Application of Clinical Genetics最新文献_第4页

A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation. 一种新的遗传性综合征，可导致心源性猝死，并伴有明显的 ST 段压低和 Ankyrin-2 基因突变。

IF 3.1

Application of Clinical Genetics Pub Date : 2023-12-21 eCollection Date: 2023-01-01 DOI: 10.2147/TACG.S438957

Hubertus von Korn, Cristina Basso, Kalliopi Pilichou, Victor Stefan, Patrick Swojanowsky

{"title":"A New Inherited Syndrome Causing Sudden Cardiac Death with Distinct ST-Segment Depression and Ankyrin-2-Mutation.","authors":"Hubertus von Korn, Cristina Basso, Kalliopi Pilichou, Victor Stefan, Patrick Swojanowsky","doi":"10.2147/TACG.S438957","DOIUrl":"10.2147/TACG.S438957","url":null,"abstract":"Introduction: Sudden cardiac death (SCD) is a serious threat. In individuals under the age of 35 years sudden arrhythmic death is the most frequent cause. In younger persons, genetically determined cardiac diseases (eg, cardiomyopathies and ion-channel diseases) account for an important proportion of these cases.Methods: We investigated the case of a 23-year-old male with SCD, specific ECG changes and left ventricular hypertrophy. Family history was significant for SCD in the paternal line. A precise analysis was performed by an international multidisciplinary expert panel including autopsy of the index patient's heart, molecular autopsy, whole-exome sequencing, analysis of the pedigree and examination of available family members.Results: Three cases of SCD were reported in paternal relatives. The index patient exhibited specific ECG changes (ST-depression), which were also found in five paternal relatives and the brother of the index patient. Post-mortem analysis of the heart yielded mild idiopathic concentric hypertrophy without myocardial disarray. The genetic analysis of the index patient showed two nucleotide variations in two different genes (ANK2: c.11791G>A, MYO18B: c.3761G>A), which were also expressed in five relatives. Two family members had showed all indicators of the inherited syndrome including distinct ECG changes and genetic changes.Conclusion: We describe a distinct inheritable syndrome causing SCD, characterized by specific ECG changes and mutations of ANK2 and MYO18. As far as we know this is the first description of this syndrome.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"16 ","pages":"233-239"},"PeriodicalIF":3.1,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10749570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139038005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population. 印度尼西亚人维生素 D 受体基因多态性及其与白癜风的关系

IF 3.1

Application of Clinical Genetics Pub Date : 2023-12-21 eCollection Date: 2023-01-01 DOI: 10.2147/TACG.S435016

Retno Hesty Maharani, Hartati Purbo Dharmadji, Reti Hindritiani, Pati Aji Achdiat, Hendra Gunawan, Reiva Farah Dwiyana

{"title":"Vitamin D Receptor Gene Polymorphisms and Association with Vitiligo in Indonesian Population.","authors":"Retno Hesty Maharani, Hartati Purbo Dharmadji, Reti Hindritiani, Pati Aji Achdiat, Hendra Gunawan, Reiva Farah Dwiyana","doi":"10.2147/TACG.S435016","DOIUrl":"10.2147/TACG.S435016","url":null,"abstract":"Introduction: Vitiligo is an acquired depigmenting skin disorder due to the loss of melanocyte function in the epidermis and hair follicles. The pathogenesis of vitiligo is multifactorial, with genetics being a predisposing factor. Previous studies had varying results regarding whether or not polymorphisms of vitamin D receptor (VDR) gene are associated with the risk of vitiligo in specific populations. This study investigated the association between three frequently analyzed VDR gene polymorphisms (ApaI, BsmI, TaqI) and susceptibility to vitiligo in Indonesian population.Methods: Thirty-four vitiligo patients and 34 age- and sex-matched healthy subjects aged ≥18 years old were recruited in the Dermatology and Venereology Outpatient Clinic of Dr. Hasan Sadikin General Hospital, Bandung, Indonesia. Genomic deoxyribonucleic acid (DNA) was extracted from the peripheral blood using a DNA isolation kit. VDR gene polymorphisms (ApaI, BsmI, and TaqI) were investigated using the polymerase chain reaction-restriction-fragment length polymorphism method. The differences of genotype distributions and allele frequencies were statistically compared between case and control groups using Chi-square test.Results: VDR gene polymorphisms were identified in 68 participants, consisting of Aa (n = 14), aa (n = 20), Bb (n = 15), bb (n = 19), and TT (n = 34) genotypes in the case group. In the control group, Aa (n = 6), aa (n = 28), Bb (n = 17), bb (n = 17), and TT (n = 34) genotypes were identified. However, only subjects with ApaI Aa genotype polymorphism had a 3.267-fold increased risk of developing vitiligo.Conclusion: This study showed that ApaI Aa genotype polymorphism of the VDR gene increases the risk of vitiligo in Indonesian population.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"16 ","pages":"225-232"},"PeriodicalIF":3.1,"publicationDate":"2023-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10749542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139038006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations. 血友病患者诊断工具的多中心研究:从床边到综合调查。

IF 3.1

Application of Clinical Genetics Pub Date : 2023-12-01 eCollection Date: 2023-01-01 DOI: 10.2147/TACG.S434470

Ampaiwan Chuansumrit, Rungrote Natesirinilkul, Nongnuch Sirachainan, Praguywan Kadegasem, Pacharapan Surapolchai, Noppawan Tangbubpha, Ketsuda Kempka, Tanyanee Khlangtan

{"title":"Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations.","authors":"Ampaiwan Chuansumrit, Rungrote Natesirinilkul, Nongnuch Sirachainan, Praguywan Kadegasem, Pacharapan Surapolchai, Noppawan Tangbubpha, Ketsuda Kempka, Tanyanee Khlangtan","doi":"10.2147/TACG.S434470","DOIUrl":"10.2147/TACG.S434470","url":null,"abstract":"Background: Hemophilia cannot be diagnosed in most laboratories of economically less-developed countries leading to high mortality and morbidity rates.Aim: A diagnostic tool was established ranging from bleeding assessment and a simple bedside test of mixing venous clotting time (VCT) to comprehensive DNA analysis for patients with hemophilia.Methods: Patients with known (n=80) and suspected hemophilia (n=14) were included. Their bleeding symptoms were initially evaluated using verified translated-Thai ISTH bleeding assessment tool. Then, blood samples were drawn using a two-syringe technique, 2 mL each was placed in three tubes, for the mixing VCT and citrate blood was kept for coagulogram and coagulation factor assay. Finally, DNA analysis was determined.Results: A total of 94 patients with hemophilia (A68, B26) defined as severe (A 57, B 17), moderate (A 7, B 5), and mild degrees (A 4, B 4) with the mean (SD) age of 14.0 (11.7) years and 24 normal controls aged 25.5 (4.5), were enrolled in the study. The mean (SD) bleeding score of patients with hemophilia was 13.5 (5.5), which did not significantly differ between patients with hemophilia A and B. The mixing venous clotting time offered the presumptive diagnosis of hemophilia A and B, which were subsequently confirmed by the prolonged APTT, low FVIII:C and FIX:C and mutations on the factor VIII and IX genes.Conclusion: A diagnostic tool for bleeding assessment, mixing venous clotting time, coagulogram, coagulation factor assay, and DNA analysis for patients with hemophilia has been established in the existing health-care system.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"16 ","pages":"215-223"},"PeriodicalIF":3.1,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10697004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138499681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics. 在瑞士中心11年的肿瘤遗传学咨询:患者和测试特征。

IF 2.6

Application of Clinical Genetics Pub Date : 2023-11-09 eCollection Date: 2023-01-01 DOI: 10.2147/TACG.S410261

Bastien Grandjean, Amina Scherz, Manuela Rabaglio

{"title":"Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics.","authors":"Bastien Grandjean, Amina Scherz, Manuela Rabaglio","doi":"10.2147/TACG.S410261","DOIUrl":"10.2147/TACG.S410261","url":null,"abstract":"Introduction: Oncogenetic counseling has been provided at the University Hospital of Bern since 2004. Since the public announcement by Ms. Angelina Jolie in 2013 that she had undergone bilateral prophylactic mastectomy, other oncogenetic centers have reported an increase in consultations. We conducted a retrospective review of the oncogenetic consultations at our center to evaluate the presence and the consequences of a potential \"Angelina Jolie effect\" and to characterize this patient population over a decade.Methods: All initial oncogenetic consultations between 2005 and 2015 were collected, using electronic records. Demographics, cancer type, testing, and mutation results, as well as consultation rates, were recorded. The yearly trends were analyzed using Joinpoint regression analysis (JPA).Results: In total, 823 patient cases were included, mostly women (84%), half of them with a positive personal cancer history. A hereditary breast and ovarian cancer (HBOC) risk was the main reason for consultation (72%). Moreover, 22% of patients had a previously detected familial mutation. Two-thirds underwent testing, which yielded a positive test result in 31% of the cases. According to JPA, the consultation rate increased throughout the decade, with a significant upward trend from 2013. Rates of testing and positive results remained stable over time. Most patients (86%) fulfilled the referral criteria of published guidelines.Discussion: At our center, we found retrospectively a disproportionate growth in the referral rate for HBOC cases compared to other oncological cases after the year 2013, but overall, no change in testing rates was detected.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"16 ","pages":"205-213"},"PeriodicalIF":2.6,"publicationDate":"2023-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"107592447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","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 Many Faces of Arrhythmogenic Cardiomyopathy: An Overview. 致心律失常性心肌病的多方面：综述。

IF 3.1

Application of Clinical Genetics Pub Date : 2023-11-01 eCollection Date: 2023-01-01 DOI: 10.2147/TACG.S383446

Hanna J Tadros, Christina Y Miyake, Debra L Kearney, Jeffrey J Kim, Susan W Denfield

引用次数: 0

Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women. 女性同型半胱氨酸代谢相关基因多态性与不明原因复发性流产的相关性评价

IF 2.6

Application of Clinical Genetics Pub Date : 2022-06-07 eCollection Date: 2022-01-01 DOI: 10.2147/TACG.S365281

Nhat Nguyen Ngoc, My Tran Ngoc Thao, Sang Trieu Tien, Son Vu Tung, Hoang Le, Hung Ho Sy, Tung Nguyen Thanh, Son Trinh The

{"title":"Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women.","authors":"Nhat Nguyen Ngoc, My Tran Ngoc Thao, Sang Trieu Tien, Son Vu Tung, Hoang Le, Hung Ho Sy, Tung Nguyen Thanh, Son Trinh The","doi":"10.2147/TACG.S365281","DOIUrl":"10.2147/TACG.S365281","url":null,"abstract":"Objective: To investigate the relationship between unexplained recurrent pregnancy loss (URPL) and polymorphisms of homocysteine metabolism-related genes in women.Materials and methods: A case-control study included 90 women with two or more consecutive unexplained pregnancy losses and 92 controlled women without miscarriage history; the female participants were in the age category of 18-35 years. The high-resolution melting technique was used to detect the single-nucleotide variants related to homocysteine metabolism disorder, namely MTHFR C677T, MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphism.Results: The MTHFR C677T polymorphism had significantly correlation with URPL. Indeed, the frequency of the677T allele and genotypes (677CT, 677TT) in the URPL group was significantly higher than that in the control group (p < 0.05). However, the allele, as well as genotype distribution of MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphisms showed no significant difference (p > 0.05). MTHFR 677CT-1298AC genotype combination led to a 9.0-fold increased risk of URPL (OR 9.0; 95% CI, 2.25-35.99; p = 0.001), while the risk increased 10.0-fold (OR 10.0; 95% CI, 1.8-55.53; p = 0.008) when participants had more than the 3 variant loci.Conclusion: The MTHFR C677T polymorphism was a risk factor for URPL, and determining the MTHFR C677T polymorphism had a potential prediction of URPL risk. Moreover, the MTHFR C677T and MTHFR A1298C joint mutants might have a synergistic effect on URPL. Conversely, there is a lack of evidence suggesting the URPL risk of MTHFR A1298C, MTR A2756G, and MTRR A66G polymorphisms.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"15 1","pages":"55-62"},"PeriodicalIF":2.6,"publicationDate":"2022-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9188402/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44886146","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening? 散发性血友病内含子22倒置的显著突变：值得产前筛查吗？

IF 3.1

Application of Clinical Genetics Pub Date : 2022-05-01 DOI: 10.2147/TACG.S363132

W. Sasanakul, A. Chuansumrit, N. Sirachainan, P. Kadegasem

{"title":"Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening?","authors":"W. Sasanakul, A. Chuansumrit, N. Sirachainan, P. Kadegasem","doi":"10.2147/TACG.S363132","DOIUrl":"https://doi.org/10.2147/TACG.S363132","url":null,"abstract":"Background Adequate replacement for patients with hemophilia is costly, especially in countries with limited resources. Objective Factor VIII gene mutations among Thai patients with hemophilia A were analyzed for the most common mutation. The cost-effectiveness of finding one female without family history of hemophilia possessing the most common factor VIII mutation was compared with the cost of treating one patient with hemophilia. Methods In all, 109 unrelated patients with hemophilia A, defined as sporadic cases (n=58) and hereditary cases (n=51), were enrolled for genotypic analysis. Results Intron 22 inversion was prominently found in 34 sporadic (58.6%) and 27 hereditary (51.9%) cases. The screening for intron 22 inversion among females without family history of hemophilia at antenatal care has been optionally suggested. A female with a positive result will undergo further prenatal diagnosis of hemophilia in her male offspring. On the contrary, a female with a negative test result remains at risk to have a hemophiliac son caused by other factor VIII gene mutations not included in the screening but the risk is not as high as intron 22 inversion. Although the screening of factor VIII mutation among females without family history of hemophilia is against the current practice, it has been initiated due to the inadequate treatment provided to patients with hemophilia in countries with limited resources. The study calculated approximately one female with intron 22 inversion would exist among 17,064 females without family history of hemophilia. The cost of screening (194,870 USD) was much less than that of treating one patient with hemophilia from birth to 40 years of age by the current regimen (378,000 USD). Conclusion Implementing antenatal screening of intron 22 inversion among females without family history of hemophilia is optionally suggested, especially in economically less-developed countries with inadequate treatment service for patients with hemophilia.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"15 1","pages":"49 - 54"},"PeriodicalIF":3.1,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41392044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example 新生儿重症监护病房的分子遗传筛查:以高胆红素血症为例

IF 3.1

Application of Clinical Genetics Pub Date : 2022-05-01 DOI: 10.2147/TACG.S362148

Yuqi Yang, Yu Wang, Lingna Zhou, W. Long, Binsheng Yu, Huaiyan Wang

{"title":"Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example","authors":"Yuqi Yang, Yu Wang, Lingna Zhou, W. Long, Binsheng Yu, Huaiyan Wang","doi":"10.2147/TACG.S362148","DOIUrl":"https://doi.org/10.2147/TACG.S362148","url":null,"abstract":"Objective To explore the clinical value of newborn genomic screening (nGS) for neonatal intensive care units (NICU) infants (taking neonatal hyperbilirubinemia as an example). Methods Dried blood spots (DBSs) were collected after 72 hours of birth. The tandem mass spectrometry (TMS) screening and Angel Care genomic screening (GS, based on Targeted next-generation sequencing) were performed at the same time. Results Ninety-six hyperbilirubinemia newborns were enrolled in this study and none was identified with inborn errors of metabolism (IEM) by TMS, while 6 infants (6.25%, 6/96) were suspected to have a genetic disorder by Angel Care, including 2 cases of glucose-6-phosphate dehydrogenase deficiency (G6PD), and 1 case of maple syrup urine disease type 1B (MSUD1B), autosomal recessive deafness 1A (DFNB1A), Leber hereditary optic neuropathy (LHON), thyroid dyshormonogenesis 6 (TDH6) each. In addition, 44 infants (45.8%) were detected having at least one variant which conferred a carrier status for a recessive childhood-onset disorder. A total of 33 out of 60 variants (55.0%) reported for carrier status were pathogenic (P), 24 (40.0%) were likely pathogenic (LP), and 3 variants were variant of uncertain significance (VUS). Top six common genes of carrier status were GJB2, DUOX2, PRODH, ATP7B, SLC12A3, SLC26A4. Two newborns showed abnormalities in elementary screening of TMS, but were confirmed as false positive after recall. Their results of Angel Care did not found abnormality. Conclusion Using neonatal hyperbilirubinemia as an example, genome sequencing screening can find more evidence of genetic variation in NICU newborns, and “Angel Care” is an effective method.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"15 1","pages":"39 - 48"},"PeriodicalIF":3.1,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44952510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 3

CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus 印尼1型糖尿病患者CTLA-4 CT-60 A/G和CTLA-4 1822 C/T基因多态性

IF 3.1

Application of Clinical Genetics Pub Date : 2022-04-29 DOI: 10.2147/TACG.S359158

N. Rochmah, M. Faizi, Suhasta Nova, R. A. Setyoningrum, S. Basuki, A. Endaryanto

{"title":"CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus","authors":"N. Rochmah, M. Faizi, Suhasta Nova, R. A. Setyoningrum, S. Basuki, A. Endaryanto","doi":"10.2147/TACG.S359158","DOIUrl":"https://doi.org/10.2147/TACG.S359158","url":null,"abstract":"Introduction CTLA-4 gene polymorphism plays an important role in children with type 1 diabetes mellitus (T1DM). However, data on this subject vary among different races and ethnics. Purpose To analyze CTLA-4 CT-60 A/G and CTLA-4 1822 C/T gene polymorphism among children with T1DM compared to control. Patients and Methods The CTLA-4 CT-60 A/G and CTLA-4 1822 C/T gene polymorphism in children with T1DM using polymerase chain reaction-restriction fragment length polymorphism in 25 T1DM and 25 controls. The inclusion criteria were patients regularly controlled at the Pediatric Endocrine Outpatient Clinic of Dr. Soetomo Hospital, aged 4–18 years and willing to join this study and the exclusion criteria were T1DM patients hospitalized in the pediatric intensive care unit. In the control group, the inclusion criteria were healthy children, aged 4–18 years and willing to join this study. The exclusion criteria included children with ongoing infection, history of other autoimmune diseases, allergies, or malignancy. Results The mean age was 12.48 years old, and the mean of T1DM onset was 9.28 years old. The CTLA-4 1822 T allele observed in 62% T1DM and 56% in control (p = 0.388, OR = 0.78, 95% CI = 0.44–1.37) and CTLA-4 CT-60 G allele observed in 52% T1DM and 58% in control (p = 0.393, OR = 1.27, 95% CI = 0.73–2.22). The C/T genotypes was significantly higher in control group (p = 0.045, OR = 3.27, 95% CI = 1.00–10.62). The A/G genotypes was commonly found in control group (p = 0.765, OR = 1.20, 95% CI = 0.37–3.86). The Javanese was the dominant ethnic group in our study. Conclusion The frequency of CTLA-4 CT-60 A/G polymorphism almost equivalent in T1DM and control group. However, CTLA-4 1822 C/T polymorphism was more prevalent in the control group; thus, this genotype may have a protective effect against T1DM.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"15 1","pages":"19 - 25"},"PeriodicalIF":3.1,"publicationDate":"2022-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42873602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

CCR2 Genetic Polymorphism And Its Potential Effect On HIV Acquisition In A Population Of Children Living In The Northern Region Of Cameroon 喀麦隆北部地区儿童CCR2基因多态性及其对HIV感染的潜在影响

IF 3.1

Application of Clinical Genetics Pub Date : 2019-11-28 DOI: 10.2147/TACG.S202498

M. Ngoufack, C. Nkenfou, Barbara Atogho Tiedeu, L. Mouafo, B. Dambaya, E. Ndzi, C. Kouanfack, G. Nguefack-Tsague, W. Mbacham, A. Ndjolo

{"title":"CCR2 Genetic Polymorphism And Its Potential Effect On HIV Acquisition In A Population Of Children Living In The Northern Region Of Cameroon","authors":"M. Ngoufack, C. Nkenfou, Barbara Atogho Tiedeu, L. Mouafo, B. Dambaya, E. Ndzi, C. Kouanfack, G. Nguefack-Tsague, W. Mbacham, A. Ndjolo","doi":"10.2147/TACG.S202498","DOIUrl":"https://doi.org/10.2147/TACG.S202498","url":null,"abstract":"Background and objectives The association of chemokine receptor-2 (CCR2) polymorphism with HIV transmission or disease progression remains highly controversial. The role of CCR2-64I allele in HIV infection may differ from one population to another because of their genetic background. The objectives of this study were to characterize the CCR2 genetic polymorphism and to determine its potential effect in HIV acquisition in children living in the Northern Region of Cameroon. Materials and methods A cross-sectional study was carried out in five health facilities in the Northern region of Cameroon. DNA was extracted from the Buffy coat of each participant using the QIAamp®DNA mini kit. The DNA extract was then subjected to polymorphic analyses. CCR2 genotypes were analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). The Chi-Squared test was used for the assessment of the Hardy-Weinberg equilibrium. Results A total of 134 children under 15 years comprised of 38 HIV-exposed infected (28.36%) and 96 HIV-exposed un-infected (71.64%) participants were recruited. Prevalences of 44.78% wild type homozygous, 48.52% heterozygous and 6.7% mutant homozygous alleles were found in the overall population. An allelic frequency of 29.69% for the mutant allele CCR2-64I was found in HIV-exposed un-infected individuals as compared to 34.21% in HIV-infected children (p=0.47). Conclusion The CCR2-64I allele is relatively common in the Northern Region of Cameroon, with a similar distribution among HIV-exposed un-infected and infected children. As this allele alone does not seem to confer protection against HIV-1 infection, further studies using genotype-combination of CCR2 polymorphism and other single nucleotide polymorphisms would be of great relevance in both HIV prevention and novel therapeutic strategies.","PeriodicalId":39131,"journal":{"name":"Application of Clinical Genetics","volume":"12 1","pages":"229 - 234"},"PeriodicalIF":3.1,"publicationDate":"2019-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S202498","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48529744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2