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PON1‐108 TT and PON1‐192 RR genotypes are more frequently encountered in Greek PCOS than non‐PCOS women, and are associated with hyperandrogenaemia
Author(s) -
Paltoglou George,
Tavernarakis George,
Christopoulos Panagiotis,
Vlassi Margarita,
Gazouli Maria,
Deligeoroglou Efthimios,
Creatsas George,
Mastorakos George
Publication year - 2013
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.12139
Subject(s) - pon1 , paraoxonase , genotype , polycystic ovary , medicine , endocrinology , free androgen index , arylesterase , genotyping , androgen , allele , insulin resistance , biology , insulin , hormone , genetics , oxidative stress , gene
Summary Objective To investigate the frequencies of three paraoxonase ( PON )1 polymorphisms in Greek polycystic ovary syndrome ( PCOS ) and non‐ PCOS women, and their genotypes association with hyperandrogenaemia and insulin resistance. Design Case–control genetic association study. Setting University Hospital Endocrine Unit. Patients A total of 142 PCOS cases (NIH criteria) and 112 controls. Main Outcome Measure Genotyping of the c.–108C>T ( PON 1‐108), the c.163T>A ( PON 1‐55) and the c.575A>G ( PON 1‐192) polymorphisms and measurement of baseline androgen and insulin resistance profile. Results The PON 1‐108 TT and PON 1‐192 RR genotypes were more frequently encountered in the PCOS than in the control group. The PON 1‐192 R allele frequency was greater in the PCOS than in the control group. Comparing the PCOS and the control groups, statistical significances favoured a recessive and a dominant genetic model, respectively, for the single PON 1‐108 T and PON 1‐192 R alleles. Free Androgen Index ( FAI ) levels were higher in patients with PON 1‐108 TT, whereas Testosterone, FAI and Dehydroepiandrosterone sulphate ( DHEAS ) levels were higher in patients with PON 1‐192 RR than patients with the wild or the heterozygous genotype. Conclusions The decreased PON 1 activity‐associated PON 1‐108 TT and the PON 1‐192 RR genotypes are more frequently found in Greek PCOS women and are associated with hyperandrogenaemia. Hyperandrogenaemia must depend also on other genetic factors because the same genotypes were not associated with hyperandrogenaemia in the control group. Through identification of the involved polymorphisms, women with PCOS could potentially have a better therapeutic screening.