Association between CAPN10 UCSNP-43 gene polymorphism and polycystic ovary syndrome in Chilean women.
BACKGROUND
Studies have suggested that the Calpain-10 gene polymorphisms may play a role in polycystic ovary syndrome (PCOS) susceptibility. Thus, the aim of the present study was to evaluate the possible association between three single nucleotide polymorphisms (SNPs) in the calpain-10 gene (UCSNPs -43, -19, and -63) and polycystic ovary syndrome (PCOS) in Chilean women.


METHODS
Fifty women with PCOS (28.8+/-8.2 y) and 70 healthy women (28.6+/-8.6 y) were included in this study. Serum lipids, hormonal status, fasting glucose, oral glucose tolerance test (OGTT), insulin, HOMAIR, and uric acid levels were determined by conventional methods. The calpain-10 gene variants were detected by PCR and PCR-RFLP, respectively.


RESULTS
The presence of uncommon allele (A) for the UCSNP-43 was associated with increased risk of PCOS (odds ratio=1.93, 95% CI: 1.11-3.34). The UCSNP-63 (OR=1.11, 95% CI: 0.59-2.11) and UCSNP-19 (OR=0.93, 95% CI: 0.55-1.57) were not associated to PCOS. However, the PCOS women carrying the CC genotype for UCSNP-63 exhibited higher values of total cholesterol and LDL-C (P<0.05). Similarly, control women carrying the CC genotype showed higher serum levels of triglycerides, HDL-C and uric acid (P<0.05).


CONCLUSIONS
Our data suggest the contribution of CAPN10 UCSNP-43 gene polymorphism to PCOS in Chilean women. However, further studies with larger samples are necessary to confirm this observation.
Márquez
José Luis
JL
Laboratorio de Biología Molecular and Farmacogenética, Departamento de Ciencias Básicas, Facultad de Medicina, Universidad de La Frontera, Av. Francisco Salazar 01145, Casilla 54-D, Temuco, Chile.
Pacheco
Alejandro
A
Valdés
Patricio
P
Salazar
Luis A
LA
D000293:Adolescent; D000328:Adult; D000483:Alleles; D001786:Blood Glucose / Q000378:metabolism; D002154:Calpain / Q000235:genetics*; D002677:Chile / Q000453:epidemiology; D002784:Cholesterol / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005951:Glucose Tolerance Test; D006728:Hormones / Q000097:blood; D006801:Humans; D007328:Insulin / Q000097:blood; D008055:Lipids / Q000097:blood; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology* / Q000235:genetics*; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012306:Risk; D014527:Uric Acid / Q000097:blood; D055815:Young Adult
D001786:Blood Glucose; D008078:Cholesterol, LDL; D006728:Hormones; D007328:Insulin; D008055:Lipids; D014527:Uric Acid; D004247:DNA; D002784:Cholesterol; D002154:Calpain; C415197:calpain 10