Environmental and Genetic Factors Associated with Congenital Microtia: A Case-Control Study in Jiangsu, China, 2004 to 2007
Environmental and Genetic Factors Associated with Congenital Microtia: A Case-Control Study in Jiangsu, China, 2004 to 2007
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DOI：
10.1097/prs.0b013e3181b454d8
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发表时间：
2009-10-01
影响因子：
3.6
通讯作者：
Shen, Hao
中科院分区：
文献类型：
--
作者：
Zhang, Qing-guo;Zhang, Jiao;Shen, Hao
背景：本研究旨在筛选出先天性小耳畸形的环境和遗传危险因素，并阐明环境因素和遗传因素与先天性小耳畸形的关系。方法：对121例先天性小耳畸形患者和152例对照进行病例对照研究。与环境暴露有关的流行病学数据是通过与目标群体的个人访谈收集的。采用聚合酶链式反应和DNA序列分析方法对病例组和对照组的GSC基因和BMP5基因突变进行分析。结果：孕期疾病(优势比5.890；95%可信区间2.358~14.715)、孕期毒性暴露(优势比4.764；95%可信区间1.659~13.680)、居住地(优势比5.114；95%可信区间2.086~12.535)是主要的危险因素。综合归属风险为0.7185。在GSC基因中，6例患者外显子2第197bp发生G-GT等义突变，2例外显子3发生错义突变A-GT；在4例患者中检测到196个TTT->；ACA的杂合子导致错义突变，导致BMP5母体多肽基因的氨基酸由苯丙氨酸变为苏氨酸。结论：环境因素和遗传因素共同参与了先天性小耳畸形的发生。GSC基因和BMP5母体肽基因可能是小耳畸形的易感基因。需要进一步的研究来阐明危险因素与小耳畸形之间的关系。(最后一次。重新构造外科124：1157,2009。)
Background: The objectives of this study were to filter out the environmental and genetic risk factors in microtia patients and to demonstrate the relationship between environmental and inherited factors in congenital microtia.Methods: A case-control study was carried out in 121 congenital microtia patients and 152 controls. Epidemiologic data related to environmental exposure were gathered through personal interviews with the target group. Polymerase chain reaction and DNA sequence analysis were performed to analyze the Gsc gene and BMP5 gene mutation in the case and control groups. The logistic regression model was used to analyze environmental and genetic risk factors and their relationships to microtia.Results: The main risk factors were disease during pregnancy (odds ratio, 5.890; 95 percent CI, 2.358 to 14.715), toxicity exposure during pregnancy (odds ratio, 4.764; 95 percent CI, 1.659 to 13.680), and resident area (odds ratio, 5.114; 95 percent CI, 2.086 to 12.535). The synthetic attributable risks amount to 0.7185. As to the Gsc gene, six of these patients had a same-sense mutation G -> T on 197 bp in exon 2; a missense mutation on A -> G 125 bp in exon 3 occurred in two cases; and amino acid changes from glutamic acid to glutamine. A heterozygosity on 196 TTT -> ACA resulting in missense mutation was detected in four patients, causing the amino acid to change from phenylalanine to threonine in BMP5 maternal peptide gene. However, no mutations were detected in the control subjects.Conclusions: The results suggested that both environmental and genetic factors contribute to congenital microtia. The Gsc gene and the BMP5 maternal peptide gene may act as the predisposing genes of microtia. Further research is needed to clarify the relationship between the risk factors and microtia. (Plast. Reconstr. Surg. 124: 1157, 2009.)