open access

Vol 66, No 3 (2015)
Original papers
Published online: 2015-07-01
Submitted: 2014-09-04
Accepted: 2014-12-09
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Dense mapping of the region of insulin gene VNTR in polycystic ovary syndrome in a population of women from Central Europe

Redha Attaoua, Nelly Boeckler, Serban Radian, Samira Ait El Mkadem, Patrick Poucheret, Violaine Latapie, Monica Gheorghiu, Simona Fica, Madalina Vintila, Christophe Normand, Mihail Coculescu, Florin Grigorescu
DOI: 10.5603/EP.2015.0026
·
Endokrynologia Polska 2015;66(3):198-206.

open access

Vol 66, No 3 (2015)
Original papers
Published online: 2015-07-01
Submitted: 2014-09-04
Accepted: 2014-12-09

Abstract

Introduction: Insulin gene VNTR was associated with polycystic ovary syndrome (PCOS) in some studies but not in others. This couldb be due to the heterogeneity of the definition of PCOS and/or the use of inappropriate gene mapping strategies.
Material and methods: In this investigation, the association of VNTR with PCOS was explored in a population of women from Central Europe (377 cases and 105 controls) in whom PCOS was diagnosed according to Rotterdam criteria. Seven SNPs: rs3842756 (G/A), rs3842755 (G/T), rs3842754 (C/T), rs3842753 (A/C), rs3842752 (C/T), rs3842748 (G/C), and rs689 (T/A) were genotyped in a portion of the population (160 cases and 95 controls) by sequencing or by SSO-PCR. Analysis of linkage disequilibrium (LD) pattern allowed selecting three tagSNPs (rs3842754, rs3842748, and rs689), which were genotyped in the rest of the population by KASPar.
Results: Six haplotypes were reconstructed, among which three (h1, h2 and h6) were more frequent. Statistical analysis allowed observation of the association of the SNP rs3842748, through its GC genotype, with obesity in PCOS (P = 0.049; OR CI95% 1,59 [1.00–2.51]) and in classical PCOS (YPCOS) (P = 0.010), as well as the correlation of the SNP rs689 and the pair of haplotypes h1/h1 with higher levels of testosteronaemia in the PCOS group, although this was at the limit of significance (P = 0.054)
Conclusion: These results are in accordance with some studies in literature and highlight the role of insulin gene VNTR in complex metabolic disorders. (Endokrynol Pol 2015; 66 (3): 198–206)

Abstract

Introduction: Insulin gene VNTR was associated with polycystic ovary syndrome (PCOS) in some studies but not in others. This couldb be due to the heterogeneity of the definition of PCOS and/or the use of inappropriate gene mapping strategies.
Material and methods: In this investigation, the association of VNTR with PCOS was explored in a population of women from Central Europe (377 cases and 105 controls) in whom PCOS was diagnosed according to Rotterdam criteria. Seven SNPs: rs3842756 (G/A), rs3842755 (G/T), rs3842754 (C/T), rs3842753 (A/C), rs3842752 (C/T), rs3842748 (G/C), and rs689 (T/A) were genotyped in a portion of the population (160 cases and 95 controls) by sequencing or by SSO-PCR. Analysis of linkage disequilibrium (LD) pattern allowed selecting three tagSNPs (rs3842754, rs3842748, and rs689), which were genotyped in the rest of the population by KASPar.
Results: Six haplotypes were reconstructed, among which three (h1, h2 and h6) were more frequent. Statistical analysis allowed observation of the association of the SNP rs3842748, through its GC genotype, with obesity in PCOS (P = 0.049; OR CI95% 1,59 [1.00–2.51]) and in classical PCOS (YPCOS) (P = 0.010), as well as the correlation of the SNP rs689 and the pair of haplotypes h1/h1 with higher levels of testosteronaemia in the PCOS group, although this was at the limit of significance (P = 0.054)
Conclusion: These results are in accordance with some studies in literature and highlight the role of insulin gene VNTR in complex metabolic disorders. (Endokrynol Pol 2015; 66 (3): 198–206)

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Keywords

minisatellite; gene; PCOS; insulin; SNP

About this article
Title

Dense mapping of the region of insulin gene VNTR in polycystic ovary syndrome in a population of women from Central Europe

Journal

Endokrynologia Polska

Issue

Vol 66, No 3 (2015)

Pages

198-206

Published online

2015-07-01

DOI

10.5603/EP.2015.0026

Bibliographic record

Endokrynologia Polska 2015;66(3):198-206.

Keywords

minisatellite
gene
PCOS
insulin
SNP

Authors

Redha Attaoua
Nelly Boeckler
Serban Radian
Samira Ait El Mkadem
Patrick Poucheret
Violaine Latapie
Monica Gheorghiu
Simona Fica
Madalina Vintila
Christophe Normand
Mihail Coculescu
Florin Grigorescu

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