Feasibility of SNP Genotyping Using Dried Blood Spot Samples Collected in an Epidemiological Study and Its Integration With Genetic Risk Analysis for Endometriosis.

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 test or, when appropriate, Fisher's exact test, with a significance threshold of  < 0.05. Fisher's exact test was used for association analysis.

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 ( = 0.0225). The CC genotype of rs10965235 was potentially associated with lower endometriosis risk (odds ratio: 0.19), although this was not statistically significant after correction.

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.