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KMID : 0381120210430101105
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Genes and Genomics
2021 Volume.43 No. 10 p.1105 ~ p.1117
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Identification of genetic variants for blood insulin level in sex-stratified Korean population and evaluation of the causal relationship between blood insulin level and polycystic ovary syndrome
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Lim Woo-Young
Lee Hye-Jin
Cho Yoon-Shin
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Abstract
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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 influenced by genetic factors. Several genetic association studies identified a number of genetic variants for blood insulin level, but none of them was from a sex-stratified population.
Objective: This study aimed to identify male- and female-specific 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 influencing 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 effects of the insulin variants identified 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 identified 13 female-specific SNPs and 13 male-specific SNPs showing suggestive associations (P?
Conclusion: This study identified sex-specific genetic variants showing associations with insulin for the first 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.
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KEYWORD
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Genome-wide association study (GWAS), Genetic variant, Association, Blood insulin level, Polycystic ovary syndrome, Causal relationship, Mendelian randomization (MR)
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