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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
Haplotype analysis of leptin gene polymorphisms in obesity among Malays in Terengganu, Malaysia population

Wan Rohani WT, Aryati A, Amiratul Athirah S

Med J Malaysia, 2018 10;73(5):281-285.
PMID: 30350805 MyJurnal

INTRODUCTION: The prevalence of overweight and obesity has developed the critical global threat which leads to metabolic risks and mortality. A Leptin hormone that regulates the food intake as well as food expenditure is encoded by Leptin gene. The gene has shown a pivotal role in obesity pathogenesis. This study was sought to determine the SNPs and haplotype association of the Leptin gene that were assigned as G2548A, H1328080, and A19G with obesity among Malays in Terengganu, Malaysia.
METHODOLOGY: This study comprised of 249 participants (148 overweight/ obese as a case group and 101 lean participants as controls). The PCR-RFLP technique was performed to distinguish the genotype distribution of Leptin gene polymorphisms. The allele and genotype frequencies were assessed for single and haplotype analyses.
RESULT: Single association analysis of G2548A (P=0.74), A19G (P=0.38), and H1328080 (P=0.56) polymorphisms yielded no statistically significant association. However, haplotype association analysis showed a suggestive indication of AAG haplotype (G2548A, H1328080, and A19G sequence) with susceptibility effect towards obesity predisposition [P=0.002, OR=8.897 (1.59-9.78)].
CONCLUSION: This data on single and haplotype might disclose the preliminary exposure and pave the way for the obesity development with an evidence of revealed susceptibility to obesity.
Fulltext Disrupted-in-Schizophrenia-1 SNPs and Susceptibility to Schizophrenia: Evidence from Malaysia

Norlelawati AT, Kartini A, Norsidah K, Ramli M, Tariq AR, Wan Rohani WT

Psychiatry Investig, 2015 Jan;12(1):103-11.
PMID: 25670952 DOI: 10.4306/pi.2015.12.1.103

Even though the role of the DICS1 gene as a risk factor for schizophrenia is still unclear, there is substantial evidence from functional and cell biology studies that supports the connection of the gene with schizophrenia. The studies associating the DISC1 gene with schizophrenia in Asian populations are limited to East-Asian populations. Our study examined several DISC1 markers of schizophrenia that were identified in the Caucasian and East-Asian populations in Malaysia and assessed the role of rs2509382, which is located at 11q14.3, the mutual translocation region of the famous DISC1 translocation [t (1; 11) (p42.1; q14.3)].
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.