STUDY TO ESTABLISH GENETIC ASSOCIATION OF CARDIAC CONDUCTION DEFECT IN
INDIAN PATIENTS UNDERGOING PACEMAKER IMPLANTATION
AIMS: To study the genetic association of cardiac conduction defects
(CCD) by evaluating Single nucleotide polymorphism(SNP) in genes of
SCN1B and KCNJ2 and to evaluate baseline characteristics between cases
and controls. METHODS AND RESULTS: Case group consisted of 81
individuals with diagnosis of conduction disturbances who underwent
permanent pacemaker implantation. . The control group consisted of 79
unrelated individuals above 18 years of age of the local population not
having a present or past personal or family history (first degree
relatives) of any cardiac ailment especially cardiac conduction defects.
Isolation of genomic Deoxyribonucleic acid(DNA) from all samples was
done, Genomic DNA was checked to ensure the presence of intact DNA .
SCN1B : SNP rs55742440 have no bearing on the protein except in
producing a splice variant . SNP rs67701503 does not lie in the splice
site region, not having any significance in the regulation of the gene
as well. NetGene2 analysis of SNP rs67486287 negates its presence in the
splice site. KCNJ2 :SNP rs199473653 is leading to a missense amino acid
change resulting in homozygous GG variant found in almost equal
frequency in both groups. SNP rs199473653 gene has not been reported as
a disease-causing mutation. CONCLUSION:The alteration of nucleotide in
SCN1B intron (SNP rs55742440, rs67701503, rs 67486287) between cases and
controls was found to have no odds of affecting the outcome of CCD.
There was no variation or alteration in nucleotide bases of KCNJ2 (SNP
rs786205813, rs199473653) between the groups.