Low P S, Saha N, Tay J S, Arulkumaran S
Department of Paediatrics, National University of Singapore.
Pediatr Res. 1998 Feb;43(2):240-4. doi: 10.1203/00006450-199802000-00014.
The influence of the PvuII polymorphism (intron 6) of the lipoprotein lipase (LPL) gene on cord plasma lipid traits was studied in 252 ethnic Chinese and 240 ethnic Indian newborns of Singapore. The allelic frequencies of P+ (presence of the restriction site) were 0.67 and 0.56 in the Chinese and Indian newborns, respectively, similar to their respective adult populations. The genotype distributions at the PvuII site were at Hardy Weinberg equilibrium in both ethnic Chinese (chi2 = 2.0) and ethnic Indians (chi2 = 3.6). Cord blood HDL-cholesterol (HDL-C) levels are higher in newborn Chinese than newborn Indians. In addition, cord blood LDL-cholesterol (LDL-C), apoB, and lipoprotein(a) levels are lower in newborn Chinese than newborn Indians. Both newborn Chinese and Indian male homozygotes for P- allele have higher cord blood LDL-C levels than newborns with the more common P+P+ or P-P+ genotypes. In Chinese male newborns, the LDL-C levels were 0.76 +/- 0.61 mmol/L, 0.53 +/- 0.29 mmol/L and 0.46 +/- 0.25 mmol/L, respectively (p = 0.01). In Indian male newborns, the LDL-C levels were 0.88 +/- 0.35 mmol/L for the P-P- genotype and 0.65 +/- 0.24 mmol/L for the P+P+ genotype (p = 0.003). In addition, the influence of the P- allele on LDL-C levels is remarkably similar in both ethnic groups, accounting for 8.48% of the population variance in the Chinese newborns and 8.09% in the Indian newborns. In contrast, no obvious effect of genotype is seen in this lipid parameter in the newborn females of either ethnic groups. There is presence of significant genotype specific influence on the LDL-C levels in cord plasma in male newborns, suggesting an early expression of the LPL gene locus.
在新加坡的252名华裔新生儿和240名印度裔新生儿中，研究了脂蛋白脂肪酶（LPL）基因的PvuII多态性（内含子6）对脐血血脂性状的影响。P +（存在限制性位点）的等位基因频率在华裔新生儿和印度裔新生儿中分别为0.67和0.56，与各自的成年人群相似。PvuII位点的基因型分布在华裔（χ2 = 2.0）和印度裔（χ2 = 3.6）中均处于Hardy Weinberg平衡。华裔新生儿的脐血高密度脂蛋白胆固醇（HDL-C）水平高于印度裔新生儿。此外，华裔新生儿的脐血低密度脂蛋白胆固醇（LDL-C）、载脂蛋白B和脂蛋白（a）水平低于印度裔新生儿。P-等位基因的华裔和印度裔男性纯合子的脐血LDL-C水平均高于具有更常见的P + P +或P - P +基因型的新生儿。在华裔男性新生儿中，LDL-C水平分别为0.76±0.61 mmol/L、0.53±0.29 mmol/L和0.46±0.25 mmol/L（p = 0.01）。在印度裔男性新生儿中，P - P - 基因型的LDL-C水平为0.88±0.35 mmol/L，P + P +基因型的为0.65±0.24 mmol/L（p = 0.003）。此外，P-等位基因对LDL-C水平的影响在两个种族群体中非常相似，在华裔新生儿中占群体方差的8.48%，在印度裔新生儿中占8.09%。相比之下，在任何一个种族群体的新生儿女性中，该脂质参数均未观察到明显的基因型效应。男性新生儿的脐血血浆中LDL-C水平存在显著的基因型特异性影响，提示LPL基因位点的早期表达。
