RGD Reference Report - PROGINS Alu sequence insertion is associated with hyperprolactinaemia but not leiomyoma susceptibility. - Rat Genome Database

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

Authors: Hsieh, YY  Chan, IP  Wang, HI  Chang, CC  Huang, CW  Lin, CS 
Citation: Hsieh YY, etal., Clin Endocrinol (Oxf). 2005 Apr;62(4):492-7.
RGD ID: 1601278
Pubmed: PMID:15807882   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1365-2265.2005.02251.x   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PGRHumanhyperprolactinemia susceptibilityIAGP  RGD 
PgrRathyperprolactinemia susceptibilityISOPGR (Homo sapiens) RGD 
PgrMousehyperprolactinemia susceptibilityISOPGR (Homo sapiens) RGD 
PGRHumanleiomyoma no_associationIAGP  RGD 
PgrRatleiomyoma no_associationISOPGR (Homo sapiens) RGD 
PgrMouseleiomyoma no_associationISOPGR (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pgr  (progesterone receptor)

Genes (Mus musculus)
Pgr  (progesterone receptor)

Genes (Homo sapiens)
PGR  (progesterone receptor)


Additional Information