对于收缩压个体内变异程度的家族相似性，是否存在可映射的基因？
Are there mappable genes for family resemblance for the magnitude of intra-individual variation in systolic blood pressure?
作者信息
Lin Jennifer, Hinrichs Anthony, Suarez Brian K
机构信息
Division of Preventive Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
出版信息
BMC Genet. 2003 Dec 31;4 Suppl 1(Suppl 1):S11. doi: 10.1186/1471-2156-4-S1-S11.
BACKGROUND
The genetic regulation of variation in intra-individual fluctuations in systolic blood pressure over time is poorly understood. Analysis of the magnitude of the average fluctuation of a person's systolic blood pressure around his or her age-adjusted trend line, however, shows moderate, albeit significant, family resemblance in Cohort 1 of the Framingham Heart Study. To determine whether genomic regions affecting this phenotype could be identified, we pursued a "model-free" multipoint quantitative linkage analysis.
RESULTS
Two different linkage methods revealed multiple nominally significant signals, two to four of which are "replicated" in Cohort 2. When both cohorts are assembled into extended pedigrees, three linkage signals remain nominally significant by one or both methods.
CONCLUSION
Any or all of the genomic regions in the vicinity of D5S1456, D11S2359, and D20S470 may contain elements that regulate systolic blood pressure homeostasis.
背景
个体收缩压随时间的个体内波动变化的遗传调控尚不清楚。然而，对一个人的收缩压围绕其年龄校正趋势线的平均波动幅度进行分析发现，在弗明汉心脏研究队列1中存在适度的家族相似性，尽管这种相似性具有统计学意义。为了确定是否能够识别影响该表型的基因组区域，我们进行了一项“无模型”多点定量连锁分析。
结果
两种不同的连锁分析方法揭示了多个名义上显著的信号，其中两到四个信号在队列2中“重复出现”。当将两个队列合并为扩展家系时，三种连锁信号在一种或两种方法中仍名义上显著。
结论
D5S1456、D11S2359和D20S470附近的任何或所有基因组区域可能包含调节收缩压稳态的元件。
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