Displaying publications 1 - 20 of 407 in total

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  1. [POLYMORPHISM OF THE BETA1- AND BETA2-ADRENORECEPTOR GENES AND BISOPROLOL EFFICIENCY IN PATIENTS WITH HEART FAILURE]
    Pyvovar S, Rudyk I, Isayeva G, Lozyk T, Galchinskaya V, Bondar T
    Georgian Med News, 2019 Oct.
    PMID: 31804204
    The work was aimed at studying the relationship between the efficiency of bisoprolol and the polymorphism of β1- and β2-adrenergic receptors (β-AR) genes in patients with heart failure. The two-year study included 251 patients with heart failure (with myocardial infarction on the background of coronary heart disease). During hospitalization, a standardized examination and prescription of therapy was carried out, including β-adrenergic blocking agent (β1-AB) - bisoprolol. Afterward, 61 (24.4%) patients stopped taking β1-AB (bisoprolol) as a result of intolerance or violation of compliance; 190 patients took bisoprolol for 2 years. The frequency of rehospitalization (RH) due to decompensation of heart failure (HF) (or intravenous injection of loop diuretics), mortality, and the development of a composite endpoint (CE) for 2 years was taken into account. The control group consisted of 55 healthy individuals. Genotyping was performed using 3 polymorphisms (Gly389Arg of the β1-АR gene, Ser49Gly of the β1-АR gene, Gln27Glu of the β2-АR gene) using the polymerase chain reaction. Genetic and epidemiological analysis was carried out using the SNPStats program. The use of bisoprolol with HF reduces the risk of re-hospitalization (odds ratio (OR)=0.519 (0.278-0.967); p=0.037) and CE (OR=0.494 (0.271-0.900); p=0.030) for 2 years of treatment. Treatment of patients with bisoprolol in a dose of >5 mg leads to a decrease in the risk of CE with G/A polymorphism Ser49Gly (c.145A> G) of the β1-AR gene (OR=0.18 (0.04-0.84), with p=0.014). The use of this drug at this dose also leads to a decrease in the frequency of RH and CE with the homozygous genotype C (C/C) of the Gln27Glu polymorphism (c.79C>G) of the β2-AR gene (OR=0.09 (0.02-0.46), at p=0.018 and OR=0.14 (0.04-0.58), at p=0.006, respectively).
    Matched MeSH terms: Gene Frequency
  2. Fulltext Analysis of the Origin of Emiratis as Inferred from a Family Study Based on HLA-A, -C, -B, -DRB1, and -DQB1 Genes
    Al Yafei Z, Hajjej A, Alvares M, Al Mahri A, Nasr A, Mirghani R, et al.
    Genes (Basel), 2023 May 26;14(6).
    PMID: 37372339 DOI: 10.3390/genes14061159
    In this study, we investigated HLA class I and class II allele and haplotype frequencies in Emiratis and compared them to those of Asian, Mediterranean, and Sub-Saharan African populations.

    METHODS: Two-hundred unrelated Emirati parents of patients selected for bone marrow transplantation were genotyped for HLA class I (A, B, C) and class II (DRB1, DQB1) genes using reverse sequence specific oligonucleotide bead-based multiplexing. HLA haplotypes were assigned with certainty by segregation (pedigree) analysis, and haplotype frequencies were obtained by direct counting. HLA class I and class II frequencies in Emiratis were compared to data from other populations using standard genetic distances (SGD), Neighbor-Joining (NJ) phylogenetic dendrograms, and correspondence analysis.

    RESULTS: The studied HLA loci were in Hardy-Weinberg Equilibrium. We identified 17 HLA-A, 28 HLA-B, 14 HLA-C, 13 HLA-DRB1, and 5 HLA-DQB1 alleles, of which HLA-A*02 (22.2%), -B*51 (19.5%), -C*07 (20.0%), -DRB1*03 (22.2%), and -DQB1*02 (32.8%) were the most frequent allele lineages. DRB1*03~DQB1*02 (21.2%), DRB1*16~DQB1*05 (17.3%), B*35~C*04 (11.7%), B*08~DRB1*03 (9.7%), A*02~B*51 (7.5%), and A*26~C*07~B*08~DRB1*03~DQB1*02 (4.2%) were the most frequent two- and five-locus HLA haplotypes. Correspondence analysis and dendrograms showed that Emiratis were clustered with the Arabian Peninsula populations (Saudis, Omanis and Kuwaitis), West Mediterranean populations (North Africans, Iberians) and Pakistanis, but were distant from East Mediterranean (Turks, Albanians, Greek), Levantine (Syrians, Palestinians, Lebanese), Iranian, Iraqi Kurdish, and Sub-Saharan populations.

    CONCLUSIONS: Emiratis were closely related to Arabian Peninsula populations, West Mediterranean populations and Pakistanis. However, the contribution of East Mediterranean, Levantine Arab, Iranian, and Sub-Saharan populations to the Emiratis' gene pool appears to be minor.

    Matched MeSH terms: Gene Frequency/genetics
  3. Population data on 15 STR loci using AmpF/STR Identifiler kit in a Malay population living in and around Kuala Lumpur, Malaysia
    Maruyama S, Minaguchi K, Takezaki N, Nambiar P
    Leg Med (Tokyo), 2008 May;10(3):160-2.
    PMID: 18180191 DOI: 10.1016/j.legalmed.2007.11.002
    Allele frequencies for 15 short tandem repeat (STR) loci D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA (AmpF/STR Identifiler PCR Amplification kit, PE Applied Biosystems) were obtained from a sample of 110 unrelated individuals from the Malay population living in and around Kuala Lumpur, Malaysia, and the characteristics of the population was compared with other East Asian populations.
    Matched MeSH terms: Gene Frequency*
  4. Inference from the relationships between linkage disequilibrium and allele frequency distributions of 240 candidate SNPs in 109 drug-related genes in four Asian populations
    Cha PC, Yamada R, Sekine A, Nakamura Y, Koh CL
    J Hum Genet, 2004;49(10):558-572.
    PMID: 15372322 DOI: 10.1007/s10038-004-0190-z
    The extensive nucleotide diversity in drug-related genes predisposes individuals to different drug responses and is a major problem in current clinical practice and drug development. Striking allelic frequency differences exist in these genes between populations. In this study, we genotyped 240 sites known to be polymorphic in the Japanese population in each of 270 unrelated healthy individuals comprising 90 each of Malaysian Malays, Indians, and Chinese. These sites are distributed in 109 genes that are drug related, such as genes encoding drug-metabolizing enzymes and drug transporters. Allele frequency and linkage disequilibrium distributions of these sites were determined and compared. They were also compared with similar data of 752 Japanese. Extensive similarities in allele frequency and linkage disequilibrium distributions were observed among Japanese, Malaysian Chinese, and Malays. However, significant differences were observed between Japanese and Malaysian Chinese with Malaysian Indians. These four populations were grouped into two genetic clusters of different ancestries. However, a higher correlation was found between Malaysian Malays and Indians, indicating the existence of extensive admixture between them. The results also imply the possible and rational use of existing single nucleotide polymorphism databases as references to assist future pharmacogenetic studies involving populations of similar ancestry.
    Matched MeSH terms: Gene Frequency*
  5. Fulltext A quarter century of molecular population genetics research in Southeast Asia: a lifetime experience
    Tan, S.G.
    Buletin Persatuan Genetik Malaysia, 2006;12(1):18-0.
    MyJurnal
    The genetic relationship between any two populations is a function of the differences between them in allele frequencies, with this relationship commonly expressed in terms of a genetic distance. For example if the two populations are homozygous for different alleles at a particular locus, the distance is the maximum possible whereas if the allele frequencies in the two populations are identical, the distance is zero. The estimated genetic distances may vary among loci. Thus, the most accurate measures of relationships will be obtained by averaging many loci (Nei, 1978). In plant and animal breeding, it is expected that a cross between two individuals originating from two populations with a large genetic distance between them will result in maximum heterosis or hybrid vigour. Many estimates of genetic distances are available in the literature but Nei’s standard genetic distance, D, (Nei, 1972, 1978) had been extensively used in studies of human, animal and plant varieties, races, breeds, strains, populations, species and genera.
    Matched MeSH terms: Gene Frequency
  6. KIR genotype and haplotype frequencies in the multi-ethnic population of Malaysia
    Kevin-Tey WF, Wen WX, Bee PC, Eng HS, Ho KW, Tan SM, et al.
    Hum Immunol, 2023 Mar;84(3):172-185.
    PMID: 36517321 DOI: 10.1016/j.humimm.2022.11.006
    Killer cell immunoglobulin-like receptors (KIR) genotype and haplotype frequencies have been reported to vary distinctly between populations, which in turn contributes to variation in the alloreactivity of natural killer (NK) cells. Utilizing the diverse KIR genes to identify suitable transplant donors would prove challenging in multi-ethnic countries, even more in resource-limited countries where KIR genotyping has not been established. In this study, we determined the KIR genotypes from 124 unrelated Malaysians consisting of the Malays, Chinese, Indians, and aboriginal people through polymerase chain reaction sequence-specific primer (PCR-SSP) genotyping and employing an expectation-maximization (EM) algorithm to assign haplotypes based on pre-established reference haplotypes. A total of 27 distinct KIR haplotypes were discerned with higher frequencies of haplotype A (55.2%) than haplotype B (44.8%). The most frequent haplotypes were cA01:tA01 (55.2%), cB01:tB01 (18.1%), and cB02:tA01 (13.3%), while the least frequent haplotypes were cB03:tB01 (1.2%), cB04:tB03 (0.4%), and cB03:tA01 (0.4%). Several haplotypes were identified to be unique to a specific ethnic group. The genotype with the highest frequency was genotype AB (71.8%), followed by AA (19.4%), and BB (8.9%). The Indians exhibited the lowest genotype AA but the highest genotype BB, whereas genotype BB was absent in the aboriginal people. Despite the limitations, the genotype and haplotypes in the Malaysian population were successfully highlighted. The identification of ethnic-specific KIR genotypes and haplotypes provides the first step to utilizing KIR in identifying suitable transplant donors to further improve the transplant outcome in the Malaysian population.
    Matched MeSH terms: Gene Frequency
  7. Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah
    Teh LK, George E, Lai MI, Tan JA, Wong L, Ismail P
    J Hum Genet, 2014 Mar;59(3):119-23.
    PMID: 24369358 DOI: 10.1038/jhg.2013.131
    Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of β-thalassemia major patients. Accurate population frequency data of the molecular basis of β-thalassemia major are needed for planning its control in the high-risk population of Sabah. Characterization of β-globin gene defects was done in 252 transfusion dependent β-thalassemia patients incorporating few PCR techniques. The study demonstrates that β-thalassemia mutations inherited are ethnically dependent. It is important to note that 86.9% of transfusion-dependent β-thalassemia major patients in Sabah were of the indigenous population and homozygous for a single mutation. The Filipino β(0)-deletion was a unique mutation found in the indigenous population of Sabah. Mutations common in West Malaysia were found in 11 (4.3%) patients. Four rare mutations (Hb Monroe, CD 8/9, CD 123/124/125 and IVS I-2) were also found. This study is informative on the population genetics of β-thalassemia major in Sabah.
    Matched MeSH terms: Gene Frequency/genetics
  8. [Simple and rapid analysis of beta-thalassemia mutation by sequence-specific amplification]
    Harano K, Harano T
    Rinsho Byori, 2013 Mar;61(3):217-23.
    PMID: 23785790
    This study was done to detect and diagnose beta-thalassemia (beta-Thal) gene quickly. We applied sequence specific Amplification (SSA) method to the analysis. 13 kinds of beta-Thal and two kinds of hemoglobin variants were able to detect under the same PCR condition. These mutations were found frequently in ten countries of Asian region (the southern part of China, Vietnam, Cambodia, Thailand, Myanmar, Malaysia, Singapore, Indonesia, Pakistan, India), and 15 kinds in total (-28CapA-->G, CD5-CT, CD8/9+-G, CD15G-->A, CD17A-->T, IVSI-1G-->T, CD41/42-4del, CD16-C, CD26G-->A(betaE), IVSI-5G-->C, CD35C-->A, CD71/72 +A, CD6A-->T (betaS), -619del, IVSII-654C-->T). More than 80% of patients are included in these mutations. To make the reagents a kit, the procedure became simple and rapid. DNA was extracted by salting out method. The PCR product was detected by polyacrylamide gel electrophoresis and silver staining. The confirmation of the variant was done by the PCR-direct sequencing method. It took approximately six hours for PCR reaction, electrophoresis and staining. This method made us to detect and diagnose beta-Thal in one day.
    Matched MeSH terms: Gene Frequency/genetics*
  9. Fulltext Genetic data for 15 STR loci in a Kadazan-Dusun population from East Malaysia
    Kee BP, Lian LH, Lee PC, Lai TX, Chua KH
    Genet. Mol. Res., 2011;10(2):739-43.
    PMID: 21523653 DOI: 10.4238/vol10-2gmr1064
    Allele frequencies of 15 short tandem repeat (STR) loci, namely D5S818, D7S820, D13S317, D16S539, TH01, TPOX, Penta D, Penta E, D3S1358, D8S1179, D18S51, D21S11, CSF1PO, vWA, and FGA, were determined for 154 individuals from the Kadazan-Dusun tribe, an indigenous population of East Malaysia. All loci were amplified by polymerase chain reaction, using the Powerplex 16 system. Alleles were typed using a gene analyzer and the Genemapper ID software. Various statistical parameters were calculated and the combined power of discrimination for the 15 loci in the population was calculated as 0.999999999999999. These loci are thus, informative and can be used effectively in forensic and genetic studies of this indigenous population.
    Matched MeSH terms: Gene Frequency/genetics*
  10. STR data for the AmpFlSTR Identifiler loci from the three main ethnic indigenous population groups (Iban, Bidayuh, and Melanau) in Sarawak, Malaysia
    Suadi Z, Siew LC, Tie R, Hui WB, Asam A, Thiew SH, et al.
    J Forensic Sci, 2007 Jan;52(1):231-4.
    PMID: 17209948
    Matched MeSH terms: Gene Frequency*
  11. Allele frequency distribution for 9 STR loci in the Tamil population of Malaysia
    Panneerchelvam S, Thevan KK, KokFai L, Saravanakumar M, Sumathy V, Yuvaneswari KC, et al.
    J Forensic Sci, 2004 Jul;49(4):863-4.
    PMID: 15317219
    Matched MeSH terms: Gene Frequency*
  12. Allele frequency distribution for 10 STR loci in the Malay population of Malaysia
    Panneerchelvam S, Haslindawaty N, Ravichandran M, Norazmi MN, Zainuddin ZF
    J Forensic Sci, 2003 Mar;48(2):451-2.
    PMID: 12665016
    Matched MeSH terms: Gene Frequency*
  13. Allele frequencies for the PowerPlex 16 STR loci in Javanese population in Malaysia
    Othman MI, Seah LH, Panneerchelvam S, Nor NM
    J Forensic Sci, 2004 Jan;49(1):190-1.
    PMID: 14979376
    Matched MeSH terms: Gene Frequency*
  14. 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: Gene Frequency/genetics
  15. Fulltext [TRIMCyp frequency of the cynomolgus macaque (Macaca fascicularis) in captivity in China]
    Tian S, Meng YH, Liu MY, Sun F, Chen JH, Du HL, et al.
    Zool Res, 2013 Apr;34(2):97-102.
    PMID: 23572358 DOI: 10.3724/SP.J.1141.2013.02097
    In most Old world monkey species, TRIM5α plays a role in combating retroviruses and restricting HIV-1. Alongside TRIM5α, the TRIMCyp fusion gene formed by the retrotransposition of a CypA pseudogene cDNA to 3' terminal or 3'-UTR of TRIM5 gene in these monkeys has become a key research area in anti HIV-1 factors. The regional differences, gene frequencies, genotypes, and retrovirus restrictive activities of TRIMCyp vary among different primate species. While the frequencies of cynomolgus TRIMCyp have been studied in several areas of Southeast Asia, the frequency and prevalence of cynomolgus TRIMCyp in China remains unclear. In this study, we screened 1, 594 cynomolgus samples from 11 monkey manufacturers located across 5 provinces in China. Our results showed that the frequencies of TRIMCyp range from 7.65% to 19.79%, markedly lower than the frequencies found in monkey species in the Philippines, Malaysia and Indonesia (ranging from 34.85% to 100%). We speculate that potentially the latter were isolated groups established since 1978. The NE haplotype frequencies of cynomolgus TRIMCyp were 4.93% in China, also significantly lower than those found in species in the Philippines, Malaysia and Indonesia (from 11.1% to 14.3%). Our research provides interesting findings that contribute towards a more firm basis of further studies of HIV-1 animal models and relevant pathogenesis.
    Matched MeSH terms: Gene Frequency*
  16. Xga blood group in Chinese, Malays and Indians in Singapore
    Saha N, Banerjee B
    Vox Sang, 1973;24(6):542-4.
    PMID: 4722836
    Matched MeSH terms: Gene Frequency*
  17. Frequencies of Gm and Km allotypes in the population of Singapore, Sri Lanka and Punjabis in North India
    Daveau M, Rivat L, Lalouel JM, Langaney A, Roberts DF, Simons MJ
    Hum. Hered., 1980;30(4):237-44.
    PMID: 7390516
    Serum samples from Sinhalese subjects, from Punjab and from Singapore have been studied. The Gm phenotypes found are very numerous and we can observe some similarities concerning the Gm gene frequencies between the Singapore Indians with the Indians of North India, and with the Sinhalese. In contrast, Gm gene frequencies found among Chinese and Malays from Singapore are quite different from those found among Indians of Singapore. Our results here are very similar to those obtained in Malaya studies.
    Matched MeSH terms: Gene Frequency*
  18. HLA antigens in three common populations in South East Asia--Chinese, Malay and Filipino
    Chan SH, Wee GB, Srinivasan N, Glen SP, Cheng P, Vengadasalam D, et al.
    Tissue Antigens, 1979 May;13(5):361-8.
    PMID: 91213
    Matched MeSH terms: Gene Frequency*
  19. The ABO blood group distribution of western Malaysia based on grouping results of forensic cases
    Poon WL, Amarasingham RD
    Med J Malaya, 1968 Mar;22(3):182-6.
    PMID: 4234352
    Matched MeSH terms: Gene Frequency*
  20. Human neutrophil antigen frequency data for Malays, Chinese and Indians
    Hajar CGN, Zulkafli Z, Md Riffin NS, Tuan Mohammad TH, Safuan S, Nelson BR, et al.
    Transfus Apher Sci, 2020 Apr;59(2):102651.
    PMID: 31606336 DOI: 10.1016/j.transci.2019.09.004
    BACKGROUND: Human neutrophil antigens (HNAs) are implicated in several clinical disorders and their allelic variations have been reported for many populations. This new study was aimed to report the genotype and alleles frequencies of HNA-1, -3, -4 and -5 loci in Malays, Chinese and Indians in Peninsular Malaysia.

    METHODS: A total of 222 blood samples were collected from healthy, unrelated Malay, Chinese and Indian individuals. Their HNA-1, -3 and -4 and HNA-5 loci were genotyped using polymerase chain reaction-sequence specific primer (PCR-SSP) or PCR-restriction fragment length polymorphism (RFLP) assays.

    RESULTS: All HNA loci are polymorphic, except for HNA -4. Geneotypes HNA-1a/1b, -3a/3b and -4a/4a were observed most frequently at these three loci in all three ethnic groups. In contrast, HNA-5a/5b and -5a/5a were observed as the predominant genotypes in Malays vs. Chinese and Indians, respectively. The Malays, Chinese and Indians shared HNA -3a (0.505-0.527), HNA -4a (1.000) and -5a (0.676-0.854) as the most frequent alleles. However, HNA-1a was found to be the most common in Malays (0.506) and Chinese (0.504) and HNA-1b for Indians (0.525).

    CONCLUSION: Combined with HNA data that have been published for Malay subethnic and Orang Asli groups, this study provides the first fully comprehensive HNA dataset for populations to be found in Peninsular Malaysia. Overall, our findings provide further evidence of genetic complexity in the region. This now publicly available HNA dataset can be used as a reliable reference source for improving medical outcomes.

    Matched MeSH terms: Gene Frequency/immunology*
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