Background
Endometriosis is inherited as a complex genetic trait, and the single
nucleotide polymorphism (SNP) rs61764370 within the KRAS
gene on chromosome subband 12p12.1 has been proposed as a potential
candidate gene. By disrupting a binding site for microinterference RNA
(miRNA) let-7, the rs61764370 SNP variation site may increase activation of
KRAS and favor disease development. Conflicting
evidence, however, has emerged on the association between the rs61764370 SNP
and endometriosis. Due to the potential implications of this issue for the
diagnosis and treatment of endometriosis, we sought to replicate the
sequencing of the KRAS rs61764370 SNP in a population of
cases and controls and to perform a meta-analysis encompassing all currently
available studies as well as our novel replication.
Methods
We sought to replicate for the first time the sequencing of
KRAS rs61764370 SNP in a highly selected population of
86 cases of women with laparoscopically proven endometriosis and 72 healthy
controls, and to perform a meta-analysis encompassing currently available
studies and including affected subjects (n = 2,225) and controls (n =
1,923).
Results
The rs61764370 minor allele was observed in 12 of 86 women with endometriosis
(14.0%) and in 15 of 72 controls (20.8%) (odds ratio [OR] = 0.76, 95%
confidence interval [95% CI], 0.36-1.60, p = 0.48). The meta-analysis failed
to identify any significant association (OR = 1.03, 95% CI, 0.89-1.20, p =
0.67, phet = 0.46).
Conclusions
KRAS variation site rs61764370 is unlikely related to
disease development, and other loci with potential implications for
diagnosis or treatment for endometriosis should be identified.
