No association of endometriosis with galactose-1-phosphate uridyl transferase mutations in a Chinese population

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This study found no significant difference in the prevalence of GALT gene mutations Q188R and N314D between Chinese women with endometriosis and healthy controls.

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Abstract

The linkage between endometriosis and galactose-1-phosphate uridyl transferase gene (GALT) mutations is controversial. In this study, the prevalence of the most common GALT mutations, Q188R and N314D, was assessed in women with endometriosis in a Chinese population. Three hundred twenty five unrelated women with endometriosis were enrolled. Samples of umbilical cord blood obtained from 310 female newborn infants were used as population controls. Genomic DNA isolated from endometriosis patients and controls were subjected to multiple polymerase chain reactions to determine the Q188R and N314D mutations. There was no significant difference in the frequencies of the Q188R and N314D mutations between endometriosis patients and controls. The endometriosis patients were further divided into subgroups of stage III and IV disease, but still no statistically significant differences were observed in the frequency of the Q188R and N314D mutations between any of these groups and the controls. These findings suggest that Q188R and N314D mutations are not likely to be associated with an increased risk of endometriosis among Chinese Women.

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Condition tags

endometriosis

MeSH descriptors

Asian People Endometriosis UDPglucose-Hexose-1-Phosphate Uridylyltransferase Asian People Asian People Case-Control Studies Case-Control Studies Endometriosis Endometriosis Endometriosis Female Female Humans Humans Infant, Newborn Infant, Newborn Mutation Mutation Polymorphism, Genetic Polymorphism, Genetic

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (11)

Cited by (7)

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europepmc
last seen: 2026-10-12T06:17:10.165071+00:00
openalex
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pubmed
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