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An SNP of the ZBTB 38 gene is associated with idiopathic short stature in the Chinese Han population
Author(s) -
Wang Ying,
Wang Zhimin,
Teng Yuechun,
Shi Jinxiu,
Wang Haifeng,
Yuan Wentao,
Chu Xun,
Wang Defen,
Wang Wei,
Huang Wei
Publication year - 2013
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.12145
Subject(s) - snp , allele , genotype , genetics , idiopathic short stature , biology , genetic association , population , allele frequency , single nucleotide polymorphism , medicine , gene , endocrinology , growth hormone , environmental health , hormone
Summary Objective Idiopathic short stature ( ISS ) refers to extreme short stature without any diagnostic explanation. Recently, three genome‐wide association studies discovered associations between the ZBTB 38 and adult height in different populations. Therefore, variations in the ZBTB 38 might contribute to ISS . Furthermore, one study in Korean population showed that ZBTB 38 gene was significantly associated with adult height, but not with ISS . We want to examine whether the variants in ZBTB 38 are associated with ISS in Chinese Han. Methods A case–control association study was performed in 268 ISS patients and 513 healthy controls from Chinese Han population. Fourteen tag SNP s were selected and genotyped using SNaPshot method. Furthermore, expression of m RNA was quantified by RT ‐q PCR , and assessment of allelic expression imbalance was conducted with SNaPshot method. Results Seven ZBTB 38 SNP s were significantly associated with ISS by allele tests ( rs724016 , rs1582874 , rs11919556 , rs6440006 , rs7612543 , rs62282002 , rs18651435 ). And five loci were associated with ISS according to genotype ( rs11919556 , rs16851419 , rs6440006 , rs62282002 , rs18651435 ). Notably, after applying the stringent Bonferroni correction for multiple testing, one SNP , rs16851435 , remained significantly associated by allele and genotype ( P = 5·30 × 10 −4 for allele and P = 0·002 for genotype). Furthermore, the rs16851435 alleles were investigated association with ZTBT 38 m RNA expression levels. The G allele showed a higher transcriptional activity than the T allele ( P = 0·002). Conclusions Our study indicated that the nonsynonymous SNP ( rs16851435 :T > G,p.Ser319Ala) of ZBTB 38 was contributed to susceptibility of ISS in the Chinese Han population.