GWAS基因检测

GWAS基因检测

GWAS基因检测可以在全基因组范围内进行高通量的大规模筛选，可以发现单基因检测很难发现的遗传变异，检测结果更准确，做到真正的疾病预防：早发现、早预防、早治疗。

国际最新的GWAS全基因组基因检测技术，选取多个疾病密切相关的的基因位点，对SNP进行全面的检测，对易感疾病的判断更敏锐、准确度更高。GWAS全基因组检测技术具体操作如下：

(1)收集对照组和患者样本(组织、血液等)，提取DNA

(2)进行全基因组单核苷酸多态性(SNP)芯片扫描，获得数据信息

(3)采用关联分析，筛选与疾病关联的序列变异的研究

该方法试图通过疾病的变异基因和单核苷酸多态性，研究确定疾病发病易感区域和相关基因，寻找疾病的标记物，进行早期诊断和有效的个体化治疗，进行特异性预防措施。

GWAS与以往检测的区别和优点：

现在针对我们平台所做的肿瘤套餐介绍如下：我们在GWAS数据库中提取了针对于亚洲人群(主要是日本、韩国、中国、马来西亚等人种)研究的肿瘤相关文献，挑选各个肿瘤的相关疾病位点进行研究。现针对各个肿瘤介绍其相关位点信息：

(1)胃癌基因检测的相关位点：

参考文献：

1. Zhang H, Jin G, Li H, et al. Genetic variants at 1q22 and 10q23 reproducibly associated with gastric cancer susceptibility in a Chinese population. Carcinogenesis. 2011; 32(6): 848-5

2.

2. Wang N, Zhou R, Wang C, et al. A polymorphism of the interleukin-8 gene and cancer risk: a HuGE review and meta-analysis based on 42 case-control studies. Mol Biol Rep. 2012; 39(3): 2831-41.

3. Lu Y, Chen J, Ding Y,et al. Genetic variation of PSCA gene is associated with the risk of both diffuse- and intestinal-type gastric cancer in a Chinese population. Int J Cancer. 2010; 127(9): 2183-9.

4. Shi Y, Hu Z, Wu C, et al. A genome-wide association study identifies new susceptibility loci for non-cardia gastric cancer at 3q13.31 and 5p13.1. Nat Genet. 2011; 43(12): 1215-8.

(2)、鼻咽癌基因检测的相关位点：

(3)、肺癌基因检测的相关位点：

参考文献：

1. Hu Z, Wu C, Shi Y, et al. A genome-wide association study identifies

two new lung cancer susceptibility loci at 13q12.12 and 22q12.2 in Han Chinese. Nat Genet. 2011; 43(8): 792-6.

2. Ahn MJ, Won HH, Lee J, et al. The 18p11.22 locus is associated with never smoker non-small cell lung cancer susceptibility in Korean populations. Hum Genet. 2012; 131(3): 365-72.

3. Yoon KA, Park JH, Han J, et al. A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population. Hum Mol Genet.2010; 19(24):4948-5

4.

(4)、甲状腺癌基因检测的相关位点：

参考文献：

1.Matsuse M, Takahashi M, Mitsutake N, et al. The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population. J Med Genet. 2011;48(9): 645-8.

(5)、前列腺癌基因检测的相关位点：

参考文献：

1.Takata R, Akamatsu S, Kubo M, Takahashi A, et al. Genome-wide association study identifies five new susceptibility loci for prostate cancer in theJapanese population. Nat Genet. 2010;42(9): 751-4.

(6)、子宫内膜癌基因检测的相关位点：

参考文献：

1. Xu WH, Long JR, Zheng W, et al. Association of the progesterone receptor gene with endometrial cancer risk in a Chinese population. Cancer. 2009; 115(12): 2693-700.

2. Long J, Zheng W, Xiang YB et al. Genome-wide association study