Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis.
Association between monoallelic MUTYH mutation and colorectal cancer risk: a meta-regression analysis.
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DOI：
10.1007/s10689-010-9399-5
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发表时间：
2011-03
期刊：
影响因子：
2.2
通讯作者：
Jenkins, Mark A.
中科院分区：
文献类型：
--
作者：
Win, Aung Ko;Hopper, John L.;Jenkins, Mark A.
仅从父母之一遗传 MUTYH 突变（单等位基因突变）的人患结直肠癌 (CRC) 的风险是否增加仍存在争议。大多数先前的研究和荟萃分析尚未发现统计学上显着的关联，但鉴于携带者相对较少，可能不足以检测小幅增加的风险。我们对之前发表的病例对照研究进行了系统回顾和荟萃回归分析，以估计单等位基因 MUTYH 突变与 CRC 风险之间的关联强度。评估了异质性的潜在来源。我们将具有 CRC 家族史的病例的携带频率与对照的携带频率进行了比较，作为一种新颖而有力的设计，以衡量关联的统计证据，而不是关联的强度。基因型-疾病关联的大小是通过将未选择家族史的病例与对照进行比较的汇总比值比来估计的，为 1.15 (95% CI = 0.98–1.36)，并且不会因潜在异质性来源的调整而发生实质性改变。由于家族史而确定的病例（3.3%；SE 0.9%）的单等位基因突变携带者频率高于对照（1.4%；SE 0.3%）（P = 0.02）。单等位基因 MUTYH 突变携带者患 CRC 的风险增加，但平均增加幅度较小。
Whether people who inherit a mutation in MUTYH from only one parent (monoallelic mutation) are at increased risk of colorectal cancer (CRC) remains controversial. Most previous studies and meta-analyses have not found statistically significant associations but, given carriers are relatively rare, may be underpowered to detect small increased risks. We have conducted a systematic review and meta-regression analysis of previously published case–control studies to estimate the strength of association for monoallelic MUTYH mutation and CRC risk. Potential sources of heterogeneity were evaluated. We have compared the carrier frequency in cases with a family history of CRC to that of controls, as a novel and powerful design, to measure statistical evidence of an association but not the strength of association. The magnitude of the genotype-disease association, estimated from a pooled odds ratio comparing cases unselected for family history with controls, was 1.15 (95% CI = 0.98–1.36) and not substantially altered by adjustment for potential sources of heterogeneity. Monoallelic mutation carrier frequency was greater for cases ascertained due to a family history (3.3%; SE 0.9%) than for controls (1.4%; SE 0.3%) (P = 0.02). Monoallelic MUTYH mutation carriers are at increased risk of CRC but the average increase is small.
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影响因子：
8.8
作者：
Colebatch, A.;Hitchins, M.;Ward, R. L.
通讯作者：
Ward, R. L.
影响因子：
6
作者：
Enholm, S;Hienonen, T;Aaltonen, LA
通讯作者：
Aaltonen, LA
影响因子：
6.4
作者：
Gismondi, V;Meta, M;Varesco, L
通讯作者：
Varesco, L
影响因子：
4.1
作者：
Goergens, Heike;Krueger, Stefan;Mueller, Annegret
通讯作者：
Mueller, Annegret
DOI：
10.1016/0027-5107(91)90157-j
发表时间：
1991-09-01
期刊：
MUTATION RESEARCH
影响因子：
--
作者：
AMES, BN;GOLD, LS
通讯作者：
GOLD, LS