LIFE09200604007 Tabish - Homi Bhabha National Institute
LIFE09200604007 Tabish - Homi Bhabha National Institute
LIFE09200604007 Tabish - Homi Bhabha National Institute
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Results<br />
4.3.4 Genotype Score (G Score)<br />
For quantitatively analysing the genotype, a value of 2, 1 and 0 was allotted to<br />
variant, heterozygous and wildtype forms of each gene polymorphism respectively and<br />
a consolidated Genotype Score or G Score was calculated. For all samples (n=30) value<br />
of total G Score ranged from 10 - 22. A high G Score designated more number of risk<br />
alleles in an individual. Our assumption was that the individuals with a high G Score<br />
might have a higher probability of developing MPN as compared to those with the low<br />
G Score. It is evident from the genotyping data that most of the MPN patients displayed<br />
a high G Score value (≥15) while controls showed a low G Score. Of the total samples,<br />
13/20 MPN patients had a G Score ≥15 (median total G Score) while 7/10 controls had<br />
a G Score A (5‟UTR),<br />
BRCA2-Asn 372 His); MPN risk association signature (SULT1A1-Arg 213 His, hOGG1-<br />
Ser 326 cys, BRCA2-Asn 372 His, mEH-Try 113 His, XRCC1-Arg 280 His); carcinogen<br />
metabolising enzymes genes (GSTT1-Null, GSTM1-Null, GSTP1-Ile 105 Val,<br />
SULT1A1-Arg 213 His, MPO--463G>A (promoter region), NAT2-Ile 114 Thr, NAT2-<br />
Arg 197 Gln, NAT2-Gly 286 Glu, mEH-Tyr 113 His, GPX-Pro 198 Leu); and cell cycle<br />
regulation and apoptosis genes (Fas- -670A>G (enhancer region), p53-Pro 72 Arg, p21-<br />
Ser 31 Arg, CCND1-870A>G).<br />
There was no significant difference between the G Scores of MPN and<br />
controls for carcinogen metabolising enzymes genes and cell cycle regulation and<br />
apoptosis genes subgroups (Fig. 38). However, G Score of DNA repair genes ranged<br />
from 3 - 9 and MPN risk association signature ranged from 0 - 6 and was found to be<br />
significantly higher in MPN group as compared to control group. In case of DNA repair<br />
genes 14/20 MPN patients has a G Score ≥6 (median G Score DNA repair genes) while<br />
8/10 controls had a G Score