Gastroenterol：憩室病变的遗传和家族聚集性

　　近日，美国华盛顿的Lisa Strate评价了遗传因素对于住院或门诊就诊时所诊断的憩室病变的发生的作用。该文在线发表在2013年《胃肠病学》（Gastroenterol）杂志上。

　　该团队采用全国患者登记系统确定了丹麦的142,123名于住院或门诊就诊时偶然诊断为憩室病变的患者，并纳入了10,420对索引同胞和923对双胞胎。他们计算了同胞间相对一般人群的标准化发病比率和评价同卵双胞胎与二卵双胞胎的相对危险（RR）时的一致率。索引同胞中憩室病变的相对危险是一般人群的2.9倍。不同性别的同胞或索引病例间相对危险相似，住院和接受手术的同胞病例中相对危险尤其升高。单卵双胞胎的先证者发病一致率是双卵双胞胎的两倍。

　　研究团队注意到双胞胎中一名患有憩室病变时，另一名的憩室病变相对危险在单卵双胞胎中为14.5倍，在双卵双胞胎中为5.5倍。女性单卵双胞胎与男性双胞胎相比关联更强。他们估计憩室病变53%的易感性来自遗传因素。

　　Strate医师的团队做出结论：“根据丹麦的一项基于人群的研究，遗传因素似乎参与了憩室病变的发生。”

与憩室相关的拓展阅读：

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Heritability and Familial Aggregation of Diverticular Disease: A Population-Based Study of Twins and Siblings
BACKGROUND & AIMS
Little is known about the role of heritable factors in diverticular disease. We evaluated the contribution of heritable factors to the development of diverticular disease diagnosed at a hospitalization or outpatient visit.
METHODS
Using nationwide patient registries, we identified 142,123 incident cases of diverticular disease diagnosed at a hospitalization (1977-2011) or an outpatient hospital visit (1995-2011) in Denmark, including cases in 10,420 index siblings and 923 twins. We calculated standardized incidence ratios for siblings versus the general population and concordance rates for monozygotic versus dizygotic twin pairs as measures of relative risk (RR).
RESULTS
The RR for diverticular disease in siblings of index cases was 2.92 (95% confidence interval [CI], 2.50-3.39) compared with the general population. The RRs were similar irrespective of the sex of the sibling or index case and were particularly strong in siblings of hospitalized cases and cases that underwent surgery. The proband-wise concordance rate for monozygotic twins was double that of dizygotic twins (0.16 [95% CI, 0.11-0.22] vs 0.07 [95% CI, 0.05-0.11], respectively). The RR of diverticular disease in one twin when the other had diverticular disease was 14.5 (95% CI, 8.9-23) for monozygotic twins compared with 5.5 (95% CI, 3.3-8.6) for dizygotic twins. Associations were stronger in female monozygotic twins compared with male twins (tetrachoric correlation, 0.60 [95% CI, 0.49-0.70] vs 0.33 [95% CI, 0.13-0.51]; P = .03 in an analysis stratified by sex and zygosity). We estimate that 53% (95% CI, 45%-61%) of susceptibility to diverticular disease results from genetic factors.
CONCLUSIONS
Based on a population-based study in Denmark, genetic factors appear to contribute to development of diverticular disease.