Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
J Pediatr. 2012 Jan;160(1):19-24.e4. doi: 10.1016/j.jpeds.2011.07.038. Epub 2011 Aug 31.
To examine associations between rs9883204 in ADCY5 and rs900400 near LEKR1 and CCNL1 with birth weight in a preterm population. Both markers were associated with birth weight in a term population in a recent genome-wide association study of Freathy et al.
A meta-analysis of mother and infant samples was performed for associations of rs900400 and rs9883204 with birth weight in 393 families from the US, 265 families from Argentina, and 735 mother-infant pairs from Denmark. Z-scores adjusted for infant sex and gestational age were generated for each population separately and regressed on allele counts. Association evidence was combined across sites by inverse-variance weighted meta-analysis.
Each additional C allele of rs900400 (LEKR1/CCNL1) in infants was marginally associated with a 0.069 SD lower birth weight (95% CI, -0.159 to 0.022; P = .068). This result was slightly more pronounced after adjusting for smoking (P = .036). No significant associations were identified with rs9883204 or in maternal samples.
These results indicate the potential importance of this marker on birth weight regardless of gestational age.
研究 ADCY5 基因上的 rs9883204 位点和 LEKR1 及 CCNL1 基因附近的 rs900400 与早产人群出生体重的相关性。Freathy 等人最近进行的一项全基因组关联研究表明，这两个标记物与足月人群的出生体重有关。
对来自美国的 393 个家庭、阿根廷的 265 个家庭和丹麦的 735 对母婴样本进行了荟萃分析，以研究 rs900400 和 rs9883204 与出生体重的相关性。每个群体分别生成了针对婴儿性别和胎龄进行调整的 Z 分数，并对等位基因计数进行回归。通过逆方差加权荟萃分析对各研究地点的关联证据进行合并。
婴儿中 rs900400（LEKR1/CCNL1）的每个额外 C 等位基因与出生体重降低 0.069 SD（95% CI，-0.159 至 0.022；P =.068）相关。在调整吸烟因素后，该结果更为显著（P =.036）。未发现与 rs9883204 或母体样本的显著关联。
这些结果表明，无论胎龄如何，该标记物对出生体重的重要性。
