Displaying publications 21 - 40 of 301 in total

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  1. Fulltext The association between GJB2 mutation and GJB6 gene in non syndromic hearing loss school children
    Asma A, Ashwaq A, Norzana AG, Atmadini AM, Ruszymah BH, Saim L, et al.
    Med J Malaysia, 2011 Jun;66(2):124-8.
    PMID: 22106692 MyJurnal
    Recently, molecular testing for GJB2 mutations has become the standard of care for the diagnosis of patients with non syndromic hearing impairment of unknown cause. The aims of this study are to determine the association between GJB2 mutation and GJB6 and to report the variation of mutations in deaf students who have heterozygous GJB2. This retrospective study was conducted at Universiti Kebangsaan Malaysia Medical Center (UKMMC). Data was collected from previous files and records from Tissue Engineering and Human Genetic Research Group Laboratory. Approval from Ethical Committee was obtained prior to the study. A total of 138 students have been screened in previous studies in UKMMC for the presence of GJB2 mutations as a cause for hearing loss. Thirty four of the 138 subjects have GJB2 mutations; 2 showed homozygous mutations whereas another 32 were heterozygous for GJB2 gene mutation. Only 31 DNA samples of students presented with sensorineural hearing loss with heterozygous mutation in GJB2 gene were included in this study. The sequencing results obtained were analyzed. The degree of hearing loss of those students with association between GJB2 mutation and GJB6 mutation will be discussed. Five out of 31 subjects (16.2%) have mutations in their GJB6 gene, suggesting a digenic inheritance of GJB2/GJB6 mutation. In total, four novel mutations were identified; E137D (n=1), R32Q (n=1), E101K (n=1) and Y156H (n=1) and one mutation deletion; 366delT (n=1). All students with association GJB2 mutation and GJB6 showed severe to profound hearing loss in both ears. Interestingly this study not detected the large deletion of 342 kb in GJB6 gene suggesting that the mutation is very rare in this region compared to certain parts of the world.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  2. Fulltext Molecular characteristic of alpha thalassaemia among patients diagnosed in UKM Medical Centre
    Azma RZ, Ainoon O, Hafiza A, Azlin I, Noor Farisah AR, Nor Hidayati S, et al.
    Malays J Pathol, 2014 Apr;36(1):27-32.
    PMID: 24763232 MyJurnal
    Alpha (Α) thalassaemia is the most common inherited disorder in Malaysia. The clinical severity is dependant on the number of Α genes involved. Full blood count (FBC) and haemoglobin (Hb) analysis using either gel electrophoresis, high performance liquid chromatography (HPLC) or capillary zone electrophoresis (CE) are unable to detect definitively alpha thalassaemia carriers. Definitive diagnosis of Α-thalassaemias requires molecular analysis and methods of detecting both common deletional and non-deletional molecular abnormailities are easily performed in any laboratory involved in molecular diagnostics. We carried out a retrospective analysis of 1623 cases referred to our laboratory in Universiti Kebangsaan Malaysia Medical Centre (UKMMC) for the diagnosis of Α-thalassaemia during the period October 2001 to December 2012. We examined the frequency of different types of alpha gene abnormalities and their haematologic features. Molecular diagnosis was made using a combination of multiplex polymerase reaction (PCR) and real time PCR to detect deletional and non-deletional alpha genes relevant to southeast Asian population. Genetic analysis confirmed the diagnosis of Α-thalassaemias in 736 cases. Majority of the cases were Chinese (53.1%) followed by Malays (44.2%), and Indians (2.7%). The most common gene abnormality was ΑΑ/--(SEA) (64.0%) followed by ΑΑ/-Α(3.7) (19.8%), -Α(3.7) /--(SEA) (6.9%), ΑΑ/ΑΑCS (3.0%), --(SEA)/--(SEA) (1.2%), -Α(3.7)/-Α(3.7) (1.1%), ΑΑ/-Α(4.2) (0.7%), -Α(4.2)/--(SEA (0.7%), -Α(3.7)/-Α(4.2) (0.5%), ΑΑ(CS)/-- SEA) (0.4%), ΑΑ(CS)/ΑΑ(Cd59) (0.4%), ΑΑ(CS)/ΑΑ(CS) (0.4%), -Α(3.7)/ΑΑ(Cd59) (0.3%), ΑΑ/ΑΑ(Cd59) (0.1%), ΑΑ(Cd59)/ ΑΑ(IVS I-1) (0.1%), -Α(3.7)/ΑΑ(CS) (0.1%) and --(SEA) /ΑΑ(Cd59) (0.1%). This data indicates that the molecular abnormalities of Α-thalassaemia in the Malaysian population is heterogenous. Although Α-gene deletion is the most common cause, non-deletional Α-gene abnormalities are not uncommon and at least 3 different mutations exist. Establishment of rapid and easy molecular techniques is important for definitive diagnosis of alpha thalassaemia, an important prerequisite for genetic counselling to prevent its deleterious complications.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  3. Fulltext HLA DR/DQ type in a Malay population in Kelantan, Malaysia
    Azira NM, Zeehaida M, Nurul Khaiza Y
    Malays J Pathol, 2013 Jun;35(1):65-9.
    PMID: 23817396 MyJurnal
    The human leucocyte antigen (HLA) has been documented to be involved in various disease susceptibilities or in resistance against certain diseases. An important element in susceptibility and resistance to disease is ethnic genetic constitution. Cognizant of this, the present study aimed at studying the prevalence of particular HLA class II in a normal healthy Malay population which may serve as a guide for further genetic and immunological studies related to the Malay Malaysian population. The study involved 40 normal healthy Malay persons in Kelantan. HLA typing was conducted on venous blood samples through a polymerase chain reaction-sequence specific primer method (low resolution Olerup SSP© HLA Typing Kits). The study found HLA DR12 and HLA DQ8 to be the most frequent HLA class II type. HLA DQ5 was significantly associated with female subjects.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  4. 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*
  5. The prevalence of GP Mur and anti-"Mia" in a tertiary hospital in Peninsula Malaysia
    Prathiba R, Lopez CG, Usin FM
    Malays J Pathol, 2002 Dec;24(2):95-8.
    PMID: 12887167
    The Mi III phenotype of the Miltenberger subsystem (or GP Mur) is relatively common in Southeast Asia especially along the south-east coast lines of China and Taiwan. The term anti-"Mia" describes antibodies that react with the Mi III phenotype. Since the Peninsula Malaysian population is a multiethnic one with a significant proportion of Chinese, a study was conducted into the prevalence of anti-"Mia" in patients from its 3 major ethnic groups--Chinese, Malays and Indians, as well as the GP Mur phenotype in blood donors (healthy individuals). Blood samples from 33,716 patients (general and antenatal) were screened for anti-"Mia" from January 1999 to December 2000. The investigation for the GP Mur phenotype representing the corresponding sensitizing antigen complex was carried out in 655 blood donors. Serum anti-"Mia" antibody was found to be the third most commonly occurring antibody detected in our patients and was found in all the ethnic groups. The antibody was detected in 0.2% of 33,716 antenatal and general patients with a prevalence in Chinese of 0.3%, Malay 0.2% and Indian 0.2%. The detection of these antibodies in the ethnic groups other than the Chinese is a noteworthy finding as such information is not well documented. The GP Mur red cell phenotype was detected in 15/306 (4.9%) of Chinese blood donors, a lower prevalence than in Chinese populations in other countries in the region. More significant was its detection in the Malays (2.8%) and the Indians (3.0%). Because of the many reports of clinical problems associated with the "Mia" antibody including the causation of fetal hydrops and haemolytic transfusion reactions, it is warranted that the GP Mur red cells be included in screening panels for group and screen procedures in countries with a significant Asian population.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  6. Racial characteristics of human teeth with special emphasis on the Mongoloid dentition
    Yaacob H, Nambiar P, Naidu MD
    Malays J Pathol, 1996 Jun;18(1):1-7.
    PMID: 10879216
    Determining the racial affinity of an unknown individual from dentition for identification is indeed a difficult endeavour. However, there are certain dental characteristics which are predominant in certain racial groups and these contribute important indicators in the identification process. Inherited dental characteristics are modified by prenatal and postnatal environmental and nutritional conditions. They can also become less discernible due to admixture of the various races.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  7. 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
  8. Fulltext HLA antigens in Malay patients with systemic lupus erythematosus: association with clinical and autoantibody expression
    Azizah MR, Ainol SS, Kong NCT, Normaznah Y, Rahim MN
    Korean J. Intern. Med., 2001 Jun;16(2):123-31.
    PMID: 11590899 DOI: 10.3904/kjim.2001.16.2.123
    BACKGROUND: Studies have shown that certain genes within the major histocompatibility complex predispose to systemic lupus erythematosus (SLE) and may influence clinical and autoantibody expression. Thus, we studied the frequency of HLA-DR, -DQA, -DQB and -DPB alleles in ethnic Malays with SLE to determine the role of these genes in determining disease susceptibility and their association with clinical and immunological manifestations.
    METHODS: Fifty-six Malay SLE patients were enrolled into the study. Demographic, clinical and immunological findings were obtained from medical records. HLA-DR, DQ and DP typing were done using modified PCR-RELP. Controls were from ethnically-matched healthy individuals.
    RESULTS: We found a strongly significant association of the DR2 and DQB1 *0501 and DQB1*0601 (pcorr = 0.03, rr = 3.83, pcorr = 0.0036, rr = 4.56 and pcorr = 0.0048 and rr = 6.0, respectively). There was also a weak increase of DQB1*0.201 and DPB1*0.0901 with a weak decrease of DQA1*0601 and DQB1*0503 and *0301 which were not significant after corrections for multiple comparisons were made. There was a significant positive association of DR2 and DQB1*0501 with renal involvement and DR8 with alopecia. A nonsignificant increase of DQB1*0503 in patients with photosensitivity was noted. Significant autoantibody associations were also found: DQB1*0601 with anti-Sm/RNP, DR2 with antiSSA (Ro)/SSB (La), and DR2, DQB1*0501 and *0601 with antibodies to ds DNA. There was no specific DR, DQ or DP associations with age of disease onset (below 30 years or those at or above 30 years).
    CONCLUSION: Our data suggests the role of the HLA class II genes in conferring SLE susceptibility and in clinical and autoantibody expression.
    Study site: SLE Clinic, Pusat Perubatan Universiti Kebangsaan Malaysia (PPUKM), Kuala Lumpur, Malaysia
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  9. Environmental and genetic determinants of vitamin D insufficiency in 12-month-old infants
    Suaini NH, Koplin JJ, Ellis JA, Peters RL, Ponsonby AL, Dharmage SC, et al.
    J Steroid Biochem Mol Biol, 2014 Oct;144 Pt B:445-54.
    PMID: 25174667 DOI: 10.1016/j.jsbmb.2014.08.018
    We aimed to investigate the relationship between genetic and environmental exposure and vitamin D status at age one, stratified by ethnicity. This study included 563 12-month-old infants in the HealthNuts population-based study. DNA from participants' blood samples was genotyped using Sequenom MassARRAY MALDI-TOF system on 28 single nucleotide polymorphisms (SNPs) in six genes. Using logistic regression, we examined associations between environmental exposure and SNPs in vitamin D pathway and filaggrin genes and vitamin D insufficiency (VDI). VDI, defined as serum 25-hydroxyvitamin D3(25(OH)D3) level ≤50nmol/L, was measured using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Infants were stratified by ethnicity determined by parent's country of birth. Infants formula fed at 12 months were associated with reduced odds of VDI compared to infants with no current formula use at 12 months. This association differed by ethnicity (Pinteraction=0.01). The odds ratio (OR) of VDI was 0.29 for Caucasian infants (95% CI, 0.18-0.47) and 0.04 for Asian infants (95% CI, 0.006-0.23). Maternal vitamin D supplementation during pregnancy and/or breastfeeding were associated with increased odds of infants being VDI (OR, 2.39; 95% CI, 1.11-5.18 and OR, 2.5; 95% CI, 1.20-5.24 respectively). Presence of a minor allele for any GC SNP (rs17467825, rs1155563, rs2282679, rs3755967, rs4588, rs7041) was associated with increased odds of VDI. Caucasian infants homozygous (AA) for rs4588 had an OR of 2.49 of being associated with VDI (95% CI, 1.19-5.18). In a country without routine infant vitamin D supplementation or food chain fortification, formula use is strongly associated with a reduced risk of VDI regardless of ethnicity. There was borderline significance for an association between filaggrin mutations and VDI. However, polymorphisms in vitamin D pathway related genes were associated with increased likelihood of being VDI in infancy.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  10. Polymorphisms identified through genome-wide association studies and their associations with type 2 diabetes in Chinese, Malays, and Asian-Indians in Singapore
    Tan JT, Ng DP, Nurbaya S, Ye S, Lim XL, Leong H, et al.
    J Clin Endocrinol Metab, 2010 Jan;95(1):390-7.
    PMID: 19892838 DOI: 10.1210/jc.2009-0688
    CONTEXT:
    Novel type 2 diabetes mellitus (T2DM) susceptibility loci, identified through genome-wide association studies (GWAS), have been replicated in many European and Japanese populations. However, the association in other East Asian populations is less well characterized.

    OBJECTIVE:
    To examine the effects of SNPs in CDKAL1, CDKN2A/B, IGF2BP2, HHEX, SLC30A8, PKN2, LOC387761, and KCNQ1 on risk of T2DM in Chinese, Malays, and Asian-Indians in Singapore.

    DESIGN:
    We genotyped these candidate single-nucleotide polymorphisms (SNPs) in subjects from three major ethnic groups in Asia, namely, the Chinese (2196 controls and 1541 cases), Malays (2257 controls and 1076 cases), and Asian-Indians (364 controls and 246 cases). We also performed a metaanalysis of our results with published studies in East Asians.

    RESULTS:
    In Chinese, SNPs in CDKAL1 [odds ratio (OR) = 1.19; P = 2 x 10(-4)], HHEX (OR = 1.15; P = 0.013), and KCNQ1 (OR = 1.21; P = 3 x 10(-4)) were significantly associated with T2DM. Among Malays, SNPs in CDKN2A/B (OR = 1.22; P = 3.7 x 10(-4)), HHEX (OR = 1.12; P = 0.044), SLC30A8 (OR = 1.12; P = 0.037), and KCNQ1 (OR = 1.19-1.25; P = 0.003-2.5 x 10(-4)) showed significant association with T2DM. The combined analysis of the three ethnic groups revealed significant associations between SNPs in CDKAL1 (OR = 1.13; P = 3 x 10(-4)), CDKN2A/B (OR = 1.16; P = 9 x 10(-5)), HHEX (OR = 1.14; P = 6 x 10(-4)), and KCNQ1 (OR = 1.16-1.20; P = 3 x 10(-4) to 3 x 10(-6)) with T2DM. SLC30A8 (OR = 1.06; P = 0.039) showed association only after adjustment for gender and body mass index. Metaanalysis with data from other East Asian populations showed similar effect sizes to those observed in populations of European ancestry.

    CONCLUSIONS:
    SNPs at T2DM susceptibility loci identified through GWAS in populations of European ancestry show similar effects in Asian populations. Failure to detect these effects across different populations may be due to issues of power owing to limited sample size, lower minor allele frequency, or differences in genetic effect sizes.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  11. Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia
    Chai JF, Kao SL, Wang C, Lim VJ, Khor IW, Dou J, et al.
    J Clin Endocrinol Metab, 2020 Dec 01;105(12).
    PMID: 32936915 DOI: 10.1210/clinem/dgaa658
    CONTEXT: Glycated hemoglobin A1c (HbA1c) level is used to screen and diagnose diabetes. Genetic determinants of HbA1c can vary across populations and many of the genetic variants influencing HbA1c level were specific to populations.

    OBJECTIVE: To discover genetic variants associated with HbA1c level in nondiabetic Malay individuals.

    DESIGN AND PARTICIPANTS: We conducted a genome-wide association study (GWAS) analysis for HbA1c using 2 Malay studies, the Singapore Malay Eye Study (SiMES, N = 1721 on GWAS array) and the Living Biobank study (N = 983 on GWAS array and whole-exome sequenced). We built a Malay-specific reference panel to impute ethnic-specific variants and validate the associations with HbA1c at ethnic-specific variants.

    RESULTS: Meta-analysis of the 1000 Genomes imputed array data identified 4 loci at genome-wide significance (P 

    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  12. Whole genome sequencing identifies genetic variants associated with co-trimoxazole hypersensitivity in Asians
    Wang CW, Tassaneeyakul W, Chen CB, Chen WT, Teng YC, Huang CY, et al.
    J Allergy Clin Immunol, 2021 04;147(4):1402-1412.
    PMID: 32791162 DOI: 10.1016/j.jaci.2020.08.003
    BACKGROUND: Co-trimoxazole, a sulfonamide antibiotic, is used to treat a variety of infections worldwide, and it remains a common first-line medicine for prophylaxis against Pneumocystis jiroveci pneumonia. However, it can cause severe cutaneous adverse reaction (SCAR), including Stevens-Johnson syndrome, toxic epidermal necrolysis, and drug reaction with eosinophilia and systemic symptoms. The pathomechanism of co-trimoxazole-induced SCAR remains unclear.

    OBJECTIVE: We aimed to investigate the genetic predisposition of co-trimoxazole-induced SCAR.

    METHODS: We conducted a multicountry case-control association study that included 151 patients with of co-trimoxazole-induced SCAR and 4631 population controls from Taiwan, Thailand, and Malaysia, as well as 138 tolerant controls from Taiwan. Whole-genome sequencing was performed for the patients and population controls from Taiwan; it further validated the results from Thailand and Malaysia.

    RESULTS: The whole-genome sequencing study (43 case patients vs 507 controls) discovered that the single-nucleotide polymorphism rs41554616, which is located between the HLA-B and MICA loci, had the strongest association with co-trimoxazole-induced SCAR (P = 8.2 × 10-9; odds ratio [OR] = 7.7). There were weak associations of variants in co-trimoxazole-related metabolizing enzymes (CYP2D6, GSTP1, GCLC, N-acetyltransferase [NAT2], and CYP2C8). A replication study using HLA genotyping revealed that HLA-B∗13:01 was strongly associated with co-trimoxazole-induced SCAR (the combined sample comprised 91 case patients vs 2545 controls [P = 7.2 × 10-21; OR = 8.7]). A strong HLA association was also observed in the case patients from Thailand (P = 3.2 × 10-5; OR = 3.6) and Malaysia (P = .002; OR = 12.8), respectively. A meta-analysis and phenotype stratification study further indicated a strong association between HLA-B∗13:01 and co-trimoxazole-induced drug reaction with eosinophilia and systemic symptoms (P = 4.2 × 10-23; OR = 40.1).

    CONCLUSION: This study identified HLA-B∗13:01 as an important genetic factor associated with co-trimoxazole-induced SCAR in Asians.

    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  13. Genetic polymorphisms and drug interactions leading to clopidogrel resistance: why the Asian population requires special attention
    Hasan MS, Basri HB, Hin LP, Stanslas J
    Int J Neurosci, 2013 Mar;123(3):143-54.
    PMID: 23110469 DOI: 10.3109/00207454.2012.744308
    Ischemic heart disease and stroke are the two leading causes of death worldwide. Antiplatelet therapy plays the most significant role in the management of these cardiovascular and cerebrovascular occlusive events to prevent recurrent ischemic attack. Clopidogrel, an antiplatelet drug, is widely prescribed either alone or in combination with aspirin as dual antiplatelet therapy for the prevention of vascular occlusive events. The antiplatelet response to clopidogrel varies widely. Hyporesponders and nonresponders are likely to have adverse cardiovascular events during follow-up. Some drugs, such as proton pump inhibitors (omeprazole), calcium channel blockers, selective serotonin reuptake inhibitors (nefazadone), coumarin derivatives (phenprocoumon), benzodiazepines, sulfonylurea, erythromycin, and itraconazole, decrease the antiplatelet effect of clopidogrel when administered concomitantly. Decreased response to clopidogrel is common among Asians due to genetic polymorphisms associated with clopidogrel resistance, and it is nearly 70% in some of the Asian communities. It is necessary to study Asian populations, because there are a large number of Asians throughout the world due to increased migration. Current guidelines do not make genetic testing or platelet response testing mandatory prior to clopidogrel prescription. Therefore, it is important for clinicians treating Asian patients to keep in mind the interindividual variability in response to clopidogrel when prescribing the drug.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
  14. Fulltext 2245G/A polymorphism of the receptor for advanced glycation end-products (RAGE) gene is associated with diabetic retinopathy in the Malaysian population
    Ng ZX, Kuppusamy UR, Tajunisah I, Fong KC, Koay AC, Chua KH
    Br J Ophthalmol, 2012 Feb;96(2):289-92.
    PMID: 22116960 DOI: 10.1136/bjophthalmol-2011-300658
    The receptor for advanced glycation end-products (RAGE) has been implicated in the pathogenesis of diabetic microvascular complications. The aim of this study was to investigate the association between 2245G/A gene polymorphism of the RAGE gene and retinopathy in Malaysian type 2 diabetic patients.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  15. Polymorphisms in P53 and VEGFA genes in different subtypes of periorbital hyperpigmentation in a Malaysian Chinese population
    Amini F, Thazin Oo NM, Okechukwu PN, Seghayat MS, Ng ESC
    Australas J Dermatol, 2019 May;60(2):e99-e104.
    PMID: 30215845 DOI: 10.1111/ajd.12918
    BACKGROUND/OBJECTIVES: The unknown pathogenesis of periorbital hyperpigmentation makes its treatment difficult. Existing evidence links p53 and VEGFA genes with skin hyperpigmentation. This study was aimed at (i) identifying the clinical pattern of periorbital hyperpigmentation; and (ii) detecting the presence of VEGFA and P53 single nucleotide polymorphism (SNPs) in different subtypes of periorbital hyperpigmentation in Malaysian Chinese.

    METHODS: A cross-sectional study was conducted among Malaysian Chinese. Clinical assessments were performed, and medical history was collected. Three regions of p53 and two of VEGFA were amplified by PCR followed by direct sequencing using saliva-extracted DNA.

    RESULTS: Eighty-four participants were recruited (average age 22.2 years). In the majority (n = 62), both eyelids were affected. Facial pigmentary, demarcation lines, tear trough and eye bags were not observed. Mixed (pigmented-vascular) was the most common subtype. Thirteen SNPs were found, nine of which are new. Only three out of 13 SNPs showed significant association with periorbital hyperpigmentation presentation. TA genotype in rs1437756379 (p53) was significantly more prevalent among participants with mixed subtype (P = 0.011) while AC genotype in rs1377053612 (VEGFA) was significantly more prevalent among pigmented subtype (P = 0.028). AA genotype in rs1479430148 (VEGFA) was significantly associated with allergic rhinitis in mixed subtype (P = 0.012).

    CONCLUSION: Mixed subtype was the most prevalent type of periorbital hyperpigmentation in the study population. Three polymorphisms in p53 and VEGFA genes were statistically linked with different clinical presentations of periorbital hyperpigmentation.

    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  16. Lack of association between synapsin II (SYN2) gene polymorphism and susceptibility epilepsy: a case-control study and meta-analysis
    Haerian BS, Lim KS, Tan HJ, Wong CP, Wong SW, Tan CT, et al.
    Synapse, 2011 Oct;65(10):1073-9.
    PMID: 21465568 DOI: 10.1002/syn.20939
    The SYN2 rs3773364 A>G polymorphism has been proposed to be involved in susceptibility to epilepsy, but research results have been inconclusive. The aim of this study was to investigate the association between the SYN2 rs3773364 A>G polymorphism and susceptibility against epilepsy in a case-control study and a meta-analysis.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  17. Fulltext Genome-Wide Association Analysis of Young-Onset Stroke Identifies a Locus on Chromosome 10q25 Near HABP2
    Cheng YC, Stanne TM, Giese AK, Ho WK, Traylor M, Amouyel P, et al.
    Stroke, 2016 Feb;47(2):307-16.
    PMID: 26732560 DOI: 10.1161/STROKEAHA.115.011328
    BACKGROUND AND PURPOSE: Although a genetic contribution to ischemic stroke is well recognized, only a handful of stroke loci have been identified by large-scale genetic association studies to date. Hypothesizing that genetic effects might be stronger for early- versus late-onset stroke, we conducted a 2-stage meta-analysis of genome-wide association studies, focusing on stroke cases with an age of onset <60 years.

    METHODS: The discovery stage of our genome-wide association studies included 4505 cases and 21 968 controls of European, South-Asian, and African ancestry, drawn from 6 studies. In Stage 2, we selected the lead genetic variants at loci with association P<5×10(-6) and performed in silico association analyses in an independent sample of ≤1003 cases and 7745 controls.

    RESULTS: One stroke susceptibility locus at 10q25 reached genome-wide significance in the combined analysis of all samples from the discovery and follow-up stages (rs11196288; odds ratio =1.41; P=9.5×10(-9)). The associated locus is in an intergenic region between TCF7L2 and HABP2. In a further analysis in an independent sample, we found that 2 single nucleotide polymorphisms in high linkage disequilibrium with rs11196288 were significantly associated with total plasma factor VII-activating protease levels, a product of HABP2.

    CONCLUSIONS: HABP2, which encodes an extracellular serine protease involved in coagulation, fibrinolysis, and inflammatory pathways, may be a genetic susceptibility locus for early-onset stroke.

    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  18. Fulltext Evaluation of two short tandem repeat multiplex systems for post-haematopoietic stem cell transplantation chimerism analysis
    Ariffin H, Daud SS, Mohamed Z, Ibrahim K, Lee TF, Chong LA
    Singapore Med J, 2007 Apr;48(4):333-7.
    PMID: 17384881
    The follow-up of chimerism status after allogeneic haematopoietic stem cell transplantation (HSCT) is essential to predict successful engraftment to assess the development of graft-versus-host disease, graft rejection and disease relapse. Analysis of short tandem repeats (STR) via polymerase chain reaction is frequently used for chimerism determination. However, most commercially-available kits have been designed for forensic purposes and may not be optimal for chimerism analysis. The present study aims to identify suitable STR markers for patient-donor pairs of predominantly Malay and Chinese ethnicity using two commercially-available forensic kits.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  19. Fulltext Human leukocyte class I antigen alleles A2 and A11 are not associated with nasopharyngeal carcinoma in West Malaysia
    Lee LK, Tan EL, Gopala K, Sam CK
    Singapore Med J, 2007 Jul;48(7):632-4.
    PMID: 17609824
    Nasopharyngeal carcinoma (NPC) is the second most common cancer among Malaysian Chinese males. We determined the frequencies of 17 human leukocyte antigens (HLA), HLA-A and HLA-B, alleles in 88 Malaysian Chinese with NPC.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics
  20. Fulltext Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays
    Zilfalil BA, Sarina S, Liza-Sharmini AT, Oldfield NJ, Stenhouse SA
    Singapore Med J, 2006 Feb;47(2):129-33.
    PMID: 16435054
    Cystic fibrosis (CF) is one of the common genetic disorders in the western world. It has been reported to be very rare in Asian populations. According to the Cystic Fibrosis Genetic Analysis Consortium, more than 1,000 mutations of the CF gene have been identified. The CF gene, named the cystic fibrosis transmembrane conductance regulator (CFTR), is located on chromosome 7 and composed of 27 exons. This study aims to detect possible CFTR gene mutations in Malays.
    Matched MeSH terms: Asian Continental Ancestry Group/genetics*
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