Analysis of chromosome 1q42.2-43 in 152 families with high risk of prostate cancer.
Analysis of chromosome 1q42.2-43 in 152 families with high risk of prostate cancer.
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152个前列腺癌高危家族染色体1q42.2-43分析
DOI：
10.1086/302342
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发表时间：
1999
影响因子：
9.8
通讯作者：
Ostrander,EA
中科院分区：
文献类型：
--
作者：
Gibbs,M;Chakrabarti,L;Stanford,JL;Goode,EL;Kolb,S;Schuster,EF;Buckley,VA;Shook,M;Hood,L;Jarvik,GP;Ostrander,EA
对 152 个患有前列腺癌的家庭进行了分析，以了解与跨越 1q42.2-43 20-cM 区域（假定的前列腺癌易感基因座 (PCAP) 的位置）的标记的关联。在我们的总数据集中（包括 522 名基因分型受影响的男性），通过使用参数和非参数检验，没有发现显着的关联证据。拒绝连锁可能反映了位点异质性或老年发病病例中散发性疾病的混杂影响；因此，根据诊断前列腺癌时的平均年龄和受影响男性的数量，将谱系分层为同质子集。对这些子集的分析也没有检测到显着的连锁证据，尽管 LOD 分数在较高的重组分数下呈阳性，这与存在一小部分具有连锁的家族是一致的。最具暗示性的关联证据出现在至少有 5 名受影响男性的家庭中（非参数关联得分为 1.2；P=.1）。如果假设异质性，这 152 个家族中估计有 4%–9% 可能在该区域显示出联系。我们的结论是，尽管一小部分的关联与这些数据相符，但推定的 PCAP 位点并未占这些前列腺癌家族的很大一部分。
One hundred fifty-two families with prostate cancer were analyzed for linkage to markers spanning a 20-cM region of 1q42.2-43, the location of a putative prostate cancer–susceptibility locus (PCAP). No significant evidence for linkage was found, by use of both parametric and nonparametric tests, in our total data set, which included 522 genotyped affected men. Rejection of linkage may reflect locus heterogeneity or the confounding effects of sporadic disease in older-onset cases; therefore, pedigrees were stratified into homogeneous subsets based on mean age at diagnosis of prostate cancer and number of affected men. Analyses of these subsets also detected no significant evidence for linkage, although LOD scores were positive at higher recombination fractions, which is consistent with the presence of a small proportion of families with linkage. The most suggestive evidence of linkage was in families with at least five affected men (nonparametric linkage score of 1.2;P=.1). If heterogeneity is assumed, an estimated 4%–9% of these 152 families may show linkage in this region. We conclude that the putativePCAPlocus does not account for a large proportion of these families with prostate cancer, although the linkage of a small subset is compatible with these data.