CAJ | 학술논문

目的：分析中国汉族人群的特发性矮小（ISS）患儿以及正常人群中雌激素受体（ER）基因的多态性，并结合临床资料比较分析，以探讨ISS的可能发病机制。方法对355例ISS患儿和345位正常对照的ER基因的单核苷酸多态性（SNP）进行分型，分析此位点的等位基因频率及基因型频率在两组人群之间的差异。并对不同基因类型的临床指标进行差异分析比较。结果rs6557177 T等位基因病例组较对照组降低，差异有统计学意义（P＝0．021，OR＝0．624）。2种不同基因型的临床指标进行差异分析比较，差异无统计学意义（P＞0．05）。结论 ERα位点rs6557177与ISS相关，此位点等位基因 T可能为矮小的保护性基因，可降低矮小风险。C基因和T基因分组临床指标（身高、体质量、BM I、IGF-1、IGFBP3）分析比较，差别不大。
목적：분석중국한족인군적특발성왜소（ISS）환인이급정상인군중자격소수체（ER）기인적다태성，병결합림상자료비교분석，이탐토ISS적가능발병궤제。방법대355례ISS환인화345위정상대조적ER기인적단핵감산다태성（SNP）진행분형，분석차위점적등위기인빈솔급기인형빈솔재량조인군지간적차이。병대불동기인류형적림상지표진행차이분석비교。결과rs6557177 T등위기인병례조교대조조강저，차이유통계학의의（P＝0．021，OR＝0．624）。2충불동기인형적림상지표진행차이분석비교，차이무통계학의의（P＞0．05）。결론 ERα위점rs6557177여ISS상관，차위점등위기인 T가능위왜소적보호성기인，가강저왜소풍험。C기인화T기인분조림상지표（신고、체질량、BM I、IGF-1、IGFBP3）분석비교，차별불대。
Objective This study was to investigate the association of certain single nucleotide polymorphisms (SNPs) of the ER with genetic susceptibility to ISS .Methods Genomic DNA was extracted from peripheral blood of children with ISS (n=355) and of normal growth and development individuals as controls from Jiangxi province (n=345) .The association between the ER gene polymorphisms with the height-related clinical traits was analysed .Results The allele T of rs6557177 is significantly lower in the ISS group than in the control group(P=0 .021 ,OR=0 .624) .The clinical indexes of two kinds of different genotypes were analyzed and compared ,there was no statistical difference(P>0 .05) .Conclusion The allele T of rs6557177 of ER gene is a protection factor of ISS .C gene and T gene grouping clinical parameters (hight ,weight ,IGF-1 ,IGFBP3 ,E2 and BMI) were analyzed and found no statistically significant difference .