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  1. Mehdi WA, Mehde AA, Yusof F, Raus RA, Resen AK, Ghazali H
    Int J Biol Macromol, 2019 Nov 01;140:719-726.
    PMID: 31445152 DOI: 10.1016/j.ijbiomac.2019.08.184
    BACKGROUND: The genetic features indicate a crucial role in nephrolithiasis. The present study was aimed to investigate the role of Glutathione-S-transferase Mu (GSTM1), Glutathione-S- transferase Theta (GSTT1) and endothelial nitric oxide synthase (eNOs) gene polymorphism in nephrolithiasis.

    METHODS: We involved a case-control study in which 480 individuals were divided into 240 healthy control and 240 patients with nephrolithiasis. For each patient and control, we measured biochemical criteria, levels of glutathione S-transferase, eNOs, GSTM1, GSTT1genes and eNOS genes polymorphism by PCR-RFLP.

    RESULTS: GSTM1 and GSTT1 null genotypes are not a risk features for nephrolithiasis. The eNOS frequency GG, GT, and TT genotypes by using Ban II enzyme as restriction enzyme were found to be (48.33, 36.67, and 15.00) %. The eNOS frequency TT, GT, and GG genotypes by using the Ban II enzyme as restriction enzyme were found to be 15.84, 25.83, and 58.33%, respectively. The result showed an increase in serum eNOs levels were in the patient's group comparing to control.

    CONCLUSIONS: This work is the first in the literature to study the relation between eNOs genes polymorphisms and nephrolithiasis. The results conclude that TT genotypes in the eNOs genes are associated with an increase the oxidative stress in patients.

    Matched MeSH terms: Case-Control Studies
  2. Davis TM, Singh B, Choo KE, Ibrahim J, Sulaiman SA, Kadir ZA, et al.
    J Intern Med, 1998 May;243(5):349-54.
    PMID: 9651556
    OBJECTIVES: To investigate the dynamic parathyroid response to rapidly induced, sustained hypocalcaemia in patients with acute malaria and in healthy volunteers.

    DESIGN: Serum intact parathormone (PTH) concentrations were measured on samples taken before and during a variable-rate tri-sodium citrate infusion designed to 'clamp' the whole blood ionised calcium concentration 0.20 mmol L-1 below baseline for 120 min.

    SUBJECTS: Six Malaysian patients aged 17-42 years with acute malaria, four of whom were restudied in convalescence, and 12 healthy controls aged 19-36 years.

    MAIN OUTCOME MEASURES: Whole-blood ionised calcium and serum intact PTH concentrations.

    RESULTS: The mean (SD baseline ionised calcium was lower in the malaria patients than in controls (1.09 +/- 0.06 vs. 1.18 +/- 0.03 mmol L-1, respectively; P = 0.01) but PTH concentrations were similar (3.0 +/- 1.8 vs. 3.3 +/- 1.3 pmol L(-1); P = 0.33). Target whole-blood ionised calcium concentrations were achieved more rapidly in the controls than the patients (within 15 vs. 30 min) despite significantly more citrate being required in the patients (area under the citrate infusion-time curve 0.95 (0.25 vs. 0.57 +/- 0.09 mmol kg-1; P < 0.01). The ratio of the change in serum PTH to that in ionised calcium (delta PTH/ delta Ca2+), calculated to adjust for differences in initial rate of fall of ionised calcium, was similar during the first 5 min of the clamp (132 +/- 75 x 10(-6) vs. 131 +/- 43 x 10(-6) in patients and controls, respectively, P > 0.05), as were steady-state serum PTH levels during the second hour (7.0 +/- 2.2 pmol L-1 in each case). Convalescent patients had normal basal ionised calcium levels but the lowest serum intact PTH levels before and during the clamp, consistent with an increase in skeletal PTH sensitivity after treatment.

    CONCLUSIONS: There is a decreased ionised calcium 'set point' for basal PTH secretion but a normal PTH response to acute hypocalcaemia in malaria. Skeletal resistance may attenuate the effects of the PTH response but patients with malaria appear relatively resistant to the calcium chelating effects of citrated blood products.

    Matched MeSH terms: Case-Control Studies
  3. Ong FM, Husna Nik Hassan NF, Azman M, Sani A, Mat Baki M
    J Voice, 2019 Jul;33(4):581.e17-581.e23.
    PMID: 29793874 DOI: 10.1016/j.jvoice.2018.01.015
    OBJECTIVES: This study aimed to determine the validity and reliability of Bahasa Malaysia version of Voice Handicap Index-10 (mVHI-10).

    MATERIALS AND METHODS: This cross-sectional study was carried out in the Otorhinolaryngology, Head and Neck Surgery Department of Universiti Kebangsaan Malaysia Medical Centre (UKMMC) from June 2015 to May 2016. The mVHI-10 was produced following a rigorous forward and backward translation. One hundred participants, including 50 healthy volunteers (17 male, 33 female) and 50 patients with voice disorders (26 male, 24 female), were recruited to complete the mVHI-10 before flexible laryngoscopic examinations and acoustic analysis. The mVHI-10 was repeated in 2 weeks via telephone interview or clinic visit. Its reliability and validity were assessed using interclass correlation.

    RESULTS: The test-retest reliability for total mVHI-10 and each item score was high, with the Cronbach alpha of >0.90. The total mVHI-10 score and domain scores were significantly higher (P 

    Matched MeSH terms: Case-Control Studies
  4. Sharif OM, Hassan R, Mohammed Basbaeen AA, Mohmed AH, Ibrahim IK
    Asian Pac J Cancer Prev, 2019 07 01;20(7):1939-1943.
    PMID: 31350948 DOI: 10.31557/APJCP.2019.20.7.1939
    Background: Interleukin-10 (IL-10) is a multifunctional cytokine with both immunosuppressive and antiangiogenicfunctions
    and may have both tumor-promoting and -inhibiting properties. We examined the association
    between a single nucleotide polymorphism (SNP) in IL-10 -1082G/A (rs1800896) in Sudanese acute myeloid leukemia
    (AML) patients and to assess the association between polymorphisms in IL-10 -1082G/A (rs1800896) and the
    hematological profile in Sudanese patients with AML. Methods: A total of 30 patients with acute myeloid leukemia
    and 30 control subjects were enrolled in this study. Blood samples were collected from all patients in EDTA containing
    tubes. Genomic DNA was extracted from all blood samples using salting out method. The genotypic variants of
    IL-10 (-1082G/A) polymorphism were detected by allele specific-PCR. Results: We found that (36.7%) of patients have
    homogenous GG genotype, (43.3%) have heterogeneous GA genotype and (20.0%) have AA genotype. GA genotype
    was significantly associated with higher risk of AML compared with the homozygous Genotypes (GG and AA), there is
    no association between IL-10 (-1082G/A) polymorphism and AML sub-type, gender, age group, mean of hematological
    parameters. Conclusion: Our study concluded that GA genotype of IL-10 -1082G/A (rs1800896) polymorphism is a
    risk factor for AML and G allele is insignificantly higher than A allele in AML patient. No association between IL-10
    (-1082G/A) polymorphism and AML sub-type, gender, age group, mean of hematological parameters.
    Matched MeSH terms: Case-Control Studies
  5. Aldoghachi AF, Tor YS, Redzun SZ, Lokman KAB, Razaq NAA, Shahbudin AF, et al.
    PLoS One, 2019;14(1):e0211241.
    PMID: 30677092 DOI: 10.1371/journal.pone.0211241
    BACKGROUND: Brain-derived neurotrophic factor (BDNF) is a neurotrophin found in abundance in brain regions such as the hippocampus, cortex, cerebellum and basal forebrain. It has been associated with the risk of susceptibility to major depressive disorder (MDD). This study aimed to determine the association of three BDNF variants (rs6265, rs1048218 and rs1048220) with Malaysian MDD patients.

    METHODS: The correlation of these variants to the plasma BDNF level among Malaysian MDD patients was assessed. A total of 300 cases and 300 matched controls recruited from four public hospitals within the Klang Valley of Selangor State, Malaysia and matched for age, sex and ethnicity were screened for BDNF rs6265, rs1048218 and rs1048220 using high resolution melting (HRM).

    FINDINGS: BDNF rs1048218 and BDNF rs1048220 were monomorphic and were excluded from further analysis. The distribution of the alleles and genotypes for BDNF rs6265 was in Hardy-Weinberg equilibrium for the controls (p = 0.13) but was in Hardy Weinberg disequilibrium for the cases (p = 0.011). Findings from this study indicated that having BDNF rs6265 in the Malaysian population increase the odds of developing MDD by 2.05 folds (95% CI = 1.48-3.65). Plasma from 206 cases and 206 controls were randomly selected to measure the BDNF level using enzyme-linked immunosorbent assay (ELISA). A significant decrease in the plasma BDNF level of the cases as compared to controls (p<0.0001) was observed. However, there was no evidence of the effect of the rs6265 genotypes on the BDNF level indicating a possible role of other factors in modulating the BDNF level that warrants further investigation.

    CONCLUSION: The study indicated that having the BDNF rs6265 allele (A) increase the risk of developing MDD in the Malaysian population suggesting a possible role of BDNF in the etiology of the disorder.

    Matched MeSH terms: Case-Control Studies
  6. Gheitasi R, Jourghasemi S, Pakzad I, Hosseinpour Sarmadi V, Samieipour Y, Sekawi Z, et al.
    Mol Biol Rep, 2019 Dec;46(6):6495-6500.
    PMID: 31595441 DOI: 10.1007/s11033-019-05095-w
    Brucellosis is the most common bacterial zoonotic infection. This pathogen may survive and sustain in host. The aim of this study is to define relationship between long noncoding (lnc) RNA-IFNG-AS1 and interferon gamma (IFN-γ) in different groups of patients with brucellosis compared to control group. In this study, associations of lncRNA IFNG-AS1 expression with secretion of IFN-γ level in Sixty patients with brucellosis, which were divided into 3 groups (acute, chronic and relapse groups), as a case group were compared with 20 subjects with negative serological tests and brucellosis clinical manifestation as a control group. In this regard, RNA were extracted from isolated peripheral blood mononuclear cells (PBMCs). LncRNA IFNG-AS1, T-box transcription factor (T-bet) and IFN-γ expressions were detected using quantitative polymerase chain reaction (qPCR). Serum level IFN-γ was assessed using enzyme linked immunosorbent assay (ELISA). The results showed that expression level of LncRNA IFNG-AS1, T-bet and IFN-γ increased significantly in all patient groups in compared to healthy subjects (P control group (P 
    Matched MeSH terms: Case-Control Studies
  7. Shafiee MN, Ortori CA, Barrett DA, Mongan NP, Abu J, Atiomo W
    Int J Mol Sci, 2020 Jul 03;21(13).
    PMID: 32635401 DOI: 10.3390/ijms21134753
    Women with polycystic ovary syndrome (PCOS) are more likely to develop endometrial cancer (EC). The molecular mechanisms which increase the risk of EC in PCOS are unclear. Derangements in lipid metabolism are associated with EC, but there have been no studies, investigating if this might increase the risk of EC in PCOS. This was a cross-sectional study of 102 women in three groups of 34 (PCOS, EC and controls) at Nottingham University Hospital, UK. All participants had clinical assessments, followed by obtaining plasma and endometrial tissue samples. Lipidomic analyses were performed using liquid chromatography (LC) coupled with high resolution mass spectrometry (HRMS) and the obtained lipid datasets were screened using standard software and databases. Using multivariate data analysis, there were no common markers found for EC and PCOS. However, on univariate analyses, both PCOS and EC endometrial tissue samples showed a significant decrease in monoacylglycerol 24:0 and capric acid compared to controls. Further studies are required to validate these findings and investigate the potential role of monoacylglycerol 24:0 and capric acid in the link between PCOS with EC.
    Matched MeSH terms: Case-Control Studies
  8. Nordin F, Idris MRM, Mahdy ZA, Wahid SFA
    BMC Pregnancy Childbirth, 2020 Jul 10;20(1):399.
    PMID: 32650736 DOI: 10.1186/s12884-020-03084-7
    BACKGROUND: Umbilical cord blood (UCB) has been proposed as the potential source of haematopoietic stem cells (HSC) for allogeneic transplantation. However, few studies have shown that a common disease in pregnancy such as preeclampsia would affect the quality of UCB-HSC. Total nucleated cell count (TNC) is an important parameter that can be used to predict engraftment including UCB banking. Colony forming unit (CFU) assay is widely used as an indicator to predict the success of engraftment, since direct quantitative assay for HSC proliferation is unavailable. The aim of this study is to investigate the effects of preeclampsia in pregnancy on the stemness and differentiation potency of UCB-HSC.

    METHODS: Mononuclear cells (MNC) were isolated from UCB and further enriched for CD34+ cells using immune-magnetic method followed by CFU assay. A panel of HSC markers including differentiated haematopoietic markers were used to confirm the differentiation ability of UCB-HSC by flow cytometry analysis.

    RESULTS/ DISCUSSION: The HSC progenitor's colonies from the preeclampsia group were significantly lower compared to the control. This correlates with the low UCB volume, TNC and CD34+ cells count. In addition, the UCB-enriched CD34+ population were lymphoid progenitors and capable to differentiate into natural killer cells and T-lymphocytes.

    CONCLUSION: These findings should be taken into consideration when selecting UCB from preeclamptic mothers for banking and predicting successful treatment related to UCB transplant.

    Matched MeSH terms: Case-Control Studies
  9. Lim YY, Chin YM, Tai MC, Fani S, Chang KM, Ong TC, et al.
    Leuk Lymphoma, 2015 Jan;56(1):163-8.
    PMID: 24684230 DOI: 10.3109/10428194.2014.907895
    We evaluated the association of two IL10 single nucleotide polymorphisms (SNPs) (rs1800896 and rs1800871) with non-Hodgkin lymphoma (NHL) risk in the three major races of the Malaysian population (Malay, Chinese and Indian; 317 cases and 330 controls). Our initial screening demonstrated that rs1800871 but not rs1800896 was significantly associated with increased NHL risk in Malays (pMalay-Rec = 0.007) and Chinese only (pChinese-Rec = 0.039). Subsequent combined analysis of the Malay and Chinese revealed significant association of rs1800871 with all (ALL) NHL subtypes (pMeta-ALL-NHL-Rec = 0.001), ALL B-cell subtypes (pMeta-ALL-B-cell-Rec = 0.003), diffuse large B-cell lymphoma (DLBCL) subtype (pMeta-DLBCL-Rec = 0.002) and ALL T-cell subtypes (pMeta-ALL-T-cell-Rec = 0.031). SNP rs1800896 showed increased risk only in follicular lymphoma (FL) (pMeta-FL-Dom = 0.0004). We also detected a male-specific association of rs1800871 with increased NHL risk (pMeta-Male-ALL-NHL-Rec = 0.006) in the combined analysis. To our knowledge, this is the first report on the association of IL10 promoter SNPs with NHL susceptibility in the three major races of Malaysia.
    Matched MeSH terms: Case-Control Studies
  10. Low DE, Nurul-Aain AF, Tan WC, Tang JJ, Bakhtiar MF, Murad S, et al.
    Pharmacogenet Genomics, 2020 09;30(7):153-160.
    PMID: 32433341 DOI: 10.1097/FPC.0000000000000408
    OBJECTIVE: The association between human leukocyte antigen (HLA)-B*58:01 and risk of allopurinol-induced severe cutaneous adverse reactions (AIS) was observed across different populations. We explore the association between HLA-B*58:01 and AIS risk in multiethnic Malaysian population. The HLA-B*58:01 risk for different AIS clinical phenotypes and ethnicity was determined.

    METHODS: We performed a case-control association study by genotyping the HLA-B alleles of 55 patients with AIS [11 toxic epidermal necrolysis (TEN), 21 Steven Johnson syndrome (SJS) 22 drug reaction wit eosinophilia and systemic symptoms (DRESS) and one acute generalized exanthematous pustulosis (AGEP)] and 42 allopurinol-tolerant controls (ATC).

    RESULTS: HLA-B*58:01 was positive in 89.1 and 14.3% of the AIS and ATC study groups [odds ratio (OR) = 49.0, 95% confidence interval (CI) = 14.6-164.4, P < 0.0001)], respectively. Our data showed that 93.8% of the AIS-SJS/TEN patients and 86.4% of the AIS-DRESS patients were HLA-B*58:01 positive (AIS-SJS/TEN, OR = 90, 95% CI = 16.9-470.1, P < 0.0001 and AIS-DRESS OR = 38, 95% CI = 8.5-169.2, P < 0.0001). Stratification by ethnicity and clinical phenotypes revealed a significant increased risk between HLA-B*58:01 and Chinese-AIS patients (OR = 137.5, 95% CI = 11.3-1680.2, P < 0.0001), in particular Chinese patients with AIS-SJS/TEN phenotype (100% HLA-B*58:01 positive). HLA-B*58:01 was positive in 90.9% Chinese AIS-DRESS (P < 0.0001). Highly significant associations of HLA-B*58:01 were observed in Malay AIS-SJS/TEN (OR = 78, 95% CI = 9.8-619.9, P < 0.0001) and Malay AIS-DRESS (OR = 54, 95% CI = 6.6-442.9, P < 0.0001). Although the number of Indian-AIS patients was relatively small (n = 2), both were HLA-B*58:01 positive.

    CONCLUSION: Our data suggest strong associations between HLA-B*58:01 and AIS in Malaysian population with Chinese and Malays ethnicity. The strong association was also observed in three different clinical phenotypes of AIS, mainly the AIS-SJS/TEN.

    Matched MeSH terms: Case-Control Studies
  11. Zain SM, Mohamed R, Mahadeva S, Cheah PL, Rampal S, Basu RC, et al.
    Hum Genet, 2012 Jul;131(7):1145-52.
    PMID: 22258181 DOI: 10.1007/s00439-012-1141-y
    The adiponutrin (PNPLA3) rs738409 polymorphism has been found to be associated with susceptibility to non-alcoholic fatty liver disease (NAFLD) in various cohorts. We further investigated the association of this polymorphism with non-alcoholic steatohepatitis (NASH) severity and with histological features of NAFLD. A total of 144 biopsy-proven NAFLD patients and 198 controls were genotyped for PNPLA3 gene polymorphism (rs738409 C>G). The biopsy specimens were histologically graded by a qualified pathologist. We observed an association of G allele with susceptibility to NAFLD in the pooled subjects (OR 2.34, 95% CI 1.69-3.24, p < 0.0001), and following stratification, in each of the three ethnic subgroups, namely Chinese, Indian and Malay (OR 1.94, 95% CI 1.12-3.37, p = 0.018; OR 3.51, 95% CI 1.69-7.26, p = 0.001 and OR 2.05, 95% CI 1.25-3.35, p = 0.005, respectively). The G allele is associated with susceptibility to NASH (OR 2.64, 95% CI 1.85-3.75, p < 0.0001), with NASH severity (OR 1.85, 95% CI 1.05-3.26, p = 0.035) and with presence of fibrosis (OR 1.95, 95% CI 1.17-3.26, p = 0.013) but not with simple steatosis nor with other histological parameters. Although the serum triglyceride level is significantly higher in NAFLD patients compared to controls, the G allele is associated with decreased level of triglycerides (p = 0.029) in the NAFLD patients. Overall, the rs738409 G allele is associated with severity of NASH and occurrence of fibrosis in patients with NAFLD.
    Matched MeSH terms: Case-Control Studies
  12. Azanan MS, Chandrasekaran S, Rosli ES, Chua LL, Oh L, Chin TF, et al.
    J Pediatr Hematol Oncol, 2020 08;42(6):e394-e400.
    PMID: 32118813 DOI: 10.1097/MPH.0000000000001766
    BACKGROUND: Microvascular endothelial dysfunction is central to the pathogenesis of cardiovascular disease (CVD). The eye offers direct access for endothelial health assessment via the retinal microvasculature. The aim of the study was to investigate whether image-based retinal vessel analysis is a feasible method of assessing endothelial health in survivors of childhood acute lymphoblastic leukemia (cALL).

    MATERIALS AND METHODS: Cardiovascular risk factors (CRFs) were estimated using the 30-year Framingham Risk Score in 73 childhood leukemia survivors (median age: 25; median years from diagnosis: 19) and 78 healthy controls (median age: 23). Radial arterial stiffness was measured using pulse wave analyzer, while endothelial activation markers were measured by soluble intercellular adhesion molecule 1 (sICAM-1) and soluble vascular cell adhesion molecule 1 (sVCAM-1). Retinal fundus images were analyzed for central retinal artery/vein equivalents (CRAE/CRVE) and arteriolar-venular ratio (AVR).

    RESULTS: cALL survivors had higher CRF (P<0.0001), arterial stiffness (P=0.001), and sVCAM-1 (P=0.007) compared with controls. Survivors also had significantly higher CRVE (P=0.021) while AVR was significantly lower (P=0.026) in survivors compared with controls, compatible with endothelial dysfunction. In cALL survivors with intermediate risk for CVD, CRAE, and AVR are significantly lower, while sVCAM-1 and sICAM-1 are significantly higher when compared with survivors with low CVD risk after adjusting with covariates (age, sex, and smoking status).

    CONCLUSIONS: cALL survivors have an increased risk of CVD compared with age-matched peers. The survivors demonstrated microvasculopathy, as measured by retinal vascular analysis, in addition to physical and biochemical evidence of endothelial dysfunction. These changes predate other measures of CVD. Retinal vessel analysis may be utilized as a robust screening tool for identifying survivors at increased risk for developing CVD.

    Matched MeSH terms: Case-Control Studies
  13. Grove J, Ripke S, Als TD, Mattheisen M, Walters RK, Won H, et al.
    Nat Genet, 2019 03;51(3):431-444.
    PMID: 30804558 DOI: 10.1038/s41588-019-0344-8
    Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.
    Matched MeSH terms: Case-Control Studies
  14. Tong WT, Lee YK, Ng CJ, Lee PY
    PLoS One, 2020;15(12):e0244645.
    PMID: 33378349 DOI: 10.1371/journal.pone.0244645
    BACKGROUND: Many patient decision aids (PDAs) are developed in academic settings by academic researchers. Academic settings are different from public health clinics where the focus is on clinical work. Thus, research on implementation in public health settings will provide insights to effective implementation of PDA in real-world settings. This study explores perceived factors influencing implementation of an insulin PDA in five public health clinics.

    METHODS: This study adopted a comparative case study design with a qualitative focus to identify similarities and differences of the potential barriers and facilitators to implementing the insulin PDA across different sites. Focus groups and individual interviews were conducted with 28 healthcare providers and 15 patients from five public health clinics under the Ministry of Health in Malaysia. The interviews were transcribed verbatim and analysed using the thematic approach.

    RESULTS: Five themes emerged which were: 1) time constraint; 2) PDA costs; 3) tailoring PDA use to patient profile; 4) patient decisional role; and 5) leadership and staff motivation. Based on the interviews and drawing on observations and interview reflection notes, time constraint emerged as the common prominent factor that cut across all the clinics, however, tailoring PDA use to patient profile; patient decisional role; leadership and staff motivation varied due to the distinct challenges faced by specific clinics. Among clinics from semi-urban areas with more patients from limited education and lower socio-economic status, patients' ability to comprehend the insulin PDA and their tendency to rely on their doctors and family to make health decisions were felt to be a prominent barrier to the insulin PDA implementation. Staff motivation appeared to be stronger in most of the clinics where specific time was allocated to diabetes team to attend to diabetes patients and this was felt could be a potential facilitator, however, a lack of leadership might affect the insulin PDA implementation even though a diabetes team is present.

    CONCLUSIONS: This study found time constraint as a major potential barrier for PDA implementation and effective implementation of the insulin PDA across different public health clinics would depend on leadership and staff motivation and, the need to tailor PDA use to patient profile. To ensure successful implementation, implementers should avoid a 'one size fits all' approach when implementing health innovations.

    Matched MeSH terms: Case-Control Studies
  15. Psychiatric GWAS Consortium Bipolar Disorder Working Group
    Nat Genet, 2011 Sep 18;43(10):977-83.
    PMID: 21926972 DOI: 10.1038/ng.943
    We conducted a combined genome-wide association study (GWAS) of 7,481 individuals with bipolar disorder (cases) and 9,250 controls as part of the Psychiatric GWAS Consortium. Our replication study tested 34 SNPs in 4,496 independent cases with bipolar disorder and 42,422 independent controls and found that 18 of 34 SNPs had P < 0.05, with 31 of 34 SNPs having signals with the same direction of effect (P = 3.8 × 10(-7)). An analysis of all 11,974 bipolar disorder cases and 51,792 controls confirmed genome-wide significant evidence of association for CACNA1C and identified a new intronic variant in ODZ4. We identified a pathway comprised of subunits of calcium channels enriched in bipolar disorder association intervals. Finally, a combined GWAS analysis of schizophrenia and bipolar disorder yielded strong association evidence for SNPs in CACNA1C and in the region of NEK4-ITIH1-ITIH3-ITIH4. Our replication results imply that increasing sample sizes in bipolar disorder will confirm many additional loci.
    Matched MeSH terms: Case-Control Studies
  16. Gopal K, Thevarajah M, Ng CM, Raja J
    Int J Rheum Dis, 2019 May;22(5):834-841.
    PMID: 30729713 DOI: 10.1111/1756-185X.13484
    AIM: Vitamin D3 or 25(OH)D3 may have a potential role in rheumatoid arthritis (RA) pathogenesis by inhibiting the expression of pro-inflammatory cytokines including interleukin-6 (IL-6). The aim of this study is to determine the clinical factors of vitamin D deficiency in multi-ethnic Malaysian RA patients and its association with disease activity, functional disability and serum IL-6 levels.

    METHOD: One hundred RA patients and 50 healthy controls, sex- and age-matched, were recruited. Disease Activity Score of 28 joints and Health Assessment Questionnaire scores were assessed. Baseline serum 25(OH)D3 and IL-6 were measured in all subjects. RA patients who were vitamin D deficient were given loading doses of vitamin D3 and repeated assessments were done.

    RESULTS: Vitamin D deficiency (<50 nmol/L) was found in 63% of RA patients and 76% of healthy controls. Chinese RA patients and healthy controls had significantly more sufficient 25(OH)D3 levels compared to Malays and Indians (P 

    Matched MeSH terms: Case-Control Studies
  17. Jikal M, Riduan T, Aarifin R, Jeffree MS, Ahmed K
    Int J Infect Dis, 2019 Jun;83:83-85.
    PMID: 30986543 DOI: 10.1016/j.ijid.2019.04.008
    OBJECTIVES: In this study we investigated an outbreak of Vibrio cholera O1 Ogawa serotype, occurred during December 2014 in Kudat district, situated in Sabah state of the Malaysian part of Borneo.

    METHODS: Active case detection and contact tracing were done at respective localities by house to house survey. Passive case detection was done among acute gastroenteritis patients attended at various health facilities. To determine the source, samples from food, water and environment were taken. A case control study was also done to determine the risk factors.

    RESULTS: A total of 44 symptomatic and 34 asymptomatic cases from 19 localities were investigated. 39 cases were detected through passive case detection. Median age of cases was 23 years. All cases belonged to serogroup O1 and Ogawa serotype. The epidemiological investigation of time, place, and person identified that V. cholerae cross-transmission might have occurred in two fish markets and the fish-loading port. Circumstantial evidences indicated that cholera was possibly transmitted through contaminated sea foods.

    CONCLUSIONS: We concluded that the life-style of Sea Gypsies is a challenge in cholera control; therefore vaccination might be an effective way to mitigate cholera in an outbreak prone area like Kudat.

    Matched MeSH terms: Case-Control Studies
  18. Lim CH, Zain SM, Reynolds GP, Zain MA, Roffeei SN, Zainal NZ, et al.
    PMID: 24914473 DOI: 10.1016/j.pnpbp.2014.05.017
    Recent studies have shown that bipolar disorder (BPD) and schizophrenia (SZ) share some common genetic risk factors. This study aimed to examine the association between candidate single nucleotide polymorphisms (SNPs) identified from genome-wide association studies (GWAS) and risk of BPD and SZ. A total of 715 patients (244 BPD and 471 SZ) and 593 controls were genotyped using the Sequenom MassARRAY platform. We showed a positive association between LMAN2L (rs6746896) and risk of both BPD and SZ in a pooled population (P-value=0.001 and 0.009, respectively). Following stratification by ethnicity, variants of the ANK3 gene (rs1938516 and rs10994336) were found to be associated with BPD in Malays (P-value=0.001 and 0.006, respectively). Furthermore, an association exists between another variant of LMAN2L (rs2271893) and SZ in the Malay and Indian ethnic groups (P-value=0.003 and 0.002, respectively). Gene-gene interaction analysis revealed a significant interaction between the ANK3 and LMAN2L genes (empirical P=0.0107). Significant differences were shown between patients and controls for two haplotype frequencies of LMAN2L: GA (P=0.015 and P=0.010, for BPD and SZ, respectively) and GG (P=0.013 for BPD). Our study showed a significant association between LMAN2L and risk of both BPD and SZ.
    Matched MeSH terms: Case-Control Studies
  19. Johari SF, Azman M, Mohamed AS, Baki MM
    J Laryngol Otol, 2020 Dec;134(12):1085-1093.
    PMID: 33308327 DOI: 10.1017/S0022215120002558
    OBJECTIVE: To evaluate voice intensity as the primary outcome measurement when treating unilateral vocal fold paralysis patients.

    METHODS: This prospective observational study comprised 34 newly diagnosed unilateral vocal fold paralysis patients undergoing surgical interventions: injection laryngoplasty or medialisation thyroplasty. Voice assessments, including maximum vocal intensity and other acoustic parameters, were performed at baseline and at one and three months post-intervention. Maximum vocal intensity was also repeated within two weeks before any surgical interventions were performed. The results were compared between different time points and between the two intervention groups.

    RESULTS: Maximum vocal intensity showed high internal consistency. Statistically significant improvements were seen in maximum vocal intensity, Voice Handicap Index-10 and other acoustic analyses at one and three months post-intervention. A significant moderate negative correlation was demonstrated between maximum vocal intensity and Voice Handicap Index-10, shimmer and jitter. There were no significant differences in voice outcomes between injection laryngoplasty and medialisation thyroplasty patients at any time point.

    CONCLUSION: Maximum vocal intensity can be applied as a treatment outcome measure in unilateral vocal fold paralysis patients; it can demonstrate the effectiveness of treatment and moderately correlates with self-reported outcome measures.

    Matched MeSH terms: Case-Control Studies
  20. Too CL, Yahya A, Murad S, Dhaliwal JS, Larsson PT, Muhamad NA, et al.
    Arthritis Res Ther, 2012;14(2):R89.
    PMID: 22537824 DOI: 10.1186/ar3813
    INTRODUCTION:Rheumatoid arthritis (RA) is a multifactorial autoimmune disease in which genetic and environmental factors interact in the etiology. In this study, we investigated whether smoking and HLA-DRB1 shared-epitope (SE) alleles interact differently in the development of the two major subgroups of rheumatoid arthritis (RA), anti-citrullinated proteins antibody (ACPA)-positive and ACPA-negative disease, in a multiethnic population of Asian descent.
    METHODS: A case-control study comprising early diagnosed RA cases was carried out in Malaysia between 2005 and 2009. In total, 1,076 cases and 1,612 matched controls participated in the study. High-resolution HLA-DRB1 genotyping was performed for shared-epitope (SE) alleles. All participants answered a questionnaire on a broad range of issues, including smoking habits. The odds ratio (OR) of developing ACPA-positive and ACPA-negative disease was calculated for smoking and the presence of any SE alleles separately. Potential interaction between smoking history (defined as "ever" and "never" smoking) and HLA-DRB1 SE alleles also was calculated.
    RESULTS: In our multiethnic study, both the SE alleles and smoking were associated with an increased risk of developing ACPA-positive RA (OR SE alleles, 4.7; 95% confidence interval (CI), 3.6 to 6.2; OR smoking, 4.1; 95% CI, 1.9 to 9.2). SE-positive smokers had an odds ratio of ACPA-positive RA of 25.6 (95% CI, 10.4 to 63.4), compared with SE-negative never-smokers. The interaction between smoking and SE alleles was significant (attributable proportion due to interaction (AP) was 0.7 (95% CI, 0.5 to 1.0)). The HLA-DRB1*04:05 SE allele, which is common in Asian populations, but not among Caucasians, was associated with an increased risk of ACPA-positive RA, and this allele also showed signs of interaction with smoking (AP, 0.4; 95% CI, -0.1 to 0.9). Neither smoking nor SE alleles nor their combination was associated with an increased risk of ACPA-negative RA.
    CONCLUSIONS: The risk of developing ACPA-positive RA is associated with a strong gene-environment interaction between smoking and HLA-DRB1 SE alleles in a Malaysian multiethnic population of Asian descent. This interaction seems to apply also between smoking and the specific HLA-DRB1*04:05 SE allele, which is common in Asian populations but not in Caucasians.
    Matched MeSH terms: Case-Control Studies
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