...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Annals of Human Genetics >Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight.
【24h】

Three common intronic variants in the maternal and fetal thiamine pyrophosphokinase gene (TPK1) are associated with birth weight.

机译：母体和胎儿硫胺素焦磷酸激酶基因（TPK1）中的三种常见内含子变异与出生体重有关。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Extreme variations in birth weight increase immediate postnatal mortality and morbidity, and are also associated with the predisposition to metabolic diseases in late adulthood. Birth weight in humans is influenced by yet unknown genetic factors. Since the 7q34-q35 region showed linkage with birth weight in a recent human genome scan (p = 8.10(-5)), this study investigated the TPK1 (thiamine pyrophosphokinase) gene locus, located in 7q34-36. Having found no coding variants in the TPK1 gene, we genotyped 43 non coding SNPs spanning a region of 420kb, and used the QTDT method to test their association with birth weight in 964 individuals from 220 families of European ancestry. Family-based tests detected association of 8 SNPs with birth weight (p<0.008), but after correction for multiple tests only rs228581 C/T (p = 0.03), rs228582 A/G (p = 0.04) and rs228584 C/T (p = 0.03) were still associated with birth weight, as well as their T-A-T haplotype (p = 0.03). In addition, we found an association between maternal rs228584 genotype and offspring birth weight (p = 0.027). These observations suggest that genomic variations in the fetal and maternal TPK1 gene could contribute to the variability of birth weight in normal humans.
机译：出生体重的极端变化会增加出生后的即时死亡率和发病率，并且还与成年后期易患代谢性疾病有关。人类的出生体重受未知的遗传因素影响。由于在最近的人类基因组扫描中7q34-q35区显示出与出生体重相关（p = 8.10（-5）），因此本研究调查了7q34-36中的TPK1（硫胺素焦磷酸激酶）基因位点。在TPK1基因中未发现任何编码变异后，我们对43个非编码SNP进行了基因分型，跨越了420kb区域，并使用QTDT方法测试了来自220个欧洲血统的964个个体的出生体重。基于家庭的测试检测到8个SNP与出生体重之间的关联（p <0.008），但经过多次测试的校正后，仅rs228581 C / T（p = 0.03），rs228582 A / G（p = 0.04）和rs228584 C / T（ p = 0.03）仍与出生体重及其TAT单倍型相关（p = 0.03）。此外，我们发现母亲rs228584基因型与后代出生体重之间存在关联（p = 0.027）。这些观察结果表明，胎儿和母体TPK1基因的基因组变异可能会导致正常人的出生体重变异。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号