ArticleReproductive medicine and biology
Feasibility of SNP Genotyping Using Dried Blood Spot Samples Collected in an Epidemiological Study and Its Integration With Genetic Risk Analysis for Endometriosis.
Article in Reproductive medicine and biology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Approaches to Thoroughbred Horse Identification in Diverse Sample Types Using Multiplexed SNP-PCR Sequencing Panels.Animal genetics · 2026Article
- Feasibility of SNP Genotyping Using Dried Blood Spot Samples Collected in an Epidemiological Study and Its Integration With Genetic Risk Analysis for Endometriosis.Reproductive medicine and biologyArticle
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9 authors.
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Abstract
Purpose: This study evaluated the feasibility of single-nucleotide polymorphism (SNP) genotyping using dried blood spot (DBS) samples stored under various conditions, based on the genotyping success rate and concordance with whole blood results. It also examined associations between selected SNPs and endometriosis risk in Japanese women. Methods: DBS samples from 41 cohort participants and 28 hospital patients were used to assess genotyping feasibility. Five endometriosis-associated SNPs-rs10965235, rs12700667, rs12024204, rs16826658, and rs801112-were genotyped in 37 cases and 144 controls. Genotype distributions were evaluated for Hardy-Weinberg equilibrium (HWE) using Pearson's Results: SNP genotyping for rs12700667 showed 100% success and complete concordance between DBS and whole blood samples under all storage conditions. Four of five SNPs met HWE, while rs10965235 significantly deviated from it ( Conclusions: DBS is a robust DNA source for SNP genotyping under various conditions and suitable for mail-based epidemiological studies. Population-specific validation is essential when applying GWAS findings.
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