Displaying publications 41 - 60 of 301 in total

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  1. Neuregulin-1 (NRG-1) and its susceptibility to schizophrenia: a case-control study and meta-analysis
    Loh HC, Tang PY, Tee SF, Chow TJ, Choong CY, Lim SY, et al.
    Psychiatry Res, 2013 Jul 30;208(2):186-8.
    PMID: 23489597 DOI: 10.1016/j.psychres.2013.01.022
    Neuregulin-1 is widely investigated due to its hypothesised association with schizophrenia. Single-nucleotide polymorphisms rs764059, rs2954041 and rs3924999 were investigated (417 patients with schizophrenia and 429 controls). We failed to demonstrate a significant association between rs2954041 and rs3924999 with schizophrenia in the three ethnic groups studied (Malay, Chinese, and Indian), while rs764059 was found to be monomorphic.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  2. Fulltext Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries
    Matsuo M, Nishiyama K, Shirakawa T, Padilla CD, San LP, Suryantoro P, et al.
    Southeast Asian J. Trop. Med. Public Health, 2003;34 Suppl 3:127-9.
    PMID: 15906715
    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is common in malaria endemic regions and is estimated to affect more than 400 million people worldwide. Deficient subjects are mostly asymptomatic but clinical manifestations range from neonatal jaundice due to acute hemolytic anemia to chronic non-spherocytic hemolytic anemia. To date, biochemical parameters allowed more than 400 different G6PD variants to be distinguished thereby suggesting a vast genetic heterogeneity. So far, only a small portion of this heterogeneity has been confirmed at the DNA level with the identification of about 90 different point mutations in the G6PD coding sequence. To determine the molecular background of G6PD deficiency in Southeast Asian countries, we conducted molecular analyses of G6PD patients from the Philippines, Malaysia, Singapore, Vietnam and Indonesia. The most prevalent mutation identified differs from country to country, thus suggesting independent mutational events of the G6PD gene.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  3. Fulltext Dissecting the genetic structure and admixture of four geographical Malay populations
    Deng L, Hoh BP, Lu D, Saw WY, Twee-Hee Ong R, Kasturiratne A, et al.
    Sci Rep, 2015 Sep 23;5:14375.
    PMID: 26395220 DOI: 10.1038/srep14375
    The Malay people are an important ethnic composition in Southeast Asia, but their genetic make-up and population structure remain poorly studied. Here we conducted a genome-wide study of four geographical Malay populations: Peninsular Malaysian Malay (PMM), Singaporean Malay (SGM), Indonesian Malay (IDM) and Sri Lankan Malay (SLM). All the four Malay populations showed substantial admixture with multiple ancestries. We identified four major ancestral components in Malay populations: Austronesian (17%-62%), Proto-Malay (15%-31%), East Asian (4%-16%) and South Asian (3%-34%). Approximately 34% of the genetic makeup of SLM is of South Asian ancestry, resulting in its distinct genetic pattern compared with the other three Malay populations. Besides, substantial differentiation was observed between the Malay populations from the north and the south, and between those from the west and the east. In summary, this study revealed that the genetic identity of the Malays comprises a mixed entity of multiple ancestries represented by Austronesian, Proto-Malay, East Asian and South Asian, with most of the admixture events estimated to have occurred 175 to 1,500 years ago, which in turn suggests that geographical isolation and independent admixture have significantly shaped the genetic architectures and the diversity of the Malay populations.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  4. Fulltext Novel Association of WNK4 Gene, Ala589Ser Polymorphism in Essential Hypertension, and Type 2 Diabetes Mellitus in Malaysia
    Ghodsian N, Ismail P, Ahmadloo S, Heidari F, Haghvirdizadeh P, Ataollahi Eshkoor S, et al.
    J Diabetes Res, 2016;2016:8219543.
    PMID: 27314050 DOI: 10.1155/2016/8219543
    With-no-lysine (K) Kinase-4 (WNK4) consisted of unique serine and threonine protein kinases, genetically associated with an autosomal dominant form of hypertension. Argumentative consequences have lately arisen on the association of specific single nucleotide polymorphisms of WNK4 gene and essential hypertension (EHT). The aim of this study was to determine the association of Ala589Ser polymorphism of WNK4 gene with essential hypertensive patients in Malaysia. WNK4 gene polymorphism was specified utilizing mutagenically separated polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) method in 320 subjects including 163 cases and 157 controls. Close relation between Ala589Ser polymorphism and elevated systolic and diastolic blood pressure (SBP and DBP) was recognized. Sociodemographic factors including body mass index (BMI), age, the level of fasting blood sugar (FBS), low density lipoprotein (LDL), and triglyceride (TG) in the cases and healthy subjects exhibited strong differences (p < 0.05). The distribution of allele frequency and genotype of WNK4 gene Ala589Ser polymorphism showed significant differences (p < 0.05) between EHT subjects with or without type 2 diabetes mellitus (T2DM) and normotensive subjects, statistically. The WNK4 gene variation influences significantly blood pressure increase. Ala589Ser probably has effects on the enzymic activity leading to enhanced predisposition to the disorder.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  5. Fulltext Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome
    Baharin MF, Kader Ibrahim SB, Yap SH, Abdul Manaf AM, Mat Ripen A, Dhaliwal JS
    Malays J Pathol, 2015 Aug;37(2):153-8.
    PMID: 26277674 MyJurnal
    The Wiskott-Aldrich Syndrome (WAS) is an X-linked immunodeficiency condition characterized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott-Aldrich Syndrome protein (WASP) gene. We investigated two Malay boys who presented with congenital thrombocytopenia, eczema and recurrent infections. Here we report two cases of WASP mutation in Malaysia from two unrelated families. One had a novel missense mutation in exon 1 while the other had a nonsense mutation in exon 2. Both patients succumbed to diseaserelated complications. A differential diagnosis of WAS should be considered in any male child who present with early onset thrombocytopenia, especially when this is associated with eczema and recurrent infections.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  6. Distribution of cytokine gene polymorphisms in five Malay subethnic groups in Peninsular Malaysia
    Norhalifah HK, Zafarina Z, Sundararajulu P, Norazmi MN, Edinur HA
    Int. J. Immunogenet., 2015 Jun;42(3):200-3.
    PMID: 25809422 DOI: 10.1111/iji.12189
    In this survey, we have successfully genotyped 22 single nucleotide polymorphisms in the 13 cytokine genes for five Malay subethnic groups (Kelantan, Acheh, Mandailing, Minangkabau and Patani Malays) using polymerase chain reaction-sequence-specific primer cytokine genotyping kit (Invitrogen, Carlsbad, CA, USA). Most of the cytokine genes showed similar pattern of allelic spectra with wild-type alleles (e.g. ILIa-889/C, ILIB+3962/C and IL6 nt565/G) that represent more than 80% in the studied Malay subethnic groups. These newly observed cytokine alleles and subsequent analyses clearly indicate genetic contribution from Asia in the studied Malay subethnic groups with evidence of admixture from neighbouring populations in Patani Malays. The cytokine data sets for the five Malay subethnic groups deposited in this report can also be used as reference standard for searching suitable donor for allograft transplant and diseases association study. This is particularly relevance as our analyses showed differences between the Malay subethnic groups and other populations screened for cytokine genes.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  7. Association of UCP1 -3826A/G and UCP3 -55C/T gene polymorphisms with obesity and its related traits among multi-ethnic Malaysians
    Lee KH, Chai VY, Kanachamy SS, Say YH
    Ethn Dis, 2015;25(1):65-71.
    PMID: 25812254
    Our study investigated the association of UCP1 -3826A/G and UCP3 -55C/T single nucleotide polymorphisms (SNPs) with obesity and its related traits among multi-ethnic Malaysians.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  8. Heterogeneity of the CYP2D6 gene among Malays in Malaysia
    Teh LK, Ismail R, Yusoff R, Hussein A, Isa MN, Rahman AR
    J Clin Pharm Ther, 2001 Jun;26(3):205-11.
    PMID: 11422605
    Although Malays shared an origin with Chinese, their evolution saw substantial divergences. Phenotyping studies suggested that they differed in CYP2D6 polymorphism, with higher PM prevalence but lesser right-shift for debrisoquine MRs.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  9. Asthma and TNF variants in Chinese and Malays
    Tan EC, Lee BW, Tay AW, Chew FT, Tay AH
    Allergy, 1999 Apr;54(4):402-3.
    PMID: 10371104
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  10. Normal values for total hand length, palm length and middle finger length in Malaysian newborns from 34-42 weeks of gestation
    Halder D, Dharap AS, Than M
    Anthropol Anz, 1999 Mar;57(1):69-75.
    PMID: 10320927
    Early identification of a syndrome at birth is of paramount importance for genetic counselling and possible prevention. Often malformation of the hands and fingers are cardinal manifestations of recognizable syndromes. As there are no published standards for hand and finger size for Malay newborn infants, this study was undertaken to establish normal values for hand, middle finger and palmar lengths, and their indices. A cross-sectional study was done on 509 consecutive newborn Malay babies between 34 and 42 weeks of gestation. Measurements were made on the right hand according to the recommended guidelines of Bergsma & Feingold (1975). The mean values for the measurements did not differ significantly between boys and girls, or change with gestation. For the whole group the mean value for total hand length was 64.4 +/- 3.42 mm, middle finger length 37.1 +/- 2.91 mm, palmar length 27.4 +/- 2.15 mm, finger index 0.425 +/- 0.03 and palmar index 0.58 +/- 0.03. A comparison with published measurements for newborns of different racial origin shows significant differences for the total hand length, middle finger length and palm length from Indian and Jewish infants, but not from Japanese infants. The indices were similar in Malay, Indian, Jewish and Japanese newborn infants.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  11. Genetic polymorphism of CYP2D6 in Chinese subjects in Malaysia
    Ismail R, Teh LK, Amir J, Alwi Z, Lopez CG
    J Clin Pharm Ther, 2003 Aug;28(4):279-84.
    PMID: 12911679
    Although Malaysian Chinese share an origin with the mainland Chinese, their evolution has been influenced by intermarriages. With a gene such as CYP2D6, which is highly polymorphic, it is expected that the Malaysian Chinese would exhibit a polymorphism profile different from those of the Chinese populations in other geographical locations.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  12. Hair distribution on the phalanges of the hands in Malays
    Dharap AS, Varma SL, Chary TV
    Anthropol Anz, 1994 Dec;52(4):315-20.
    PMID: 7840537
    618 Malay subjects were selected randomly to find out the frequency and patterns of hair distribution on the phalanges of their hands. Hair on the proximal phalanx was absent in 2% of the males and in 3.3% of the females. The middle phalangeal hair (MPH) was absent in 78% of the females and in 64.9% of the males. The frequency in order of MPH was found to be 4 > 3 > 5 > 2. Fifteen patterns of hair distribution on the phalanges of the hand were found. Such a large number of patterns has not been reported yet. No subject had hair on the distal phalanges. These observations when compared with earlier studies show that the Malays are similar to other Asiatic populations such as the Japanese and Nepalis.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  13. Five anthroposcopic traits of the ear in a Malaysian population
    Dharap AS, Than M
    Anthropol Anz, 1995 Dec;53(4):359-63.
    PMID: 8579342
    Five anthroposcopic traits concerning the ear, namely ear lobe attachment, position of ears, shape of the helix, presence of Darwin's tubercle and hairy ears have been studied in a Malay population from Malaysia. The results of the present study are compared with similar reports in other ethnic groups.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  14. Fulltext Nucleotide 1376 G-->T mutation in G6PD-deficient Chinese in Malaysia
    Ainoon O, Joyce J, Boo NY, Cheong SK, Hamidah NH
    Malays J Pathol, 1995 Dec;17(2):61-5.
    PMID: 8935127
    G6PD deficiency is the most common human enzymopathy and affects 200 million people worldwide. To date more than 400 biochemical variants and at least 60 different point mutations in the G6PD locus have been discovered. In Malaysia the overall incidence of G6PD deficiency among males is 3.1%, being more prevalent among the Chinese and Malays and less common among the Indians. As part of our initial effort to characterise G6PD deficiency in the Malaysian population, we investigated 18 G6PD deficient Chinese male neonates for the G6PD mutation G-->T at nt 1376, a common mutation seen among the Chinese in Taiwan and mainland China. The mutation was detected by a PCR-based technique using primers that artificially create a site for restriction enzyme Xho I. We found 61% (11 out of 18) of the Chinese G6PD deficient male neonates positive for this mutation. Study of enzyme electrophoretic mobility in 7 of the cases positive for this mutation revealed three different patterns of mobility. 107% (5 out of 7), 103% (1 out of 7) and 100% (1 out of 7). This study shows that mutation G-->T at nt 1376 is a common allele causing G6PD deficiency in Malaysians of Chinese origin. The finding of different patterns of electrophoretic mobility among the 7 cases positive for 1376 G-->T mutation supports the notion that diverse biochemical variants may share the same mutation.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  15. Apolipoprotein A-IV polymorphism in Singapore ethnic groups
    Saha N
    Hum. Hered., 1991;41(1):47-52.
    PMID: 2050382
    A total of 627 subjects comprising 455 Chinese, 127 Dravidian Indians and 45 Malays were investigated for serum Apo A-IV polymorphism. The frequency of Apo A-IV*2 was found to be significantly higher (p less than 0.001) in Indians (0.043) compared to that in the Chinese (0.010) and Malays (0.011). The frequency of A-IV*3 was found to be around 0.02 in all the ethnic groups. A low frequency of A-IV*4 (less than 0.01) was observed in the Chinese and Indians. The phenotypic distribution of Apo A-IV was at Hardy-Weinberg equilibrium in the three ethnic groups.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  16. Distribution of red cell phosphoglucomutase-1 subtypes in several Mongoloid populations of East Asia
    Saha N
    Am. J. Phys. Anthropol., 1988 Sep;77(1):91-6.
    PMID: 2973240
    The distribution of red cell phosphoglucomutase (PGM) subtypes was determined by starch-gel electrophoresis and isoelectric focusing in a group of 2,484 unrelated individuals from ten Mongoloid populations of East Asia. The sample comprised 998 Chinese from various localities--Singapore, 325; Malaysia, 270; Taiwan, 276; Hong Kong, 67; Fouzhou, 60--as well as 342 Koreans; 252 Filipinos; 529 Thais; 336 Malays, and 27 Indonesians. Altogether 15 phenotypes controlled by four common and five rare alleles at the PGM1 locus were observed in these populations. The frequency of the most frequent allele (PGM1+) varied from 0.56 to 0.74, with the highest frequency observed in the Singapore Chinese and the lowest in the Malays. Within the Chinese from different localities a significant degree of heterogeneity was observed at the PGM1 locus. The rare allele (PGM17)6 was observed only among the Chinese, Thais, and Malays, while the PGM1 was lacking in the Filipinos. A new allele with ahigh pI (6.5) was observed in a low frequency in all the populations but the Malays.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  17. Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants
    Li L, Fong CY, Tay CG, Tae SK, Suzuki H, Kosaki K, et al.
    J Clin Neurosci, 2020 Jan;71:289-292.
    PMID: 31493991 DOI: 10.1016/j.jocn.2019.08.111
    Infantile neuroaxonal dystrophy 1 (INAD) (OMIM #256600) is a rare infantile onset neurodegenerative disease characterised by neuroregression and hypotonia, evolving into generalized spasticity, blindness and dementia. We report our diagnostic approach of a pair of siblings with psychomotor regression, hypotonia, optic atrophy and auditory neuropathy. The brain magnetic resonance imaging (MRI) showed progressive cerebellar atrophy. Genetic testing of the PLA2G6 confirmed presence of compound heterozygous novel mutations. As the variant c. 196C>T (p.Gln66X) was a truncating variant, it was considered as pathogenic while the variant c. 2249G>A (p. Cys750Tyr) was considered as "likely pathogenic" by bioinformatics analyses. Our patient expands the clinical phenotype of INAD as it described the first South-East Asian patient with INAD-associated auditory neuropathy. Our report highlights the importance of increased awareness of this condition amongst clinicians, the use of deep phenotyping using neuroimaging and the clinical utility of gene sequencing test in the delineation of syndromes associated with infantile neurodegenerative disease.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  18. Spondyloarthropathies in eastern Asia
    Feltkamp TE, Mardjuadi A, Huang F, Chou CT
    Curr Opin Rheumatol, 2001 Jul;13(4):285-90.
    PMID: 11555729
    The association between HLA-B27 and the spondyloarthropathies (SpAs) is so strong that it is supposed that the HLA-B27 molecule plays a pathogenetic role. In whites and Indonesians, the frequency of HLA-B27 is about 10%; in Chinese it is about 8%; and in Japanese it is only about 1%. The prevalence of SpA in the Chinese is at least 0.2%, but in native Indonesians, Philippinos, and Malaysians, SpA is rarely seen. Twenty-three subtypes (B*2701-B*2723) have been distinguished. These subtypes are not equally distributed over the world. In most countries the distribution of the subtypes among HLA-B27 SpA patients is the same as that among the normal HLA-B27-positive population. In China, the subtype B*2704 is frequent and the prevalence of SpA is high. Native Indonesians, however, mostly have subtype B*2706, and SpA is rarely seen in this population. It was shown that B*2706, probably like B*2709 in Sardinia, is not associated with SpA. The difference between the SpA-associated and non-SpA-associated subtypes is limited to only two amino acid residues (114 and 116) at the bottom of the peptide-binding groove of HLA-B27. This small difference between health and disease rewards studies for different peptide-binding capacities and may help us characterize the peptides that are involved in the pathogenesis of SpA. The differences in disease associations in these countries also have clinical implications. In Southeast Asia, HLA-B27 typing without subtyping has less clinical usefulness than in parts of the world where B*2706 is rarely seen. When native Indonesians, Malaysians, or Philippinos are suspected of having ankylosing spondylitis or a related SpA, it is worth asking if they had white or Chinese ancestors. If native HLA-B27-positive Indonesians (with subtypes other than B*2706) develop SpA, the clinical features are not different from those in other parts of the world. In the Chinese population on the mainland and in Taiwan, juvenile SpA is frequently seen. The onset is often a peripheral arthritis or enthesitis.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  19. Fulltext Genome-wide association studies identify susceptibility loci for epithelial ovarian cancer in east Asian women
    Lawrenson K, Song F, Hazelett DJ, Kar SP, Tyrer J, Phelan CM, et al.
    Gynecol Oncol, 2019 05;153(2):343-355.
    PMID: 30898391 DOI: 10.1016/j.ygyno.2019.02.023
    OBJECTIVE: Genome-wide association studies (GWASs) for epithelial ovarian cancer (EOC) have focused largely on populations of European ancestry. We aimed to identify common germline variants associated with EOC risk in Asian women.

    METHODS: Genotyping was performed as part of the OncoArray project. Samples with >60% Asian ancestry were included in the analysis. Genotyping was performed on 533,631 SNPs in 3238 Asian subjects diagnosed with invasive or borderline EOC and 4083 unaffected controls. After imputation, genotypes were available for 11,595,112 SNPs to identify associations.

    RESULTS: At chromosome 6p25.2, SNP rs7748275 was associated with risk of serous EOC (odds ratio [OR] = 1.34, P = 8.7 × 10-9) and high-grade serous EOC (HGSOC) (OR = 1.34, P = 4.3 × 10-9). SNP rs6902488 at 6p25.2 (r2 = 0.97 with rs7748275) lies in an active enhancer and is predicted to impact binding of STAT3, P300 and ELF1. We identified additional risk loci with low Bayesian false discovery probability (BFDP) scores, indicating they are likely to be true risk associations (BFDP <10%). At chromosome 20q11.22, rs74272064 was associated with HGSOC risk (OR = 1.27, P = 9.0 × 10-8). Overall EOC risk was associated with rs10260419 at chromosome 7p21.3 (OR = 1.33, P = 1.2 × 10-7) and rs74917072 at chromosome 2q37.3 (OR = 1.25, P = 4.7 × 10-7). At 2q37.3, expression quantitative trait locus analysis in 404 HGSOC tissues identified ESPNL as a putative candidate susceptibility gene (P = 1.2 × 10-7).

    CONCLUSION: While some risk loci were shared between East Asian and European populations, others were population-specific, indicating that the landscape of EOC risk in Asian women has both shared and unique features compared to women of European ancestry.

    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  20. Fulltext Human Platelet Antigen Datasets for Malays, Chinese, and Indians in Peninsular Malaysia
    Hajar CGN, Zefarina Z, Md Riffin NS, Mohammad THT, Hassan MN, Dafalla AM, et al.
    Ann Lab Med, 2020 11;40(6):493-499.
    PMID: 32539307 DOI: 10.3343/alm.2020.40.6.493
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
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