Balkan Journal of Medical Genetics最新文献_第10页

Do We Use Methylation of NFATC1 and FOS Genes As a Biomarker for Postmenopausal Osteoporosis? 我们是否使用NFATC1和FOS基因甲基化作为绝经后骨质疏松症的生物标志物?

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-03-23 eCollection Date: 2020-11-01 DOI: 10.2478/bjmg-2020-0021

R Kalkan, O Tosun

{"title":"Do We Use Methylation of NFATC1 and FOS Genes As a Biomarker for Postmenopausal Osteoporosis?","authors":"R Kalkan, O Tosun","doi":"10.2478/bjmg-2020-0021","DOIUrl":"https://doi.org/10.2478/bjmg-2020-0021","url":null,"abstract":"Genetic and epigenetic factors have an important role during the development of osteoporosis. Receptor activator of nuclear factor-κ B (NF-κB) (RANK)/receptor activator of NF-κB ligand (RANKL) pathway is important for the bone remodeling, and NFATC1 and FOS are the downtargets of this pathway. Here, we report methylation status of NFATC1 and FOS genes in post- and premenopausal women. In this study, 30 premenopausal and 35 postmenopausal women were included. Methylation sensitive-high resolution melting (MS-HRM) analysis was used for identification of NFATC1 and FOS genes methylation. The NFATC1 gene was methylated in 11 of the 35 postmenopausal women, and the FOS gene was methylated in six of the postmenopausal women (p >0.005). Here, we found statistically significant association between unmethylation of the NFATC1 gene and postmenopausal status. This result explains the epigenetic regulation of osteoclasts during the menopausal transition, and for the first time, our results can be used for epigenetic explanation of postmenopausal osteoporosis in the literature. However, the limited number of studies in this field makes our results crucial. Our results showed great value of epigenetic profiles of postmenopausal women.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2021-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9f/6e/bjmg-23-035.PMC8009562.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25558542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Bilateral Renal Angiomyolipomas and Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex: a Case Report and Review of The Literature. 双侧肾血管平滑肌脂肪瘤和室管膜下巨细胞星形细胞瘤合并结节性硬化症:1例报告及文献复习。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-03-23 eCollection Date: 2020-11-01 DOI: 10.2478/bjmg-2020-0017

I Rambabova Bushljetik, M Lazareska, I Barbov, O Stankov, V Filipce, G Spasovski

{"title":"Bilateral Renal Angiomyolipomas and Subependymal Giant Cell Astrocytoma Associated with Tuberous Sclerosis Complex: a Case Report and Review of The Literature.","authors":"I Rambabova Bushljetik, M Lazareska, I Barbov, O Stankov, V Filipce, G Spasovski","doi":"10.2478/bjmg-2020-0017","DOIUrl":"https://doi.org/10.2478/bjmg-2020-0017","url":null,"abstract":"Tuberous sclerosis complex (TSC) is an autosomal-dominant multi system disorder. The genetic basis of the disorder is mutations in the TSC1 or TSC2 gene, which leads to over activation of the mammalian target of rapamycin (mTOR) protein complex and results in development of benign tumors in different body systems such as brain, skin, lungs and kidney. The mTOR inhibitors are presently the main treatment option for patients with TSC. We here report a 21-year female patient with large bilateral angiomyolipoma (AML) in both kidneys with longest diameter more than 12.3 cm and subependymal giant cell astrocytoma (SEGA). Treatment with everolimus (EVE) was initiated at a dose of 10.0 mg/day and continued during the following 3 years. Magnetic resonance imaging (MRI) was performed before treatment with everolimus was initiated, and consequently at 12 and 36 months for follow-up of the efficacy of the treatment. After 3 years, the total size of largest AML decreased by ~24.0% in the longest diameter. A reduction of the total size of SEGA was also observed. The most common adverse effect of treatment was stomatitis grades 3 to 4 and one febrile episode associated with skin rash that required a reduced dose of EVE. In conclusion, the everolimus treatment improved even such a large renal AML and the effect persisted during the long-term administration with a small number of adverse effects. A positive effect was observed on the brain tumor as well.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2021-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/96/c7/bjmg-23-093.PMC8009567.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25558500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Two Novel CEBPA Mutations in a Turkish Patient with Acute Myeloid Leukemia. 两种新的CEBPA突变在土耳其急性髓性白血病患者。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-03-23 eCollection Date: 2020-11-01 DOI: 10.2478/bjmg-2020-0024

P E Tokgun, M T Alay, S Atli Tekin, N Güler, O Tokgun, A Demiray, N Karagenc, T Durak, B Celik, H Akca

引用次数: 1

Investigation of The Relationship of TNFRSF11A Gene Polymorphisms with Breast Cancer Development and Metastasis Risk in Patients with BRCA1 Or BRCA2 Pathogenic Variants Living in The Trakya Region of Turkey. 土耳其Trakya地区BRCA1或BRCA2致病变异患者TNFRSF11A基因多态性与乳腺癌发展和转移风险的关系研究

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-03-23 eCollection Date: 2020-11-01 DOI: 10.2478/bjmg-2020-0016

K Özdemir, H Gürkan, S Demir, E Atli, Y Özen, A Sezer, N Tunçbilek, I Çicin

{"title":"Investigation of The Relationship of TNFRSF11A Gene Polymorphisms with Breast Cancer Development and Metastasis Risk in Patients with BRCA1 Or BRCA2 Pathogenic Variants Living in The Trakya Region of Turkey.","authors":"K Özdemir, H Gürkan, S Demir, E Atli, Y Özen, A Sezer, N Tunçbilek, I Çicin","doi":"10.2478/bjmg-2020-0016","DOIUrl":"https://doi.org/10.2478/bjmg-2020-0016","url":null,"abstract":"Modifying genes play an exclusive role in the genetic regulation of the risk of breast cancer development in women with a pathogenic variation of BRCA1 or BRCA2. Therefore, it has been suggested that TNFRSF11A, which is among those modifying genes present in breast cancer development, may have a significant role in patients with positive BRCA1 or BRCA2 variations. In our study, we investigated the probable effects of single nucleotide polymorphisms (SNPs) in the TNFRSF11A gene, such as rs4485469, rs9646629, rs34739845, rs17069904, rs 884205, rs4941129 on the risk of breast cancer in patients with BRCA1 or BRCA2 variations. A total of 23 breast cancer patients with pathogenic variations in the BRCA1 or BRCA2 genes, 28 patients with no pathogenic variations in the BRCA1 or BRCA2 genes, and 55 healthy women as a control group, were included in this study. The SNPs were determined with allelic discrimination analysis through the real-time polymerase chain reaction (qPCR) method. There was no statistically significant difference between the SNPs of the TNFRSF11A gene rs4485469, rs9646629, rs34739845, rs17069904, rs884205, rs4941129 and metastasis, estrogen receptor, progesterone receptor and CerB2 receptor positivity between patient and control group (p >0.05). However, the rs4485469 SNP was found to be borderline significant between the patient groups with and without BRCA1 or BRCA2 mutations (p = 0.059). In patients with BRCA1 or BRCA2 pathogenic variations living in the Trakya region of Turkey, we could not determine the relationship between TNFRSF11 SNPs with breast cancer risk.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2021-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/dd/9d/bjmg-23-049.PMC8009568.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25558544","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pros and Cons for Fluorescent in Situ Hybridization, Karyotyping and Next Generation Sequencing for Diagnosis and Follow-up of Multiple Myeloma. 荧光原位杂交、核型和下一代测序在多发性骨髓瘤诊断和随访中的利弊。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2021-03-23 eCollection Date: 2020-11-01 DOI: 10.2478/bjmg-2020-0020

E Ikbal Atli, H Gurkan, H Onur Kirkizlar, E Atli, S Demir, S Yalcintepe, R Kalkan, A M Demir

{"title":"Pros and Cons for Fluorescent in Situ Hybridization, Karyotyping and Next Generation Sequencing for Diagnosis and Follow-up of Multiple Myeloma.","authors":"E Ikbal Atli, H Gurkan, H Onur Kirkizlar, E Atli, S Demir, S Yalcintepe, R Kalkan, A M Demir","doi":"10.2478/bjmg-2020-0020","DOIUrl":"https://doi.org/10.2478/bjmg-2020-0020","url":null,"abstract":"Multiple myeloma (MM) is one of the plasma cell-related hematological malignancies exceeding 10.0% of all marrow cells, and they make a paraprotein that is a marker of the disease. Myeloma is one of the most common types of hematological malignancies in humans. Genetic bio-markers have been used for prognostic markers in patients diagnosed with MM. The genetic and genomic changes have been identified using karyotyping, fluorescent in situ hybridization (FISH), next generation sequencing (NGS), specifically whole-genome sequencing or exome sequencing. Circulatory plasma cells, circulating free DNA (cfD-NA) and microRNAs (miRNAs) comprised in liquid biopsy are potentially used in diagnosis/prognosis of MM. In this study, we analyzed and compared results of karyo-typing, FISH and NGS in 35 MM cases. Diagnostic strategies are expanding rapidly and newly developed NGS-based testing may help the understanding of the complexities of genetic alterations in karyotypically normal cases.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2021-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ea/b3/bjmg-23-059.PMC8009570.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25558545","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Expression Levels of MicroRNAs Associated with T and B Cell Differentiation/stimulation in Ankylosing Spondylitis. 强直性脊柱炎中与T细胞和B细胞分化/刺激相关的microrna表达水平

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2020-08-26 eCollection Date: 2020-06-01 DOI: 10.2478/bjmg-2020-0006

A Türkyilmaz, P Ata, F Akbaş, İ Yağci

{"title":"The Expression Levels of MicroRNAs Associated with T and B Cell Differentiation/stimulation in Ankylosing Spondylitis.","authors":"A Türkyilmaz, P Ata, F Akbaş, İ Yağci","doi":"10.2478/bjmg-2020-0006","DOIUrl":"https://doi.org/10.2478/bjmg-2020-0006","url":null,"abstract":"Spondyloarthropathies (SpAs), are a group of chronic inflammatory diseases with a number of genetic, physiopathological, clinical and radiological features. Ankylosing spondylitis (AS) is the most common type of spondylo-arthropathies, and >90.0% of patients with ankylosing spondylitis are human leukocyte antigen-B27 (HLA-B2 7)-positive. In recent years, non-HLA genetic factors have been reported to have an effect on ankylosing spondylitis. MicroRNAs (miRNAs), are endogenous non coding RNA molecules containing 18-23 nucleotides that play a role in the post-transcriptional regulation of gene expression. In this study, we aimed to determine the expression levels of miRNAs associated with T- and B-cell differentiation/stimulation in peripheral blood mononuclear cells and their relationship with the etiology of the AS in patients and healthy controls. In a molecular study, peripheral blood mononuclear cell isolation, and total RNA isolation were performed first. In the second step, cDNA synthesis and quantitative real-time PCR (qPCR) expression analysis were completed. Ultimately, in the patient and control group, the expression levels of miR-142-5p and miR-143 were found to be significantly different (p <0.05). According to current knowledge, miR-142-5p andmiR-143 expressions were found to be important for those diseases that share similar etiology with AS. We suggest that miR-142-5p and miR-143 may play a role in the pathogenesis, especially miR- 142-5p may be a potential biomarker and a target molecule for the treatment.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2020-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e6/63/bjmg-23-025.PMC7474224.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38402663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

β-Elemene Inhibits the Proliferation and Migration of Human Glioblastoma Cell Lines via Suppressing Ring Finger Protein 135. β-榄香烯通过抑制环指蛋白135抑制人胶质母细胞瘤细胞系的增殖和迁移

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2020-08-26 eCollection Date: 2020-06-01 DOI: 10.2478/bjmg-2020-0002

M Alizada, J Li, H Aslami, D Yang, T Korchuganova, Y H Xu

{"title":"β-Elemene Inhibits the Proliferation and Migration of Human Glioblastoma Cell Lines via Suppressing Ring Finger Protein 135.","authors":"M Alizada, J Li, H Aslami, D Yang, T Korchuganova, Y H Xu","doi":"10.2478/bjmg-2020-0002","DOIUrl":"https://doi.org/10.2478/bjmg-2020-0002","url":null,"abstract":"β-Elemene is commonly used as an anti-cancer agent in different types of cancers and its effects on glioblastoma have been studied through different pathways. However, its effect through ring finger protein 135 (RNF135, OMIM 611358) (RNF135), which is upregulated in glioblastomas, has not yet been explored. The current study is focused on the effects of β-elemene on human glioblastoma cell lines U251, U118, A172 and U87 through RNF13 5. A cell counting kit-8 assay and wound healing assay have been utilized to test the proliferation and migration of the cells. Western blot and quantitative real-time-polymerase chain reaction (qRT-PCR) were used to evaluate the level of expression of RNF135. A model of nude mice was used to explore progression of the tumor in vivo. It was observed that increasing treatment time or dose of β-elemene remarkably decreased viability of the cells. The cells that were treated with β-elemene had a much lower speed of moving toward the gap in comparison to untreated cell lines. β-Elemene-treated cells showed a much lower level of expression of RNF135 mRNA than control groups (p <0.05) and the levels of RNF135 protein were lower in the cells treated with β-elemene than in control groups (p <0.05). Moreover, tumor progression in subcutaneous xenograft nude mice was delayed with the injection of β-elemene. Altogether, our findings suggest that β-elemene inhibits proliferation, migration and tumorigenicity of human glioblastoma cells through suppressing RNF135.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2020-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ec/de/bjmg-23-043.PMC7474225.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38402665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

Prenatal Diagnosis of a De Novo Partial Trisomy 6q and Partial Monosomy 18p Associated with Cephalocele: A Case Report. 产前诊断新生儿部分三体6q和部分单体18p伴头突出1例。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2020-08-26 eCollection Date: 2020-06-01 DOI: 10.2478/bjmg-2020-0014

A Karaman, B Karaman, A Çetinkaya, S Karaman, O Demirci

引用次数: 0

The Effects of O⁶-methyl Guanine DNA-methyl Transferase Promotor Methylation and CpG1, CpG2, CpG3 and CpG4 Methylation on Treatment Response and their Prognostic Significance in Patients with Glioblastoma. o6 -甲基鸟嘌呤dna -甲基转移酶启动子甲基化及CpG1、CpG2、CpG3和CpG4甲基化对胶质母细胞瘤患者治疗反应的影响及其预后意义

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2020-08-26 eCollection Date: 2020-06-01 DOI: 10.2478/bjmg-2020-0015

O G Yildiz, D Aslan, H Akalin, Y Erdem, O Canoz, A Aytekin, S Ozoner, M Dundar

{"title":"The Effects of O6-methyl Guanine DNA-methyl Transferase Promotor Methylation and CpG1, CpG2, CpG3 and CpG4 Methylation on Treatment Response and their Prognostic Significance in Patients with Glioblastoma.","authors":"O G Yildiz, D Aslan, H Akalin, Y Erdem, O Canoz, A Aytekin, S Ozoner, M Dundar","doi":"10.2478/bjmg-2020-0015","DOIUrl":"https://doi.org/10.2478/bjmg-2020-0015","url":null,"abstract":"This retrospective study examined the prognostic significance and treatment effect of promoter methylation of O6- methyl guanine methyl transferase (MGMT) and meth-ylation of CpG 1, CpG2, CpG3 and CpG4 in glioblastoma (GB) patients received postoperative radiotherapy (PORT), with or without adjuvant temozolomide (TMZ). One hundred patients with GB who received PORT with concomitant TMZ plus adjuvant TMZ or PORT alone, were included. The MGMT promoter methylation of CpG1, CpG2, CpG3 and CpG4 islands were examined. Overall, MGMT-methylation emerged as a significant prognostic factor for better overall survival (OS) and progression-free survival (PFS) [odds ratio (OR): 0.609, 95% confidence interval (95% CI): 0.395-0.939, p = 0.02; OR: 0.662,95% CI: 0.430-1019, p = 0.5, respectively]. The methylation of each CpG1, CpG2, CpG3 and CpG4 islands was found to have no significant effects on OS and the methylation of each CpGl, CpG2 and CpG4 islands had no significant effect on PFS (p <0.05 for all). On the other hand, the methylation of CpG3 had a positive prognostic effect on PFS (OR: 2.1, 95% CI: 0.99-4.67, p = 0.04). In the group that only received radiotherapy (RT), CpG1 and CpC3 methylations were found to have a positive prognostic significance in terms of PFS (OR: 266, 95% CI: 1.05-6.75, p -0.03 for CpG1; OR: 2.4, 95% CI: 1.01-5.92, p = 0.04 for CpG3). The MGMT promoter methylation represents an important biomarker for predicting response to therapy. Individual islands, particularly CpG3, deserves further investigation as a prognostic marker. Further studies need to be done with larger sample sizes to clarify the results.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2020-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/af/bjmg-23-033.PMC7474218.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38402664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Implication of VDR Rs7975232 and FCGR2A Rs1801274 Gene Polymorphisms in the Risk and the Prognosis of autoimmune Thyroid Diseases in the Tunisian Population. VDR Rs7975232和FCGR2A Rs1801274基因多态性在突尼斯人群自身免疫性甲状腺疾病风险和预后中的意义

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2020-08-26 eCollection Date: 2020-06-01 DOI: 10.2478/bjmg-2020-0011

S Mestiri, I Zaaber, I Nasr, H Marmouch

{"title":"Implication of VDR Rs7975232 and FCGR2A Rs1801274 Gene Polymorphisms in the Risk and the Prognosis of autoimmune Thyroid Diseases in the Tunisian Population.","authors":"S Mestiri, I Zaaber, I Nasr, H Marmouch","doi":"10.2478/bjmg-2020-0011","DOIUrl":"https://doi.org/10.2478/bjmg-2020-0011","url":null,"abstract":"Hashimoto's thyroiditis (HT) and Graves' disease (GD) are autoimmune thyroid diseases (AITD) that cause hypothyroidism and hyperthyroidism, respectively. The vitamin D receptor (VDR) and the Fey receptor IIA (FcγRIIA), are implicated in the etiology of AITD. This study was conducted to examine the implication of VDR rs7975232 and FCGR2A rs 1801274 variations in the susceptibility and the prognosis of AITD in the Tunisian population. The rs7975232 and rs1801274 (R131H) polymorphisms were analyzed in 162 controls and 162 AITD patients (106 HT and 56 GD) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and amplification of refractory mutation system-PCR (ARMS-PCR), respectively. No significant difference was demonstrated for the rs7975232 between patients and controls. However, a significant association was shown between the rs1801274 polymorphism and AITD or HT in the dominant (p = 0.03 or p = 0.01), codominant (p = 0.019 or p = 0.026) and allelic (p = 0.011 or p = 0.012) models. The rs7975232 was associated with the absence or the presence of anti-thyroglobulin antibody, with the age of AITD and GD patients during the first diagnosis (p = 0.01 and p = 0.009, respectively) and with a high T4 level at the beginning of HT disease. However, the FCGR2A gene polymorphism was associated with a low T4 level at the beginning of GD disease. In conclusion, this study indicates that only the FCGR2A variation could be related to AITD and HT susceptibility and that VDR and FCGR2A gene variations constitute factors to prognosticate the severity of AITD, HT and GD.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2020-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/01/c3/bjmg-23-069.PMC7474221.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38402550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2