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Fulltext Genetic Variation, Heritability, and Diversity Analysis of Upland Rice (Oryza sativa L.) Genotypes Based on Quantitative Traits

Tuhina-Khatun M, Hanafi MM, Rafii Yusop M, Wong MY, Salleh FM, Ferdous J

Biomed Res Int, 2015;2015:290861.
PMID: 26258135 DOI: 10.1155/2015/290861

Upland rice is important for sustainable crop production to meet future food demands. The expansion in area of irrigated rice faces limitations due to water scarcity resulting from climate change. Therefore, this research aimed to identify potential genotypes and suitable traits of upland rice germplasm for breeding programmes. Forty-three genotypes were evaluated in a randomised complete block design with three replications. All genotypes exhibited a wide and significant variation for 22 traits. The highest phenotypic and genotypic coefficient of variation was recorded for the number of filled grains/panicle and yields/plant (g). The highest heritability was found for photosynthetic rate, transpiration rate, stomatal conductance, intercellular CO₂, and number of filled grains/panicle and yields/plant (g). Cluster analysis based on 22 traits grouped the 43 rice genotypes into five clusters. Cluster II was the largest and consisted of 20 genotypes mostly originating from the Philippines. The first four principle components of 22 traits accounted for about 72% of the total variation and indicated a wide variation among the genotypes. The selected best trait of the number of filled grains/panicle and yields/plant (g), which showed high heritability and high genetic advance, could be used as a selection criterion for hybridisation programmes in the future.

Matched MeSH terms: Genotype
Fulltext Recent Developments in Transplantation and Transfusion Medicine

Edinur HA, Chambers GK, Dunn PP

Ann. Transplant., 2015;20:424-9.
PMID: 26218888 DOI: 10.12659/AOT.894003

Transplantation and transfusion are related and clinically important areas of multidisciplinary expertise, including pre-operative treatment, donor recruitment, tissue matching, and post-operative care. We have seen significant developments in these areas, especially in the late 20th and early 21st century. This paper reviews the latest advances in modern transplantation and transfusion medicine, including several new genetic markers (e.g., major histocompatibility complex class I chain-related gene A, killer cell immunoglobulin-like receptor, and human platelet antigens) for donor and recipient matching, genotyping platforms (e.g., next-generation sequencer and Luminex technology), donor recruitment strategies, and several clinical applications in which genotyping has advantages over agglutination tests (e.g., genotyping of weakly expressed antigens and determination of blood groups and human leukocyte antigen types in multi-transfused patients). We also highlight the roles of population studies and international collaborations in moving towards more efficient donor recruitment strategies.

Matched MeSH terms: Genotype
Fulltext Lack of Association between the Serotonin Transporter (5-HTT) and Serotonin Receptor (5-HT2A) Gene Polymorphisms with Smoking Behavior among Malaysian Malays

Rozak NI, Ahmad I, Gan SH, Abu Bakar R

Sci Pharm, 2014 07 18;82(3):631-42.
PMID: 25853073 DOI: 10.3797/scipharm.1406-01

An insertion/deletion polymorphism in the promoter region of the serotonin transporter gene (5-HTTLPR) and a polymorphism (rs6313) in the serotonin 2A receptor gene (5-HT2A) have previously been linked to smoking behavior. The objective of this study was to determine the possible association of the 5-HTTLPR and 5-HT2A gene polymorphisms with smoking behavior within a population of Malaysian male smokers (n=248) and non-smokers (n=248). The 5-HTTLPR genotypes were determined using the polymerase chain reaction (PCR) and were classified as short (S) alleles or long (L) alleles. The 5HT2A genotypes were determined using PCR-restriction fragment length polymorphisms (PCR-RFLP). No significant differences in the distribution frequencies of the alleles were found between the smokers and the non-smokers for the 5-HTTLPR polymorphism (x(2) = 0.72, P>0.05) or the 5HT2A polymorphism (x(2) = 0.73, P>0.05). This is the first study conducted on Malaysian Malay males regarding the association of 5-HTTLPR and 5HT2A polymorphisms and smoking behavior. However, the genes were not found to be associated with smoking behavior in our population.

Matched MeSH terms: Genotype
Short report: a major genotype of Japanese encephalitis virus currently circulating in Japan

Ma SP, Yoshida Y, Makino Y, Tadano M, Ono T, Ogawa M

Am J Trop Med Hyg, 2003 Aug;69(2):151-4.
PMID: 13677370

A 240-nucleotide sequence of the capsid/premembrane gene region of 23 Japanese encephalitis virus (JEV) strains isolated in Tokyo and Oita, Japan was determined and phylogenetic analyses were performed. All the strains clustered into two distinct genotypes (III and I). All strains isolated before 1991 belonged to genotype III, while those isolated after 1994 belonged to genotype I. In addition, the strains of the genotype I isolated in Japan showed a close genetic relationship with those from Korea and Malaysia.

Matched MeSH terms: Genotype
Fulltext The incidence of human herpesvirus 6 infection in children with febrile convulsion admitted to the University Hospital, Kuala Lumpur

Chua KB, Lam SK, AbuBakar S, Koh MT, Lee WS

Med J Malaysia, 1997 Dec;52(4):335-41.
PMID: 10968110

From October 1996 to March 1997, 31 children with febrile convulsions were admitted to the University Hospital, Kuala Lumpur. Human Herpesvirus 6 (HHV 6) was virologically and/or serologically confirmed to be the cause of the febrile episode in 5 of these children (16.1%). Age, sex and other associated clinical features (diarrhoea, cough, running nose and type of seizure) were not useful in differentiating cases of febrile convulsion due to HHV 6 from those of other aetiology. However, uvulo-palatoglossal junctional ulcers were noted in children in whom the cause of the seizure could be attributed to HHV 6 but not in the remaining cases in the study group. HHV 6 DNA was detected in peripheral blood mononuclear cells from all patients with febrile convulsions attributed to HHV6, and in patients shown serologically to have already been exposed to the virus by nested polymerase chain reaction amplification. Only genotype HHV 6B was detected from patients with seizure due to HHV 6 but both genotype 6A and 6B were detected in the remaining cases studied.

Matched MeSH terms: Genotype
Regional overview of bluetongue viruses in South-East Asia: viruses, vectors and surveillance

Daniels PW, Sendow I, Pritchard LI, Sukarsih, Eaton BT

Vet. Ital., 2004 Jul-Sep;40(3):94-100.
PMID: 20419642

Structured epidemiological studies based on sentinel herds in Indonesia and Malaysia have provided much information regarding the bluetongue (BT) viruses (BTV) and their likely vectors in South-East Asia. Serotypes 1, 2, 3, 7, 9, 12, 16, 21 and 23 have been isolated. Molecular analyses show all group within the Australasian topotype, with four genotypic sub-groupings identified to date. There are relationships to isolates from both India and Australia. Strains of BTV in South-East Asia do not appear to be highly virulent, since BT disease is not seen in local sheep. Known vector species identified include Culicoides fulvus, C. actoni, C. wadai and C. brevitarsis. C. imicola has not been identified in Malaysian or Indonesian studies. Molecular analyses indicate movement of South-East Asian strains of BTV into northern Australia, and the gradation in observations between India and eastern Australia regarding serotype, genotype, virulence and vector species suggests movement along a conceptual gradient through South-East Asia.

Matched MeSH terms: Genotype
A simple and rapid genotyping method for beta-2 receptor (beta2 AR) gene using allele specific multiplex PCR

Romaino SM, Teh LK, Zilfalil BA, Thong CP, Ismail AA, Amir J, et al.

J Clin Pharm Ther, 2004 Feb;29(1):47-52.
PMID: 14748897 DOI: 10.1046/j.1365-2710.2003.00535.x

Polymorphism of the beta2-adrenergic receptor (beta2 AR) gene is an important determinant of the function of this receptor. It affects receptor down-regulation and beta2-agonist responses. It has also been a focus of interest in attempts to elucidate the genetic basis of asthma, hypertension, obesity and cystic fibrosis. Several different techniques have been established to determine beta2 AR genotypes but none of these methods are simple enough to detect simultaneously all the five alleles of our research interest (Arg16/Gly16, -20T/C, Gln27/Glu27, -47T/C and Thr164/Ile164).

Matched MeSH terms: Genotype
Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency

Yang W, Lee PP, Thong MK, Ramanujam TM, Shanmugam A, Koh MT, et al.

Clin Genet, 2015 Dec;88(6):542-9.
PMID: 25534311 DOI: 10.1111/cge.12553

Familial multiple intestinal atresias is an autosomal recessive disease with or without combined immunodeficiency. In the last year, several reports have described mutations in the gene TTC7A as causal to the disease in different populations. However, exact correlation between different genotypes and various phenotypes are not clear. In this study, we report identification of novel compound heterozygous mutations in TTC7A gene in a Malay girl with familial multiple intestinal atresias and severe combined immunodeficiency (MIA-SCID) by whole exome sequencing. We found two mutations in TTC7A: one that destroyed a putative splicing acceptor at the junction of intron 17/exon 18 and one that introduced a stop codon that would truncate the last two amino acids of the encoded protein. Reviewing the recent reports on TTC7A mutations reveals correlation between the position and nature of the mutations with patient survival and clinical manifestations. Examination of public databases also suggests carrier status for healthy individuals, making a case for population screening on this gene, especially in populations with suspected frequent founder mutations.

Matched MeSH terms: Genotype
Fulltext Molecular and antimicrobial analyses of non-classical Bordetella isolated from a laboratory mouse

Loong SK, Mahfodz NH, Wali HA, Talib SA, Nasrah SN, Wong PF, et al.

J Vet Med Sci, 2016 May 3;78(4):715-7.
PMID: 26782013 DOI: 10.1292/jvms.15-0472

Accurate identification and separation of non-classical Bordetella species is very difficult. These species have been implicated in animal infections. B. hinzii, a non-classical Bordetella, has been isolated from mice in experimental facilities recently. We isolated and characterized one non-classical Bordetella isolate from the trachea and lung of an ICR mouse. Isolate BH370 was initially identified as B. hinzii by 16S ribosomal DNA and ompA sequencing. Additionally, isolate BH370 also displayed antimicrobial sensitivity profiles similar to B. hinzii. However, analyses of nrdA sequences determined its identity as Bordetella genogroup 16. The isolation of BH370 from a healthy mouse suggests the possibility of it being a commensal. The nrdA gene was demonstrated to possess greater phylogenetic resolution as compared with 16S ribosomal DNA and ompA for the discrimination of non-classical Bordetella species.

Matched MeSH terms: Genotype
The relationship between single nucleotide polymorphisms of the interleukin-10 gene promoter in systemic lupus erythematosus patients in Malaysia: A pilot study

Hee CS, Gun SC, Naidu R, Somnath SD, Radhakrishnan AK

Int J Rheum Dis, 2008;11(2):148-154.
DOI: 10.1111/j.1756-185X.2008.00350.x

Aim: Recent studies have shown that single nucleotide polymorphisms (SNPs) have been identified within the promoter of the human interleukin-10 (IL-10) gene may participate in the pathogenesis of systemic lupus erythematosus (SLE) and may be related to disease activity. This is a pilot study that investigated the allelic and genotype frequencies of three SNPs in the human IL-10 gene promoter [rs1800896 (position: -1082G > A), rs1800871 (position: -824C > T) and rs1800872 (position: -597C > A)]among Malaysian SLE patients and normal subjects. Methods: Blood was drawn from 44 SLE patients and 44 age- and sex-matched healthy control subjects for DNA extraction. The SNPs were identified using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Results: There was no significant difference in the genotype and allele frequencies between the SLE patients and control subjects. A statistically significant difference was detected in the haplotype frequencies between the patients and controls (P = 0.004). Conclusions: There is a significant difference in the haplotype frequencies between the SLE patients and controls; the SNPs in the human IL-10 gene promoter could play an important role in the pathogenesis of SLE. © 2008 Asia Pacific League of Associations for Rheumatology and Blackwell Publishing Asia Pty Ltd.

Matched MeSH terms: Genotype
Fulltext Association of IL-1 gene polymorphisms with chronic rhinosinusitis with and without nasal polyp

Mohamad S, Hamid SSA, Azlina A, Md Shukri N

Asia Pac Allergy, 2019 Jul;9(3):e22.
PMID: 31384577 DOI: 10.5415/apallergy.2019.9.e22

Background: Chronic rhinosinusitis (CRS) is one of the most common and complex chronic inflammatory disease of sinonasal mucosa. Even though the pathogenesis of CRS is multifactorial and still unclear, the role of cytokines especially interleukin-1 (IL-1) is being investigated worldwide in different population because of varying results obtained.
Objective: To study the association of IL-1 (A and B) gene polymorphisms with chronic rhinosinusitis with nasal polyp (CRSwNP) and without nasal polyp (CRSsNP), and other factors related.
Methods: This is a case-controlled study which include a total of 138 subjects recruited from Otorhinolaryngology-Head and Neck Surgery clinic in Hospital Universiti Sains Malaysia. Genotyping of the IL-1A (+4845G, +4845T) and IL-1B (-511C, -511T) were performed with restriction fragment length polymorphism analysis.
Results: There was a statistical significant association between IL-1B (-511C, -511T) polymorphism with CRSwNP and CRSsNP (p < 0.001). The CT genotype of IL-1B was markedly increased in CRSwNP subjects (52.2%). However, there was no significant association found between IL-1A (+4845G, +4845T) with CRSwNP and CRSsNP (p = 0.093). No association was found in factors related to CRS, which included asthma, atopy, allergy, aspirin sensitivity, and family history of nasal polyp (p value of 0.382, 0.382, 0.144, >0.95, and 0.254, respectively).
Conclusion: This study indicates an association of IL-1B (-511C, -511T) polymorphism with CRSwNP and CRSsNP in our population, hence there is a possibility of IL-1B involvement in modulating pathogenesis of CRS. There was no significant association of IL-1A (+4845G, +4845T) polymorphism with CRSwNP and CRSsNP, and other factors related.

Matched MeSH terms: Genotype
Isolation and characterization of microsatellite markers and analysis of genetic variability in Curculigo latifolia Dryand

Babaei N, Abdullah NA, Saleh G, Abdullah TL

Mol Biol Rep, 2012 Nov;39(11):9869-77.
PMID: 22752726

Curculin, a sweet protein found in Curculigo latifolia fruit has great potential for the pharmaceutical industry. This protein interestingly has been found to have both sweet taste and taste-modifying capacities comparable with other natural sweeteners. According to our knowledge this is the first reported case on the isolation of microsatellite loci in this genus. Hence, the current development of microsatellite markers for C. latifolia will facilitate future population genetic studies and breeding programs for this valuable plant. In this study 11 microsatellite markers were developed using 3' and 5' ISSR markers. The primers were tested on 27 accessions from all states of Peninsular Malaysia. The number of alleles per locus ranged from three to seven, with allele size ranging from 141 to 306 bp. The observed and expected heterozygosity ranged between 0.00-0.65 and 0.38-0.79, respectively. The polymorphic information content ranged from 0.35 to 0.74 and the Shannon's information index ranged from 0.82 to 1.57. These developed polymorphic microsatellites were used for constructing a dendrogram by unweighted pair group method with arithmetic mean cluster analysis using the Dice's similarity coefficient. Accessions association according to their geographical origin was observed. Based on characteristics of isolated microsatellites for C. latifolia accessions all genotype can be distinguished using these 11 microsatellite markers. These polymorphic markers could also be applied to studies on uniformity determination and somaclonal variation of tissue culture plantlets, varieties identification, genetic diversity, analysis of phylogenetic relationship, genetic linkage maps and quantitative trait loci in C. latifolia.

Matched MeSH terms: Genotype
Fulltext Interleukin-6 gene variants are associated with reduced risk of chronicity in hepatitis B virus infection in a Malaysian population

Riazalhosseini B, Mohamed Z, Apalasamy YD, Shafie NS, Mohamed R

Biomed Rep, 2018 Sep;9(3):213-220.
PMID: 30271596 DOI: 10.3892/br.2018.1126

Interleukin-6 (IL-6) is a cytokine with a critical role in regulating the immune response to infectious disease. Studies have indicated that polymorphisms in the IL-6 gene may be linked to hepatitis B virus (HBV) infection. The purpose of the present study was to examine the association among IL-6 SNPs and haplotypes with HBV infection risk in a Malaysian population. A total of 1,246 Malaysian subjects with and without chronic hepatitis B were recruited for this study. Three IL-6 polymorphisms (rs2069837, rs1800796 and rs2066992) were genotyped using a Sequenom MassARRAY® platform. The results suggested that GC and CC genotypes of rs1800796 as well as GT and TT genotypes of rs2066992 were associated with protection against HBV infection (P<0.001). Furthermore, haplotypes GG and CT exhibited a significant association with protection against HBV (P=0.003 and =0.005, respectively); and haplotypes GG and CT exhibited a significant association with clearance of HBV infection (P=0.035 and =0.037, respectively). The present study indicates that two IL-6 SNPs (rs1800796 and rs2066992) are associated with clearance of chronic HBV or protection against HBV infection at allelic, genotypic and haplotypic levels.

Matched MeSH terms: Genotype
LBOS 02-06 HISTOPATHOLOGICAL-SPECIFIC MUTATION SPECTRUM OF ALDOSTERONE-PRODUCING ADENOMAS

Azizan E, Sukor N, Kamaruddin NA, Jamal AR, Ceral J, Solar M, et al.

J Hypertens, 2016 Sep;34 Suppl 1 - ISH 2016 Abstract Book:e550.
PMID: 27754305

Aldosterone-producing adenoma (APA) is a common curable cause of hypertension. Somatic mutations in five genes (KCNJ5, ATP1A1, ATP2B3, CACNA1D, and CTNNB1) have been found to cause the excess aldosterone production of two thirds of APAs [1-4]. KCNJ5 mutant APAs, the most common and largest, had explicit genotype-phenotype relationship - a low protein expression of KCNJ5 relative to their peritumoural zona glomerulosa (ZG) and a zona fasciculata-like composition [5-6]. Conversely for the other genes, controversy arises on whether they have the opposite cell phenotype [4,7-8]. This prospective study aim to to characterize the histopathological-specific mutation spectrum of APAs.

Matched MeSH terms: Genotype
Fulltext Detection of mumps virus of genotype g in Bangladeshi children suffering from encephalitis

Daisuke, Mori, Wahida Khanam, Kamruddin Ahmed

Borneo Journal of Medical Sciences, 2021;15(1):73-79.
MyJurnal

Although mumps virus (MuVi) is an important agent of encephalitis, however, mumps vaccine has not yet been included in the national immunization programme of Bangladesh. Furthermore, the genotype distribution of this virus in Bangladesh is unknown. Cerebrospinal fluid samples collected from 97 children with encephalitis from April 2009 to March 2010 were subjected to polymerase chain reaction (PCR) test to determine the causative agents. MuVi was detected in two samples, these samples were further subjected to conventional PCR using specific primers, then amplicons were sequenced, and genotype was determined as genotype G. Phylogenetic analysis showed that these strains were clustered with strains from Nepal, India, the UK, Thailand, and the USA. By Bayesian inference, we also determined that the ancestor of Bangladeshi and Indian MuVi were same and segregated only about two decades back. These results will help future surveillance and the detection of invading MuVi strains from other countries.

Matched MeSH terms: Genotype
Description and characterization of questing hard tick, Dermacentor steini (Acari: Ixodidae) in Malaysia based on phenotypic and genotypic traits

Ernieenor FCL, Apanaskevich DA, Ernna G, Mariana A

Exp Appl Acarol, 2020 Jan;80(1):137-149.
PMID: 31832837 DOI: 10.1007/s10493-019-00439-4

Identifying certain species of Dermacentor ticks in Malaysia is challenging as there is no comprehensive work on their systematics and lack of specific taxonomic keys. In this study, we described and characterized D. steini ticks collected from a forest reserve in the vicinity of the Forest Research Institute of Malaysia using integrated phenotypic and genotypic traits. In total two males and three females of questing D. steini ticks were morphologically identified using specific illustrated taxonomic keys based on their special characters. Further confirmation and characterization of the tick species were then examined using PCR, followed by sequencing partial mitochondrial 16S rDNA gene (mt-rrs). Clustering analysis based on mt-rrs was carried out by constructing neighbor-joining tree topology to clarify the genetic variation of local D. steini. Based on external morphological characterizations, all ticks were successfully identified down to the species as adult D. steini. The molecular traits based on phylogenetic tree provide very strong support for the monophyletic clade of D. steini including high percentages of similarity (97-100%) with available sequences in GenBank. Furthermore, a low intraspecific variation (4%) among the species of D. steini was observed but it was genetically different from other Dermacentor species with high interspecific value (8-15%). These findings produced the first genotypic data of D. steini using 16S rDNA gene which confirmed the presence of this species in Malaysia. Moreover, this study supports the taxonomic status of local D. steini and adds to the knowledge of accurate identification of ticks.

Matched MeSH terms: Genotype
Neonatal buccal cell collection: a non-invasive strategy to provide a reliable source of DNA for high resolution melting analysis

Cheung, Tian Pei, Rostenberghe, Hans Van, Narazah Mohd Yusoff, Noraida Ramli, Nor Rosidah Ibrahim, Nishio, Hisahide, et al.

Malaysian Journal of Paediatrics and Child Health, 2019;25(2):14-22.
MyJurnal

Background: The low yield and quality of buccal-derived genomic DNA have reduced its applicability in various genetic research. The aim of this study was to assess the quantity, purity and genotyping efficiency of genomic DNA isolated from neonatal buccal swabs. Methods: Paired buccal swabs and whole blood samples were collected from 60 neonates with the mean age 5 days (SD=1.57). The genomic DNA quantity and purity were measured by using Infinite® 200 PRO NanoQuant reader and agarose gel electrophoresis. High-resolution melting (HRM) analysis was used to analyse the sequence variants present in uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1 c.211G>A) and nuclear receptor subfamily 1, group I, member 3 (NR1I3 IVS8+116T>G) genes. Results: Buccal swabs provided lower mean genomic DNA concentration (18.78 ± 8.39 ng/μl versus 40.02 ± 13.03 ng/μl), yield (2.63 ± 1.17 μgversus8.00 ± 2.61 μg). The purity of buccal samples however were inconsistent with 16 samples (26.7%) having A260/280 ratios below 1.8 which indicated protein contamination. Genomic DNA purity for all blood samples were within the ideal range with average absorbance ratios of 1.8−2.0. However, all buccal genomic DNA demonstrated 100% genotype call rates for all variants. A complete genotype concordance was also observed between paired genomic DNA samples. Conclusion: Despite related to a reduced quantity and purity, neonatal buccal genomic DNA could generate reliable HRM genotyping results. Therefore, buccal swab collection is a promising alternative to the invasive blood sampling to provide genomic DNA for genetic analysis involving paediatric population.

Matched MeSH terms: Genotype
Fulltext The 4717C > G polymorphism in periplakin modulates sensitivity to EGFR inhibitors

Lee HM, Kelly GM, Zainal NS, Yee PS, Fadlullah MZH, Lee BKB, et al.

Sci Rep, 2019 02 20;9(1):2357.
PMID: 30787334 DOI: 10.1038/s41598-019-38742-0

The use of EGFR inhibitors on oral squamous cell carcinoma (OSCC) as monotherapy yielded modest clinical outcomes and therefore would benefit from biomarkers that could predict which patient subsets are likely to respond. Here, we determined the efficacy of erlotinib in OSCC cell lines, and by comparing sensitive and resistant lines to identify potential biomarkers. We focused on the 4717C > G polymorphism in periplakin (PPL) where the CC genotype was associated with erlotinib resistance. To validate this, erlotinib-resistant cell lines harbouring CC genotype were engineered to overexpress the GG genotype and vice versa. Isogenic cell lines were then studied for their response to erlotinib treatment. We demonstrated that overexpression of the GG genotype in erlotinib-resistant lines sensitized them to erlotinib and inhibition of AKT phosphorylation. Similarly, the expression of the CC genotype conferred resistance to erlotinib with a concomitant increase in AKT phosphorylation. We also demonstrated that cell lines with the CC genotype generally are more resistant to other EGFR inhibitors than those with the GG genotype. Overall, we showed that a specific polymorphism in the PPL gene could confer resistance to erlotinib and other EGFR inhibitors and further work to evaluate these as biomarkers of response is warranted.

Matched MeSH terms: Genotype
CYP2C9, CYP2C19, CYP2D6 and CYP3A5 polymorphisms in South-East and East Asian populations: A systematic review

Dorji PW, Tshering G, Na-Bangchang K

J Clin Pharm Ther, 2019 Aug;44(4):508-524.
PMID: 30980418 DOI: 10.1111/jcpt.12835

WHAT IS KNOWN AND OBJECTIVE: Genetic polymorphism is one of the most important factors responsible for interindividual and interethnic variability in drug response. Studies in major populations, ie, Caucasians, Asians, and Africans, have provided evidence of differences in the genotype frequencies of major drug-metabolizing enzyme cytochrome P450 (CYP). This study aimed to review systematically, all relevant articles related to the genetic polymorphisms in CYP2C9, CYP2C19, CYP2D6 and CYP3A5 in South-East and East Asian (SEEA) populations.
METHODS: Articles that report genetic polymorphisms, genotype frequencies and allele frequencies in CYP2C9, CYP2C19, CYP2D6 and CYP3A5 were retrieved from the PubMed database.
RESULTS AND DISCUSSIONS: A total of 86 studies that fulfilled the eligibility criteria representing different ethnic populations of SEEA, ie, Burmese, Chinese, Japanese, Karen ethnic minority, Korean, Malaysian, Philippino, Singaporean, Taiwanese, Thai, Indonesian, and Vietnamese, were included in the analysis. In general, the genotype frequencies across SEEA populations are comparable. The CYP2C9*1/*1 (69.3%-99.1%), *1/*3 (2.3%-20.1%) and *3/*3 (0%-2.2%) genotypes are reported in most SEEA populations. Six major CYP2C19 genotypes, ie, *1/*1 (6.25%-88.07%), *1/*2 (21.5%-86.46%), *1/*3 (0.8%-15.8%), *2/*2 (3.4%-14.5%), *2/*3 (0%-7.3%) and *3/*3 (0%-10.2%), are reported in most SEEA populations. Major CYP2D6 genotypes include *10/*10 (0%-69.6%), *1/*1 (0%-61.21%) and *1/*10 (0%-62.0%). Major CYP3A5 genotypes are *3/*3 (2.0%-71.4%), *1/*3 (16.0%-57.1%) and *1/*1 (0%-82.0%). Genotyping of abnormal genotypes of CYP2C9 (*1/*3), CYP2C19 (*1/*2, *1/*3), CYP3A5 (*1/*3) and CYP2D6 (*5/*10) associated with IM (Intermediate metabolizer) status, may be clinically beneficial in SEEA populations. Similarly, with CYP2C19 (*2/*2, *2/*3), CYP2D6 (*5/*5 ) linked to PM (Poor metabolizer), CYP2D6 (*10/*10, *1/*5 and to lesser extent *1/*4, *2/*5, *10/*41, *10/*49, *10/*14) and CYP3A5 (*1/*1) associated with EM (extensive metabolizer).
WHAT IS NEW AND CONCLUSION: Sufficient number of studies has provided comparable results in general. This review suggests that comparable genotype frequencies of CYP2C9, CYP2C19, CYP2D6 and CYP3A5 exist among the SEEA populations. It is noted that more research data are reported from East Asians compared with South-East Asians. Concerned efforts are required to establish partnerships among SEEA countries that will ensure sufficient data from South-East Asian countries which will assist in establishing the databases for SEEA populations.

Matched MeSH terms: Genotype
Fulltext In vitro effects of multi-purpose contact lens disinfecting solutions towards survivability of Acanthamoeba genotype T4 in Malaysia

Mohd Hussain RH, Afiqah WN, Abdul Ghani MK, Khan NA, Siddiqui R, Anuar TS

Saudi J Biol Sci, 2021 Apr;28(4):2352-2359.
PMID: 33911949 DOI: 10.1016/j.sjbs.2021.01.030

The incidence of Acanthamoeba keratitis has been increasing since the previous decades, especially among contact lens users. This infection is majorly caused by the use of ineffective contact lens disinfecting solution. Thus, this study was conducted to evaluate the in vitro effects of multi-purpose disinfecting solutions (MPDS) against Acanthamoeba trophozoites and cysts. Acanthamoeba genotype T4 isolated from contact lens paraphernalia and an environmental strains were propagated for trophozoite or cyst-containing culture and adjusted in final concentration of 1 × 105 cells/ml. Amoebicidal and cysticidal assays were conducted by incubating trophozoites and cysts with OPTI-FREE® Express®, ReNu® Fresh™, Complete® Multi-Purpose Solution and AVIZOR Unica® Sensitive according to the manufacturer's minimum recommended disinfectant time (MMRDT) for up to 12 h at 30 ⁰C. Trypan blue hemocytometer-based microscopic counts determined amoebicidal and cysticidal effects. The viability of Acanthamoeba trophozoites and cysts was confirmed by re-inoculated them in the 1.5% non-nutrient agar plates. It was found that none of the MPDS showed amoebicidal and cysticidal effects during the MMRDT. However, OPTI-FREE® Express® demonstrated a significant differences in average cell reduction for both stages within MMRDT. When subjected to 12 h exposure, both OPTI-FREE® Express® and ReNu® Fresh™ led to significant reduction in the number of trophozoite and cyst cells. Notably, Complete® Multi-Purpose Solution and AVIZOR Unica® Sensitive did appreciably improve the solution effectiveness towards trophozoite cells when incubated for 12 h. All MPDS were largely ineffective, with 100% survival of all isolates at MMRDT, while OPTI-FREE® Express® showed limited amoebicidal activity against the contact lens paraphernalia isolate, however, it was more against the environmental strains after 12 h incubation time. The commercially available MPDS employed in this research offered minimal effectiveness against the protozoa despite the contact time. Improvement or development of new solution should consider the adjustment of the appropriate disinfectant concentration, adequate exposure time or the incorporation of novel chemical elements, which are effective against Acanthamoeba for accelerated disinfecting and more reduction of potential exposure of contact lens users to Acanthamoeba keratitis.

Matched MeSH terms: Genotype

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