Common variants of Cholesteryl ester transfer protein gene and their association with lipid parameters in healthy volunteers of Tamilian population

Padmaja, N.; Kumar, Mahendra; Soya, S.S.; Adithan, C

doi:10.1016/j.cca.2006.06.031

Cited by 29 publications

(13 citation statements)

References 34 publications

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“…In the LIPC promoter polymorphism C-514T, the minor allele frequency in our control was lower than the Chinese and Malays from Singapore, similar to the Indians in Singapore [23] and African-Americans [24] but higher than white Americans [15]. The wild type A allele of I405V (A?G) polymorphism in our study was slightly lower than the earlier reports from Southern parts of India [19] but significantly lower as compared to African-Americans and Asians and significantly higher than the Caucasians [25]. However, on comparison with other Asian studies than the above the minor allele frequency was found to be almost similar to the Japanese [7], but lower than the Chinese [26].…”

Section: Discussioncontrasting

confidence: 49%

“…However, on comparison with other Asian studies than the above the minor allele frequency was found to be almost similar to the Japanese [7], but lower than the Chinese [26]. Similarly, the -629A allele was found to be significantly lower than the earlier published reports from Southern India [19] and the African-Americans but slightly lower than the Caucasians [25]. Also, the A allele of C-629A polymorphism associated with elevated HDL-C levels in our study is lower than the Scottish [27] and the Netherland population [11].…”

Section: Discussionsupporting

confidence: 44%

“…Genetic evidence from our earlier studies has highlighted the role of various gene polymorphisms in CAD and its risk factors [16][17][18]. There have been similar studies from Southern parts of India in the Tamilian population where polymorphisms (-629C/T and I405V) in the CETP gene have been evaluated among the general and CAD population [19,20]. The overall goal of this research was to study the influence of LIPC, and CETP gene polymorphism on HDL and LDL subfractions in both healthy and CAD subjects.…”

Section: Discussionmentioning

confidence: 81%

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Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study

Todur

Ashavaid

2012

Ind J Clin Biochem

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There is an increasing interest to understand the molecular basis of high-density lipoprotein cholesterol (HDL-C) and low-density lipoprotein cholesterol (LDL-C) subfractions and their association with coronary artery disease (CAD). The formation of these subfractions is greatly influenced by hepatic lipase (HL) and cholesteryl ester transfer protein (CETP) enzymes. To identify genetic markers influencing LDL and HDL subfractions and their role in CAD we performed a case-control genetic association study on 117 healthy controls and 119 angiographically verified CAD patients. Biochemical analysis was performed using standard assays. HDL-C and LDL-C subfractions were estimated using precipitation methods. Genotyping of C-514T (rs1800588) in the LIPC gene for HL and I405V (rs5882) in the CETP gene was done using PCR-based restriction enzyme analysis and sequencing. Both the polymorphisms were not associated with CAD. The C-514T was associated with increased HDL 3 -C levels in controls (P = 0.049). The I405V polymorphism was found to be associated with low levels of small dense, LDL (P = 0.038). A multiple regression analysis showed that the effects were dependent on gender and triglyceride levels. We conclude that these polymorphisms are not associated with CAD but are important determinants of HDL-C and small dense LDL particles in our population.

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Section: Discussioncontrasting

confidence: 49%

Section: Discussionsupporting

confidence: 44%

Section: Discussionmentioning

confidence: 81%

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Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study

Todur

Ashavaid

2012

Ind J Clin Biochem

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“…Genotyping of the CETP gene polymorphisms: -629C=A (Eiriksdottir et al, 2001), TaqIB (Padmaja et al, 2007), and 405I=V (Wu et al, 2001); APOAI gene polymorphisms: -2500C=T (Masana et al, 2001), PstI (Masana et al, 2001), and -75G=A (Dallinga-Thie et al, 1996); CYP7A1 gene polymorphisms: -278A=C (Wang et al, 1998) and -204A=C (Couture et al, 1999); CYP3A4 gene polymorphisms: -290A=G (Cavalli et al, 2001) and F189S (Lee et al, 2005); ABCB1: 3435C=T (Tanabe et al, 2001), G2677T=A (Tanabe et al, 2001), and -41A=G (Tanabe et al, 2001) were performed by polymerase chain reactionrestriction fragment length polymorphism assays. The genotyping of HMGCR gene polymorphisms (rs5908A=G, rs12916C=T, and SNP29G=T) and CYP7A1 rs8192871A=G was carried out by allelic discrimination assays using Taqman technology (Applied Biosystems).…”

Section: Genotypingmentioning

confidence: 99%

Common Variants ofHMGCR, CETP, APOAI, ABCB1, CYP3A4, andCYP7A1Genes as Predictors of Lipid-Lowering Response to Atorvastatin Therapy

Poduri

Khullar

Bahl

et al. 2010

DNA and Cell Biology

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There is interindividual variation in lipid-lowering response to statins. The objective of this study was to investigate whether common variation in genes involved in lipid and statin metabolism modify the effect of statins on serum total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C), and high-density lipoprotein-cholesterol concentration in coronary artery disease (CAD) patients. We studied the association between 18 single-nucleotide polymorphisms (SNPs) in six genes (HMGCR, CETP, APOAI, ABCB1, CYP3A4, CYP7A1) in response to atorvastatin therapy (20 mg/day) in 265 newly diagnosed CAD patients using multivariable adjusted general linear regression. Variant alleles of ABCB1 (-41A/G), HMGCR SNP29 G/T, rs5908A/G, rs12916C/T, and CYP7A1-204A/C polymorphisms were significantly associated with attenuated LDL-C reduction and variant alleles of CETP TaqI, -629C/A, and APOAI PstI polymorphisms were associated with higher increase in high-density lipoprotein-cholesterol. A three-loci interaction model consisting of CYP7A1rs892871AA/APOAIPstIP1P1/HMGCR rs12916CT was a better predictor for LDL-C lowering, when compared with single polymorphisms analysis on statin response. Variant genotypes of APOAI -2500C/T, CETP 405I/V, and ABCB1 3435C/T showed higher risk of myocardial infarction events (p < 0.05) in a 1-year follow-up of CAD patients. These results suggest that SNPs in lipid and statin pathway genes are associated with reduced LDL-C lowering by statins and identify individuals who may be resistant to maximal LDL-C lowering by statins.

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“…The frequency distribution of SNPs in other population cannot be used for planning studies in Indian population due to their unique genetic constitution. 5 In earlier studies, the frequencies of genetic polymorphisms of genes involved in lipid and statin pathways such as ApoA, ApoB, 6 CETP, 7 ABCB1, 8,9 and CYP3A5 10 have been established among healthy South Indian Tamil population in our laboratory. For the current study, SNPs were selected based on their role in statin and cholesterol metabolism.…”

Section: Introductionmentioning

confidence: 99%

Frequencies of Genetic Polymorphisms of the Cholesterol and Statin Metabolic Pathway Genes among Healthy South Indian Tamil Population

Indumathi¹,

Kumar²,

Chandrasekaran³

et al. 2017

JYP

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Background: Indians are genetically predisposed to Coronary Artery Disease (CAD), hence it is worth studying the effect of genetic polymorphisms which affect CAD development including Low-Density Lipoprotein Cholesterol (LDL-C) in our population. Studies have found that there is a considerable variation in the genetic makeup of Indians with distinct genetic groups hav ing been identified-one such being Dravidian Tamil population. Aim:We aimed to determine the distribution of allele and genotype frequencies of genes associated with LDL-C lipid levels as well as those associated with statin metabolic pathway in 100 healthy South Indian Tamil volunteers. Results:The minor allele frequencies (MAFs) of the genetic polymorphisms of HMGCR rs5908, rs17238540 and rs12916 were 0.5, 3.5 and 41% respectively. The MAF of LDLR rs688, CYP7A1 rs3808607, ABCB1 rs1128503, SLCO1B1 rs4149056 were 26, 42, 41.5 and 7% respectively. The frequencies of the genetic polymorphisms studied show considerable variation from other Indian ethnic groups in 5 out of the 7 genetic poly-

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Common variants of Cholesteryl ester transfer protein gene and their association with lipid parameters in healthy volunteers of Tamilian population

Cited by 29 publications

References 34 publications

Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study

Association of CETP and LIPC Gene Polymorphisms with HDL and LDL Sub-fraction Levels in a Group of Indian Subjects: A Cross-Sectional Study

Common Variants ofHMGCR, CETP, APOAI, ABCB1, CYP3A4, andCYP7A1Genes as Predictors of Lipid-Lowering Response to Atorvastatin Therapy

Frequencies of Genetic Polymorphisms of the Cholesterol and Statin Metabolic Pathway Genes among Healthy South Indian Tamil Population

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