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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.10
- 수록면
- 1,105 - 1,117 (13page)
- DOI
- 10.1007/s13258-021-01134-8
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이 논문의 연구 히스토리 (2)
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초록· 키워드
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Background Blood insulin level is an important risk factor for numerous disorders. Individual blood insulin level is known to be substantially infuenced by genetic factors. Several genetic association studies identifed a number of genetic variants for blood insulin level, but none of them was from a sex-stratifed population.
Objective This study aimed to identify male- and female-specifc genetic variants related to blood insulin level and to evaluate the causal relationship between blood insulin level and polycystic ovary syndrome (PCOS) that is likely caused by high insulin in Korean women.
Methods A genome-wide association study was conducted to identify genetic variants infuencing blood insulin level in males (N=4183) and females (N=4659) in the Korean population. Two-sample Mendelian randomization (MR) analysis was used to investigate the causal efects of the insulin variants identifed from GWAS on PCOS in Korean women. Genetic association data for PCOS were obtained from a PCOS study cohort (946 cases, 976 controls) in Ewha Womans University Hospital.
Results GWAS linear regression analysis identifed 13 female-specifc SNPs and 13 male-specifc SNPs showing suggestive associations (P< 10?5) with blood insulin level. The results from two-sample MR analysis using the GWAS variants for PCOS indicated that genetically determined insulin level was not associated with the risk of PCOS in Korean women.
Conclusion This study identifed sex-specifc genetic variants showing associations with insulin for the frst time in East Asian populations. In addition, MR analysis using variants discovered from Korean women revealed that genetically determined high level of insulin is not the cause of PCOS.
목차
등록된 정보가 없습니다.
참고문헌 (39)
참고문헌 신청
Ban M / 2010 / A non-synonymous SNP within membrane metalloendopeptidase-like 1(MMEL1)is associated with multiple sclerosis / Genes Immun 11:660~664
Chen G / 2012 / Genomewide association study identifes novel loci association with fasting insulin and insulin resistance in African Americans / Hum Mol Genet 21:4530~4536
Chen LY / 2013 / Molecular basis of telomere syndrome caused by CTC1 mutations / Genes Dev 27:2099~2108
Cho YS / 2009 / A large-scale genome-wide association study of Asian populations uncovers genetic factors infuencing eight quantitative traits / Nat Genet 41:527~534
Consortium G / 2017 / Genetic efects on gene expression across human tissues / Nature 550:204~213
Chen G / 2012 / Genomewide association study identifes novel loci association with fasting insulin and insulin resistance in African Americans / Hum Mol Genet 21:4530~4536
Chen LY / 2013 / Molecular basis of telomere syndrome caused by CTC1 mutations / Genes Dev 27:2099~2108
Cho YS / 2009 / A large-scale genome-wide association study of Asian populations uncovers genetic factors infuencing eight quantitative traits / Nat Genet 41:527~534
Consortium G / 2017 / Genetic efects on gene expression across human tissues / Nature 550:204~213
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