Quevedo Edhit Guadalupe Cruz, Aguilar Gabriela Monserrat Mimendi, Aguilar Luis Anselmo Juárez, Rubio Susan Andrea Gutierrez, Martínez Silvia Esperanza Flores, Rodríguez Ingrid Patricia Dávalos, Corona José Sánchez, Morán Martha Isabel Torres, Gómez Roberto Carlos Rosales, Moguel María Cristina Morán
División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada, No. 800, Colonia Independencia, 44340 Guadalajara, JAL, Mexico.
División de Medicina Molecular, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Sierra Mojada, No. 800, Colonia Independencia, 44340 Guadalajara, JAL, Mexico ; Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Sierra Mojada, No. 950, Colonia Independencia, 44340 Guadalajara, JAL, Mexico.
Dis Markers. 2015;2015:365845. doi: 10.1155/2015/365845. Epub 2015 Feb 24.
KiSS1 is a metastasis suppressor gene associated with inhibition of cellular chemotaxis and invasion attenuating the metastasis in melanoma and breast cancer cell lines. Along the KiSS-1 gene at least 294 SNPs have been described; however the association of these polymorphisms as genetic markers for metastasis in breast cancer studies has not been investigated. Here we describe two simple PCR-RFLPs protocols to identify the rs5780218 (9DelT) and the rs12998 (E20K) KiSS1 polymorphisms and the allelic, genotypic, and haplotypic frequencies in Mexican general population (GP) and patients with benign breast disease (BBD) or breast cancer (BC).
The rs5780218 polymorphism was individually associated with breast cancer (P = 0.0332) and the rs12998 polymorphism shows statistically significant differences when GP versus case (BC and BBD) groups were compared (P < 0.0001). The H1 Haplotype (G/-) occurred more frequently in BC group (0.4256) whereas H2 haplotype (G/T) was the most prevalent in BBD group (0.4674).
Our data indicated that the rs5780218 polymorphism individually confers susceptibility for development of breast cancer in Mexican population and a possible role as a genetic marker in breast cancer metastasis for H1 haplotype (Wt/variant) in KiSS1 gene must be analyzed in other populations.
KiSS1是一种转移抑制基因，与抑制细胞趋化性和侵袭有关，可减弱黑色素瘤和乳腺癌细胞系中的转移。沿着KiSS-1基因已描述了至少294个单核苷酸多态性（SNP）；然而，在乳腺癌研究中，尚未研究这些多态性作为转移的遗传标记的关联。在此，我们描述了两种简单的聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方案，以鉴定rs5780218（9DelT）和rs12998（E20K）KiSS1多态性，以及墨西哥普通人群（GP）、良性乳腺疾病（BBD）患者或乳腺癌（BC）患者的等位基因、基因型和单倍型频率。
rs5780218多态性与乳腺癌单独相关（P = 0.0332），当比较GP与病例（BC和BBD）组时，rs12998多态性显示出统计学上的显著差异（P < 0.0001）。H1单倍型（G/-）在BC组中出现的频率更高（0.4256），而H2单倍型（G/T）在BBD组中最为普遍（0.4674）。
我们的数据表明，rs5780218多态性单独赋予墨西哥人群患乳腺癌的易感性，并且必须在其他人群中分析KiSS1基因中H1单倍型（野生型/变异型）作为乳腺癌转移遗传标记的可能作用。
