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  1. Mahfudzah A, Nazihah MY, Wan Syamimee WG, Huay, Lin T, Wan Rohani WT
    MyJurnal
    Introduction: Solute carrier family 2, member 9 (SLC2A9) is thought to be an important urate transporter that influences the excretion and reabsorption of serum uric acid, thus has a strong effect on serum urate and risk of gout. SLC2A9 polymorphisms have been extensively studied in various populations in association with gout development. Our aim was to test for association of SLC2A9 SNPs with gout in Malay males.
    Methods: 78 gouty patients and 82 normal subjects were recruited and genotyped for rs3733591, rs5028843 and rs11942223 using PCR-RFLP technique. Single association and haplotype association analyses were conducted using SHEsis online software.
    Results: rs3733591 and rs5028843 showed association with gout with p value of 0.020 and 0.036, respectively, whilst rs11942223 yielded no association with p value of 0.08 with trend towards susceptibility projecting by OR=3.547, 3.667 and 2.732, respectively. It is noteworthy that haplotype 1/1/1 conferred protection in gout with p value 0.004 (OR=0.324 [0.147-0.716]).
    Conclusion: This study might suggest an evidence of association of SLC2A9 SNPs with gout among Malay males.
    KEYWORDS: Gout, SLC2A9, Malay males
    Study site: Medical Specialist Clinic at Hospital Universiti Sains Malaysia (HUSM), Kelantan, Malaysia
  2. Wan Rohani WT, Mahfudzah A, Nazihah MY, Tan HL, Wan Syamimee WG, Amanda Jane PG, et al.
    Med J Malaysia, 2018 10;73(5):307-310.
    PMID: 30350810 MyJurnal
    INTRODUCTION: Gout is one of the most common inflammatory arthritis in Malaysia. It is due to persistent hyperuricemia that leads to the formation and deposition of intra- and periarticular monosodium urate crystals either due to excessive production or insufficient excretion of uric acid. Incidence and prevalence of gout is increasing worldwide, with a higher rate among men compared to women. Malay is the largest ethnic group in Malaysia, followed by Chinese and Indian. SLC2A9 is a renal urate transporter that controls renal uric acid excretion and genetic variants in SLC2A9 are associated with the risk of gout in several populations. This study aimed to test if the SLC2A9 variant (R265H, rs3733591) is also associated with gout among Malays in Malaysia.

    METHODOLOGY: A total of 89 patients with gouty arthritis and 100 normal subjects who consented and were recruited in this study. The serum urate and creatinine were measured. The SNP genotyping was performed using PCR-RFLP method for rs3733591 and BST 1236 was used as a restriction enzyme to cut the targeted amplicons.

    RESULT: SLC2A9 variant was associated with gout, p-value of 0.007, OR=4.713 [95%CI 1.530-14.513], however this association was not significant after adjustment for age and gender with p=0.465 (OR=1.950; 95%CI[0.325-11.718]).

    CONCLUSION: Our data suggest that the genetic variant of SLC2A9 may contribute to the susceptibility of gout among Malays in Malaysia.

  3. Syahidatulamali CS, Wan Syamimee WG, Azwany YN, Wong KK, Che Maraina CH
    J Postgrad Med, 2017 9 2;63(4):257-261.
    PMID: 28862243 DOI: 10.4103/jpgm.JPGM_499_16
    BACKGROUND: Systemic lupus erythematosus (SLE) is a systemic autoimmune disease characterized by numerous autoantibodies. In this study, we investigated the presence of anti-chloride intracellular channel 2 (anti-CLIC2) and anti-high mobility group box 1 (anti-HMGB1) autoantibodies in SLE patients (n = 43) versus healthy controls ([HCs] n = 43), and their association with serological parameters (antinuclear antibody [ANA], anti-double-stranded DNA [anti-dsDNA], and C-reactive protein [CRP]) and disease activity using Systemic Lupus Erythematosus Disease Activity Index (SLEDAI) score (active or inactive).

    SETTINGS AND DESIGN: Case-control study at Rheumatology Clinic of Universiti Sains Malaysia Hospital.

    SUBJECTS AND METHODS: The sera of SLE patients and HCs were tested for the presence of anti-CLIC2 and anti-HMGB1 autoantibodies using human recombinant proteins and ELISA methodologies. Other serological parameters were evaluated according to routine procedures, and patients' demographic and clinical data were obtained.

    STATISTICAL ANALYSIS: Mann-Whitney U-test, Chi-square test, Fisher's exact test, and receiver operating characteristic analysis.

    RESULTS: Anti-CLIC2 autoantibody levels were significantly higher in SLE patients compared to HCs (P = 0.0035), whereas anti-HMGB1 autoantibody levels were not significantly elevated (P = 0.7702). Anti-CLIC2 and anti-HMGB1 autoantibody levels were not associated with ANA pattern, anti-dsDNA, and CRP. Interestingly, SLEDAI score (≥6) was associated with anti-CLIC2 (P = 0.0046) and with anti-HMGB1 (P = 0.0091) autoantibody levels.

    CONCLUSION: Our findings support the potential of using anti-CLIC2 autoantibodies as a novel biomarker for SLE patients. Both anti-CLIC2 and anti-HMGB1 autoantibody levels demonstrated potential in monitoring SLE disease activity.

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