乳癌の最新GWAS:70000症例での検討：nature genetics

Nature Genetics
　　　　　Received 16 August 2011
　　　　　Accepted 01 December 2011
　　　　　Published online 22 January 2012

Genome-wide association analysis identifies three new breast cancer susceptibility loci

Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ~70,000 cases and ~68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10−35), 12q24 (rs1292011; P = 4.3 × 10−19) and 21q21 (rs2823093; P = 1.1 × 10−12). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.

国際研究という意味では空前絶後に近いかもしれない。ヨーロッパはほぼあらゆる国が参加し、ポーランドやロシアの名前もある。アメリカ、台湾、シンガポール、韓国の名前も。主導者はベルギーなのだろう。これまでに行われた41 case-control 研究と9つの乳癌GWAS研究（結果７００００件の乳癌と　６８０００件のコントロール）の統合である。12p11 (rs10771399; P = 2.7 × 10−35)を初めとして３つの新しいリスク部位を明らかにしている。

と、ここまでで紹介が止まる。このあとが知りたいのだがね。ここから先なかなか難しいのがGWAS研究ということになるのかな。