| Geno
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Mag
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Summary
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| (C;C)
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1
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no association with increased bone density and TSH
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| (C;G)
|
1
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may have higher bone density and lower TSH
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| (G;G)
|
1
|
may have higher bone density and lower TSH
|
[PMID 17803697
] In 2008, "Effects of serum TSH and FT4 levels and the TSHR-Asp727Glu polymorphism rs1991517 on bone: the Rotterdam Study" revealed that carriers of the TSHR-Glu727 variant (the minor allele) "had a 2·3% higher femoral neck BMD (P = 0·03) and a 12·6% lower TSH level (P = 0·04)." The variant was not associated with T4 hormone levels, nor with BMI, nor with fracture risk. Authors cited a 2005 study ([PMID 15650076]) that "demonstrated the presence of TSHR mRNA in human osteoblast cell lines."
[PMID 22147956] A 2011 article "Genetics of thyroid function and disease" reviewed past research. Genome-wide association studies have not shown SNPs in TSHR such as rs1991517 to be associated with TSH concentrations at a high level of significance, but together with two other SNPs in other genes, (PDE8B rs4704397 and CAPZB rs10917469, the three SNPs may account for "4.5% of the variation in TSH concentrations." TSHR gene SNPs have not been associated with T3 and T4 thyroid hormone levels, while deiodinase genes such as DIO1 rs2235544 have been associated with them. The authors also cited articles claiming that the often-studied TSHR polymorphism of rs1991517 was relevant to bone density and insulin resistance.
[PMID 19138047] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
] In 2008, "Effects of serum TSH and FT4 levels and the TSHR-Asp727Glu polymorphism rs1991517 on bone: the Rotterdam Study" revealed that carriers of the TSHR-Glu727 variant (the minor allele) "had a 2·3% higher femoral neck BMD (P = 0·03) and a 12·6% lower TSH level (P = 0·04)." The variant was not associated with T4 hormone levels, nor with BMI, nor with fracture risk. Authors cited a 2005 study ([PMID 15650076]) that "demonstrated the presence of TSHR mRNA in human osteoblast cell lines."
