2007
DOI: 10.1002/dmrr.719
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CYP2R1 (vitamin D 25‐hydroxylase) gene is associated with susceptibility to type 1 diabetes and vitamin D levels in Germans

Abstract: Thus, our findings reveal a novel association of CYP2R1 polymorphisms in patients with type 1 diabetes and with their circulating levels of 25(OH)D3.

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Cited by 158 publications
(141 citation statements)
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“…The former is consistent with liver being the major site of 25-hydroxylation, but its abundance in testis awaits further investigation to decipher the physiological relevance, although it has been linked to male reproduction, testicular cancer, and other testiculopathic conditions (33)(34)(35). Cyp2r1 polymorphisms have been implicated in the variation of circulating 25(OH)D 3 concentrations (36)(37)(38) and as risk factors in type 1 diabetes and multiple sclerosis in humans (39)(40)(41)(42).…”
Section: Discussionmentioning
confidence: 99%
“…The former is consistent with liver being the major site of 25-hydroxylation, but its abundance in testis awaits further investigation to decipher the physiological relevance, although it has been linked to male reproduction, testicular cancer, and other testiculopathic conditions (33)(34)(35). Cyp2r1 polymorphisms have been implicated in the variation of circulating 25(OH)D 3 concentrations (36)(37)(38) and as risk factors in type 1 diabetes and multiple sclerosis in humans (39)(40)(41)(42).…”
Section: Discussionmentioning
confidence: 99%
“…Genetic variants of GC, including the GC-rs4588, rs7041, and rs2282679, have been widely investigated and reported to be associated with the levels of vitamin D across different populations [11,17,19,23,31]. In addition, rs12794714, rs10741657, and rs1993116 of CYP2R1, which maps on the chromosome 11p15.2, were also associated with the levels of vitamin D in previous studies [14,18,19,23]. Totally, 9 SNPs including VDR-rs2228570, rs1544410, rs731236, GC-rs4588, rs7041, rs2282679, CYP2R1-rs12794714, rs10741657and rs1993116, were materials and methods…”
Section: Snp Selection and Genotypingmentioning
confidence: 94%
“…heritability estimates ranging from 23 to 80% [14,15]. Thus, genetic variants in the vitamin D metabolism pathway are widely investigated.…”
mentioning
confidence: 99%
“…В частности, дефицит витамина D 3 и нарушение образования его гормонально активных форм снижает абсорбцию ионизированного кальция в тонком кишечнике, повышает уровень паратгормона и через снижение уровня кальцитонина ведёт к усилению резорбции костной ткани и остеопорозу. Гормонально активная форма витамина D 3 (1,25 [11,12].…”
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