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Analysis of the D1S80 locus by amplified fragment length polymorphism technique in the Chinese, Malays and Indians in Singapore

Chuah SY, Tan WF, Yap KH, Tai HE, Chow ST

Forensic Sci Int, 1994 Oct 21;68(3):169-80.
PMID: 7982636

The distributions of the D1S80 alleles and genotypes in the Chinese, Malays and Indians in Singapore were determined by amplified fragment length polymorphism (AMP-FLP) analysis. The distributions of the observed genotypes for the three races conformed to Hardy-Weinberg expectations. The system was applied to 19 families whose paternity had been established by restriction fragment length polymorphism (RFLP) analysis. In all cases, Mendelian inheritance of the alleles at the D1S80 locus could be demonstrated. D1S80 typing on DNA recovered by differential extraction of forensic specimens which included vaginal swabs, urethral swabs and seminal stains yielded consistent results.

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Pharmacogenetics of CYP1A2, novel polymorphisms and haplotypes in three distinct Asian populations

Lim JS, Singh O, Ramasamy RD, Ramasamy S, Subramanian K, Lee EJ, et al.

Drug Metab. Pharmacokinet., 2010;25(6):616-23.
PMID: 20930417

CYP1A2 play an important role in the metabolism of many carcinogens and clinically important drugs. CYP1A2 activity has been found to be influenced by the presence of polymorphic variants which were reported to display wide interethnic variation. This study investigates the frequency distribution and linkage disequilibrium patterns of CYP1A2 genetic polymorphisms, and characterize their haplotype structures in three healthy Asian populations in Singapore (Chinese, Malay, and Indian). The entire CYP1A2 gene was screened in 126 healthy subjects from all three ethnic groups (N=42 each). A total of 25 polymorphisms was identified, of which nine were novel. The polymorphisms, -2467delT and -163C>A were detected at high frequencies in all Asian ethnic groups. Significant interethnic differences were observed in the genotypic frequency distribution of IVS2-99G>A (P<0.01) and 1548C>T (P=0.05) across the three ethnic groups while -163C>A (P=0.02) was found to differ between Chinese and Malays. Haplotype analyses revealed four to six major haplotypes in each ethnic population which accounted for more than 60% of the cumulative haplotype frequencies. Future studies should be done to investigate the functional roles of these haplotypes.

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Fulltext SLC22A1-ABCB1 haplotype profiles predict imatinib pharmacokinetics in Asian patients with chronic myeloid leukemia

Singh O, Chan JY, Lin K, Heng CC, Chowbay B

PLoS One, 2012;7(12):e51771.
PMID: 23272163 DOI: 10.1371/journal.pone.0051771

This study aimed to explore the influence of SLC22A1, PXR, ABCG2, ABCB1 and CYP3A5 3 genetic polymorphisms on imatinib mesylate (IM) pharmacokinetics in Asian patients with chronic myeloid leukemia (CML).

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
8q24 and 17q prostate cancer susceptibility loci in a multiethnic Asian cohort

Chan JY, Li H, Singh O, Mahajan A, Ramasamy S, Subramaniyan K, et al.

Urol Oncol, 2013 Nov;31(8):1553-60.
PMID: 22561070 DOI: 10.1016/j.urolonc.2012.02.009

OBJECTIVES: Recently, several genome-wide association studies have demonstrated a cumulative association of 5 polymorphic variants in chromosomes 8q24 and 17q with prostate cancer (CaP) risk in Caucasians, particularly those harboring aggressive clinicopathologic characteristics. The purpose of this study was to evaluate the influence of these variants on CaP susceptibility in Singaporean Asian men.
MATERIALS AND METHODS: We performed a case-control study in 289 Chinese CaP patients and 412 healthy subjects (144 Chinese, 134 Malays, and 134 Indians), and examined the association of the 5 single nucleotide polymorphisms (SNPs) with CaP.
RESULTS: In the healthy subjects, rs16901979 A-allele frequency was highest amongst Chinese (0.32) compared with Malays (0.13; P < 0.0001) or Indians (0.09; P < 0.0001); rs6983267 G-allele was highest in Indians (0.51) compared with Chinese (0.42; P = 0.041) or Malays (0.43; P = 0.077); whereas rs1859962 G-allele frequency was highest amongst Indians (0.56) compared with Chinese (0.40; P = 0.0002) or Malays (0.38; P < 0.0001). Individuals with the rs4430796 TT genotype were at increased CaP risk in the Chinese via a recessive model (odds ratios (OR) = 1.56, 95% CI = 1.04-2.33). Significant associations were observed for rs4430796 TT with Gleason scores of ≥ 7 (OR = 1.76, 95% CI = 1.14-2.73) and prostate-specific antigen (PSA) levels of ≥ 10 ng/ml at diagnosis (OR = 1.63, 95% CI = 1.01-2.63), as well as for rs6983267 GG with stage 3-4 CaPs (OR = 1.91, 95% CI = 1.01-3.61). A cumulative gene interaction influence on disease risk, which approximately doubled for individuals with at least 2 susceptibility genotypes, was also identified (OR = 2.18, 95% CI = 1.10-4.32).
CONCLUSIONS: This exploratory analysis suggests that the 5 genetic variants previously described may contribute to prostate cancer risk in Singaporean men.
KEYWORDS: Cancer; Ethnicity; Gleason; Pharmacogenetics; Polymorphism; Prostate

Matched MeSH terms: Asian Continental Ancestry Group/genetics
EGFR Intron 1 polymorphism in Asian Populations and its correlation with EGFR gene expression and amplification in breast tumor tissues

Zhou Q, Cheung YB, Jada SR, Lim WT, Kuo WL, Gray JW, et al.

Cancer Biol Ther, 2006 Nov;5(11):1445-9.
PMID: 17102595

AIM: The purpose of this study was to test the hypothesis if longer CA dinucleotide repeats are more common in the Asian population and also to gain insights into the interplay between the CA dinucleotide repeats and the frequencies of EGFR gene expression and amplifications as this might have therapeutic implications with regards to treatment with tyrosine kinase inhibitors.
MATERIALS AND METHODS: The EGFR intron 1 polymorphism was analysed in three distinct healthy Asian subjects, namely, Chinese (N = 96), Malays (N = 98) and Indians (N = 100). Comparative genomic hybridisation was performed to investigate for changes in DNA copy number in relation to the polymorphic CA dinucleotide repeats in breast tumor tissues (N = 22).
RESULTS: The frequency of short alleles with 14 and 15 CA repeats were most common in the Asian populations and significantly higher than those reported for Caucasians. The frequency of 20 CA repeats was 5%, almost 13-fold lower than previous reports. EGFR amplifications were detected in 23% and 11% of breast tumor tissues harboring short and long CA repeats, respectively.
CONCLUSION: Our results show that the frequency of alleles encoding for short CA dinucleotide repeats is common in Asian populations. EGFR expression and amplification levels were also higher in Asian breast tumor tissues with short CA dinucleotide repeats. These findings suggest that the EGFR intron 1 polymorphism may influence response to treatment with tyrosine kinase inhibitors in breast cancer patients and further studies are warranted.

Matched MeSH terms: Asian Continental Ancestry Group/genetics
Fulltext NOD2/CARD15 variants in Malaysian patients with sporadic colorectal cancer

Lau TP, Roslani AC, Lian LH, Lee PC, Hilmi I, Goh KL, et al.

Genet. Mol. Res., 2014;13(3):7079-85.
PMID: 24682985 DOI: 10.4238/2014.March.19.3

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 low-penetrance 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.

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Fulltext Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia

Lee PC, Lam HH, Ghani SA, Subrayan V, Chua KH

Genet. Mol. Res., 2014;13(2):3553-9.
PMID: 24737507 DOI: 10.4238/2014.March.24.15

Mutations in the PAX6 gene that cause aniridia have been identified in various ethnicities but not in the Malaysian population. Therefore, the objective of this study was to investigate the PAX6 mutation in a Malaysian family with congenital aniridia. In this study, a complete ophthalmic examination was performed on a Dusun ethnic family with aniridia. Genomic DNA was extracted from the peripheral blood of the subjects and screened for the PAX6 gene mutation using polymerase chain reaction amplification high-resolution melting curve analysis (PCR-HRM) followed by confirmation via direct DNA sequencing. A heterozygous G deletion (c.857delG) in exon 7 causing a frame shift in PAX6 was identified in all affected family members. Genotype-phenotype correlation analysis revealed congenital cataract and all affected family members showed a similar spectrum of aniridia with no phenotypic variability but with differences in severity that were age-dependent. In summary, by using a PCR-HRM approach, this study is the first to report a PAX6 mutation in a Malaysian family. This mutation is the cause of the aniridia spectra observed in this family and of congenital cataract.

Matched MeSH terms: Asian Continental Ancestry Group/genetics
Fulltext Lack of association between Gly82Ser, 1704G/T and 2184A/G of RAGE gene polymorphisms and retinopathy susceptibility in Malaysian diabetic patients

Ng ZX, Kuppusamy UR, Poh R, Tajunisah I, Koay AC, Fong KC, et al.

Genet. Mol. Res., 2012 Mar 01;11(1):455-61.
PMID: 22427038 DOI: 10.4238/2012.March.1.2

Diabetic retinopathy is the most common diabetic eye disease, occurring in about 60% of type 2 diabetic patients. Other than known clinical risk factors, the influence of genes has been suggested as part of the development of diabetic retinopathy. We investigated the association of Gly82Ser, 1704G/T and 2184A/G polymorphisms in the RAGE gene with retinopathy in type 2 diabetic patients in Malaysia. Ninety-eight unrelated retinopathy patients and 185 unrelated healthy controls from all over Malaysia were recruited in this study. The allele and genotype frequencies of the three gene polymorphisms were investigated using PCR-RFLP. The allele frequency of the three polymorphisms did not differ significantly between the control and the retinopathy group (P > 0.05). Analysis of the frequency of GA+AA, GT+TT and AG+GG in the retinopathy group did not reveal significant differences (P > 0.05) compared to the control group. We conclude that RAGE gene Gly82Ser, 1704G/T and 2184A/G polymorphisms are not associated with retinopathy development in the Malaysian population.

Matched MeSH terms: Asian Continental Ancestry Group/genetics
Fulltext Lack of association between RANTES-28, SDF-1 gene polymorphisms and systemic lupus erythematosus in the Malaysian population

Lian LH, Kee BP, Ng HL, Chua KH

Genet. Mol. Res., 2011;10(4):2841-50.
PMID: 22095608 DOI: 10.4238/2011.November.17.2

Regulated on activation, normal T-cell expressed and secreted (RANTES) and stromal cell-derived factor 1 (SDF-1) are members of the CC- and CXC-chemokine families, respectively. Both genes have been postulated to be involved in the pathogenesis of systemic lupus erythematosus (SLE). We analyzed position 28 of the RANTES gene promoter region, as well as the SNP observed in the 3' UTR of the SDF-1 gene at position 801, in 130 patients presenting SLE at the Malaya University Medical Centre. Screening of 130 healthy volunteer controls using RFLP was also performed. RANTES-28 polymorphism analysis showed no significant (P = 0.3520) relationship, even though homozygous C/C was more frequent in SLE patients (OR = 1.4183) and heterozygous C/G was more frequent in healthy controls (OR = 0.7051). There were no significant (P = 0.2650) associations between A/A (OR = 0.783), G/G (OR = 1.5914) and G/A (OR = 0.8289) genotypes in the SDF-1 gene polymorphism with SLE. We conclude that there is no significant association of RANTES-28 and SDF-1 gene polymorphisms and occurrence of SLE in Malaysia.

Matched MeSH terms: Asian Continental Ancestry Group/genetics
Complement components 2 and 7 (C2 and C7) gene polymorphisms are not major risk factors for SLE susceptibility in the Malaysian population

Lian LH, Ching AS, Chong ZY, Chua KH

Rheumatol Int, 2012 Nov;32(11):3665-8.
PMID: 21881993 DOI: 10.1007/s00296-011-2070-0

There have been numerous studies linking complement components and the pathogenesis of systemic lupus erythematosus (SLE). This is due to their numerous roles in modulating immune responses in the human body. This study examined the association of C2 and C7 genetic polymorphisms with the susceptibility to SLE based on two separate cohorts of patient and control samples from Malaysia. The 28-bp deletion in the C2 exon-intron junction and single nucleotide polymorphism in the 3'untranslated region in the C7 genes were detected based on direct polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism, respectively. A total of 150 patient and 150 healthy control samples were screened, but there was no association detected between either genes. All individuals presented with null deletion in C2 genes, while the C allele and CC genotypes were most commonly scored. These overall results suggest a lack of strong association with the C2 and C7 gene polymorphisms to the susceptibility of SLE in the Malaysian population.

Matched MeSH terms: Asian Continental Ancestry Group/genetics
Fulltext Lack of association between TYK2 and STAT3 genes and Crohn's disease in the Malaysian population

Lian LH, Lau TP, Lee VL, Lee WS, Hilmi I, Goh KL, et al.

Genet. Mol. Res., 2013;12(1):167-74.
PMID: 23408403 DOI: 10.4238/2013.January.24.9

This study aimed to investigate the potential association of TYK2 and STAT3 genes with the susceptibility to Crohn's disease (CD) among Malaysians. DNA samples were obtained from 80 CD patients and 100 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism methods were employed for genotyping, followed by statistical analysis. In our current study, none of the single nucleotide polymorphisms of either TYK2 or STAT3 was statistically associated with the susceptibility to CD in our local population (P > 0.05). In contrast, there was a statistically significant association between the G/G homozygotes of the STAT3 rs2293152 and the healthy control group (χ(2) = 6.229, P < 0.05). In conclusion, our study does not support the role of the TYK2 and STAT3 genes influencing CD susceptibility.

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Fulltext 2245G/A polymorphism of the receptor for advanced glycation end-products (RAGE) gene is associated with diabetic retinopathy in the Malaysian population

Ng ZX, Kuppusamy UR, Tajunisah I, Fong KC, Koay AC, Chua KH

Br J Ophthalmol, 2012 Feb;96(2):289-92.
PMID: 22116960 DOI: 10.1136/bjophthalmol-2011-300658

The receptor for advanced glycation end-products (RAGE) has been implicated in the pathogenesis of diabetic microvascular complications. The aim of this study was to investigate the association between 2245G/A gene polymorphism of the RAGE gene and retinopathy in Malaysian type 2 diabetic patients.

Matched MeSH terms: Asian Continental Ancestry Group/genetics
Fulltext Positive selection in Europeans and East-Asians at the ABCA12 gene

Sirica R, Buonaiuto M, Petrella V, Sticco L, Tramontano D, Antonini D, et al.

Sci Rep, 2019 03 19;9(1):4843.
PMID: 30890716 DOI: 10.1038/s41598-019-40360-9

Natural selection acts on genetic variants by increasing the frequency of alleles responsible for a cellular function that is favorable in a certain environment. In a previous genome-wide scan for positive selection in contemporary humans, we identified a signal of positive selection in European and Asians at the genetic variant rs10180970. The variant is located in the second intron of the ABCA12 gene, which is implicated in the lipid barrier formation and down-regulated by UVB radiation. We studied the signal of selection in the genomic region surrounding rs10180970 in a larger dataset that includes DNA sequences from ancient samples. We also investigated the functional consequences of gene expression of the alleles of rs10180970 and another genetic variant in its proximity in healthy volunteers exposed to similar UV radiation. We confirmed the selection signal and refine its location that extends over 35 kb and includes the first intron, the first two exons and the transcription starting site of ABCA12. We found no obvious effect of rs10180970 alleles on ABCA12 gene expression. We reconstructed the trajectory of the T allele over the last 80,000 years to discover that it was specific to H. sapiens and present in non-Africans 45,000 years ago.

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Fulltext Glucose-6-phosphate dehydrogenase deficiency: molecular heterogeneity in southeast Asian countries

Matsuo M, Nishiyama K, Shirakawa T, Padilla CD, San LP, Suryantoro P, et al.

Southeast Asian J. Trop. Med. Public Health, 2003;34 Suppl 3:127-9.
PMID: 15906715

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is common in malaria endemic regions and is estimated to affect more than 400 million people worldwide. Deficient subjects are mostly asymptomatic but clinical manifestations range from neonatal jaundice due to acute hemolytic anemia to chronic non-spherocytic hemolytic anemia. To date, biochemical parameters allowed more than 400 different G6PD variants to be distinguished thereby suggesting a vast genetic heterogeneity. So far, only a small portion of this heterogeneity has been confirmed at the DNA level with the identification of about 90 different point mutations in the G6PD coding sequence. To determine the molecular background of G6PD deficiency in Southeast Asian countries, we conducted molecular analyses of G6PD patients from the Philippines, Malaysia, Singapore, Vietnam and Indonesia. The most prevalent mutation identified differs from country to country, thus suggesting independent mutational events of the G6PD gene.

Matched MeSH terms: Asian Continental Ancestry Group/genetics
The paradox of low body mass index and high body fat percentage among Chinese, Malays and Indians in Singapore

Deurenberg-Yap M, Schmidt G, van Staveren WA, Deurenberg P

Int. J. Obes. Relat. Metab. Disord., 2000 Aug;24(8):1011-7.
PMID: 10951540

OBJECTIVE: To study the relationship between body fat percentage and body mass index (BMI) in three different ethnic groups in Singapore (Chinese, Malays and Indians) in order to evaluate the validity of the BMI cut-off points for obesity.
DESIGN: Cross-sectional study.
SUBJECTS: Two-hundred and ninety-one subjects, purposively selected to ensure adequate representation of range of age and BMI of the general adult population, with almost equal numbers from each ethnic and gender group.
MEASUREMENTS: Body weight, body height, sitting height, wrist and femoral widths, skinfold thicknesses, total body water by deuterium oxide dilution, densitometry with Bodpod(R) and bone mineral content with Hologic(R) QDR-4500. Body fat percentage was calculated using a four-compartment model.
RESULTS: Compared with body fat percentage (BF%) obtained using the reference method, BF% for the Singaporean Chinese, Malays and Indians were under-predicted by BMI, sex and age when an equation developed in a Caucasian population was used. The mean prediction error ranged from 2.7% to 5.6% body fat. The BMI/BF% relationship was also different among the three Singaporean groups, with Indians having the highest BF% and Chinese the lowest for the same BMI. These differences could be ascribed to differences in body build. It was also found that for the same amount of body fat as Caucasians who have a body mass index (BMI) of 30 kg/m2 (cut-off for obesity as defined by WHO), the BMI cut-off points for obesity would have to be about 27 kg/m2 for Chinese and Malays and 26 kg/m2 for Indians.
CONCLUSIONS: The results show that the relationship between BF% and BMI is different between Singaporeans and Caucasians and also among the three ethnic groups in Singapore. If obesity is regarded as an excess of body fat and not as an excess of weight (increased BMI), the cut-off points for obesity in Singapore based on the BMI would need to be lowered. This would have immense public health implications in terms of policy related to obesity prevention and management.

Matched MeSH terms: Asian Continental Ancestry Group/genetics
Fulltext Molecular characterization of two Malaysian patients with Wiskott-Aldrich syndrome

Baharin MF, Kader Ibrahim SB, Yap SH, Abdul Manaf AM, Mat Ripen A, Dhaliwal JS

Malays J Pathol, 2015 Aug;37(2):153-8.
PMID: 26277674 MyJurnal

The Wiskott-Aldrich Syndrome (WAS) is an X-linked immunodeficiency condition characterized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott-Aldrich Syndrome protein (WASP) gene. We investigated two Malay boys who presented with congenital thrombocytopenia, eczema and recurrent infections. Here we report two cases of WASP mutation in Malaysia from two unrelated families. One had a novel missense mutation in exon 1 while the other had a nonsense mutation in exon 2. Both patients succumbed to diseaserelated complications. A differential diagnosis of WAS should be considered in any male child who present with early onset thrombocytopenia, especially when this is associated with eczema and recurrent infections.

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Fulltext Association analysis identifies 65 new breast cancer risk loci

Michailidou K, Lindström S, Dennis J, Beesley J, Hui S, Kar S, et al.

Nature, 2017 Nov 02;551(7678):92-94.
PMID: 29059683 DOI: 10.1038/nature24284

Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P

Matched MeSH terms: Asian Continental Ancestry Group/genetics
Distribution of cytokine gene polymorphisms in five Malay subethnic groups in Peninsular Malaysia

Norhalifah HK, Zafarina Z, Sundararajulu P, Norazmi MN, Edinur HA

Int. J. Immunogenet., 2015 Jun;42(3):200-3.
PMID: 25809422 DOI: 10.1111/iji.12189

In this survey, we have successfully genotyped 22 single nucleotide polymorphisms in the 13 cytokine genes for five Malay subethnic groups (Kelantan, Acheh, Mandailing, Minangkabau and Patani Malays) using polymerase chain reaction-sequence-specific primer cytokine genotyping kit (Invitrogen, Carlsbad, CA, USA). Most of the cytokine genes showed similar pattern of allelic spectra with wild-type alleles (e.g. ILIa-889/C, ILIB+3962/C and IL6 nt565/G) that represent more than 80% in the studied Malay subethnic groups. These newly observed cytokine alleles and subsequent analyses clearly indicate genetic contribution from Asia in the studied Malay subethnic groups with evidence of admixture from neighbouring populations in Patani Malays. The cytokine data sets for the five Malay subethnic groups deposited in this report can also be used as reference standard for searching suitable donor for allograft transplant and diseases association study. This is particularly relevance as our analyses showed differences between the Malay subethnic groups and other populations screened for cytokine genes.

Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Fulltext Human Platelet Antigen Datasets for Malays, Chinese, and Indians in Peninsular Malaysia

Hajar CGN, Zefarina Z, Md Riffin NS, Mohammad THT, Hassan MN, Dafalla AM, et al.

Ann Lab Med, 2020 11;40(6):493-499.
PMID: 32539307 DOI: 10.3343/alm.2020.40.6.493
Matched MeSH terms: Asian Continental Ancestry Group/genetics*
Fulltext Novel Association of WNK4 Gene, Ala589Ser Polymorphism in Essential Hypertension, and Type 2 Diabetes Mellitus in Malaysia

Ghodsian N, Ismail P, Ahmadloo S, Heidari F, Haghvirdizadeh P, Ataollahi Eshkoor S, et al.

J Diabetes Res, 2016;2016:8219543.
PMID: 27314050 DOI: 10.1155/2016/8219543

With-no-lysine (K) Kinase-4 (WNK4) consisted of unique serine and threonine protein kinases, genetically associated with an autosomal dominant form of hypertension. Argumentative consequences have lately arisen on the association of specific single nucleotide polymorphisms of WNK4 gene and essential hypertension (EHT). The aim of this study was to determine the association of Ala589Ser polymorphism of WNK4 gene with essential hypertensive patients in Malaysia. WNK4 gene polymorphism was specified utilizing mutagenically separated polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) method in 320 subjects including 163 cases and 157 controls. Close relation between Ala589Ser polymorphism and elevated systolic and diastolic blood pressure (SBP and DBP) was recognized. Sociodemographic factors including body mass index (BMI), age, the level of fasting blood sugar (FBS), low density lipoprotein (LDL), and triglyceride (TG) in the cases and healthy subjects exhibited strong differences (p < 0.05). The distribution of allele frequency and genotype of WNK4 gene Ala589Ser polymorphism showed significant differences (p < 0.05) between EHT subjects with or without type 2 diabetes mellitus (T2DM) and normotensive subjects, statistically. The WNK4 gene variation influences significantly blood pressure increase. Ala589Ser probably has effects on the enzymic activity leading to enhanced predisposition to the disorder.

Matched MeSH terms: Asian Continental Ancestry Group/genetics

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