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1.
Chinese Journal of Medical Genetics ; (6): 62-65, 2023.
Article in Chinese | WPRIM | ID: wpr-970879

ABSTRACT

OBJECTIVE@#To carry out genetic testing for a child with Marfan syndrome (MFS) and explore its genotype-phenotype correlation.@*METHODS@#Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA and subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Functional impact of the variant was predicted by using bioinformatic software.@*RESULTS@#The child, a 13-year-old male, has featured Marfanoid habitus, with arm span exceeding his height, tapering fingers and toes, pectus excavatum and scoliosis, but absence of typical cardiovascular system diseases such as aortic dilation, thoracic-abdominal aortic aneurysm, mitral valve prolapse, and lens dislocation. The child has harbored a novel splice site variant c.7383_7413del (p. N2461Kfs*211) of the FBN1 gene, which was not found in his parents and younger brother. The variant was unreported previously.@*CONCLUSION@#The novel variant of p. N2461Kfs*211 of the FBN1 gene probably underlay the MFS in this child. Above finding has enriched the genotypic and phenotypic spectrum of MFS.


Subject(s)
Male , Humans , Marfan Syndrome/genetics , Fibrillin-1/genetics , Mutation , Genotype , Genetic Association Studies
2.
Chinese Medical Journal ; (24): 176-183, 2023.
Article in English | WPRIM | ID: wpr-970052

ABSTRACT

BACKGROUND@#Juvenile amyotrophic lateral sclerosis (JALS) is an uncommon form of amyotrophic lateral sclerosis whose age at onset (AAO) is defined as prior to 25 years. FUS mutations are the most common cause of JALS. SPTLC1 was recently identified as a disease-causative gene for JALS, which has rarely been reported in Asian populations. Little is known regarding the difference in clinical features between JALS patients carrying FUS and SPTLC1 mutations. This study aimed to screen mutations in JALS patients and to compare the clinical features between JALS patients with FUS and SPTLC1 mutations.@*METHODS@#Sixteen JALS patients were enrolled, including three newly recruited patients between July 2015 and August 2018 from the Second Affiliated Hospital, Zhejiang University School of Medicine. Mutations were screened by whole-exome sequencing. In addition, clinical features such as AAO, onset site and disease duration were extracted and compared between JALS patients carrying FUS and SPTLC1 mutations through a literature review.@*RESULTS@#A novel and de novo SPTLC1 mutation (c.58G>A, p.A20T) was identified in a sporadic patient. Among 16 JALS patients, 7/16 carried FUS mutations and 5/16 carried respective SPTLC1 , SETX , NEFH , DCTN1 , and TARDBP mutations. Compared with FUS mutation patients, those with SPTLC1 mutations had an earlier AAO (7.9 ± 4.6 years vs. 18.1 ± 3.9 years, P  < 0.01), much longer disease duration (512.0 [416.7-607.3] months vs. 33.4 [21.6-45.1] months, P  < 0.01), and no onset of bulbar.@*CONCLUSION@#Our findings expand the genetic and phenotypic spectrum of JALS and help to better understand the genotype-phenotype correlation of JALS.


Subject(s)
Humans , Child, Preschool , Child , Adolescent , Young Adult , Amyotrophic Lateral Sclerosis/genetics , DNA Helicases/genetics , Genetic Association Studies , Multifunctional Enzymes/genetics , Mutation/genetics , RNA Helicases/genetics , RNA-Binding Protein FUS/genetics , Serine C-Palmitoyltransferase/genetics
3.
Chinese Journal of Medical Genetics ; (6): 56-59, 2022.
Article in Chinese | WPRIM | ID: wpr-928361

ABSTRACT

OBJECTIVE@#To explore the genotype-phenotype correlation of a Chinese pedigree affected with Lowe syndrome.@*METHODS@#Whole exome sequencing (WES) and Sanger sequencing were carried out for the proband and members of his pedigree.@*RESULTS@#The proband, a 3-year-and-5-month-old male, presented with multiple anomalies including congenital cataract, glaucoma, brain dysplasia, renal dysfunction and cognitive impairment. WES revealed that he has harbored a novel hemizygous missense variant of the OCRL gene, namely NM_000276.3: c.1255T>C (p.Trp419Arg) (GRCh37/hg19), which was derived from his unaffected mother. The same variant was not found in his elder brother who was healthy. The variant was predicted to be pathogenic according to ACMG/AMP guideline. Compared with previously reported cases of Lowe syndrome, our patient has displayed rare features including corpus callosum dysplasia, reduction of white matter, cerebral hypoplasia, laryngomalacia, sebaceous cyst, recurrent eczema, cryptorchidism, hypoglycemia and irritability.@*CONCLUSION@#Above finding has expanded the mutational spectrum of the OCRL gene, enriched clinical features of Lowe syndrome, and enabled genetic counseling for this pedigree.


Subject(s)
Aged , Humans , Infant , Male , China , Genetic Association Studies , Mutation , Oculocerebrorenal Syndrome , Pedigree , Phosphoric Monoester Hydrolases/genetics , Exome Sequencing
4.
Chinese Journal of Epidemiology ; (12): 747-754, 2022.
Article in Chinese | WPRIM | ID: wpr-935454

ABSTRACT

Pharmacogenetic studies are designed to investigate the associations between genetic variation and treatment response for a particular drug in terms of both efficacy and adverse events and have high sample size requirements. To improve the quality of pharmacogenetic studies and facilitate the Meta-analyses to investigate statistically significant associations, Strengthening the Reporting of Pharmacogenetic Studies (STROPS) guideline was developed in 2020 based on the Strengthening the Reporting of Genetic Association Studies (STREGA) statement. The objective of this article is to present a brief introduction to the STROPS guideline and an interpretation of the key points in some items with examples for the better understanding and application.


Subject(s)
Humans , Genetic Association Studies , Pharmacogenomic Testing , Research Report
6.
Chinese Journal of Medical Genetics ; (6): 63-66, 2021.
Article in Chinese | WPRIM | ID: wpr-879524

ABSTRACT

OBJECTIVE@#To explore the genotype-phenotype correlation of a case with Sifrim-Hitz-Weiss syndrome (SIHIWES) caused by a novel CHD4 gene variant.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Whole-exome sequencing (WES) was carried out for the patient.Suspected variant was verified by Sanger sequencing.@*RESULTS@#The proband, a 2-year-old Chinese girl, presented with global developmental delay, intellectual disability, distinctive facial features and multiple congenital anomalies. Her prenatal manifestations included increased nuchal thickness, cranial and facial anomalies, and decreased fetal movement. WES has identified a novel variant in the CHD4 gene, namely NM_001273:c.2989C>G (p.Leu997Val) (GRCh37/hg19).Comparison of her phenotype with previously reported SIHIWES cases suggested that our patient's prenatal presentations were unreported before, with novel features including funduscopic anomaly, facial dysmorphisms such as asymmetrical ears, drooping eyelid, long philtrum and downturned mouth.@*CONCLUSION@#Above findings have expanded the mutational spectrum of the CHD4 gene and revealed novel phenotypes in Chinese patients with SIHIWES.


Subject(s)
Child, Preschool , Female , Humans , Pregnancy , China , Congenital Abnormalities/genetics , Genetic Association Studies , Genetic Testing , Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics , Phenotype , Syndrome , Exome Sequencing
7.
Braz. arch. biol. technol ; 64: e21200133, 2021. tab, graf
Article in English | LILACS | ID: biblio-1249209

ABSTRACT

Abstract Abscisic acid (ABA) is a plant hormone that plays several roles in plant development. The de novo synthesis and the reversible inactivation of ABA have been largely described in the literature; however, the degradation of ABA, promoted by the enzymes Abscisic Acid 8'-Hydroxylase, encoded by the CYP707A gene family, is still poorly elucidated. Strawberry (Fragaria x ananassa) has been used as a model to study the ABA-dependent maturation process of non-climacteric fruits, and the ABA-dependent response to abiotic stress. However, the CYP707A genes from this species have not been fully described and characterized. In this perspective, FaCYP707A sequences were identified from strawberry fruit transcriptome and several structural and comparative genomic analyzes were performed. Moreover, the expression of the FaCYP707A sequences identified was investigated in fruits under salt stress and ABA application. Four putative FaCYP707A were identified and the structural analysis confirmed the identity of three of them. The phylogenetic analysis allowed to determine their homologous in other plant species and to predict their evolutionary history; and the expression profile of the FaCYP707As demonstrated that FaCYP707A3 seems to be involved in the response against salt stress in an ABA-dependent manner. Moreover, the interaction network analysis pointed out proteins involved in the ABA metabolism, heavy metal homeostasis and detoxification, and cell wall dissemble. This study characterized for the first time the CYP707A gene family in F. ananassa; this information will guide future studies in order to develop biofortified fruits and stress tolerant plants.


Subject(s)
Phylogeny , Stress, Physiological , Abscisic Acid , Genetic Association Studies
8.
An. bras. dermatol ; 95(3): 283-288, May-June 2020. tab
Article in English | LILACS, ColecionaSUS | ID: biblio-1130886

ABSTRACT

Abstract Background: Alopecia areata is an autoimmune disease that produces non-scarring hair loss around the body. Gene variants of the cytotoxic T-lymphocyte antigen 4 (CTLA4) gene, a negative regulator of T-cell response, have been associated with a predisposition to autoimmune diseases in different populations; however, the involvement of these genetic variants in the development of AA is controversial. Objective: The present study evaluated the potential association of two CTLA4 gene variants with alopecia areata in a Mexican population. Methods: We genotyped +49AG (rs231775) and CT60 (rs3087243) variants in 50 AA patients and 100 healthy control participants through PCR-RFLP. Results: No statistical difference was observed for either of the gene variants regarding allele or genotype frequencies between AA patients and the controls when the parameters of family/personal history of autoimmune diseases or gender were considered (p > 0.05). Study limitations: Small sample size of patients and the data were obtained from Northeast Mexico population. Conclusion: The genetic variants rs231775 and rs3087243 of the CTLA4 gene are not a risk factor for the development of alopecia areata in the analyzed Mexican population.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Young Adult , Genetic Variation/genetics , Alopecia Areata/genetics , CTLA-4 Antigen/genetics , Case-Control Studies , Risk Factors , Genetic Predisposition to Disease , Polymorphism, Single Nucleotide , Genetic Association Studies , Genotyping Techniques , Gene Frequency , Mexico , Middle Aged
9.
An. bras. dermatol ; 95(1): 25-31, Jan.-Feb. 2020. tab
Article in English | LILACS | ID: biblio-1088722

ABSTRACT

Abstract Background: Cytochrome P450 2J2 is mostly expressed in extrahepatic tissues; it metabolizes arachidonic acid to epoxyeicosatrienoic acids, with various cardio protective and anti-inflammatory effects. CYP2J2 polymorphism has been identified as a risk factor for cardiovascular diseases, but its association with psoriasis remains unknown. Objective: To evaluate CYP2J2 polymorphism as a risk factor for psoriasis in the Turkish population. Methods: There were 94 patients with psoriasis and 100 age- and sex-matched healthy controls included in the study. Detailed demographic and clinical characteristics were recorded, and Psoriasis Area and Severity Index (PASI) scores were calculated for psoriasis patients. Venous blood samples were collected from all the participants and CYP2J2 50G>T (rs890293) polymorphism was analyzed using polymerase chain reaction (PCR). Results: Both T allele and TT + GT genotype frequencies were increased in psoriasis vulgaris patients compared to the control group (p = 0.024 and p = 0.029 respectively, OR = 2.82, 95% CI: 1.11-7.15) No association between CYP2J2 polymorphism and clinical features of psoriasis was identified. Study limitations: A limited number of patients were included in the study. Conclusion: CYP2J2 50G>T (rs890293) polymorphism was associated with an increased risk for PsV in the Turkish population.


Subject(s)
Humans , Male , Female , Adult , Polymorphism, Genetic , Psoriasis/genetics , Cytochrome P-450 Enzyme System/genetics , Turkey , Cardiovascular Diseases/genetics , Case-Control Studies , Polymerase Chain Reaction , Risk Factors , Age of Onset , Statistics, Nonparametric , Genetic Association Studies , Gene Frequency , Genotype , Middle Aged
10.
Chinese Journal of Medical Genetics ; (6): 567-569, 2020.
Article in Chinese | WPRIM | ID: wpr-826531

ABSTRACT

OBJECTIVE@#To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants.@*METHODS@#Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing.@*RESULTS@#The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic.@*CONCLUSION@#Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.


Subject(s)
Humans , Infant , Male , China , Ectodermal Dysplasia , Genetics , Facies , Failure to Thrive , Genetics , Genetic Association Studies , Genetic Variation , Heart Defects, Congenital , Genetics , Heterozygote , MAP Kinase Kinase 1 , Genetics , Mutation , Exome Sequencing
11.
Chinese Journal of Medical Genetics ; (6): 573-577, 2020.
Article in Chinese | WPRIM | ID: wpr-826529

ABSTRACT

Bartter syndrome is an inherited metabolic disorder characterized by hypokalemic alkalosis and high rennin-angiotensin-aldosteronism which can occur at all ages but mainly in childhood. Classical Bartter syndrome is caused by loss-of-function variants in the gene encoding basolateral chloride channel ClC-Kb (CLCNKB), which is a common type of Bartter syndrome characterized with diverse clinical manifestations ranging from severe to very mild. This article reviews the function and mechanism of CLCNKB variants in Chinese population and the genotype-phenotype correlation of CLCNKB variants in classical Bartter syndrome.


Subject(s)
Humans , Asian People , Bartter Syndrome , Genetics , Pathology , Chloride Channels , Genetics , Genetic Association Studies , Research
12.
Rev. Asoc. Méd. Argent ; 133(4): 30-38, 2020. ilus, tab
Article in Spanish | LILACS | ID: biblio-1444657

ABSTRACT

Introducción. Sobre la base de un caso clínico, se presenta la descripción del cuadro intersticial por deficiencia de ABCA3, de una paciente de catorce años de edad, en seguimiento durante doce años. Método. Evaluación clínica con extensos estudios para descartar otras patologías semejantes. El diagnóstico definitivo fue determinado por el estudio genético para deficiencias de ABCA3 y otros defectos genéticos realizados por el Dr. Larry Nogee, Hospital Johns Hopkins, EE. UU. Objetivos. Describir detalladamente la evolución de la paciente durante doce años, con énfasis en los estudios anteriormente mencionados. Sugerir la presencia de un cambio de paradigma pronóstico en lo que se conocía sobre la evolución de esta enfermedad intersticial pulmonar grave, tratar de mejorar la calidad de vida y posiblemente el pronóstico. Presentar los hallazgos de genética, anatomía patológica y radiología en consultas y evaluaciones por centros de referencia. Resultados. Realizado su diagnóstico de deficiencia genética de ABCA3, presentamos su seguimiento actualizado hasta el año 2020. Esta debe ser sospechada en niños pequeños desde el nacimiento y durante los primeros años ante la persistencia de cuadros pulmonares crónicos con desaturación de oxígeno e imágenes tomográficas que sugieren cuadro intersticial. Se decidió tratar el cuadro en los años 2019-2020, durante seis meses, según bibliografía y consultas con centros de referencia en los Estados Unidos, con la finalidad de determinar la posible mejoría de su patología y decidir la continuación o suspensión de la medicación. Se usaron pulsos con metilprednisolona- hidroxicloroquina y azitromicina. Se logró mantener estable su función pulmonar y mejorar notablemente su calidad de vida. (AU)


Introduction. A clinical case diagnosed with ABCA3 deficiency is described. Patient is now fourteen years old. She´s being followed up since she was two years old. Methodology. clinical follow ­ up with extensive studies to rule out other similar pathologies. Final diagnosis was done through genetic studies done at Johns Hopkins Hospital by Nogee LM. Objective. To present a detailed evolution description of twelve years' follow-up with the support of the aforementioned studies, to suggest a change in diagnostic ­ prognostic paradigm on what was known of mortality in this severe pulmonary interstitial pathology to improve life quality and possibly prognosis. Present the findings of genetics, pathological anatomy and radiology in consultations and evaluations by reference centers. Results. Having made her diagnosis of genetic ABCA3 deficiency, we present her up dated follow-up until 2020. This should be suspected in young children from birth and during the first years due to the persistence of chronic pulmonary symptoms with oxygen desaturation and tomographic images that suggest interstitial symptoms. It was decided to treat the condition in the years 2019-2020, for six months, according to the bibliography and consultations with reference centers in the United States, in order to determine the possible improvement of her pathology and decide to continue or suspend the medication. Pulses with methylprednisolone hydroxychloroquine and azithromycin were used. Her lung function was stable and her quality of life significantly improved. (AU)


Subject(s)
Humans , Female , Adolescent , Lung Diseases, Interstitial/diagnosis , Lung Diseases, Interstitial/genetics , ATP-Binding Cassette Transporters/genetics , Follow-Up Studies , Lung Diseases, Interstitial/therapy , Diagnosis, Differential , Genetic Association Studies
13.
J. appl. oral sci ; 28: e20190583, 2020. tab, graf
Article in English | LILACS, BBO | ID: biblio-1090773

ABSTRACT

Abstract Genetic and epigenetic changes have been associated with periodontitis in various genes; however, little is known about genes involved in epigenetic mechanisms and in oxidative stress. Objective: This study aims to investigate the association of polymorphisms C677T in MTHFR (rs1801133) and −149C→T in DNMT3B (rs2424913), as well as the methylation profiles of MTHFR, miR-9-1, miR-9-3, SOD1, and CAT with periodontitis. The association between polymorphisms and DNA methylation profiles was also analyzed. Methodology: The population studied was composed of 100 nonsmokers of both sexes, divided into healthy and periodontitis groups. Genomic DNA was extracted from the epithelial buccal cells, which were collected through a mouthwash. Polymorphism analysis was performed through polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), while methylation-specific PCR (MSP) or combined bisulfite restriction analysis techniques were applied for methylation analysis. Results: For DNMT3B, the T allele and the TT genotype were detected more frequently in the periodontitis group, as well as the methylated profile on the miR-9-1 promoter region. There was also a tendency towards promoter region methylation on the CAT sequence of individuals with periodontal disease. Conclusion: The polymorphism −149C→T in DNMT3B (rs2424913) and the methylated profile of the miR-9-1 promoter region are associated with periodontitis.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Periodontitis/genetics , Polymorphism, Genetic , DNA Methylation/genetics , MicroRNAs/genetics , DNA (Cytosine-5-)-Methyltransferases/genetics , Polymorphism, Restriction Fragment Length , Catalase/genetics , Case-Control Studies , Polymerase Chain Reaction , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Genetic Association Studies , Superoxide Dismutase-1/genetics , Genotype
14.
An. bras. dermatol ; 94(6): 658-663, Nov.-Dec. 2019. tab, graf
Article in English | LILACS | ID: biblio-1054887

ABSTRACT

Abstract Background: Palmoplantar pustulosis is considered to be a localized pustular psoriasis confined to the palms and soles. Mutation of the IL36RN gene, encoding interleukin-36 receptor antagonist (IL-36Ra), is associated with generalized pustular psoriasis, but IL36RN mutations in Chinese palmoplantar pustulosis patients have not previously been investigated. Objective: The aim of this study was to evaluate the mutation of IL36RN in Chinese patients with palmoplantar pustulosis. Methods: Fifty-one Han Chinese patients with palmoplantar pustulosis were recruited. All exons and exon-intron boundary sequences of IL36RN were amplified in polymerase chain reactions, and Sanger sequencing of the amplicons was performed. Results: Among the 51 palmoplantar pustulosis patients, four different single-base substitutions were identified in nine patients. The mutations were c.140A>G/p.Asn47Ser in five patients, c.258G>A/p.Met86IIe in two patients, and c.115+6T>C and c.169G>A/p.Val57IIe in one patient each. All mutations were heterozygous. Comparison with the human genome database and reported literature suggested that these variants may not be pathogenic mutations causing palmoplantar pustulosis. Furthermore, there was no difference in disease severity, onset age, or disease duration between patients with these heterozygous IL36RN variants and those without (p > 0.1). Study limitation: Lack of the further evaluation of IL36Ra protein in palmoplantar pustulosis lesions. Conclusions: The four variants of IL36RN identified did not appear to be associated with the specific phenotypes of palmoplantar pustulosis.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Psoriasis/genetics , Interleukins/genetics , Mutation , Phenotype , Psoriasis/pathology , China , Sequence Analysis, DNA , Statistics, Nonparametric , Asian People/genetics , Amplified Fragment Length Polymorphism Analysis , Genetic Association Studies , Foot Dermatoses/genetics , Foot Dermatoses/pathology , Hand Dermatoses/genetics , Hand Dermatoses/pathology , Heterozygote
15.
Arq. bras. oftalmol ; 82(6): 501-506, Nov.-Dec. 2019. tab
Article in English | LILACS | ID: biblio-1038690

ABSTRACT

ABSTRACT Purpose: To investigate the potential associations between keratoconus and catalase rs1001179, superoxide dismutase 2 rs4880, and glutathione peroxidase 1 rs1050450 gene polymorphisms in a Turkish population. Methods: The study group included 121 unrelated keratoconus patients and 94 unrelated healthy controls. Blood samples (200 ml) were collected from all patients and controls to isolate genomic DNA. Genotyping was performed to identify rs1001179, rs4880, and rs1050450 using real-time polymerase chain reaction (PCR). Genotype and allele frequencies were calculated; their associations with keratoconus risk were assayed, and the association with keratoconus risk and demographic factors was examined. Results: Glutathione peroxidase 1 rs1050450 polymorphism was present in 41% cases compared with 29% controls (OR=1.66; 95% CI=1.11-2.50; p=0.014). No association was observed between catalase rs1001179 and SOD2 rs4880 polymorphisms and keratoconus (for all, p>0.05). Conclusions: This study evaluated possible relationships between rs1050450, rs1001179, and rs4880 polymorphisms and keratoconus susceptibility. We found a possible association between glutathione peroxidase 1 rs1050450 polymorphism and an increased risk of keratoconus. However, the genotype and allele frequencies were identical in the catalase rs1001179 and superoxide dismutase 2 rs4880 polymorphisms. Further studies are needed to analyze the effect of such variations in identifying keratoconus susceptibility.


RESUMO Objetivo: Investigar as possíveis associações entre o ceratocone e os polimorfismos rs1001179 da catalase, rs4880 da superóxido-dismutase 2 e rs1050450 da glutationa-peroxidase 1 rs1050450 em uma população turca. Métodos: O grupo de estudo incluiu 121 pacientes com ceratocone não relacionados e 94 controles saudáveis também sem pa rentesco. Amostra de sangue (200 mL) foram coletadas de todos os pacientes e controle para isolar o DNA genômico. A genotipagem foi realizada para identificar rs1001179, rs4880 e rs1050450 utilizando a reação em cadeia da polimerase (PCR) em tempo real. As frequências de genótipos e alelos foram calculadas, suas associações com o risco de ceratocone foram avaliadas, e a associação com risco de ceratocone e fatores demográficos foi examinada. Resultados: O polimorfismo da glutationa-peroxidase 1 rs1050450 estava presente em 41% dos casos, comparado com 29% dos controles (OR=1,66, IC 95%=1,11-2,50; p=0,014). Não foi observada associação entre o ceratocone e os polimorfismos rs1001179 e SOD2 rs4880 da catalase (para todos, p>0,05). Conclusões: Este estudo avaliou possíveis relações entre os polimorfismos rs1001179, rs4880 e suscetibilidade a cerato cone. Encontramos uma possível associação entre po limorfis mo da glutationa-peroxidase 1 rs1050450 e um risco aumentado de ceratocone. No entanto, o genótipo e as frequências alélicas foram idênticas nos polimorfismos rs1001179 da catalase e superóxido-dismutase 2 rs4880. Mais estudos são necessários para esclarecer o efeito dessas va riações na detecção da sus cetibilidade ao ceratocone.


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Young Adult , Polymorphism, Single Nucleotide/genetics , Glutathione Peroxidase/genetics , Keratoconus/genetics , Reference Values , Superoxide Dismutase/genetics , Turkey , Catalase/genetics , Case-Control Studies , Polymerase Chain Reaction , Risk Factors , Genetic Association Studies , Genotyping Techniques , Gene Frequency
16.
Int. braz. j. urol ; 45(5): 901-909, Sept.-Dec. 2019. tab, graf
Article in English | LILACS | ID: biblio-1040082

ABSTRACT

ABSTRACT Purpose It has been reported that calcitonin receptor (CALCR) gene polymorphisms might be associated with calcium stone urolithiasis. Owing to mixed and inconclusive results, we conducted a meta-analysis to summarize and clarify this association. Materials and Methods A systematic search of studies on the association between CALCR gene polymorphisms and calcium stone urolithiasis susceptibility was conducted in databases. Results Odds ratios and 95% confidence intervals were used to pool the effect size. Five articles were included in our meta-analysis. Conclusions CALCR rs1801197 might be associated with increased risk of calcium stone urolithiasis. There is insufficient data to fully confirm the association between CALCR rs1042138 and calcium stone urolithiasis susceptibility. Well-designed studies with larger sample size and more subgroups are required to validate the risk identified in the current meta-analysis.


Subject(s)
Humans , Male , Female , Receptors, Calcitonin/genetics , Polymorphism, Single Nucleotide , Urolithiasis/genetics , Calcium/metabolism , Risk Factors , Risk Assessment , Genetic Association Studies
17.
Rev. méd. Chile ; 147(8): 965-976, ago. 2019. tab, graf
Article in Spanish | LILACS | ID: biblio-1058631

ABSTRACT

Background: Type 2 diabetes etiology has a strong genetic component. More than 20 genetic variants have been associated with diabetes and other metabolic markers. However, the polymorphism rs7903146 of the TCF7L2 gene has shown the strongest association. Aim: To investigate the association of TCF7L2 (rs7903146) genotype with adiposity and metabolic markers in the Chilean adult population. Material and Methods: The association of TCF7L2 (rs7093146) with adiposity and metabolic markers was studied in 301 participants. The outcomes of the study were adiposity markers (body weight, body mass index (BMI), fat mass and waist circumference) and metabolic markers (blood glucose, insulin, HOMA-IR, lipid profile, high sensitivity C-reactive protein (CRP), alanine aminotransferase (ALT), gamma glutamyl transpeptidase (GGT) and leptin). Results: There was an association between the polymorphism TCF7L2 genotype and fasting blood glucose. The latter increased by 4.86 mg/dl per each copy of the risk allele [(95% confidence intervals (CI): 0.48; 9.24), p = 0.03] in the unadjusted adjusted model. However, this association was slightly attenuated in the fully adjusted model [4.38 mg/dl (95% IC: 0.16; 8.60), p = 0.04)]. There were no associations between the TCF7L2 genotype and any other metabolic or adiposity outcome. Conclusions: These findings confirm the association between the TCF7L2 (rs7903146) and fasting glucose in the Chilean population. However, further studies are needed to confirm the association between the TCF7L2 and diabetes risk in the Chilean population.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Young Adult , Polymorphism, Single Nucleotide , Diabetes Mellitus, Type 2/genetics , Adiposity/genetics , Transcription Factor 7-Like 2 Protein/genetics , Reference Values , Blood Glucose/genetics , Genetic Markers , Linear Models , Chile , Anthropometry , Nutritional Status , Cross-Sectional Studies , Risk Factors , Diabetes Mellitus, Type 2/metabolism , Alleles , Adiposity/ethnology , Genetic Association Studies , Gene Frequency , Genotype
18.
An. bras. dermatol ; 94(4): 429-433, July-Aug. 2019. tab
Article in English | LILACS | ID: biblio-1038308

ABSTRACT

Abstract: Background: Behçet disease is a prototypical systemic autoimmune disease, caused by a complex interplay between environmental and genetic factors. The transmembrane immunoglobulin and mucin domain-3 (TIM-3) is a distinct member of the TIM family that is preferentially expressed on Th1 cells and plays a role in Th1-mediated autoimmune or inflammatory diseases, such as Behçet disease. Objective: The aim of this study was to test the potential association between TIM-3 gene polymorphisms and Behçet disease. Methods: Two single-nucleotide polymorphisms of TIM-3 (rs9313439 and rs10515746) were genotyped in 212 patients with Behçet disease and 200 healthy controls. Typing of the polymorphisms was performed using multiplex PCR amplification. Results: There were no significant differences in allele and genotype frequencies between the Behçet disease patients and controls who were successfully genotyped. Similar results were also found after stratification by gender, age, or clinical features. Study limitations: Lack of studies on various racial or ethnic groups and small sample size. Conclusion: This study failed to demonstrate any association between the tested TIM-3 polymorphisms and Behçet disease.


Subject(s)
Humans , Male , Female , Adult , Behcet Syndrome/genetics , Polymorphism, Single Nucleotide , Hepatitis A Virus Cellular Receptor 2/genetics , Case-Control Studies , Logistic Models , Risk Factors , Risk Assessment , Alleles , Genetic Association Studies , Multiplex Polymerase Chain Reaction , Gene Frequency , Iran
19.
Rev. ADM ; 76(3): 156-161, mayo-jun. 2019. ilus, tab
Article in Spanish | LILACS | ID: biblio-1022128

ABSTRACT

Durante el crecimiento y desarrollo de la cabeza, ésta lo hace en diferentes direcciones y proporciones, habiendo un límite entre la armonía /desarmonía conocido como umbral. Se hace referencia a este concepto, la forma de escribirlo y leerlo por medio de un código que lo simboliza. Objetivo: Poner al alcance de la comunidad médica un código de lectura e identificación de fenotipos craneofaciales sindrómicos y no sindrómicos. Conclusiones: Se considera que este concepto de umbral craneofacial y su código de lectura pueden ser usados en la enseñanza e investigación de la armonía-desarmonía durante el crecimiento y desarrollo de la cabeza, resultando ser de gran utilidad en la comprensión rápida y sencilla de la lectura del fenotipo craneofacial (AU)


During the growth and development of the head, it does so in different directions and proportions, there being a limit between the harmony / disharmony known as threshold. Reference is made to this concept, the way of writing it and reading it by means of a code that symbolizes it. Objective: To put within reach of the medical community, a code of reading and identification of syndromic and non-syndromic craniofacial phenotypes. Conclusions: It is considered that this concept of a craniofacial threshold and its reading code can be used in the teaching and research of harmony / disharmony during the growth and development of the head, being very useful in the quick and easy comprehension of the reading of the craniofacial phenotype (AU)


Subject(s)
Humans , Phenotype , Multifactorial Inheritance , Maxillofacial Development , Prognathism , Retrognathia , Cephalometry , Craniofacial Abnormalities/classification , Civil Codes , Genetic Association Studies , Head/growth & development , Malocclusion/classification
20.
Rev. Assoc. Med. Bras. (1992) ; 65(6): 786-790, June 2019. tab, graf
Article in English | LILACS | ID: biblio-1012975

ABSTRACT

SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.


RESUMO OBJETIVO: Este estudo teve como objetivo avaliar a associação genética do número de cópias em dois genes (PRKAB2 e PPM1K) localizados em duas regiões (tetralogia de Fallot e comunicação interventricular) em uma população chinesa da etnia Han. METODOLOGIA: Um total de 200 pacientes com doença cardíaca congênita (100 pacientes com tetralogia de Fallot e 100 com comunicação interventricular) e 100 indivíduos livres de defeitos cardíacos congênitos foram recrutados, e uma análise quantitativa de PCR em tempo real foi utilizada para replicar a associação de duas variações de número de cópia de defeitos cardíacos congênitos, em uma população chinesa da etnia Han. RESULTADOS: Uma supressão em PRKAB2 e duplicação em PPM1K foram encontradas em dois pacientes com tetralogia de Fallot, respectivamente; todas essas regiões estavam duplicadas nos pacientes com comunicação interventricular e nos 100 indivíduos livres de defeitos cardíacos congênitos. CONCLUSÃO: Nós replicado a variações no número de cópias de genes candidatos de doença PRKAB2 e PPM1K com tetralogia de Fallot em uma população chinesa da etnia Han; em pacientes com comunicação interventricular, não foram encontradas mutações nesses dois genes. Estes resultados indicam que a mesma genética de população molecular existe nestes dois genes em diferentes etnias. Isso mostra que esses dois genes são possivelmente candidatos a genes específicos de tetralogia de Fallot.


Subject(s)
Humans , Tetralogy of Fallot/genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics , AMP-Activated Protein Kinases/genetics , DNA Copy Number Variations , Heart Septal Defects, Ventricular/genetics , Reference Values , Case-Control Studies , Genetic Association Studies , Real-Time Polymerase Chain Reaction
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