Online ISSN: 2515-8260

Keywords : Polymorphism

EGFR and CTNNB1 Gene Variants in Oral Squamous Cell Carcinoma and Fanconi Anemia Patients

Dinara Nemetova, Selçuk Daşdemir, Bora Başaran, Yavuz Uyar, Tülin Tiraje Celkan, Şahin Öğreden,Haydar Murat Yener ,Tunç Fışgın ,Günter Hafız ,Mehmet Güven Günver , Arzu Pınar Erdem , Zişan Asal Kılıç , Nevin Yalman

European Journal of Molecular & Clinical Medicine, 2022, Volume 9, Issue 7, Pages 929-937

Oral squamous cell carcinoma (OSCC) is the most common epithelial malignancy in the oral cavity. The risk of the development of OSCC is high in Fanconi anemia (FA) patients owing to the DNA repair deficiency in somatic cells. EGFR, and CTNNB1 genes are suggested to be effective in development of OSCC. EGFR has been reported to have higher expression in OSCC, there are limited studies of EGFR and CTNNB1 gene polymorphisms in the development of OSCC. Therefore, we aimed to investigate the potential connection between EGFR rs845561 and CTNNB1 rs3864004 gene polymorphisms, and OSCC and FA. We performed polymerase chain reaction (PCR)/sanger sequencing for detection of the variations in these regions. EGFR rs845561, and CTNNB1 rs3864004 gene variants were compared between OSCC patients, and controls, no significant difference was detected (P>0.05). The EGFR rs845561 C allele frequency was lower in OSCC patients who had lymh node metastasis (P= 0.001), a significant association was detected between the EGFR rs845561 T allele frequency, and tumor perineural invasion (P= 0.05) in OSCC patients. CTNNB1 rs3864004 A allele frequency was associated with increased tumor invasion in OSCC patients (P= 0.01).
The CTNNB1 rs3864004 G/G genotype was higher in FA patients compared with the levels in the control group however, the A allele frequency was found lower (p:0.049). EGFR rs845561 gene variant showed no statistically significant difference between FA and control groups (p>0.05). EGFR T allele frequency was detected higher in FA patients who develop OSCC (p:0.03). The EGFR rs845561, and CTNNB1 rs3864004 gene variants may be suggested to contribute to the development of OSCC however, further studies are required

Association of CYP3A4 and CYP3A5 Polymorphisms with Indian Breast Cancer Patients& Its Clinical Implications

Venkataramana Inagaluri, Prasad Rao K.V.S., Natukula Kirmani

European Journal of Molecular & Clinical Medicine, 2021, Volume 8, Issue 2, Pages 2829-2835

Introduction:  Polymorphisms of the different genes have been reported to be associated with a variety of cancers including breast cancer. CYP genes belongings to Cytochrome P450 (CYP450), have been implicated in various cancer formation and development due to their roles such as oxidative stress, activating procarcinogens, and inactivating anticancer drugs.
Objective: This study aimed to examine whether polymorphisms in the CYP3A4 and CYP3A5 genes affect the risk of developing breast cancer.
Results: CYP3A4*1B gene polymorphism revealed that in breast cancer patient group 96 had the *1A/*1A genotype  (64%), 39 (26%) had the *1A/*B genotype and 15 (10%) had the *1B/*B genotype. In the control group 131 (87%) had the *1A/*1A genotype, 16 (10.66%) had the *1A/*B genotype and 3 (2%) had the *1B/*B genotype. Concerning genotype distribution, a significant difference between the breast cancer patients and the controls was observed where p<0.05) The genotype frequency of the CYP3A5*3 *1/*1, *1/*3, and *3/*3 polymorphisms in breast cancer and healthy control group were analysed. Frequencies of CYP3A4*3 *1/*1, *1/*3 and *3/*3 genotypes were 67.3%, 24% and 8.7 % in breast cancer patients and 79.3%, 14% and 6.7% in the controls, respectively. The distribution of CYP3A5*3 *1/*3 genotypes was significantly associated with breast cancer patients when compared with controls.
Conclusion: In conclusion, the results of our study found a positive association between CYP 3A4*1B and CYP3A5*3 polymorphisms and predispositions to breast cancer risk.

Optimization Of Molecular- Genetic Methods For The Determination Of Resistance Markers Using Genotyping Of Actn3 And Ace Genes

Berdieva Dilnavoz Toshkan kizi; Bakieva Gulnoza Habibullayevna; Abdusattarova Sagdiana Sobitjanovna; professor Abdullaeva Muborak Makhmusovna; professor assistent Gazieva Zebunniso Yusubjanovna

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 10, Pages 67-74

Recently parents want their children to be busy with a particular kind of sport. Adults often decide on this issue, based on their own desires. But still, we must remember that, first of all, it is necessary to focus on the child's abilities and capabilities. Physical culture and sports are different things, and they pursue different goals: they are engaged in physical culture in order to strengthen their physical condition and be healthy, and sports are also for the sake of victories, achievements, and results. In humans, more than two hundred genes are known that are associated with endurance, speed and strength. Usually, the reason for differences (polymorphism) of genes is the replacement of individual nucleotides in the DNA molecule, leading to a change in the properties of the gene.
The main advantage of molecular genetic methods is that a person’s behavioral activity is shown to be hereditary, and early diagnosis reveals a highly informative assessment of the possibility of physical development. A distinctive feature of this diagnosis is the ability to identify hereditary trends, the development of factors of occupational diseases, determining the physical performance of a person and reducing the quality of his life.

The Effect of TNFα -308G/A Gene Polymorphism with Breast Cancer Risk in Iraqi Population

Anwar Abed Nasser Dhabaan

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 2, Pages 163-167

The study included two hundred and thirty samples of which 130 patients women of
breast cancer in Iraqi population,, their ages ranged from 29 to 71 year (ages mean 42.95
± 1.5) and 100 controls (healthy women), their ages ranged from 25 to 65 year (ages
mean 31.37 ± 1.9). We confined the frequency of TNF-α gene -308G/A polymorphism by
TARMS PCR technique (Tetra-amplification refractory mutation system-polymerase chain
reaction technique). Also, we determined the association of TNF-α gene -308G/A
polymorphism with breast cancer of Iraqi women population. Statistical results showed
significant difference in genotype frequency of TNF-α gene -308G/A polymorphism with
breast cancer women patients and control (healthy women). The A allele showed high
frequency in breast cancer patients comparison with control (healthy women) and present
with etiological fraction risk (EF) of breast cancer patients in Iraqi women, and its ratio
64.23% in patients while in control 50.50%. The G allele shows high frequency in control
comparison with breast cancer patients was 35.77% and 49.50% respectively, and
present related with protective fraction (PF) with breast cancer patients was (0,21.4). The
genotypes of AA and GG (homozygotes) shows high frequency in breast cancer patients
was 58.46% and 30% respectively, comparison with control was 16% and 15%
respectively, also AA and GG homozygotes genotypes showed relationship with
etiological fraction risk of breast cancer in women patients, while the GA heterozygote
genotype show high frequency in control (healthy) was 69% comparison with breast
cancer patients was 11.54%, and show related with preventive fraction of breast cancer
patients. Our findings demonstrate that the TNFα -308G/A gene polymorphism may
represent a risk factor for breast cancer development of patient’s women in Iraqi

Analysis of the role 1G / 2G polymorphism Analysis of the role 1G / 2G polymorphism in the MMP1 gene development and clinical course of cervical intraepithelial neoplasia

I.A. Kamilova; J.E. Pakhomova; D.K. Nadjmutdinova

European Journal of Molecular & Clinical Medicine, 2020, Volume 7, Issue 2, Pages 850-859

In the present work, the frequency of occurrence of polymorphic variants 1607 1G / 2G (rs 1799750) of the MMP1 gene encoding enzymes of collagen metabolism and its genotypes in patients with cervical intraepithelial neoplasia and healthy women in Tashkent was first investigated. A statistically significant association of 2G allele carriage with a risk of developing CIN (χ² = 15.4; P≤0.001) and unreliable with carriage of the heterozygous genotype 1G / 2G (χ² = 1.36; P≥0.243) were established. In the control group of patients, a statistically significant predominance of the 1G allele (χ² = 29.4; P≤0.001) and the homozygous genotype 1G / 1G (χ² = 19.6; P≤0.001) was found. The highest values of the carriage of the 2G allele and homozygous genotype 2G / 2G were found at CIN and at CIN ΙΙΙ. Thus, the study of polymorphism rs 1799750 of the MMP1 gene is promising for predicting the course of cervical intraepithelial neoplasia and can be used to form risk groups for the development of this pathology.
The frequency distribution of alleles and genotypes of the polymorphic marker rs1799750 of the MMP1 gene in patients with CIN did not correspond to the canonical Hardy-Weinberg distribution due to an increase in the frequencies of homozygous genotypes and a decrease in the frequency of the heterozygous genotype; in the control group, the frequency distribution of alleles and genotypes of the polymorphic marker rs 1799750 of the MMP1 gene corresponded to the canonical Hardy-Weinberg distribution.