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中非人、东南亚人和中美洲人中唇腭裂的父母风险因素。

Parental risk factors for oral clefts among Central Africans, Southeast Asians, and Central Americans.

作者信息

Figueiredo Jane C, Ly Stephanie, Magee Kathleen S, Ihenacho Ugonna, Baurley James W, Sanchez-Lara Pedro A, Brindopke Frederick, Nguyen Thi-Hai-Duc, Nguyen Viet, Tangco Maria Irene, Giron Melissa, Abrahams Tamlin, Jang Grace, Vu Annie, Zolfaghari Emily, Yao Caroline A, Foong Athena, DeClerk Yves A, Samet Jonathan M, Magee William

机构信息

Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.

Division of Plastic & Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, California.

出版信息

Birth Defects Res A Clin Mol Teratol. 2015 Oct;103(10):863-79. doi: 10.1002/bdra.23417. Epub 2015 Aug 25.

DOI:10.1002/bdra.23417
PMID:26466527
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5049483/
Abstract

BACKGROUND

Several lifestyle and environmental exposures have been suspected as risk factors for oral clefts, although few have been convincingly demonstrated. Studies across global diverse populations could offer additional insight given varying types and levels of exposures.

METHODS

We performed an international case-control study in the Democratic Republic of the Congo (133 cases, 301 controls), Vietnam (75 cases, 158 controls), the Philippines (102 cases, 152 controls), and Honduras (120 cases, 143 controls). Mothers were recruited from hospitals and their exposures were collected from interviewer-administered questionnaires. We used logistic regression modeling to estimate odds ratios (OR) and 95% confidence intervals (CI).

RESULTS

Family history of clefts was strongly associated with increased risk (maternal: OR = 4.7; 95% CI, 3.0-7.2; paternal: OR = 10.5; 95% CI, 5.9-18.8; siblings: OR = 5.3; 95% CI, 1.4-19.9). Advanced maternal age (5 year OR = 1.2; 95% CI, 1.0-1.3), pregestational hypertension (OR = 2.6; 95% CI, 1.3-5.1), and gestational seizures (OR = 2.9; 95% CI, 1.1-7.4) were statistically significant risk factors. Lower maternal (secondary school OR = 1.6; 95% CI, 1.2-2.2; primary school OR = 2.4, 95% CI, 1.6-2.8) and paternal education (OR = 1.9; 95% CI, 1.4-2.5; and OR = 1.8; 95% CI, 1.1-2.9, respectively) and paternal tobacco smoking (OR = 1.5, 95% CI, 1.1-1.9) were associated with an increased risk. No other significant associations between maternal and paternal factors were found; some environmental factors including rural residency, indoor cooking with wood, chemicals and water source appeared to be associated with an increased risk in adjusted models.

CONCLUSION

Our study represents one of the first international studies investigating risk factors for clefts among multiethnic underserved populations. Our findings suggest a multifactorial etiology including both maternal and paternal factors.

摘要

背景

尽管很少有因素得到令人信服的证实,但几种生活方式和环境暴露因素被怀疑是口腔裂隙的风险因素。鉴于不同类型和水平的暴露情况,对全球不同人群进行的研究可能会提供更多见解。

方法

我们在刚果民主共和国(133例病例,301例对照)、越南(75例病例,158例对照)、菲律宾(102例病例,152例对照)和洪都拉斯(120例病例,143例对照)开展了一项国际病例对照研究。从医院招募母亲,并通过访员管理的问卷收集她们的暴露情况。我们使用逻辑回归模型来估计比值比(OR)和95%置信区间(CI)。

结果

口腔裂隙家族史与风险增加密切相关(母亲:OR = 4.7;95% CI,3.0 - 7.2;父亲:OR = 10.5;95% CI,5.9 - 18.8;兄弟姐妹:OR = 5.3;95% CI,1.4 - 19.9)。母亲高龄(5年OR = 1.2;95% CI,1.0 - 1.3)、孕前高血压(OR = 2.6;95% CI,1.3 - 5.1)和妊娠期癫痫(OR = 2.9;95% CI,1.1 - 7.4)是具有统计学意义的风险因素。母亲(中学学历OR = 1.6;95% CI,1.2 - 2.2;小学学历OR = 2.4,95% CI,1.6 - 2.8)和父亲教育程度较低(OR分别为1.9;95% CI,1.4 - 2.5;以及OR = 1.8;95% CI,1.1 - 2.9)和父亲吸烟(OR = 1.5,95% CI,1.1 - 1.9)与风险增加相关。未发现母亲和父亲因素之间的其他显著关联;在调整模型中,一些环境因素包括农村居住、用木材室内烹饪、接触化学品和水源似乎与风险增加有关。

结论

我们的研究是首批调查多民族服务不足人群口腔裂隙风险因素的国际研究之一。我们的研究结果表明病因是多因素的,包括母亲和父亲因素。

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Am J Med Genet A. 2014 Oct;164A(10):2572-80. doi: 10.1002/ajmg.a.36693. Epub 2014 Aug 5.
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Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts.对多个家庭中远亲进行的全外显子组测序表明,口腔裂隙候选基因中存在罕见变异。
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