Premium
PROGINS Alu sequence insertion is associated with hyperprolactinaemia but not leiomyoma susceptibility
Author(s) -
Hsieh YaoYuan,
Chan IanPan,
Wang HsinI.,
Chang ChiChen,
Huang ChingWei,
Lin ChichSheng
Publication year - 2005
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/j.1365-2265.2005.02251.x
Subject(s) - genotype , endocrinology , medicine , allele , hyperprolactinaemia , leiomyoma , allele frequency , biology , uterine leiomyoma , gene , hormone , genetics , uterus , pathology , prolactin
Summary Objective Leiomyoma and hyperprolactinaemia are both progesterone‐dependent diseases. Hormone‐related genes, such as the progesterone receptor (PGR), might be involved in their pathogenesis. Design and measurements Subjects were divided into three groups: (i) leiomyoma ( n = 120); (ii) hyperprolactinaemia ( n = 101); (iii) normal controls ( n = 140). We investigated the Alu (306‐bp DNA) insertion in intron G of the PGR gene in all individuals. PGR gene polymorphisms [T1 (wild‐type); T2 (PROGINS, with Alu insertion)] were determined by PCR and electrophoresis. Genotype and allele frequencies of the PROGINS in each group were detected and compared. Results We observed no significant difference of the PGR*T1/T2 genotypes and allele frequencies between leiomyoma and other two groups. The proportions of T1 homozygote/heterozygote/T2 homozygote in each group were (i) 90/8·3/1·7%; (ii) 84·2/9·9/5·9%; (iii) 92·9/6·4/0·7%. In contrast, a higher percentage of T2‐related genotype and allele were noted in hyperprolactinaemic women compared to other two groups. The proportions of T1/T2 alleles in each group were: (i) 94·2/5·8%; (ii) 89·1/10·9%; (iii) 96·1/3·9%. Conclusions The PROGIN*T2‐related genotype and allele are related to a higher susceptibility to hyperprolactinaemia. The PROGINS polymorphism is not associated with leiomyoma development.