爱尔兰有神经管缺陷的家族中出现了三代母系遗传的出生缺陷过多。
Three generations of matrilineal excess of birth defects in Irish families with neural tube defects.
机构信息
Boyne Research Institute, Duke House, Duke Street, Drogheda, Ireland.
出版信息
Ir J Med Sci. 2011 Mar;180(1):69-72. doi: 10.1007/s11845-010-0632-x. Epub 2010 Nov 6.
BACKGROUND
Neural tube defects (NTDs) and birth defects overall are more likely to occur among maternal compared to paternal relatives in two generations (uncles/aunts and first cousins) of Irish families where an individual has been born with an NTD.
AIMS
The aim of this study was to determine if the matrilineal excess persisted into the third generation.
METHODS
First cousins were interviewed about their pregnancy outcomes and their offsprings' health.
RESULTS
Maternal first cousins once removed (FCOR) were more likely to have birth defects than paternal FCOR: 6.7 versus 3.5% (adjusted odds ratio 1.49, 95% CI 0.57, 3.89). No NTDs occurred. Folic acid supplementation significantly reduced the risk of birth defects (P = 0.04).
CONCLUSIONS
This study demonstrates an excess of birth defects among maternal relatives in three consecutive generations of NTD families, and supports the hypothesis that an underlying mechanism links distant maternal relatives in at least some NTD families.
背景
在爱尔兰家庭中，如果个体患有神经管缺陷（NTD），则其两代（叔伯/姑姨和第一代堂表亲）内的母系亲属比父系亲属更有可能出现神经管缺陷和出生缺陷。
目的
本研究旨在确定母系亲属的过剩现象是否会持续到第三代。
方法
对第一代堂表亲进行妊娠结局和后代健康状况的访谈。
结果
母亲的第一代远堂表亲（FCOR）比父亲的 FCOR 更有可能出现出生缺陷：6.7%比 3.5%（调整后的优势比 1.49，95%置信区间 0.57，3.89）。没有发生神经管缺陷。叶酸补充显著降低了出生缺陷的风险（P=0.04）。
结论
本研究表明，在 NTD 家族的连续三代中，母系亲属中存在出生缺陷过剩现象，支持了这样一种假设，即在至少一些 NTD 家族中，一种潜在的机制将远房母系亲属联系在一起。
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