PROGINS Alu sequence insertion is associated with hyperprolactinaemia but not leiomyoma susceptibility

• Published in: Clinical endocrinology (Oxford) 2005-04, Vol.62 (4), p.492-497
• Main Authors: Hsieh, Yao-Yuan, Chan, Ian-Pan, Wang, Hsin-I., Chang, Chi-Chen, Huang, Ching-Wei, Lin, Chich-Sheng
• Format: Article
• Language: English
• Subjects: Adult; Alleles; Alu Elements; Asian Continental Ancestry Group; Biological and medical sciences; Case-Control Studies; Endocrinopathies; Female; Fundamental and applied biological sciences. Psychology; Genetic Predisposition to Disease; Genotype; Humans; Hyperprolactinemia - ethnology; Hyperprolactinemia - genetics; Hypothalamus. Hypophysis. Epiphysis (diseases); Leiomyoma - ethnology; Leiomyoma - genetics; Medical sciences; Non tumoral diseases. Target tissue resistance. Benign neoplasms; Polymorphism, Genetic; Receptors, Progesterone - genetics; Taiwan; Uterine Neoplasms - ethnology; Uterine Neoplasms - genetics; Vertebrates: endocrinology
• ISSN: 0300-0664; 1365-2265
• DOI: 10.1111/j.1365-2265.2005.02251.x

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.