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Genetic control of pubertal onset : role of polymorphism of LH/CG and GnRH receptor gene

青春期开始的遗传控制：LH/CG 和 GnRH 受体基因多态性的作用

基本信息

批准号：
13670777
负责人：
ITO Yoshiya
金额：
$ 1.34万
依托单位：
Asahikawa Medical College
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2001
资助国家：
日本
起止时间：
2001 至 2002
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-13670777/
关键词：
pubertal onset SNP GnRH receptor LH CG receptor FSH receptor haplotype 思春期発来遺伝的制御

项目摘要

We investigated the association of single nucleotide polymorphisms (SNPs) in gonadotropin releasing hormone receptor (GnRHR), luteinizing hormone/choriogonadotropin receptor (LHCGR), and follicle stimulating hormone receptor (FSHR) genes with pubertal onset. Subjects are those with early and delayed pubertal onset (n=20 and 14, respectively). Information on the SNPs were obtained from the web site of JSNP, a database of Japanese Single Nucleotide Polymorphisms. There are 6 SNPs in the GnRHR, 7 SNPs in the LHCGR, and 25 SNPs in the FSHR gene. Each SNPs were genotyped in the controls (n=16). Two SNPs in the GnRHR gene, 2 SNPs in the LHCGR gene, and 4 SNPs in the FSHR gene, not strongly associated with each others, were selected for haplotype analysis.Haplotype frequencies of the GnRHR gene in the controls are different from those in the subjects with early and delayed pubertal onset. But there are no differences of haplotype frequencies between in the subjects with early and delayed pubertal onset, and also in the LHCGR gene. Haplotype frequencies n the FSHR gene, IMS-JST012841 and IMS-JST022161, were different in the controls and in the subjects with delayed pubertal onset, but the difference was small and did not give us a useful tool for differentiating the timing of pubertal onset.In conclusion, no evidence for definete association of GnRHR, LHCGR, and FSHR gene with pubertal onset was detected using case-control methods.

我们研究了促性腺激素释放激素受体（GnRHR）、促黄体生成激素/绒毛膜促性腺激素受体（LHCGR）和促卵泡激素受体（FSHR）基因的单核苷酸多态性（SNP）与青春期开始的关系。受试者为青春期早发和迟发的受试者（分别为n=20和14）。有关SNP的信息可从日本单核苷酸多态性数据库JSNP网站获得。GnRHR基因有6个SNP，LHCGR基因有7个SNP，FSHR基因有25个SNP。在对照组（n=16）中对每个SNP进行基因分型。在GnRHR基因、LHCGR基因和FSHR基因中分别选择了2个、2个和4个SNP进行单倍型分析，结果显示，GnRHR基因的单倍型频率在正常对照组与青春期早发和青春期迟发组之间存在差异。但在青春期早发型和青春期晚发型人群中，LHCGR基因的单倍型频率无差异。FSHR基因IMS-JST 012841和IMS-JST 022161的单倍型频率在对照组和青春期延迟开始的受试者中存在差异，但差异很小，并且没有为我们提供区分青春期开始时间的有用工具。总之，使用病例对照方法没有检测到GnRHR、LHCGR和FSHR基因与青春期开始存在明确关联的证据。