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Table 1 Table 3
Genotype distribution and allele frequency of L858R variant Statistical analysis: chi square and odds ratio tests
Group Genotype Individuals Percent Genotypic Allelic L858R L/L L/R R/R Chi square OR
frequency frequency Affected 63% 6% 31% 22.4 a
5.9 95%
Affected L/L 50 63 0.63 0.66 CI Z 2.7e13.1
(n Z 80) L/R 5 6 0.06 Control 91% 1% 8% P ! 0.001 P ! 0.001
R/R 25 31 0.31 0.34 G719S G/G G/S S/S c2 OR
Control L/L 99 91 0.91 0.91 Affected 91% 3% 6% 2.2b 2.5 95%
(n Z 109) L/R 1 1 0.01 CI Z 0.71e8.9
R/R 9 8 0.08 0.09 Control 96% 1% 3% P O 0.05 P O 0.05
a
Significant.
b
Not Significant.
LC. The OR test establishes that it is 5.9 times more likely
to have LC when a mutated genotype is present in both allele frequency in the patients was 0.66 and in the controls
heterozygous carriers L/R and the homozygous ones R/R. was 0.91, whereas the arginine allele frequency in the
On the other hand, with regard to the G719S variant, the patients was 0.34 and in the controls was 0.09.
glycine allele frequency was mainly observed in control Table 2 lists the genotypic distribution and allele frequen-
individuals more than in affected individuals; meanwhile, cies of the G719S variants. A total of 105 patients were
the serine frequency was 0.08 for cases and 0.04 for homozygous for the glycine allele (G/G), 1 was heterozy-
controls. The chi square test determined that there was no gous (G/S), and 3 were homozygous for the serine allele
significant difference related to the presence of these muta- (S/S). As for the affected individuals, 73 were homozygous
tions between cases and controls (c2 Z 2.2; P O 0.05). for the glycine allele (G/G), 2 were heterozygous (G/S),
Therefore, the presence of the G719S mutation is not asso- and 5 were homozygous for the serine allele (S/S). The
ciated with the development of LC in this population. The glycine allele frequency in the patients was 0.92 and in the
connection between the G/S and S/S genotypes, however, is controls was 0.96, whereas the serine allele frequency in
evident in the risk of developing LC [9]. the patients was 0.08 and in the controls was 0.04.
In the Ecuadorian population, L858R and G719S muta- Table 3 shows the statistical analysis using the chi
tions are mainly found in NSCLC, in women, nonsmokers, square test to determine the level of significance of
and individuals with adenocarcinoma. At present, researches L858R and G719S variants between affected and healthy
are conducting studies on infections with human papiloma individuals with a significance level of 5%, and OR tests
virus (HPV), nutritional status, genetic susceptibility, and were calculated with 95% confidence intervals (95%CI).
immunologic infections to determine whether any of these With concern to the L858R variant, subsequent to corre-
is a contributing factor in nonsmoking women who have lating the data of the 80 individuals with LC and the 109
LC and EGFR mutations [6]. Concerning EGFR mutations healthy individuals, a value of c2 Z 22.4 (P ! 0.001)
in Ecuadorians with LC, a high impact of L858R variant was obtained. With the G719S variant, a value of
was observed, unlike the G719S mutation. This indicates that c2 Z 2.2 (P O 0.05) were obtained. The presence of the
the TK mutations significantly influence individuals L858R and G719S mutations were correlated with the
diagnosed with this neoplasia [8]. OR obtained. Out of a total of 80 individuals with LC, 30
Table 1 lists genotype distribution and allele frequencies of them showed a mutant allele (L/R or R/R), and the re-
of the L858R variant by caseecontrol status. A total of 99 maining 50 had a normal allele (L/L). In contrast, out of
healthy individuals were homozygous for the leucine allele a total of 109 healthy individuals, 10 had a mutant allele,
(L/L), 1 was heterozygous (L/R), and 9 were homozygous and 99 of them showed a normal allele. The statistical test
for the arginine allele (R/R). On the other hand, among the was applied, obtaining an OR of 5.9 (OR Z 5.9, 95%CI
individuals with LC, 50 were homozygous for the leucine 2.7e13.1, P ! 0.001). Regarding the G719S variant, out
allele (L/L), 5 were heterozygous (L/R), and 25 were of 109 control individuals, 4 had mutant allele (G/S or S/
homozygous for the arginine allele (R/R). The leucine S) and 105 did not (G/G). Moreover, out of 80 affected
individuals, 7 showed a mutant allele and 73 had a normal
allele, obtaining an OR of 2.5 (OR Z 2.5 95%CI 0.71e8.9,
Table 2
Genotype distribution and allele frequency of G719S variant P O 0.05). In addition, the OR test was also applied to
determine the relative risk of affected individuals with the
Group Genotype Individuals Percent Genotypic Allelic
frequency frequency presence of the G719S and L858R variants related to
smoking. Out of 80 individuals with LC, 15 had been
Affected G/G 73 91 0.91 0.92
(n Z 80) G/S 2 3 0.03 exposed to cigarette smoking and had mutant alleles. A
S/S 5 6 0.06 0.08 total of 23 showed mutant alleles and had no exposure to
Control G/G 105 96 0.96 0.96 cigarette smoking. In addition, 40 of them did not have
(n Z 109) G/S 1 1 0.01 mutant alleles (L/L, G/G), but had exposure to cigarette
S/S 3 3 0.03 0.04
smoking. Two of them did not show mutant alleles and
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