对Xq27 - Xq28区域的重新分析表明，一个X连锁基因与无隐睾症的散发性睾丸生殖细胞肿瘤存在弱关联。
Re-analysis of the Xq27-Xq28 region suggests a weak association of an X-linked gene with sporadic testicular germ cell tumour without cryptorchidism.
作者信息
Lutke Holzik M F, Hoekstra H J, Sijmons R H, Sonneveld D J A, van der Steege G, Sleijfer D Th, Nolte I M
机构信息
Department of Surgical Oncology, University Medical Centre Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands.
出版信息
Eur J Cancer. 2006 Aug;42(12):1869-74. doi: 10.1016/j.ejca.2006.03.009. Epub 2006 Jun 22.
BACKGROUND
A testicular germ cell tumour (TGCT) predisposing gene has been mapped to the Xq27 region on the X chromosome. These linkage findings remain to be confirmed by other studies.
METHODS
In 276 patients and 169 unaffected first-degree male relatives, 12 microsatellite markers covering the candidate region were genotyped and used to study possible association of TGCT with Xq27.
RESULTS
In contrast to previously reported linkage of familial TGCT and cryptorchidism with Xq27, we observed an association between the subset of TGCT cases without a family history of TGCT or cryptorchism and marker DXS1193 (p=0.014). Carriers of minor alleles were at increased risk (odds ratio (OR) 4.7, confidence interval (CI) 1.1-19.6)
CONCLUSION
We found an association on Xq27 in a subset of TGCT cases, which suggests the presence of an X-linked gene that slightly or moderately increases risk to develop sporadic TGCT but not cryptorchidism.
背景
睾丸生殖细胞肿瘤（TGCT）易感基因已被定位到X染色体的Xq27区域。这些连锁研究结果仍有待其他研究证实。
方法
对276例患者和169名未受影响的一级男性亲属，对覆盖候选区域的12个微卫星标记进行基因分型，并用于研究TGCT与Xq27之间可能的关联。
结果
与先前报道的家族性TGCT和隐睾症与Xq27的连锁关系相反，我们观察到无TGCT或隐睾症家族史的TGCT病例亚组与标记DXS1193之间存在关联（p=0.014）。次要等位基因携带者风险增加（优势比（OR）4.7，置信区间（CI）1.1-19.6）
结论
我们在一部分TGCT病例中发现了Xq27上的关联，这表明存在一个X连锁基因，该基因会轻微或中度增加散发性TGCT而非隐睾症的发病风险。
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