genotype frequencies in ancient DNA studies.</p
Перебіг ротавірусної інфекції у дітей з різними варіантами алельного поліморфізму С˃Т 13910 гена лактази
Get PDFУ статті приведені результати обстеження 103 дітей, з діагнозом ротавірусної інфекції. Вивчено та проаналізовано перебіг ротавірусної інфекції в залежності від встановленого генотипу поліморфізму С>Т в позиції 13910 гена лактази (LСT). Встановлено, що найважчий перебіг даної інфекції асоціюється з генотипами, які відповідають за непереносимість лактози С/С-13910 та С/Т-13910
Evidence of Still-Ongoing Convergence Evolution of the Lactase Persistence T-13910 Alleles in Humans
No full textA single-nucleotide variant, C/T-13910, located 14 kb upstream of the lactase gene (LCT), has been shown to be completely correlated with lactase persistence (LP) in northern Europeans. Here, we analyzed the background of the alleles carrying the critical variant in 1,611 DNA samples from 37 populations. Our data show that the T-13910 variant is found on two different, highly divergent haplotype backgrounds in the global populations. The first is the most common LP haplotype (LP H98) present in all populations analyzed, whereas the others (LP H8–H12), which originate from the same ancestral allelic haplotype, are found in geographically restricted populations living west of the Urals and north of the Caucasus. The global distribution pattern of LP T-13910 H98 supports the Caucasian origin of this allele. Age estimates based on different mathematical models show that the common LP T-13910 H98 allele (∼5,000–12,000 years old) is relatively older than the other geographically restricted LP alleles (∼1,400–3,000 years old). Our data about global allelic haplotypes of the lactose-tolerance variant imply that the T-13910 allele has been independently introduced more than once and that there is a still-ongoing process of convergent evolution of the LP alleles in humans
Treatment of lactase deficiency in children’s obesity with genotype C/C 13910 of lactase gene
Get PDFIntroduction: Excess lactose in the diet of modern man causes the development of not only lactase deficiency, but it can be a factor that contributes to obesity.
The aim: To study associations between obesity and genotype C/C 13910 of lactase gene (LCT) in children, to investigate the effectiveness of treatment using drug exogenous
lactase and a low-lactose diet.
Materials and methods: genotyping of lactase gene by real-time polymerase chain reaction, determining the level of lactose maldigestion by hydrogen breath test (HBT),
estimating the insulin resistance with the HOMA-IR index in 70 obese children and 40 healthy children 6 - 18 years. Obese children with genotype C/C 13910 and lactose
maldigestion (n=40) were randomized in two groups: children from group I (n=20) received an exogenous lactase preparation, and children from group II (n=20) - low-lactose diet.
Results: in obese children, the genotype C/C 13910 is 2 times more often than in healthy children. Obese children with genotype C/C 13910 have a significantly higher value
of HBT (32.8–39.8 ppm) compared to healthy children (p<0.05), and an increased value of the HOMA-IR index. After treatment, there was a significant decrease in HBT and
the HOMA-IR index in the two comparison groups.
Conclusions: signs of insulin resistance are observed in children with obesity, genotype C/C 13910 and lactose maldigestion. The use of exogenous lactase in the therapy or the
administration of a low-lactose diet cause approximately the same decrease in the HOMA-IR index
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