{"title":"流行病学研究中采集的干血斑样本SNP基因分型的可行性及其与子宫内膜异位症遗传风险分析的整合。","authors":"Yoshikazu Kitahara, Yuki Ideno, Kensaku Tomiyoshi, Yoko Onizuka, Kazue Nagai, Akira Iwase, Junko Shimada, Hiroshi Ohnishi, Kunihiko Hayashi","doi":"10.1002/rmb2.12675","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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 <i>χ</i> <sup>2</sup> test or, when appropriate, Fisher's exact test, with a significance threshold of <i>p</i> < 0.05. Fisher's exact test was used for association analysis.</p><p><strong>Results: </strong>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 (<i>p</i> = 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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":21116,"journal":{"name":"Reproductive Medicine and Biology","volume":"24 1","pages":"e12675"},"PeriodicalIF":3.3000,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12421651/pdf/","citationCount":"0","resultStr":"{\"title\":\"Feasibility of SNP Genotyping Using Dried Blood Spot Samples Collected in an Epidemiological Study and Its Integration With Genetic Risk Analysis for Endometriosis.\",\"authors\":\"Yoshikazu Kitahara, Yuki Ideno, Kensaku Tomiyoshi, Yoko Onizuka, Kazue Nagai, Akira Iwase, Junko Shimada, Hiroshi Ohnishi, Kunihiko Hayashi\",\"doi\":\"10.1002/rmb2.12675\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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 <i>χ</i> <sup>2</sup> test or, when appropriate, Fisher's exact test, with a significance threshold of <i>p</i> < 0.05. Fisher's exact test was used for association analysis.</p><p><strong>Results: </strong>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 (<i>p</i> = 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.</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":21116,\"journal\":{\"name\":\"Reproductive Medicine and Biology\",\"volume\":\"24 1\",\"pages\":\"e12675\"},\"PeriodicalIF\":3.3000,\"publicationDate\":\"2025-09-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12421651/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Reproductive Medicine and Biology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/rmb2.12675\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reproductive Medicine and Biology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/rmb2.12675","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
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 χ2 test or, when appropriate, Fisher's exact test, with a significance threshold of p < 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 (p = 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.
期刊介绍：
Reproductive Medicine and Biology (RMB) is the official English journal of the Japan Society for Reproductive Medicine, the Japan Society of Fertilization and Implantation, the Japan Society of Andrology, and publishes original research articles that report new findings or concepts in all aspects of reproductive phenomena in all kinds of mammals. Papers in any of the following fields will be considered: andrology, endocrinology, oncology, immunology, genetics, function of gonads and genital tracts, erectile dysfunction, gametogenesis, function of accessory sex organs, fertilization, embryogenesis, embryo manipulation, pregnancy, implantation, ontogenesis, infectious disease, contraception, etc.
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