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一项关于多代炎症性肠病血缘关系及其与疾病发病关系的横断面调查。

A cross-sectional survey of multi-generation inflammatory bowel disease consanguinity and its relationship with disease onset.

作者信息

Mosli Mahmoud, Alzahrani Abdulelah, Showlag Showlag, Alshehri Abdullah, Hejazi Ahmed, Alnefaie Majed, Almaymuni Adel, Abdullahi Mubarak, Albeshir Mohammed, Alsulais Eman, Jawa Hani, Aljahdli Emad, Bazarah Salem, Qari Yousif

机构信息

Department of Medicine, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.

Department of Medicine, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia.

出版信息

Saudi J Gastroenterol. 2017 Nov-Dec;23(6):337-340. doi: 10.4103/sjg.SJG_125_17.

Abstract

UNLABELLED

Background\Aim: Consanguinity influences the phenotypic variations of some hereditary and immune-mediated disorders, including inflammatory bowel disease. This study estimated the prevalence of consanguinity among the ancestors of patients with inflammatory bowel disease and examined the effect of various consanguinity levels on inflammatory bowel disease onset.

PATIENTS AND METHODS

Patients with inflammatory bowel disease who were seen at two gastroenterology outpatient clinics were consecutively recruited and surveyed for demographics, disease onset, and presence of ancestral consanguinity within three generations. The prevalence of different consanguinity levels was calculated. The association between age at inflammatory bowel disease onset and consanguinity was examined.

RESULTS

Two hundred seventeen patients were recruited. The mean age, mean age at diagnosis, and mean illness duration were 32.9 ± 13.4, 18.6 ± 11.5, and 8.6 ± 7.7 years, respectively. Of the cohort, 53.5% were women, and 74.2% were native Saudis. Cigarette smoking was reported in 17.1%; 51% had Crohn's disease, while the remaining patients had ulcerative colitis. A family history of inflammatory bowel disease was reported in 29.5% of patients; consanguinity within three generations was reported in 57.6%. Consanguinity in more than one generation was reported in 38.7%; 17.5% had consanguinity in three consecutive generations. There was no association between inflammatory bowel disease onset and multi-generation consanguinity, but there was an association with disease subtype in favor of ulcerative colitis (b coefficient = 7.1 [95% confidence interval = 4.1, 10]).

CONCLUSIONS

Consanguinity is extremely common among Saudi patients with inflammatory bowel disease but does not seem to influence age at disease onset. Genetic studies are needed to further clarify the effect of consanguinity on disease behavior.

摘要

未标注

背景/目的:近亲结婚会影响一些遗传性和免疫介导性疾病的表型变异,包括炎症性肠病。本研究估计了炎症性肠病患者祖先中近亲结婚的患病率,并研究了不同近亲结婚程度对炎症性肠病发病的影响。

患者与方法

连续招募在两家胃肠病门诊就诊的炎症性肠病患者,并对其人口统计学特征、疾病发病情况以及三代以内祖先的近亲结婚情况进行调查。计算不同近亲结婚程度的患病率。研究炎症性肠病发病年龄与近亲结婚之间的关联。

结果

共招募了217名患者。平均年龄、诊断时的平均年龄和平均病程分别为32.9±13.4岁、18.6±11.5岁和8.6±7.7年。该队列中,53.5%为女性,74.2%为沙特本地人。17.1%的患者有吸烟史;51%患有克罗恩病,其余患者患有溃疡性结肠炎。29.5%的患者有炎症性肠病家族史;57.6%的患者三代以内有近亲结婚情况。三代以上有近亲结婚情况的占38.7%;17.5%的患者三代连续有近亲结婚情况。炎症性肠病发病与多代近亲结婚之间无关联,但与疾病亚型有关,有利于溃疡性结肠炎(b系数=7.1[95%置信区间=4.1,10])。

结论

近亲结婚在沙特炎症性肠病患者中极为常见,但似乎不影响疾病发病年龄。需要进行基因研究以进一步阐明近亲结婚对疾病行为的影响。

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