6月《自然—遺傳學(xué)》上的兩篇文章報(bào)告了與睪丸癌有關(guān)的12種新的危險(xiǎn)遺傳變異的發(fā)現(xiàn)。
睪丸生殖細(xì)胞腫瘤是年輕人中最常見的一種癌癥,，發(fā)病峰值處于25到34歲之間。
Katherine Nathanson等人對睪丸生殖細(xì)胞腫瘤的6項(xiàng)全基因組關(guān)聯(lián)研究進(jìn)行了元分析,，以及后續(xù)六個(gè)額外樣品的副本檢測,。他們發(fā)現(xiàn)了4個(gè)新的染色體區(qū)域與該疾病的風(fēng)險(xiǎn)增加有關(guān)。在另外一項(xiàng)實(shí)驗(yàn)中,，Clare Turnbull等人則對一項(xiàng)全基因關(guān)聯(lián)研究和一項(xiàng)大型副本研究的數(shù)據(jù)進(jìn)行了元分析，并發(fā)現(xiàn)了睪丸癌的9個(gè)新易感變異,，其中一個(gè)與Nathanson等人獲得的結(jié)果重疊,。而且，此12個(gè)遺傳變異中有一部分變異會駐留在對男性生殖細(xì)胞發(fā)育有重要作用的基因附近,。（生物谷Bioon.com）
Nature Genetics, doi:10.1038/ng.2634
Meta-analysis identifies four new loci associated with testicular germ cell tumor
Charles C Chung,Peter A Kanetsky,Zhaoming Wang,Michelle A T Hildebrandt,Roelof Koster,Rolf I Skotheim,Christian P Kratz,Clare Turnbull,Victoria K Cortessis,Anne C Bakken,D Timothy Bishop,Michael B Cook,R Loren Erickson,Sophie D Foss,Kevin B Jacobs,Larissa A Korde,Sigrid M Kraggerud,Ragnhild A Lothe,Jennifer T Loud,Nazneen Rahman,Eila C Skinner,Duncan C Thomas,Xifeng Wu,Meredith Yeager,Fredrick R Schumacher et al.
We conducted a meta-analysis to identify new susceptibility loci for testicular germ cell tumor (TGCT). In the discovery phase, we analyzed 931 affected individuals and 1,975 controls from 3 genome-wide association studies (GWAS). We conducted replication in 6 independent sample sets comprising 3,211 affected individuals and 7,591 controls. In the combined analysis, risk of TGCT was significantly associated with markers at four previously unreported loci: 4q22.2 in HPGDS (per-allele odds ratio (OR) = 1.19, 95% confidence interval (CI) = 1.12–1.26; P = 1.11 × 10?8), 7p22.3 in MAD1L1 (OR = 1.21, 95% CI = 1.14–1.29; P = 5.59 × 10?9), 16q22.3 in RFWD3 (OR = 1.26, 95% CI = 1.18–1.34; P = 5.15 × 10?12) and 17q22 (rs9905704: OR = 1.27, 95% CI = 1.18–1.33; P = 4.32 × 10?13 and rs7221274: OR = 1.20, 95% CI = 1.12–1.28; P = 4.04 × 10?9), a locus that includes TEX14, RAD51C and PPM1E. These new TGCT susceptibility loci contain biologically plausible genes encoding proteins important for male germ cell development, chromosomal segregation and the DNA damage response.
