Browsing by Author "Tancic, Milina (25121743400)"

Objective To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs3108910; and one SNP each in HK3 (rs2278493), ESR1 (rs2234693) and BRSK1 (rs12611091) - are associated with premature ovarian failure (POF) in a different ethnic group (Serbian). Design Case-control genetic association study in 197 Serbian POF cases and 552 matched controls. Results None of the SNPs found associated with POF in Chinese cohort were found to be associated in the Serbian sample. Conclusions In contrast to Han Chinese, no association was found between POF in Serbian women and any of the four tested loci: 8q22.3, HK3, ESR1 and BRSK1. This indicates that ethnically distinct populations may show differences in gene-regulating pathways and genes causing POF. © 2013 Elsevier Ireland Ltd.

Objective To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs3108910; and one SNP each in HK3 (rs2278493), ESR1 (rs2234693) and BRSK1 (rs12611091) - are associated with premature ovarian failure (POF) in a different ethnic group (Serbian). Design Case-control genetic association study in 197 Serbian POF cases and 552 matched controls. Results None of the SNPs found associated with POF in Chinese cohort were found to be associated in the Serbian sample. Conclusions In contrast to Han Chinese, no association was found between POF in Serbian women and any of the four tested loci: 8q22.3, HK3, ESR1 and BRSK1. This indicates that ethnically distinct populations may show differences in gene-regulating pathways and genes causing POF. © 2013 Elsevier Ireland Ltd.

Objective To investigate whether gene variants of SOHLH1 exist in Chinese and Serbian patients with primary ovarian insufficiency (POI). Design Case-control genetic study. Setting University hospitals. Patient(s) A total of 364 Han Chinese and 197 Serbian women with nonsyndromic POI and ethnically matched controls. Intervention(s) None. Main Outcome Measure(s) SOHLH1 gene sequencing. Result(s) We found 10 novel heterozygous variants in our cohorts of 561 women with POI but none in the 600 ethnically matched controls. Statistical and bioinformatic analyses indicated that three of the eight variants in Chinese POI cases are potentially disease causing. They comprise two missense variants (p.Ser317Phe and p.Glu376Lys) that might each change activity of the SOHLH1 protein as a transcription factor and one variant (c.∗118C>T) located in the 3′ untranslated region of the SOHLH1 gene, which might generate a new binding site for the microRNA hsa-miR-888-5p. Of the two variants in the Serbian POI cases, both were synonymous, and no missense variant was identified. The allele frequencies of some known single-nucleotide polymorphisms were statistically significantly different between patients and controls in both the Chinese and Serbian groups. Conclusion(s) Our results suggest that SOHLH1 may be regarded as a new candidate gene for POI. © 2015 American Society for Reproductive Medicine.