Endometriosis is not associated with or linked to the GALT gene.
OBJECTIVE
To investigate a possible association between the carrier frequency of the N314D mutation in the galactose-1-phosphate uridyl transferase (GALT) gene and endometriosis and linkage to the short arm of chromosome 9, where the GALT gene resides.


METHODS
Association and linkage study.


METHODS
Population material collected for case and family studies in endometriosis.


METHODS
Women diagnosed with endometriosis by laparotomy or laparoscopy.


METHODS
Association with the GALT gene investigated by genotyping 85 affected women and 213 unrelated control women and a scan for linkage to chromosome 9 in 205 women from 64 families with endometriosis.


METHODS
Multipoint parametric lod scores and frequency of alleles.


RESULTS
There was no significant difference in allele frequency for the N314D polymorphism in patients compared with control subjects. No evidence for linkage was found to chromosome 9p, where the GALT gene resides.


CONCLUSIONS
The experiments reported herein provide no evidence supporting involvement of the GALT locus in the development of endometriosis.
Stefansson
H
H
deCODE Genetics, Lynghals 1, 110 Reykjavik, Iceland. hreinn@decode.is
Einarsdottir
A
A
Geirsson
R T
RT
Jonsdottir
K
K
Sverrisdottir
G
G
Gudnadottir
V G
VG
Gunnarsdottir
S
S
Manolescu
A
A
Gulcher
J
J
Stefansson
K
K
D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008126:Lod Score; D018895:Microsatellite Repeats; D011110:Polymorphism, Genetic; D012016:Reference Values; D005694:UTP-Hexose-1-Phosphate Uridylyltransferase / Q000235:genetics*
D005694:UTP-Hexose-1-Phosphate Uridylyltransferase