Mir-125a rs12976445 is Associated with Susceptibility to Thyroid Cancer: A Case-control Study

Abstract Background: Thyroid cancer is the fifth communal cancer type in females and its occurrence rate continues to rise rapidly worldwide. Latest data demonstrated mir-125 is down-regulated in various cancer types. Methods: a case-control (179 cases, 165 controls) study in order to explore the association of mir-125 rs12976445 with the risk of thyroid cancer in the Iranian population was performed. In order to investigate rs12976445 C/T polymorphisms, polymerase chain reaction restriction–fragment length polymorphism (PCR–RFLP) was done. Logistic regression analyses were done to find the association of mir-125 rs12976445 C/T polymorphisms with thyroid cancer and its stages. Results: The genotype frequencies for patients was [(CC: 81(45.2%), CT: 75(41.9%), TT: 23 (12.9%)], and for controls was [(CC: 100 (60.1%), CT: 53(32.2%), TT: 12 (6.7%)]. The T allele distribution was significantly altered between patients and controls (P=0.002) with the odds ratio of 1.68. In the co-dominant model CC genotype was set as reference and compared with CT, and TT genotypes. In the dominant model, there was a significant difference between CC vs CT genotypes (adjusted OR = 1.69, 95% CI= 1-2.8, P = 0.026), and slightly significant differences between CC vs TT genotypes (adjusted OR = 2.18, 95% CI= 1-4.7, P = 0.047). we compared CT/TT genotype to the reference genotype (CC) and found a highly significant difference (adjusted OR = 1.78, 95% CI= 1.15-2.74, P = 0. 0.009).Conclusion: as the first study, our findings suggest that miR-125a rs12976445 is a possible prognostic biomarker for thyroid cancer patients.

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Sarcocystis species in bovine carcasses from a Belgian abattoir: a cross-sectional study

Parasites & Vectors ◽

10.1186/s13071-021-04788-1 ◽

2021 ◽

Vol 14 (1) ◽

Author(s):

Hang Zeng ◽

Inge Van Damme ◽

Teresia Wanjiru Kabi ◽

Barbara Šoba ◽

Sarah Gabriël

Keyword(s):

Safety Issue ◽

Cross Sectional Study ◽

Occurrence Rate ◽

Sarcocystis Species ◽

Cross Sectional ◽

Significant Difference ◽

Pcr Rflp ◽

Prevalent Species ◽

Potential Food ◽

Effect Of Age

Abstract Background Sarcocystis species are obligatorily heteroxenous parasites, of which some are zoonotic, representing a public health and economic impact. This study investigated the occurrence of Sarcocystis spp. in cattle sampled from a Belgian slaughterhouse. Methods A total of 200 carcasses were included in the study, sampled during 10 sampling days. The sedimentation method was applied to isolate the sarcocysts from both heart and diaphragm muscles collected from each carcass. Multiplex PCR, PCR–RFLP as well as cox1 gene sequencing techniques were applied serially on collected sarcocysts for species identification. Results Sarcocystis spp. were detected in 64% (128/200; 95% CI 57–71%) of the sampled carcasses. Female dairy cattle presented the highest Sarcocystis occurrence rate (91%) as well as the highest Sarcocystis species diversity compared to female beef and male beef. Sarcocystis spp. were detected more often in the heart muscles than in the diaphragm among female beef (p < 0.001) and dairy carcasses (p = 0.001), while in male carcasses no significant difference was observed (p = 0.763). The effect of age was not significant in male carcasses (p = 0.872), while the odds of finding sarcocysts significantly increased with age (p = 0.003) within both types of female carcasses. S. cruzi was the most prevalent species and was found in 56.5% (113/200) of the carcasses, followed by S. hominis (21.0%, 42/200), S. bovifelis (12.5%, 25/200), S. bovini (2.0%, 4/200), S. hirsuta (1.5%, 3/200) and S. heydorni (0.5%, 1/200). Six different species were detected in the diaphragm, while only two species were recovered from the heart. S. cruzi was the most prevalent species in heart, while in the diaphragm, this was S. hominis. Conclusions The detection of S. hominis in 21% of the sampled carcasses presents a potential food safety issue, and further research is warranted into controlling this infection. Graphic Abstract

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PCR-RFLP Polymorphism of Growth Hormone Gene and Its Association with Growth and Morphometric Traits in Ganjam and Baigani Goats of Odisha

Indian Journal of Animal Research ◽

10.18805/ijar.b-3971 ◽

2020 ◽

Author(s):

D. K. Karna ◽

A. Aradhana ◽

G. D. Nayak ◽

N. Sahoo ◽

L. K. Sahoo ◽

...

Keyword(s):

Growth Hormone ◽

Genetic Variation ◽

Restriction Enzyme ◽

Gene Segment ◽

Growth Hormone Gene ◽

Morphometric Traits ◽

Exon 2 ◽

Genotype Frequencies ◽

Significant Difference ◽

Pcr Rflp

Background: Growth Hormone (GH) gene codes for the growth hormone, an anabolic hormone synthesized and secreted by the somatotroph cells of pituitary. Growth hormone influences many processes such as growth, lactation, reproduction and metabolism. Genetic variation in the gene are utilized as markers for selecting animals that are superior in terms growth, production and reproduction traits. Information available on the polymorphism of growth hormone gene of Ganjam and Baigani goats of Odisha is scanty. The current investigation was done to explore the genetic variation of this gene and its association with morphometric traits. Methods: Genetic polymorphism in exon 2 and 3 of Growth hormone gene in Ganjam goat and Baigani goat was explored with sample size of 100 goats for each. The goats belonged to three locations: Khallikote, Rambha, Chattrapur of Ganjam district. The goats were recorded for their body weights, morphometric traits and morphological traits. Genomic DNA was isolated, the target segment comprising exons 2 and 3 was amplified and PCR-RFLP was carried out using Hae III restriction enzyme. Genotypes were scored. Result: PCR of the locus resulted in 422 bp PCR product. PCR-RFLP using Hae III restriction enzyme yielded only two variants in both the populations. The variant A had only one restriction recognition site on the target gene segment yielding two bands with size of 366bp and 56bp whereas the variant B did not have any restriction site with single band of 422bp. Three genotypes AA, AB and BB were found in both the population. In both the population, the gene and genotype frequency were significantly deviated from the Hardy Weinberg Equilibrium frequency. There was a significant difference in the genotype frequencies of growth hormone gene between Ganjam and Baigani goats. The AB genotype had higher mean value for all morphometric traits than AA and BB genotype though the differences were not found to be significant.

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Longer Time to Reach Excellent Response to Treatment in Familial Versus Sporadic Non-medullary Thyroid Cancer (NMTC): A Matched Case-Control Study

International Journal of Endocrinology and Metabolism ◽

10.5812/ijem.108781 ◽

2021 ◽

Vol 19 (2) ◽

Author(s):

Susan Shafiei ◽

Mehrdokht Sadrolodabaei ◽

Atena Aghaei ◽

Narjess Ayati ◽

Samira Zare Namdar ◽

...

Keyword(s):

Thyroid Cancer ◽

Case Control Study ◽

Case Control ◽

Response To Treatment ◽

Control Groups ◽

Excellent Response ◽

Significant Difference ◽

Matched Case ◽

Matched Case Control Study ◽

Control Study

Background: Familial NMTCs are supposed to be more aggressive and require more frequent treatment compared to non-familial thyroid cancer. Objectives: This matched case-control study aimed to compare the response to treatment between the matched case-control groups of familial and sporadic NMTC. Methods: This is a retrospective study in patients with familial NMTC (at least one other first-degree relative involved) who were treated with surgery, followed by radio-iodine therapy (RIT) without consideration of its familial origin. Response to treatment was compared between familial NMTC and age, sex, and TNM stage-matched non-familial NMTC (control group). Response to treatment was assessed one and two years after RIT, and time to excellent response was identified. Results: Out of 2,944 NMTC patients, 81 (2.75%) patients had familial NMTC. We compared 66 patients with familial NMTC and 66 sporadic NMTC patients. There was no significant difference in first thyroglobulin, initial and accumulative iodine dose, and additional treatments (additional surgery and radiotherapy) between patients and controls. Although no significant difference was noted in one and two years’ responses to treatment between the case and control groups, familial NMTC patients required more time to achieve excellent response (26.7 ± 24.9 versus 15.9 ± 9.0 months, P = 0.01). No significant difference was noted between familial NMTC patients with two or more than two involved relatives. Conclusions: Our study showed that if patients with familial NMTCs were treated in the same way as non-familial patients, the time to excellent response would be significantly longer, even when they have only one other involved relative.

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Thyroid cancer surgery in the elderly: a comparative study of 1176 patients

International Surgery Journal ◽

10.18203/2349-2902.isj20182210 ◽

2018 ◽

Vol 5 (6) ◽

pp. 2000

Author(s):

Omer Parlak ◽

Fatma Dilek Dellal ◽

Serap Ulusoy ◽

Ibrahim Kılınc

Keyword(s):

Thyroid Cancer ◽

Elderly Patients ◽

Geriatric Patients ◽

The Elderly ◽

Cancer Surgery ◽

Cancer Type ◽

Capsular Invasion ◽

Significant Difference ◽

Surgery In The Elderly ◽

Male Patients

Background: The aim of this study is to compare the results of patients who were treated with two groups (under 65 years and over 65 years) of thyroid cancer.Methods: A retrospective review of 1176 patients undergoing thyroid cancer surgery between January 2007 and December 2016 was performed. Patients were grouped as ≥65 (geriatric group) and <65 years (non-geriatric group).Results: A total of 139 patients (11.8%) were over 65 years of age and 1037 patients (88.2%) were under 65 years of age. There were 104 female (74.8%) and 35 (25.2%) male patients in the geriatric group. In the non-geriatric group, 917 (78%) patients were female and 259 (22%) were male (p = 0.39). FNAB showed a significant increase in malignant potential in the elderly (p = 0.005). In our series, malignant differences between geriatric and non-geriatric groups are less pronounced among thyroid carcinomas other than capsular invasion. Although there was no significant difference in histopathologic examination, malignant cytology was higher in the elderly patients. There was no significant difference between the young and elderly patients in terms of complication.Conclusions: In this study, papillary Thyroid Ca (PTC) was found to be the most common type of cancer and we could not find any difference in cancer type distribution in geriatric and non-geriatric patients. Total/near total thyroidectomy in experienced hands is safe for elderly patients. There is no difference in terms of complication.

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A polymorphic marker Val109Asp in the omentin gene are associated with abdominal obesity in the Kyrgyz population

Problems of Endocrinology ◽

10.14341/probl20166234-8 ◽

2016 ◽

Vol 62 (3) ◽

pp. 4-8

Author(s):

Zhainagul T. Isakova ◽

Elnura T. Talaibekova ◽

Diana A. Asambaeva ◽

Alina S. Kerimkulova ◽

Olga S. Lunegova ◽

...

Keyword(s):

Abdominal Obesity ◽

Polymorphic Marker ◽

Genotype Frequencies ◽

Homozygous Genotype ◽

Increased Risk ◽

Significant Difference ◽

Pcr Rflp ◽

And Control ◽

Male Subjects ◽

Kyrgyz Population

Aim — in this study, we investigated whether polymorphisms Val109Asp in the omentin gene are associated with abdominal obesity in the Kyrgyz population.Material and methods. We genotyped 297 nonrelated adults Kyrgyz individuals. 127 patients (male — 46, female — 81, average age — 53±7,0) with abdominal obesity (elevated waist circumferences ≥102 cm for male subjects and ≥ 88 cm for female) and 170 non-obese control subjects (male — 107, female — 63, average age 51±9). Val109Asp polymorphisms analysis in the omentin gene were performed by PCR-RFLP method.Results. There were significant differences in genotype distributions of rs2274907 between the obese and control cohorts (p=0.01). Frequencies of Asp109Asp, Val109Asp and Val109Val genotypes among patients with abdominal obesity were 48, 40 and 12%, respectively, that differed from those among controls (Asp109Asp — 53%, Val109Aspl — 43% and Val109Val — 4%); there was significant difference in genotype frequencies between two groups (χ²=6,29; p=0,043). Homozygous genotype Val109Val was more frequent in the obese than non-obese group. The genotype Val109Val of omentin gene is associated with a high risk of developing abdominal obesity in the Kyrgyz population (OR=3,12; 95% CI 1,23—7,90). Homozygous genotype Asp109Asp, reduces the risk of developing abdominal obesity (OR=0,82; 95% CI 0,53—1,30). The allelic variants of the polymorphisms Val109Asp in the omentin gene were not found to be associated with abdominal obesity.Conclusion. There is significant association between Val109Asp polymorphism in omentin gene and abdominal obesity in the Kyrgyz Population. An increased risk of abdominal obesity associated with homozygous genotype — Val109Val in omentin gene.

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Genetic analysis of pharmacogenomic VIP variants in the Wa population from Yunnan Province of China

BMC Genomic Data ◽

10.1186/s12863-021-00999-8 ◽

2021 ◽

Vol 22 (1) ◽

Author(s):

Dandan Li ◽

Linna Peng ◽

Shishi Xing ◽

Chunjuan He ◽

Tianbo Jin

Keyword(s):

Ethnic Group ◽

Theoretical Basis ◽

Yunnan Province ◽

Drug Response ◽

The Other ◽

Allele Distribution ◽

Genotype Frequencies ◽

Study Results ◽

Significant Difference ◽

The Future

Abstract Background The variation of drug responses and target does among individuals is mostly determined by genes. With the development of pharmacogenetics and pharmacogenomics, the differences in drug response between different races seem to be mainly caused by the genetic diversity of pharmacodynamics and pharmacokinetics genes. Very important pharmacogenetic (VIP) variants mean that genes or variants play important and vital roles in drug response, which have been listed in pharmacogenomics databases, such as Pharmacogenomics Knowledge Base (PharmGKB). The information of Chinese ethnic minorities such as the Wa ethnic group is scarce. This study aimed to uncover the significantly different loci in the Wa population in Yunnan Province of China from the perspective of pharmacogenomics, to provide a theoretical basis for the future medication guidance, and to ultimately achieve the best treatment in the future. Results In this study, we recruited 200 unrelated healthy Wa adults from the Yunnan province of China, selected 52 VIP variants from the PharmGKB for genotyping. We also compared the genotype frequency and allele distribution of VIP variants between Wa population and the other 26 populations from the 1000 Genomes Project (http://www.1000Genomes.org/). Next, χ2 test was used to determine the significant points between these populations. The study results showed that compared with the other 26 population groups, five variants rs776746 (CYP3A5), rs4291 (ACE), rs3093105 (CYP4F2), rs1051298 (SLC19A1), and rs1065852 (CYP2D6) had higher frequencies in the Wa population. The genotype frequencies rs4291-TA, rs3093105-CA, rs1051298-AG and rs1065852-GA were higher than those of the other populations, and the allele distributions of rs4291-T and rs3093105-C were significantly different. Additionally, the difference between the Wa ethnic group and East Asian populations, such as CDX, CHB, and CHS, was the smallest. Conclusions Our research results show that there is a significant difference in the distribution of VIP variants between the Wa ethnic group and the other 26 populations. The study results will have an effect on supplementing the pharmacogenomics information for the Wa population and providing a theoretical basis for individualised medication for the Wa population.

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Pan-Cancer Analysis Reveals Distinct Metabolic Reprogramming in Different Epithelial–Mesenchymal Transition Activity States

Cancers ◽

10.3390/cancers13081778 ◽

2021 ◽

Vol 13 (8) ◽

pp. 1778

Author(s):

Ji-Yong Sung ◽

Jae-Ho Cheong

Keyword(s):

Energy Metabolism ◽

Epithelial Mesenchymal Transition ◽

Metabolic Reprogramming ◽

The Cancer Genome Atlas ◽

Cancer Type ◽

Mesenchymal Transition ◽

Significant Difference ◽

Cancer Types ◽

Using Data ◽

Patient Prognosis

Epithelial–mesenchymal transition (EMT) is critical for cancer development, invasion, and metastasis. Its activity influences metabolic reprogramming, tumor aggressiveness, and patient survival. Abnormal tumor metabolism has been identified as a cancer hallmark and is considered a potential therapeutic target. We profiled distinct metabolic signatures by EMT activity using data from 9452 transcriptomes across 31 different cancer types from The Cancer Genome Atlas. Our results demonstrated that ~80 to 90% of cancer types had high carbohydrate and energy metabolism, which were associated with the high EMT group. Notably, among the distinct EMT activities, metabolic reprogramming in different immune microenvironments was correlated with patient prognosis. Nine cancer types showed a significant difference in survival with the presence of high EMT activity. Stomach cancer showed elevated energy metabolism and was associated with an unfavorable prognosis (p < 0.0068) coupled with high expression of CHST14, indicating that it may serve as a potential drug target. Our analyses highlight the prevalence of cancer type-dependent EMT and metabolic reprogramming activities and identified metabolism-associated genes that may serve as potential therapeutic targets.

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The association between TNP2 gene polymorphisms and Iranian infertile men with varicocele: A case-control study

International Journal of Reproductive BioMedicine ◽

10.18502/ijrm.v17i8.4821 ◽

2019 ◽

Author(s):

Mohammad Mehdi Heidari ◽

Amirhossein Danafar ◽

Fahime Moezzi ◽

Mehri Khatami ◽

Ali Reza Talebi

Keyword(s):

Case Control Study ◽

Case Control ◽

Recessive Model ◽

Dominant Model ◽

Sperm Dna Damage ◽

Sperm Dna ◽

Significant Difference ◽

High Conservation ◽

Control Study

Background: Numerous researches have provided great evidence that revealed the relationship between varicocele and sperm DNA damage. Objective: Because of the crucial role of nuclear transition proteins (TPs) in sperm DNA condensation and integrity, this case-control study was designed to study TNP2 gene nucleotide variations in Iranian patients with varicocele. Materials and Methods: PCR-SSCP and DNA sequencing were used to search for mutations in exons 1 & 2 of the TNP2 gene in 156 infertile patients with varicocele and 150 fertile men. Results: The results of sequencing showed three variants at positions c.301C > T (p.R101C), c.391C > T (p.R131 W), and g.IVS1-26G >C (rs8043625) of TNP2 gene. It was found that varicocele risk in men who have the CC genotype of g.IVS1-26G >C SNP is higher than those who don’t have these genotypes (according to Co-dominant model, Dominant model, Recessive model, and Over-dominant model). The haplotype-based analysis showed that (C/C/T) and (C/T/T) haplotypes were a risk factor of in patients with varicocele compared to controls (OR = 3.278, p = 0.000 and OR= 9.304, p = 0.038, respectively). Conclusion: Because of the significant difference in the genotype and allele frequencies of g.IVS1-26G >C SNP in the intronic region of TNP2 in patients with varicocele compared with controls and also because of the high conservation of this SNP position during evolution, this SNP may be involved in some important processes associated with the expression of this gene like mRNA splicing, but the exact mechanism is not clear.

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Impact of Genetic Polymorphism of Sulpha Transferase Genes (SULT1A) Genes on the Risk of Females with Breast Cancer in Jordan

10.20944/preprints201710.0050.v2 ◽

2018 ◽

Author(s):

Mona Bustami ◽

Abdel-Ellah Al-Shudifat ◽

Nagham Hussein ◽

Mohannad Yacoub ◽

Eiad Atwa ◽

...

Keyword(s):

Breast Cancer ◽

Sanger Sequencing ◽

Breast Cancer Incidence ◽

Control Groups ◽

Allele Distribution ◽

Significant Difference ◽

Pcr Rflp ◽

Endogenous Compounds ◽

And Control ◽

The Impact

Sulfotransferases (SULTs) family plays a significant role in the biotransformation of a variety of xenobiotics and endogenous compounds by which carcinogenesis and mutagenicity of different malignancies are increasingly affected. Recent data identified various genetically polymorphic SULTs enzymes with significant variations in the enzyme activity. This study aimed to investigate the impact of SULT1A1 gene polymorphism and and its potential risk on females with breast cancer in Jordan using a PCR-RFLP and Sanger Sequencing methods. The analysis showed that 24.7% of the patients and 25.3% of the controls were homozygous for the SULT1A1*1 allele (SULT1A1*1/SULT1A1*1) compared to 8.8% and 5.7% homozygous for the SULT1A1*2 allele (SULT1A1*2/SULT1A1*2) for patients and controls respectively. Most of the patients and controls were heterozygous for SULT1A1*1 allele (SULT1A1*1/SULT1A1*2) with rates of 66.5% and 69.0% in patients and controls respectively. In addition, the frequencies of the mutant SULT1A1*2 allele were 0.42 and 0.4 in the patient and control groups respectively. No significant difference in genotype and allele distribution was noted between the breast cancer and control groups. The risk of breast cancer in individuals carrying the SULT1A1*2 allele was determined by combining the SULT1A1*1/SULT1A1*2 and ULT1A1*2/SULT1A1*2 genotypes. No association was observed between SULT1A1 polymorphism and breast cancer incidence (P = 0.63; OR, 0.93; 95% CI, 0.68–1.26). However, SULT1A1*2 allele was found to increase the risk of breast cancer by 1.26-fold.

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Association between the ACE insertion/deletion polymorphism and pterygium in Sardinian patients: a population based case–control study

BMJ Open ◽

10.1136/bmjopen-2014-005627 ◽

2014 ◽

Vol 4 (10) ◽

pp. e005627 ◽

Cited By ~ 5

Author(s):

Paolo Demurtas ◽

Germano Orrù ◽

Pierpaolo Coni ◽

Luigi Minerba ◽

Michela Corrias ◽

...

Keyword(s):

Case Control Study ◽

Population Based ◽

Case Control ◽

Control Group ◽

Genotype Frequencies ◽

Increased Risk ◽

Significant Difference ◽

Group A ◽

And Control ◽

Control Study

ObjectiveThe purpose of the study was to examine whether the insertion (I) and/or deletion (D) polymorphism of ACE confers susceptibility to primary pterygium in Sardinian patients in a case–control study.Methods and resultsPolymorphism genotyping was performed by nested PCR using genomic DNA extracted from the whole peripheral blood of participants with (n=251) and without (n=260) pterygium. DD, ID and II genotype frequencies were: 48%, 39% and 13%, respectively, for patients with pterygium, and 15%, 40% and 44%, respectively, for the control group. A statistically significant difference was found between the pterygium and control groups for the ACE I/D polymorphism (p<0.001). Moreover, a statistically significant difference was found between the DD and II groups (p<0.01; OR=10.49; 95% CI 6.18 to 17.79), DD+ID versus II group (p<0.01; OR=5.23; 95% CI 3.37 to 8.13) and DD versus ID groups (p<0.01; OR=3.21; 95% CI 2.04 to 5.04).ConclusionsStatistical analysis showed that the DD genotype is associated with an increased risk of developing pterygium, and with a good chance that the D allele may play an important role in the development of disease.

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