A study of association of the complement C4 mutations with systemic lupus erythematosus in the Malaysian population

Puah, Suat Moi; Lh, Lian; Chew, C. H.; Chua, Kek Heng; Sy, Tan

doi:10.1177/0961203307079454

Cited by 21 publications

(18 citation statements)

References 28 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…35 This result has been replicated in Korean, 19 Japanese 36 and Chinese, 37 but also not in Chinese 16 and Malaysian. 38 However, C4A*Q0 is known to be in linkage disequilibrium with HLA-DR3. 39 Most studies of TAP genes have produced negative results in Colombians, Australians and Asians including Japanese and Chinese, 7,[40][41][42][43] but the TAP-2 gene showed a positive result in a Colombian population.…”

Section: Resultsmentioning

confidence: 99%

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

Kim

et al. 2009

Genes Immun

View full text Add to dashboard Cite

There have been many genetic studies of systemic lupus erythematosus (SLE) in Asia, but the status of SLE in Asia remains unclear. Genes that have been associated with SLE in Caucasians have shown both consistent and inconsistent results in Asians. This prompted us to review studies of SLE-associated genes and compare the degree of consistency according to ethnicity in Asia. We searched PubMed and the national databases in Korea and Japan for SLE genetic studies. A total of 755 articles were found and after applying various exclusion criteria, 442 studies including 17 linkage studies, 2 genome-wide association studies and 423 candidate-gene analyses were reviewed. Nine linkage loci were confirmed to be associated with SLE susceptibility in non-Asians, but the risk locus (16q12) has been identified in only one Asian study. A total of 156 candidate genes were analyzed, of which 92 were studied in Asians. Although there were allelic (HLA-DRB1 and IRF5) or genetic heterogeneity (FCGR gene family), HLA-DRB1, the FCGR gene family, IRF5, STAT4 and MECP2 showed consistent associations with SLE susceptibility across ethnicities. In conclusion, genetic associations often vary with ethnicity, requiring validation in different ethnic groups, and hence future SLE genetic studies will require strong worldwide collaborations.

show abstract

Section: Resultsmentioning

confidence: 99%

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

Kim

et al. 2009

Genes Immun

View full text Add to dashboard Cite

show abstract

“…Some of the important target genes such as C4, C1q, CTLA-4, IL-6, IL-1, RANTES-28, and SDF-1 have been studied previously in the Malaysian population (Puah et al, 2007;Chew et al, 2008;Chua et al, 2009aChua et al, ,b, 2010Lian et al, 2011); however, most of them were found to have no major significant association with SLE susceptibility. Hence in this study, we aimed to target and investigate the distribution of the angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) dimorphism and its potential association to the susceptibility of SLE.…”

Section: Introductionmentioning

confidence: 99%

Angiotensin-converting enzyme gene I/D dimorphism does not play a major role in the susceptibility of Malaysian systemic lupus erythematosus patients

Lian¹,

Lau²,

Ching³

et al. 2012

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Systemic lupus erythematosus (SLE) is an autoimmune disease that causes systemic damage, involving auto-reactive antibodies and over-deposition of immune complexes. Susceptibility to SLE is believed to be multifactorial, and genetics is one of the proven etiological factors; it can affect SLE development, severity and prognosis. We investigated a possible association between the angiotensin-converting enzyme gene and susceptibility to SLE in the Malaysian population. PCR was employed for the determination of I/D dimorphism of this gene. The I allele was more frequent than the D allele in both the SLE patients (N = 170) and healthy controls (N = 190). However, there was no significant difference in the distribution of these two alleles between both groups studied (χ 2 = 0.284, P > 0.05). Interestingly, the DD homozygous genotype scored notably higher in the healthy control group (χ 2 = 7.568, P < 0.05), while the ID heterozygote was observed to be significantly associated with SLE (χ 2 = 11.143, P < 0.05). In conclusion, with respect to the Malaysian population, the DD genotype might play a protective role in the development of SLE while in contrast, those who carry the ID genotype might be at potential risk for onset of this disease.

show abstract

“…A conventional DNA extraction method (Puah et al, 2007;Chua et al, 2009b;Chua et al 2011b) was used to isolate the genomic DNA from whole blood samples. All samples were then screened for the Arg702Trp, Gly908Arg, 3020insC, Pro268Ser, and JW1 variants by using the TaqMan SNP Genotyping Assay (Applied Biosystems, USA) as shown in Table 1.…”

Section: Genotyping Of the Nod2/card15 Variantsmentioning

confidence: 99%

NOD2/CARD15 variants in Malaysian patients with sporadic colorectal cancer

Lau¹,

Roslani²,

Lian³

et al. 2014

Genet. Mol. Res.

View full text Add to dashboard Cite

ABSTRACT. Colorectal cancer (CRC) is one of the most common types of cancer in both developed and developing countries. This disease is triggered by and progresses via the sequential accumulation of multiple genetic alterations. In addition, the interaction between lowpenetrance genes and environmental factors can also increase the risk of developing CRC. Since inflammatory bowel diseases (IBDs) are one of the predisposing factors for CRC, IBD-related genes might, to a certain extent, be associated with cancer initiation. The nucleotide oligomerization domain 2/caspase activating recruitment domain 15 gene (NOD2/CARD15) is the most well-established gene to be associated with increased susceptibility to Crohn's disease. Thus, various studies have been performed to investigate the potential contribution of this gene to CRC risk. In this study, we aimed to determine the frequency of the Arg702Trp, Gly908Arg, 3020insC, Pro268Ser, and JW1 variants of NOD2/CARD15, and to investigate their association with CRC susceptibility. A total of 130 CRC patients and 212 healthy controls were recruited for this study. Subsequently, real-time polymerase chain reaction with TaqMan was performed for the genotyping of these NOD2/ CARD15 variants. None of the NOD2/CARD15 variants was statistically associated to CRC susceptibility in our Malaysian population. Our findings were remarkably similar to those of other Asian cohorts, which indicated that these NOD2/CARD15 variants exhibit genetic heterogeneity between Caucasian and Asian populations.

show abstract

A study of association of the complement C4 mutations with systemic lupus erythematosus in the Malaysian population

Cited by 21 publications

References 28 publications

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

Angiotensin-converting enzyme gene I/D dimorphism does not play a major role in the susceptibility of Malaysian systemic lupus erythematosus patients

NOD2/CARD15 variants in Malaysian patients with sporadic colorectal cancer

Contact Info

Product

Resources

About