Balkan Journal of Medical Genetics最新文献

{"title":"Two Brothers from Macedonia with Gitelman Syndrome.","authors":"A Janchevska,&nbsp;V Tasic,&nbsp;O Jordanova,&nbsp;Z Gucev,&nbsp;L Jenkins,&nbsp;N Jovanovska,&nbsp;D Plaseska-Karanfilska,&nbsp;E Ashton,&nbsp;D Bockenhauer","doi":"10.2478/bjmg-2023-0009","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0009","url":null,"abstract":"<p><p>Gitelman syndrome (GS) is a rare renal tubulopathy with an autosomal recessive mode of inheritance, caused by biallelic pathogenic variants in the <i>SLC12A3</i> gene. The clinical features may overlap with other disorders, such as Bartter syndrome type 3, HNF1B nephropathy or even mitochondrial disease, but can be distinguished by molecular genetic analysis. Here we report on two preschool brothers, who presented with a several months' history of episodes of carpopedal spasms and muscle aches. The biochemical analyses revealed hypokalemia and hypomagnesemia without metabolic alkalosis. A 24-h urine sample demonstrated hypocalciuria. The molecular analyses showed that both patients were heterozygous for 3 (likely) pathogenic variants in <i>SLC12A3</i>: c.1805_1806del; p. (Tyr602Cysfs*31), c.2660+1G>A and c.2944 A>T; p. (Ile982Phe). Analysis of the parents showed that the mother was heterozygous for the c.2944 A>T p.(Ile982Phe) variant, and the father carried the other 2 variants (c.1805_1806del and c.2660+1G>A). Herein we present two children in a family from N. Macedonia with clinical manifestations and electrolyte imbalances suggestive of GS. The results of the tubulopathy next generation sequencing (NGS) panel confirmed the diagnosis. The boys are treated with a high salt diet and oral potassium and magnesium supplements.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7e/1b/bjmg-26-1-bjmg-2023-0009.PMC10413880.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10352074","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}

{"title":"Preventable Hazards from in Vitro Fertilization - A Case Series of CF Patients from Bulgaria.","authors":"N Yaneva,&nbsp;M Baycheva,&nbsp;P Kostova,&nbsp;V Papochieva,&nbsp;S Mileva,&nbsp;D Miteva,&nbsp;A Savov,&nbsp;G Petrova","doi":"10.2478/bjmg-2023-0001","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0001","url":null,"abstract":"<p><p>Pre-implantation genetic diagnosis (PGD) is not often performed when donor gametes are used, due to its high cost. This is with the presumption that the donors are healthy. We report on five cases of babies with confirmed cystic fibrosis (CF), being the result from in vitro fertilization (IVF) with donor (4 cases) or own gametes (one case). There has been no family history for CF in any of the families affected. The clinical presentation in the children ranged from meconium ileus to recurrent respiratory infections and severe nasal polyposis. The age of diagnosis also varied from birth until 9 years. Since one of the presented cases was discovered in a very renowned private IVF clinic, the clinic changed their own protocol, and currently they test every donor for CF carriership. The percentage of CF carriers in the donor population is roughly the same as the one predicted in the general population of Bulgaria - 1/33. Although PGD is costly, the costs for proper care for a CF patient are currently much higher. The more economical option would to screen every donor for CF carriership. IVF requires a lot of physical and psychological stamina. The couples that go through this procedure also require a great deal of hope. It is essential to be more preconscious for possible congenital diseases. We advocate every IVF center to test the donors for CF carriership or to provide PGD for their clients.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/be/89/bjmg-26-1-bjmg-2023-0001.PMC10413990.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10002044","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}

{"title":"Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy).","authors":"H Cobanogullari,&nbsp;N Akcan,&nbsp;M C Ergoren","doi":"10.2478/bjmg-2023-0007","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0007","url":null,"abstract":"<p><p>Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal trisomy 13, 18, and 21 and often for sex chromosomal aneuploidies (SCAs). Although the testing is also used for sex chromosomal aneuploidies, it is not as efficient as it is for common trisomies. In this particular study, we present a case for whom the NIPT diagnosis was originally 45,X and who was diagnosed with mixed gonadal dysgenesis 45,X/46,XY after birth. A 38-year-old [G3P3] pregnant woman underwent NIPT at 15 weeks' gestation and was found to be at probable risk for 45,X. Because cordocentesis is an invasive procedure, the pregnant woman did not want to undergo cordocentesis. Consequently, postnatal cytogenetic analysis was performed and the baby's karyotype was shown to be 45,X/46,X,+mar?. No numerical and/or structural anomalies were observed in the karyotypes of parents and siblings. Based on the microarray analysis of the analyzed sample, one copy of the X chromosome was detected in all cells and the presence of one copy of the Y chromosome was detected in a ~40% mosaic state: arr(X) x1,(Y)x1[0.4]. <i>SRY</i> gene duplication on Y chromosome was confirmed by fluorescence in situ hybridization (FISH) and microarray analysis. The patient's clinical examination showed ambiguous genitalia (clitoromegaly) and dysmorphic facial features. The baby underwent surgery for aortic coarctation. The results were consistent with a genetic diagnosis of 45,X/46,XY mixed gonadal dysgenesis. Genetic counselling was offered to the family. In conclusion, NIPT still has potential limitations in correctly identifying sex chromosomes and mosaicism that may mislead clinicians and families.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ad/70/bjmg-26-1-bjmg-2023-0007.PMC10413989.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10053363","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}

{"title":"Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager.","authors":"D E Popescu,&nbsp;D Marian,&nbsp;M Zeleniuc,&nbsp;Ch Samoila,&nbsp;V Belengeanu","doi":"10.2478/bjmg-2023-0006","DOIUrl":"https://doi.org/10.2478/bjmg-2023-0006","url":null,"abstract":"<p><p>Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bb/c7/bjmg-26-1-bjmg-2023-0006.PMC10413881.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10371937","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}

{"title":"<i>SLC26A2</i> Related Diastrophic Dysplasia in 42-Years Ukrainian Women.","authors":"M Bondarenko,&nbsp;I Haiboniuk,&nbsp;I Solovei,&nbsp;Y Shargorodska,&nbsp;H Makukh","doi":"10.2478/bjmg-2022-0018","DOIUrl":"https://doi.org/10.2478/bjmg-2022-0018","url":null,"abstract":"<p><p>Diastrophic dysplasia (DTD) is an uncommon pathology which falls under the group of skeletal dysplasias with its first symptoms observed from birth. The pathology is often featured by short stature and abnormally short extremities (also known as short-limbed dwarfism); the osseous structures of the body (bones and joints) are characterized through defective development in many body regions. More than 300 genes were reported to be involved in DTD etiology with autosomal recessive, autosomal dominant and X-linked manner. We describe clinical case of a 42-year-old woman from the west of Ukraine with diastrophic dysplasia and two pathogenic variants <i>c.1020_1022del (p.Val341del)</i> and <i>c.1957T>A (p.Cys653Ser)</i> identified in <i>SLC26A2</i> gene. SLC26A2-related diastrophic dysplasia was confirmed based on the presence of pathogenic variants in <i>SLC26A2</i>, which is associated with autosomal recessive forms of skeletal dysplasia, combined with phenotypic symptoms and radiographic findings.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cc/f9/bjmg-25-2-bjmg-2022-0018.PMC10230836.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9568025","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}

{"title":"Unusual Manifestation of Extraosseous Ewing Sarcoma: Report of 3 Cases.","authors":"M Ioannidou,&nbsp;E Tsotridou,&nbsp;E Samoladas,&nbsp;A Tragiannidis,&nbsp;K Kouskouras,&nbsp;D Sfougaris,&nbsp;I Spyridakis,&nbsp;C Foroulis,&nbsp;A Galli-Tsinopoulou,&nbsp;E Hatzipantelis","doi":"10.2478/bjmg-2022-0022","DOIUrl":"https://doi.org/10.2478/bjmg-2022-0022","url":null,"abstract":"<p><p>Ewing sarcoma (ES), described as a diffuse endothelioma of the bone, is divided into two categories: osseous and extraosseous, which mainly affects adolescents. Extraosseous Ewing Sarcomas (EES) are rare tumors originating from soft tissues. Their clinical presentation depends mainly on the primary location of the tumor and are highly chemosensitive and radiosensitive. The purpose of this study was to describe the clinical characteristics and outcomes of 3 children with EES and uncommon presentation treated in our Unit. The diagnosis of EES was confirmed by biopsy and cytogenetic analysis with fluorescence in situ hybridization (FISH). Surgical excision was planned as primary treatment, followed by adjuvant chemotherapy according to EURO-E.W.I.N.G protocol. To date, all patients are alive, 1, 3 and 4 years after completion of treatment, with no signs of recurrence or metastasis.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bc/27/bjmg-25-2-bjmg-2022-0022.PMC10230840.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9940527","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}

{"title":"<i>BRCA 1/BRCA 2</i> Pathogenic/Likely Pathogenic Variant Patients with Breast, Ovarian, and Other Cancers.","authors":"K Osman,&nbsp;K Ahmet,&nbsp;T Hilmi,&nbsp;N O İlker,&nbsp;Ö Ercan,&nbsp;Ç Devrim,&nbsp;S Murat,&nbsp;Ç Emre,&nbsp;H İlhan,&nbsp;G Mustafa,&nbsp;Ü Yüksel,&nbsp;Y Bahiddin,&nbsp;E Cihan,&nbsp;N Ş Mehmet Ali,&nbsp;E Emrah,&nbsp;D Umut,&nbsp;O Zeynep,&nbsp;K Mehmet Ali,&nbsp;G Ali,&nbsp;G İvo,&nbsp;Ö Erkan,&nbsp;B H Muhammet,&nbsp;E Bülent,&nbsp;D Selma,&nbsp;U Sernaz,&nbsp;G Mahmut,&nbsp;G Hakan,&nbsp;Ç İrfan","doi":"10.2478/bjmg-2022-0023","DOIUrl":"https://doi.org/10.2478/bjmg-2022-0023","url":null,"abstract":"ABSTRACT The demographic and clinical characteristics of patients who have BRCA 1/BRCA 2 pathogenic/likely pathogenic variants may differ from their relatives who had BRCA-related cancer. In this study, we aimed to demonstrate the clinical and demographic findings of patients who had BRCA-related cancer and to assess the differences comparing their relatives who had BRCA-related cancer with breast, genital tract, prostate, and pancreas cancers as well. The results of sequencing analysis of 200 cancer patients (190 women, 10 men) who have been directed to genetic counseling with an indication of BRCA1/BRCA2 testing from different regions across 9 medical oncology centers were retrospectively analyzed. A total of 200 consecutive cancer patients who harbored the BRCA1/BRCA2 pathogenic/likely pathogenic variant (130 (65%) patients harbored BRCA 1 pathogenic/likely pathogenic variant, and 70 harbored BRCA 2 pathogenic/likely pathogenic variant) were included. Of these, 64.0% had breast cancer (43.8% of them had the triple-negative disease, and about 2.3% had only the HER-2 mutant), 31.5% had genital cancers (92.1% of them had ovarian cancer, 3.2% had endometrium, and 1.6% had peritoneum cancer as the primary site and mostly serous adenocarcinoma was the most common histopathology and 14.3% of the patients had endometrioid adenocarcinoma), 3.5% had prostate (median time from metastasis to castration-resistant status was 28 months) and 1.0% had pancreas cancer. Newly diagnosed cancer (breast and ovary) patients who had BRCA 1/BRCA 2 pathogenic/ likely pathogenic variant were younger than their previous cancer diagnosed (breast, ovary, and pancreas) parents who harbored BRCA pathogenic/likely pathogenic variant. We suggest that the genetic screening of BRCA 1/ BRCA 2 pathogenic/likely pathogenic variant is needed as a routine screening for those with a personal or family history of breast, ovarian, tubal, or peritoneal cancer. In addition, once BRCA 1 or BRCA 2 germline pathogenic variant has been identified in a family, testing of at-risk next-generation relatives earlier can identify those family members who also have the familial pathogenic variant, and thus need increased surveillance.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c2/a2/bjmg-25-2-bjmg-2022-0023.PMC10230841.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9940529","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}

{"title":"Analysis of Mitochondrial Transfer RNA Mutations in Breast Cancer.","authors":"H J Ding,&nbsp;Y P Zhao,&nbsp;Z C Jiang,&nbsp;D T Zhou,&nbsp;R Zhu","doi":"10.2478/bjmg-2022-0020","DOIUrl":"https://doi.org/10.2478/bjmg-2022-0020","url":null,"abstract":"<p><p>Damage of mitochondrial functions caused by mitochondrial DNA (mtDNA) pathogenic mutations had long been proposed to be involved in breast carcinogenesis. However, the detailed pathological mechanism remained deeply undetermined. In this case-control study, we screened the frequencies of mitochondrial tRNA (mt-tRNA) mutations in 80 breast cancer tissues and matched normal adjacent tissues. PCR and Sanger sequence revealed five possible pathogenic mutations: <i>tRNA^Val</i> G1606A, <i>tRNA^Ile</i> A4300G, <i>tRNA</i>^{<i>Ser</i>(UCN)} T7505C, <i>tRNA^Glu</i> A14693G and <i>tRNA^Thr</i> G15927A. We noticed that these mutations resided at extremely conserved positions of tRNAs and would affect tRNAs transcription or modifications. Furthermore, functional analysis suggested that patients with these mt-tRNA mutations exhibited much lower levels of mtDNA copy number and ATP, as compared with controls (p<0.05). Therefore, it can be speculated that these mutations may impair mitochondrial protein synthesis and oxidative phosphorylation (OXPHOS) complexes, which caused mitochondrial dysfunctions that were involved in the breast carcinogenesis. Taken together, our data indicated that mutations in mt-tRNA were the important contributors to breast cancer, and mutational analyses of mt-tRNA genes were critical for prevention of breast cancer.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1e/38/bjmg-25-2-bjmg-2022-0020.PMC10230833.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9559671","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}

{"title":"High Risk of Gestational Trophoblastic Neoplasia Development in Recurrent Hydatidiform Moles with <i>NLRP7</i> Pathogenic Variations.","authors":"M Kocabey,&nbsp;I Gulhan,&nbsp;A Koc,&nbsp;T Cankaya,&nbsp;V Karatasli,&nbsp;A Ileri","doi":"10.2478/bjmg-2022-0025","DOIUrl":"https://doi.org/10.2478/bjmg-2022-0025","url":null,"abstract":"<p><strong>Objective: </strong>Pathogenic variations of the <i>NLRP7</i> and <i>KHDC3L</i> genes are responsible for familial recurrent hydatidiform moles, a rare autosomal recessive phenomenon that can lead to severe comorbidities. Little is known about the diversity of genetic defects or the natural course of disease progression among recurrent hydatidiform mole cases from distinct ethnicities. In this study, we aimed to investigate the mutation profile and pregnancy outcomes in patients with multiple molar pregnancies.</p><p><strong>Material and methods: </strong>Three unrelated cases with recurrent molar pregnancies are included in this study. None of the patients had a known family history of molar pregnancy. Clinical findings and follow-up results are documented. Sanger sequencing is used to reveal genetic defects in exons and exon-intron boundaries of <i>NLRP7</i> and <i>KHDC3L</i> genes.</p><p><strong>Results: </strong><i>NLRP7</i> pathogenic variants were found in all three cases. In two cases, homozygous, c.2471+1G>A canonical splice cite variant was identified and in one case a homozygous, c.2571dupC (p.Ile858HisfsTer11) frameshift variant was identified. No variant in the <i>KHDC3L</i> gene was found in any case. In all cases, the development of gestational trophoblastic neoplasia complicated the clinical course and the treatment plans.</p><p><strong>Conclusions: </strong>We found that defects of the <i>NLRP7</i> gene are principally responsible for etiology in our region, and the mutation profile suggests a founder effect in the Turkish population. We suggest early genetic diagnosis and counseling in molar pregnancies and recommend close follow-up in terms of conversion to gestational trophoblastic neoplasia.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/83/fa/bjmg-25-2-bjmg-2022-0025.PMC10230829.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9940530","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}

{"title":"Adipocyte \"Fatty Acid Binding Protein\" Gene Polymorphisms (<i>rs1054135, rs16909196</i> and <i>rs16909187</i>) in Jordanians with Obesity and Type 2 Diabetes Mellitus.","authors":"S W El-Ryalat,&nbsp;Y M Irshaid,&nbsp;M Abujbara,&nbsp;M El-Khateeb,&nbsp;K M Ajlouni","doi":"10.2478/bjmg-2022-0019","DOIUrl":"https://doi.org/10.2478/bjmg-2022-0019","url":null,"abstract":"<p><strong>Background: </strong>Obesity, type 2 diabetes mellitus (T2DM), and dyslipidemia may result from the interactions of genetic and environmental factors. There are controversial reports concerning the association of polymorphisms (<i>rs1054135, rs16909196</i> and <i>rs16909187</i>) in the gene of adipocyte fatty acid binding protein (FABP4) with obesity and T2DM. Therefore, we designed this study to determine the association of these polymorphisms with obesity, T2DM, and dyslipidemia among Jordanian subjects.</p><p><strong>Methods: </strong>The study was approved by the National Center for Diabetes, Endocrinology, and Genetics (NCDEG) Institutional Review Board (IRB). A total of 397 subjects were enrolled in the study and divided into four groups as described in materials and methods section. The fatty acid binding protein 4 (<i>FABP4)</i> gene containing (<i>rs1054135, rs16909196</i> and <i>rs16909187</i>) single nucleotide polymorphisms (SNP) was amplified by polymerase chain reaction (PCR) followed by Sanger DNA sequencing of the PCR product.</p><p><strong>Results: </strong>None of the three SNPs were associated with T2DM (p > 0.05). The <i>rs16909187</i> and <i>rs16909196</i> were significantly associated with obesity. The wild type (CC) of <i>rs16909187</i> was significantly higher among the overweight and obese group compared with normal weight controls (OD = 2.17, 95% CI = 1.18 - 3.96, p =0.01). The wild type of <i>rs16909196</i> (AA) was significantly higher among the overweight and obese group compared to controls, (OD = 2.26, 95% CI = 1.24 - 4.14, p = 0.01). These results may indicate that the wild-type may be a risk factor for obesity.Only the <i>rs1054135</i> SNP was significantly associated with increased low density lipoprotein (LDL) levels in the overweight and obese group compared with the controls (p = 0.03).</p><p><strong>Conclusions: </strong>The wild-type genotypes of <i>rs16909196</i> and <i>rs16909187</i> may be risk factors for obesity but not T2DM. None of the three SNPs was associated with T2DM.</p>","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/df/4d/bjmg-25-2-bjmg-2022-0019.PMC10230837.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9568030","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}