Ward Kenneth, Argyle VeeAnn, Meade Mary, Nelson Lesa
Department of Obstetrics, Gynecology, Women's Health and the Pacific Research Center for Early Human Development, University of Hawai'i, John A. Burns School of Medicine, Honolulu, Hawai'i, USA.
Obstet Gynecol. 2005 Dec;106(6):1235-9. doi: 10.1097/01.AOG.0000189091.35982.85.
To study the heritability of preterm delivery.
Women who delivered a singleton infant at less than 36 weeks of gestation were asked about their family history. Twenty-eight families were identified in which the proband had at least five first- or second-degree relatives with preterm delivery. An extensive genealogy database (GenDB) was constructed using more than 9,000 genealogy sources in the public domain (records before 1929). GenDB documents the relationships between more than 17.5 million ancestors and 3.5 million descendants of approximately 10,000 individuals who moved to Utah in the mid 1800s. This database was searched for the names, birth dates, and birthplaces of the four grandparents for each of the 28 probands. Pairwise coefficients of kinship were determined for the 93 preterm delivery grandparents identified, and for sets of 100 individuals born in the 1920s who were randomly selected from the population database.
Probands had a mean of 3.3 grandparents included in this database. The average coefficient of kinship for controls was 1.5 x 10(6) (standard deviation = 0.6 x 10(6)). This measure agrees with previous calculations for the Utah population. The coefficient of kinship for familial preterm delivery grandparents was more than 50 standard deviations higher (3.4 x 10(5) [P < .001]).
This study confirms the familial nature of preterm delivery. On average, gravidae randomly selected from our population are 23rd degree relatives, while these preterm delivery probands are eighth-degree relatives. A genome-wide scan using these affected families is underway.
研究早产的遗传度。
询问在妊娠少于36周时分娩单胎婴儿的女性其家族史。确定了28个家族,其中先证者有至少5名早产的一级或二级亲属。使用公共领域中9000多个系谱来源(1929年以前的记录)构建了一个广泛的系谱数据库(GenDB)。GenDB记录了19世纪中叶移居到犹他州的约10000个人的1750多万祖先和350万后代之间的关系。在这个数据库中搜索28名先证者各自的四位祖父母的姓名、出生日期和出生地。确定了93名早产祖父母以及从人群数据库中随机选取的100名出生于20世纪20年代的个体的成对亲属系数。
先证者平均有3.3名祖父母被纳入该数据库。对照组的平均亲属系数为1.5×10⁻⁶(标准差 = 0.6×10⁻⁶)。这一测量结果与之前对犹他州人群的计算结果一致。家族性早产祖父母的亲属系数高出50多个标准差(3.4×10⁻⁵ [P <.001])。
本研究证实了早产的家族性本质。平均而言,从我们的人群中随机选取的孕妇是第23代亲属,而这些早产先证者是第8代亲属。正在对这些受累家族进行全基因组扫描。