Prasad Vidudala V T S, Kolli Padma, Moganti Divya
Research and Development, Indo-American Cancer Institute and Research Centre, Hyderabad, Andhra Pradesh 500034, India.
Exp Ther Med. 2011 Mar;2(2):317-323. doi: 10.3892/etm.2011.209. Epub 2011 Jan 20.
The overexpression of arachidonyl lipoxygenase-12 (ALOX12) in breast cancer has been reported. Hence, we examined whether a non-synonymous polymorphism of ALOX12 (mRNA, A835G; Gln261Arg) is associated with breast cancer in females. The polymorphism was detected in genomic DNA by PCR-RFLP. The association between the A835G polymorphism and breast cancer risk was measured by odds ratio (OR) with 95% confidence intervals (CIs) using Fisher's exact test, and differences were considered significant at p<0.05. The frequencies of AA (wild-type), GG (homozygous variant) and AG (heterozygous variant) were 59.5, 0.9 and 39.6% in the controls, and 39.3, 2.5 and 58.2% in the breast cancer cases, respectively. The frequency of the AG genotype was higher in the patients compared to the controls (p<0.0014). The frequency of the GG variant was 2.5 and 0.9% in the cancer subjects and controls, respectively. The relative risk of breast cancer was 2 times greater (OR=2.227) at 95% CI when compared to the relative risk of the heterozygous variant. For the GG genotype, the risk was 4 times greater (OR=4.125) at 95% CI than that of the controls, suggesting a positive association of the AG genotype with the occurrence of breast cancer. The frequencies of the polymorphism were different in different populations. The Arg/Gln and Arg/Arg variants were associated with an increased risk of breast cancer, and the frequencies of the variants differed considerably among various populations. The identification of a gene with links to breast cancer may impact screening, diagnosis and drug development.
已有报道称花生四烯酸脂氧合酶-12（ALOX12）在乳腺癌中过表达。因此，我们研究了ALOX12的一个非同义多态性（mRNA，A835G；Gln261Arg）是否与女性乳腺癌相关。通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测基因组DNA中的该多态性。采用Fisher精确检验，通过优势比（OR）及95%置信区间（CI）来衡量A835G多态性与乳腺癌风险之间的关联，p<0.05时差异具有统计学意义。对照组中AA（野生型）、GG（纯合变异型）和AG（杂合变异型）的频率分别为59.5%、0.9%和39.6%，乳腺癌病例组中分别为39.3%、2.5%和58.2%。与对照组相比，患者中AG基因型的频率更高（p<0.0014）。GG变异型在癌症患者和对照组中的频率分别为2.5%和0.9%。与杂合变异型的相对风险相比，乳腺癌的相对风险在95%CI时高出2倍（OR=2.227）。对于GG基因型，在95%CI时风险比对照组高出4倍（OR=4.125），表明AG基因型与乳腺癌的发生呈正相关。该多态性的频率在不同人群中有所不同。Arg/Gln和Arg/Arg变异型与乳腺癌风险增加相关，且不同人群中变异型的频率差异很大。鉴定出与乳腺癌相关的基因可能会影响筛查、诊断和药物研发。
