An SNP of the ZBTB38 gene is associated with idiopathic short stature in the Chinese Han population

Clinical Endocrinology

Volumn 79, Issue 3, 2013, Pages 402-408

  Wang, Ying ^a,b   Wang, Zhi Min ^b   Teng, Yue Chun ^a   Shi, Jin Xiu ^b   Wang, Hai Feng ^b   Yuan, Wen Tao ^b   Chu, Xun ^a,b   Wang, De Fen ^a   Wang, Wei ^a   Huang, Wei ^a,b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Shanghai Academy of Science and Technology   (China)

Author keywords

[No Author keywords available]

Indexed keywords

UNCLASSIFIED DRUG; ZBTB38 PROTEIN; ZINC FINGER PROTEIN;

ALLELIC IMBALANCE; ARTICLE; CASE CONTROL STUDY; CHILD; CHINESE; FEMALE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; IDIOPATHIC DISEASE; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84880810938     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12145     Document Type: Article

References (35)

1. Gubitosi-Klug, R.A., &, Cuttler, L., (2005) Idiopathic short stature. Endocrinology and Metabolism Clinics of North America, 34, 565-580, Viii.
2. Bryant, J., Baxter, L., Cave, C.B., et al,. (2007) Recombinant growth hormone for idiopathic short stature in children and adolescents. Cochrane Database Systematic Review, 18, CD004440.
3. Visscher, P.M., Hill, W.G., &, Wray, N.R., (2008) Heritability in the genomics era-concepts and misconceptions. Nature Reviews Genetics, 9, 255-266.
4. Preece, M.A., (1996) The genetic contribution to stature. Hormone Research, 45 (Suppl. 2), 56-58.
5. Rosenfeld, R.G., (2005) The molecular basis of idiopathic short stature. Growth Hormone and IGF Research, 15 (Suppl. A), S3-S5.
6. Silventoinen, K., Sammalisto, S., Perola, M., et al,. (2003) Heritability of adult body height: a comparative study of twin cohorts in eight countries. Twin Research, 6, 399-408.
7. Phillips, K., &, Matheny, A.P. Jr, (1990) Quantitative genetic analysis of longitudinal trends in height: preliminary results from the Louisville Twin Study. Acta geneticae Medicae Et Gemellologiae (Roma), 39, 143-163.
8. Carmichael, C.M., &, McGue, M., (1995) A cross-sectional examination of height, weight, and body mass index in adult twins. Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 50, B237-B244.
9. Luo, Z.C., Albertsson-Wikland, K., &, Karlberg, J., (1998) Target height as predicted by parental heights in a population-based study. Pediatric Research, 44, 563-571.
10. Perola, M., Sammalisto, S., Hiekkalinna, T., et al,. (2007) Combined genome scans for body stature in 6,602 European twins: evidence for common Caucasian loci. PLoS Genetics, 3, e97.
11. Olney, R.C., Bukulmez, H., Bartels, C.F., et al,. (2006) Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. Journal of Clinical Endocrinology and Metabolism, 91, 1229-1232.
12. Blair, J.C., &, Savage, M.O., (2002) The GH-IGF-I axis in children with idiopathic short stature. Trends in Endocrinology and Metabolism, 13, 325-330.
13. Miyake, H., Nagashima, K., Onigata, K., et al,. (1999) Allelic variations of the D2 dopamine receptor gene in children with idiopathic short stature. Journal of Human Genetics, 44, 26-29.
14. Dempfle, A., Wudy, S.A., Saar, K., et al,. (2006) Evidence for involvement of the vitamin D receptor gene in idiopathic short stature via a genome-wide linkage study and subsequent association studies. Human Molecular Genetics, 15, 2772-2783.
15. Leka, S.K., Kitsiou-Tzeli, S., Kalpini-Mavrou, A., et al,. (2006) Short stature and dysmorphology associated with defects in the SHOX gene. Hormones (Athens), 5, 107-118.
16. Gudbjartsson, D.F., Walters, G.B., Thorleifsson, G., et al,. (2008) Many sequence variants affecting diversity of adult human height. Nature Genetics, 40, 609-615.
17. Lettre, G., Jackson, A.U., Gieger, C., et al,. (2008) Identification of ten loci associated with height highlights new biological pathways in human growth. Nature Genetics, 40, 584-591.
18. Weedon, M.N., Lango, H., Lindgren, C.M., et al,. (2008) Genome-wide association analysis identifies 20 loci that influence adult height. Nature Genetics, 40, 575-583.
19. Lei, S.F., Yang, T.L., Tan, L.J., et al,. (2009) Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci. Human Genetics, 125, 1-9.
20. Lango Allen, H., Estrada, K., Lettre, G., et al,. (2010) Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature, 467, 832-838.
21. Kim, J.J., Park, Y.M., Baik, K.H., et al,. (2012) Exome sequencing and subsequent association studies identify five amino acid-altering variants influencing human height. Human Genetics, 131, 471-478.
22. de Bakker, P.I., Burtt, N.P., Graham, R.R., et al,. (2006) Transferability of tag SNPs in genetic association studies in multiple populations. Nature Genetics, 38, 1298-1303.
23. Yan, H., Yuan, W., Velculescu, V.E., et al,. (2002) Allelic variation in human gene expression. Science, 297, 1143.
24. Wang, Z., Li, Y., Wang, B., et al,. (2010) A haplotype of the catalase gene confers an increased risk of essential hypertension in Chinese Han. Human Mutation, 31, 272-278.
25. Woods, K.A., Dastot, F., Preece, M.A., et al,. (1997) Phenotype: genotype relationships in growth hormone insensitivity syndrome. Journal of Clinical Endocrinology and Metabolism, 82, 3529-3535.
26. Woods, K.A., Camacho-Hubner, C., Savage, M.O., et al,. (1996) Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. New England Journal of Medicine, 335, 1363-1367.
27. Kofoed, E.M., Hwa, V., Little, B., et al,. (2003) Growth hormone insensitivity associated with a STAT5b mutation. New England Journal of Medicine, 349, 1139-1147.
28. Lee, M.M., (2006) Clinical practice. Idiopathic short stature. New England Journal of Medicine, 354, 2576-2582.
29. Lewis, M.D., Horan, M., Millar, D.S., et al,. (2004) A novel dysfunctional growth hormone variant (Ile179Met) exhibits a decreased ability to activate the extracellular signal-regulated kinase pathway. Journal of Clinical Endocrinology and Metabolism, 89, 1068-1075.
30. Sanchez, J.E., Perera, E., Baumbach, L., et al,. (1998) Growth hormone receptor mutations in children with idiopathic short stature. Journal of Clinical Endocrinology and Metabolism, 83, 4079-4083.
31. El Kholy, M., Mella, P., Rashad, M., et al,. (2011) Growth hormone/IGF-I axis and growth hormone receptor mutations in idiopathic short stature. Hormone Research in Paediatrics, 76, 300-306.
32. Baumann, G., (1999) Mutations in the growth hormone releasing hormone receptor: a new form of dwarfism in humans. Growth Hormone and IGF Research, 9 (Suppl. B), 24-29; discussion 29-30.
33. Ko, J.M., Park, J.Y., &, Yoo, H.W., (2009) Common exon 3 polymorphism of the GH receptor (GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS). Clinical Endocrinology (Oxford), 70, 82-87.
34. Toyoshima, M.T., Castroneves, L.A., Costalonga, E.F., et al,. (2007) Exon 3-deleted genotype of growth hormone receptor (GHRd3) positively influences IGF-1 increase at generation test in children with idiopathic short stature. Clinical Endocrinology (Oxford), 67, 500-504.
35. Kiefer, H., Chatail-Hermitte, F., Ravassard, P., et al,. (2005) ZENON, a novel POZ Kruppel-like DNA binding protein associated with differentiation and/or survival of late postmitotic neurons. Molecular and Cellular Biology, 25, 1713-1729.