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PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2008-5-1
pubmed:abstractText
Inflammation plays a major role in coronary artery disease (CAD). We investigated the polymorphisms in the interleukin 6 (IL6) gene and their effect on the expression of acute-phase proteins in premature CAD in Asian Indian families. One hundred and ninety affected sibling pairs (ASPs) were genotyped for three tag single nucleotide polymorphisms (SNPs) in the IL6 gene for linkage analysis. We observed suggestive logarithm of odds (LOD) score for one SNP (rs2066992) in a subset of 62 ASPs with the age at onset less than 45 years (LOD score=1.114, p=0.011 in linkage analysis; pi=0.55, p=0.008 in identity by descent; LOD score=1.06, p=0.014 in quantitative trait locus for plasma levels of high sensitivity C-reactive protein, hsCRP). This was followed by sequencing of the promoter region and haplotype analysis in 46 probands and 40 controls. Five out of the eight previously reported promoter SNPs were found to be polymorphic (rs1800797, rs1800796, rs7802307, rs7802308, rs1800795). Two novel sequence variants were also found. One promoter haplotype (GGAAG) was detected with an odds ratio (OR) of 3.676 (p=0.0017, 95% confidence interval [CI]: 1.68-8.045) and population attributable risk of 21.1% (95%CI: 9.2%-31.5%). The plasma levels of both hsCRP and fibrinogen exhibited significant association with these promoter SNP genotypes (p<0.001). In conclusion, IL6 gene polymorphisms appear to be important genetic factors in premature CAD, and in the regulation of key atherogenic markers in Asian Indian families.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0340-6245
pubmed:author
pubmed:issnType
Print
pubmed:volume
99
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
944-50
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:18449426-Adult, pubmed-meshheading:18449426-Age of Onset, pubmed-meshheading:18449426-Aged, pubmed-meshheading:18449426-Asian Continental Ancestry Group, pubmed-meshheading:18449426-C-Reactive Protein, pubmed-meshheading:18449426-Case-Control Studies, pubmed-meshheading:18449426-Coronary Artery Disease, pubmed-meshheading:18449426-DNA Mutational Analysis, pubmed-meshheading:18449426-Female, pubmed-meshheading:18449426-Fibrinogen, pubmed-meshheading:18449426-Genetic Linkage, pubmed-meshheading:18449426-Genetic Predisposition to Disease, pubmed-meshheading:18449426-Haplotypes, pubmed-meshheading:18449426-Humans, pubmed-meshheading:18449426-India, pubmed-meshheading:18449426-Interleukin-6, pubmed-meshheading:18449426-Lod Score, pubmed-meshheading:18449426-Male, pubmed-meshheading:18449426-Middle Aged, pubmed-meshheading:18449426-Odds Ratio, pubmed-meshheading:18449426-Pedigree, pubmed-meshheading:18449426-Phenotype, pubmed-meshheading:18449426-Polymorphism, Single Nucleotide, pubmed-meshheading:18449426-Promoter Regions, Genetic, pubmed-meshheading:18449426-Quantitative Trait Loci, pubmed-meshheading:18449426-Risk Assessment, pubmed-meshheading:18449426-Risk Factors
pubmed:year
2008
pubmed:articleTitle
Polymorphisms in the IL6 gene in Asian Indian families with premature coronary artery disease--the Indian Atherosclerosis Research Study.
pubmed:affiliation
Mary & Garry Weston Functional Genomics Unit, Thrombosis Research Institute, Narayana Hrudayalaya Hospital, 258/A Bommasandra Industrial Area, Anekal Taluk, Bangalore 560099, India. arindam@triindia.org.in
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't, Multicenter Study