Genetic polymorphism of the CYP2C19 gene in the Foshan area of Guangdong Province

Abstract Background: The CYP2C19 gene is highly polymorphic, and CYP2C19 is involved in the broad interindividual variability of the clinical efficacy of certain clinical medications, such as clopidogrel. However, data on the CYP2C19 genotype in the Chinese population of the Foshan area of Guangdong Province are scarce. The purpose of this study was to determine CYP2C19 genetic polymorphisms in patients in the Foshan area and to compare the CYP2C19 genotype frequencies in different populations to determine the allele distribution pattern to identify the most appropriate prescription. Methods: The CYP2C19 gene was detected in 1231 patients on a gene chip platform, and the genotype frequencies of CYP2C19 in Foshan populations from different populations were compared. Results: The frequencies of CYP2C19*1, *2 and *3 in the Foshan population were 63.89%, 30.46% and 5.65%, respectively. For the three metabolic types, the frequency associated with the rapid metabolism type (*1/*1) was 41.51 [95% confidence interval (CI) 40.11 to 42.91%]; that for the intermediate metabolism type (*1/*2, *1/*3) was 44.76% (95% CI 43.34 to 46.18and that for the slow metabolism type (*2/*2, *2/*3, *3/*3) was 13.73% (95% CI 12.75 to 14.71%). In the Foshan population, the frequencies of the CYP2C19 *2 and *3 alleles were similar to those previously reported for Chinese and other Asian populations. Conclusion: Our study the genetic basis of CYP2C19 polymorphism in the Foshan population. Our results will potentially contribute to the improvement of pharmacotherapy effectiveness by providing personalized medicine for the Foshan population. Key words: Polymorphism; Genetic; Pharmacogenetics

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ESTUDIO MORFOLÓGICO DEL PTERION Y ASTERION EN CRÁNEOS ADULTOS MEXICANOS. Estudio morfológico del pterion y asterion en cráneos adultos mexicanos

Revista Argentina de Anatomía Clínica ◽

10.31051/1852.8023.v3.n2.13923 ◽

2016 ◽

Vol 3 (2) ◽

pp. 77-83

Author(s):

Rodolfo Morales Ávalos ◽

Mario v Aguilar Alvarado ◽

Rodrigo E Elizondo Omaña ◽

Santos Guzmán López

Keyword(s):

Physical Anthropology ◽

Lateral View ◽

Mastoid Process ◽

Posterior Edge ◽

Mandibular Fossa ◽

Different Populations ◽

Mexican Adults ◽

Morphological Differences

Introducción. El pterion y asterion son puntos craneométricos de confluencia sutural observables en una vista lateral del cráneo, ambos representan puntos de referencia y/o acceso dentro del campo de la neurocirugía así como puntos de importancia dentro de la antropología física y medicina legal por sus diferencias morfológicas entre las diferentes poblaciones. Materiales y Métodos. Se examinaron ochenta y cinco cráneos secos de adultos mexicanos bilateralmente, se obtuvieron las distancias promedio entre el centro del pterion y el borde posterior de la sutura frontocigomática, borde superior del arco cigomático, base de la fosa mandibular, vértice de la apófisis mastoides y el centro del asterion. Resultados. Se identificaron cuatro tipos de pterion: esfenoparietal (90%), estellar (4.12%), epiptérico (3.53%) y frontotemporal (2.35%). Se identificaron dos tipos de asterion: tipo 1 (7.06%) y tipo 2 (92.94%). Conclu-siones. Los resultados obtenidos en la morfología sutural de ambos puntos y los resultados de las mediciones son de importancia para el abordaje neuroquirúrgico del cráneo, patólogos forenses y antropólogos. Introduction. Pterion and asterion are craniometrical landmarks of sutural confluence observable in a lateral view of the skull. Both represent points of reference and/or access in the field of neurosurgery, and are aspects of importance in disciplines such as physical anthropology and legal medicine for the morphological differences between the different populations. Materials and Methods. Examinations were conducted bilaterally in 85 (eighty five) dry skulls from Mexican adults. The average distances were obtained from the center of the pterion to the following landmarks: posterior edge of the frontozygomatic suture, superior edge of the zygomatic arch, base of the mandibular fossa, vertex of the mastoid process and the center of the asterion. Results. Four types of pterion were identified: sphenoparietal (90%), stellar (4.12%), epipteric (3.53%) and frontotemporal (2.35%). Two types of asterion were identified: type 1 (7.06%) and type 2 (92.94%). Conclusions. The results obtained in the analysis of the sutural morphology of both landmarks and the results of the measurements are of importance for the neurosurgical access of the skull, and are as well relevant to forensic pathologists and anthropologists.

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The four populations of myoblasts involved in human limb muscle formation are present from the onset of primary myotube formation

Journal of Cell Science ◽

10.1242/jcs.112.2.191 ◽

1999 ◽

Vol 112 (2) ◽

pp. 191-199 ◽

Cited By ~ 3

Author(s):

F. Edom-Vovard ◽

V. Mouly ◽

J.P. Barbet ◽

G.S. Butler-Browne

Keyword(s):

Subsequent Development ◽

Relative Number ◽

Myosin Heavy Chain Isoforms ◽

Muscle Formation ◽

Different Populations ◽

Human Limb ◽

Type 3 ◽

Myogenic Precursor

To understand how and when myogenic precursor cells become committed to their particular developmental programs, we have analysed the different populations of myoblasts which grow out from explants of muscle tissue isolated from human limb buds from the beginning of primary fibre formation throughout subsequent development and post-natal growth. Four phenotypically distinct types of myoblasts were identified on the basis of their expression of desmin, myogenin and myosin heavy chain isoforms (MyHC), and after 5 and 20 divisions, cells were cloned. All four types of myoblasts were present at the beginning of primary myogenesis. Each respective phenotype was stably heritable through cloning and subsequent proliferation. The type 1 clones correspond to a novel class of myoblasts never described during human development, that biochemically differentiates, but does not fuse. Type 2 clones are composed of small myotubes expressing only embryonic MyHC. Type 3 clones are composed of thin and long myotubes expressing both embryonic and fetal MyHCs. The type 4 clones are composed of myotubes that have a phenotype very similar to human satellite cells. Contrasting with others species, no other population of myoblasts appear during fetal development and only the relative number of these four types changes.

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Diabetes in South Asians

Oxford Textbook of Endocrinology and Diabetes ◽

10.1093/med/9780199235292.003.1401 ◽

2011 ◽

pp. 1799-1803

Author(s):

A. Ramachandran ◽

C. Snehalatha

Keyword(s):

South Asian ◽

Indian Subcontinent ◽

South Asians ◽

Stress Factors ◽

Rapid Urbanization ◽

Asian Populations ◽

Adults And Children ◽

Diabetic Population

Developing countries, mainly in the Indian subcontinent and China, contribute nearly 80% to the rising global diabetic population. Conservative estimates, based on population growth, ageing of population, and rate of urbanization in Asia, show that India and China will remain the top two countries with the highest number of people with diabetes by 2025: 71 and 38 million, respectively. Two other South Asian countries, Pakistan and Bangladesh, also are in the top ten list. The South Asian populations of Bangladesh, Bhutan, India, the Maldives, Nepal, Pakistan, and Sri Lanka are racially heterogeneous, but all have high risk for diabetes and cardiovascular diseases. Type 1 diabetes is relatively less common, and nearly 95% of all diabetic cases in these regions are type 2 diabetes. The steady rise in the prevalence of diabetes seen in last three decades coincides with rapid urbanization and industrialization, and associated sociological and political changes, occurring in these countries (1). Among the populations, physical activity has reduced significantly, intake of energy-dense food has increased, and mental and physical stress factors associated with urban living have also increased. A tilt in the energy balance towards conservation and fat deposition has contributed to the alarming increase in the rate of obesity, both in adults and children.

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Genotype frequencies of polymorphic MDR1 variants in the Kazakhstani population

Central Asian Journal of Global Health ◽

10.5195/cajgh.2013.118 ◽

2014 ◽

Vol 2 ◽

Cited By ~ 1

Author(s):

Samat Kozhakhmetov ◽

Adil Supiyev ◽

Almagul Kushugulova ◽

Indira Tynybayeva ◽

Alibek Kossumov ◽

...

Keyword(s):

Allele Frequency ◽

Systemic Exposure ◽

Published Data ◽

Salting Out ◽

Asian Populations ◽

Synonymous Codons ◽

Genotype Frequencies ◽

Diagnostic Center ◽

Different Populations ◽

The Common

Introduction: Statins appear to be handled by an ATP-dependent membrane transporter and three SNPs (C1236T (rs1128503), G2677T (rs2032582), and C3435T (rs1045642), which capture the common genetic variation at this locus. Individuals, who carry the T allele at each SNP (i.e., the T-T-T haplotype), have higher systemic exposure to simvastatin.A triallelic thymine (T) - guanine (G) - adenine (A), which is a point mutation at nucleotide 2677 in exon 22, leads to ABCB1 in a non-synonymous codons (GCT alanine, TCT serine, threonine ACT) at position 893 in a cytoplasmic loop of ATP-dependent membrane transporters.Methods: Blood samples from healthy individuals were collected in the Republican Diagnostic Center, Astana, Kazakhstan. The research samples included 461 healthy people. Genomic DNA was extracted from peripheral blood using the ‘salting out’ procedure. For the MDR1 exon 21, 2677G˃T/A (Ala893Ser/Thr) polymorphism was genotyped by PCR sequencing by the use of dye-terminator (ABI 3730xl sequencer). Results: The GG allele appeared in 23% of samples, the GA in 6.7%, the GT in 44%, the non-G heterozygote in 4.5%, and the non-G homozygote in 18%. These results are consistent with previously published data. Importantly, the frequency of 2677T alleles in our group was 15.4%. This represents the lowest frequency of this allele compared to published data in different populations. The frequency of the 2677T allele in Asians and Caucasians varies from 38 to 62%, and is 15% for African Americans. On the other hand, the 2677A allele frequency in the Japanese varies from 15 to 22%, and in Caucasians from 2% and 4%. The 2677A allele frequency has been found in 4.6% of samples. Conclusions: Our study further emphasizes differences between various Asian populations and the importance of repeating this genetic study in different ethnic groups.

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Novel EPHB4 mutation in capillary malformation-arteriovenous malformation syndrome 2 (CM-AVM2): the first genetic study in Asians

10.21203/rs.3.rs-60236/v1 ◽

2020 ◽

Author(s):

Yuanbo Li ◽

Yi Sun ◽

Xiaojing Zeng ◽

Yun Liu ◽

Fatao Liu ◽

...

Keyword(s):

Arteriovenous Malformation ◽

Vascular Malformation ◽

Loss Of Function ◽

Genetic Studies ◽

Malformation Syndrome ◽

Asian Populations ◽

Capillary Malformation ◽

Fast Flow

Abstract Capillary malformation-arteriovenous malformation syndrome (CM-AVM), a rare vascular malformation, is autosomal dominant and characterized by hereditary capillary malformations (CMs) and potential fast-flow vascular malformation underlying CMs in around one-third of patients, affecting approximately 0.3-0.5% of newborns. CM-AVM was first discovered in association with germline RASA-1 mutation and termed CM-AVM type 1 in 2003. Later, germline EPHB4 mutations were detected in RASA-1-negative CM-AVMs, also known as CM-AVM type 2. Although there have been recent genetic studies confirming the molecular basis of CM-AVM, few have focused on Asian populations, leading to the lack of comprehensive molecular profiling. In this study, we report a female patient diagnosed as CM-AVM2 with a novel stop-gain mutation causing loss of function of the EPHB4 gene. As far as we know, this is the first genetic report of germline EPHB4 loss-of-functional mutation related CM-AVM 2 in Asians, extending our understanding of CM-AVM.

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P25 Polymorphism of CYP2C19 is associated with poor platelet response to clopidogrel and indirectly affect TIMIi-flow among asian patients with STEMI undergoing primary PCI

European Heart Journal ◽

10.1093/ehjci/ehz872.027 ◽

2020 ◽

Vol 41 (Supplement_1) ◽

Author(s):

A Kemalasari ◽

R Sukmawan ◽

S Adiarto

Keyword(s):

Platelet Reactivity ◽

Primary Pci ◽

Platelet Response ◽

Asian Populations ◽

Asian Patients ◽

Timi Flow ◽

Cyp2c19 Polymorphism ◽

Cyp2c19 Gene ◽

Verifynow Assay ◽

P2y12 Reaction Unit

Abstract Background The platelet response to clopidogrel treatment is very important in patients with myocardial infarction undergoing primary PCI. Asian populations have been shown to have higher proportion of CYP2C19 gene polymorphism that may alter biotransformation of clopidogrel, than Caucasians. However, It is unclear whether platelet reactivity measured by P2Y12 reaction unit (PRU) is affected by CYP2C19 polymorphism, and whether it will impair coronary flow among Asian patients with STEMI after primary PCI. Purpose: We sought to define whether polymorphisms on CYP2C19 genes will affect platelet reactivity response to Clopidgrel therapy, and whether subsequently it will affect the TIMI flow in Asian patients with STEMI undergoing primary PCI. Method: We studied 90 patients with STEMI receiving 600 mg loading dose of clopidogrel prior to primary PCI. High-on-treatment platelet reactivity was evaluated using the VerifyNow Assay. Patients with platelet reactivity more than 208 PRU are categorized as non-responders to Clopidogrel. Genotyping of CYP2C19 was performed by real-time polymerase chain reaction (PCR). Post primary PCI TIMI flow was categorized into good (TIMI flow 3), and impaired (TIMI flow <3). Results: Among all 90 patients (median age = 54.5 years old; 93.3% male), there were 36.6 % patients with CYP2C19 polymorhisms, carrying *2 or *3 alleles. Platelet reactivity test revealed 23.4% of all patients were Clopidogrel non-responders. Multivariate analysis showed CYP2C19 polymorphism is associated with Clopidogrel non-reponders (OR 4.7, p = 0.030), along with other factors such as: Diabetes, Renal impairment, and use of proton pump inhibitor drugs. After successful stent implantation during primary PCI, there were 24.4% patients still with TIMI flow < 3. There was no direct correlation between CYP2C19 polymorphism and TIMI flow < 3 after primary PCI. However, we found significant association between Clopidogrel non-reponders and TMI flow < 3 after primary PCI in those STEMI patients (OR 3.3, p = 0.046). Conclusions: In Asian patients with STEMI receiving clopidogrel prior to primary PCI, the CYP2C19 polymorphisms is associated with poor platelet response to Clopidogrel therapy. The Clopidogrel non-responders is associated with impaired TIMI flow after primary PCI.

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Association of Small Ubiquitin-Like Modifier 4 (SUMO4) Variant, Located in IDDM5 Locus, with Type 2 Diabetes in the Japanese Population

The Journal of Clinical Endocrinology & Metabolism ◽

10.1210/jc.2007-0031 ◽

2007 ◽

Vol 92 (6) ◽

pp. 2358-2362 ◽

Cited By ~ 18

Author(s):

Shinsuke Noso ◽

Tomomi Fujisawa ◽

Yumiko Kawabata ◽

Katsuaki Asano ◽

Yoshihisa Hiromine ◽

...

Keyword(s):

Type 2 Diabetes ◽

Odds Ratio ◽

Japanese Population ◽

Epidemiological Data ◽

Strong Linkage Disequilibrium ◽

Nucleotide Polymorphisms ◽

Diabetes Susceptibility ◽

Asian Populations

Abstract Context: Despite distinct differences in the pathogenesis, epidemiological data have indicated familial clustering of type 1 and type 2 diabetes, suggesting a common genetic basis between these two types of diabetes. Few shared susceptibility genes, however, have been reported to date. Objective: Small ubiquitin-like modifier 4 (SUMO4) has been identified as a candidate gene for the IDDM5 locus and suggested to have possible involvement in immune responses, such as autoimmunity and inflammation. Recent reports demonstrated that a polymorphism with an amino acid substitution (Met55Val) in SUMO4 was associated with type 1 diabetes in Asian populations, although no association was reproduced in subjects of Caucasian descent. The present study aimed to clarify the contribution of SUMO4 to type 2 diabetes susceptibility in the Japanese population. Subjects: The 753 subjects included 355 cases and 398 control subjects. Methods: The SUMO4 Met55Val (rs237025) and 001Msp (rs577001) polymorphisms were genotyped. Results: Strong linkage disequilibrium (D′: 1.0 in each pair of single-nucleotide polymorphisms) across the MAP3K7IP2/SUMO4 region was shown in the Japanese population. The frequency of genotypes with the G allele of the SUMO4 Met55Val polymorphism was significantly higher in patients with type 2 diabetes [odds ratio, 1.46; 95% confidence interval (CI), 1.08–1.93; P = 0.01, χ2 test]. The association was concentrated in patients without insulin therapy (odds ratio, 1.56; 95% CI, 1.13–2.15; P = 0.0072), but not in those with insulin (odds ratio, 1.24; 95% CI, 0.81–1.89; not significant). Conclusions: These data, together with previous reports, suggest the contribution of the SUMO4 Met55Val polymorphism to both type 1 and type 2 diabetes susceptibility in the Japanese population.

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