Towne Bradford, Williams Kimberly D, Blangero John, Czerwinski Stefan A, Demerath Ellen W, Nahhas Ramzi W, Dyer Thomas D, Cole Shelley A, Lee Miryoung, Choh Audrey C, Duren Dana L, Sherwood Richard J, Chumlea William Cameron, Siervogel Roger M
Lifespan Health Research Center, Department of Community Health, Boonshoft School of Medicine, Wright State University, 3171 Research Blvd., Dayton, OH 45420, USA.
Hum Biol. 2008 Dec;80(6):623-36. doi: 10.3378/1534-6617-80.6.623.
Growth is a complex process composed of distinct phases over the course of childhood. Although the pubertal growth spurt has received the most attention from auxologists and pediatricians, the midchildhood growth spurt has been less well studied. The midchildhood growth spurt refers to a relatively small increase in growth velocity observed in some, but not necessarily all, children in early to middle childhood. If present, the midchildhood growth spurt typically occurs sometime between the ages of 4 and 8 years, well before the onset of the far more pronounced pubertal growth spurt. In this study we used a triple logistic curve-fitting method to fit individual growth curves to serial stature data from 579 healthy participants in the Fels Longitudinal Study, 479 of whom have been genotyped for about 400 short tandem repeat (STR) markers spanning the genome. We categorized individuals according to the presence or absence of a midchildhood growth spurt and then conducted heritability and genome-wide linkage analyses on the dichotomous trait. In the total sample of 579 individuals, 336 (58%) were found to have evidence of having had a midchildhood growth spurt. There was a marked sex difference in presence of the midchildhood growth spurt, however, with 232 of the 293 males (79%) having had a midchildhood growth spurt but just 104 of the 286 females (36%) having had one. Presence of a midchildhood growth spurt was found to have a significant heritability of 0.37 +/- 0.14 (p = 0.003). Two quantitative trait loci with suggestive LOD scores were found: one at 12 cM on chromosome 17p13.2 (LOD = 2.13) between markers D17S831 and D17S938 and one at 85 cM on chromosome 12q14 (LOD = 2.06) between markers D12S83 and D12S326.
生长是一个复杂的过程,在儿童时期由不同阶段组成。尽管青春期生长突增受到了生长学家和儿科医生的最多关注,但儿童中期生长突增的研究较少。儿童中期生长突增是指在部分(但不一定是所有)儿童早期到中期观察到的生长速度相对较小的增加。如果存在儿童中期生长突增,通常发生在4至8岁之间,远早于更为显著的青春期生长突增开始之前。在本研究中,我们使用三重逻辑曲线拟合方法,将个体生长曲线拟合到来自费尔斯纵向研究的579名健康参与者的系列身高数据,其中479人已针对跨越基因组的约400个短串联重复序列(STR)标记进行了基因分型。我们根据是否存在儿童中期生长突增对个体进行分类,然后对该二分性状进行遗传力和全基因组连锁分析。在579名个体的总样本中,发现336人(58%)有儿童中期生长突增的证据。然而,儿童中期生长突增的存在存在明显的性别差异,293名男性中有232人(79%)有儿童中期生长突增,而286名女性中只有104人(36%)有。发现儿童中期生长突增的存在具有显著的遗传力,为0.37±0.14(p = 0.003)。发现了两个具有提示性LOD分数的数量性状位点:一个在17号染色体p13.2上12 cM处(LOD = 2.13),位于标记D17S831和D17S938之间;另一个在12号染色体q14上85 cM处(LOD = 2.06),位于标记D12S83和D12S326之间。