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Fulltext Suggestive evidence of SIc2a9 polymorphisms association in gouty malay males

Mahfudzah A, Nazihah MY, Wan Syamimee WG, Huay, Lin T, Wan Rohani WT

International Medical Journal Malaysia, 2015;14(2):35-40.
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
Association of solute carrier family 2, member 9 (SLC2A9) genetic variant rs3733591 with gout in a Malay sample set

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.
Fulltext Hyperdiploid Multiple Myeloma with Novel Complex Structural Chromosome Abnormalities Associated with Poor Prognosis : A Rare Case Report

Ankathil R, Foong E, Siti-Mariam I, Norhidayah R, Nazihah MY, Sangeetha V, et al.

Int J Hematol Oncol Stem Cell Res, 2021 Jul 01;15(3):199-205.
PMID: 35083001 DOI: 10.18502/ijhoscr.v15i3.6852

Hyperdiploid multiple myeloma (MM) is associated with better prognosis and non-hyperdiploid subtype is associated with variable to adverse prognosis based on the nature of karyotype abnormality. Rarely exceptions to this hyperdiploid and non-hyperdiploid divisions do exist in a minority. We report an adult male MM patient who showed hyperdiploid karyotype with few novel complex abnormalities and who showed poor clinical outcome. Conventional cytogenetic analysis carried out in 22 GTG banded metaphases showed 53,Y,der(X)t(X;22)(q27;q11.2),+3,+5,+6,+9,+11,+15,der(17)ins(17;1;3)(q11.2;?;?),der(17)ins(17;1;3)(q11.2;?;?),+19,-22,+mar karyotype pattern in 15 metaphases whereas 7 metaphases showed 46,XY karyotype pattern. Interphase FISH revealed biallelic del(13q14) and del(17p13) but no translocations involving the 14q32 region. Through Spectral karyotyping FISH, the origin of complex abnormalities involving der(17) chromosome, translocation t(X;22), and marker chromosome could be clearly delineated. Although the present case showed hyperdiploid karyotype, he showed an adverse prognosis probably due to the co-existence of high risk and complex abnormalities and expired 5 months after initial diagnosis despite standard treatment given.

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