claudiasalerno
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Can someone explain what this means: 1.1 mmol/l (equal to 0.35 SD). It comes from this text which has to do with a gene in the greenlander that makes them genetically predisposed to type 2 diabetes .

4. The p.Arg684Ter nonsense variant TBC1D4 identified in Greenland imposes high effects on glycemic traits

As a part of population-based health surveys, more than 4,000 Greenlanders were investigated in two cohorts, the Inuit Health in Transition (IHIT, n = 2,733) and the Greenland Population Study 1999 (B99, n = 1,331) [8, 9]. In these surveys, T2D-related phenotypes were collected, including data from an oral glucose tolerance test (OGTT) in most individuals. In initial studies to discover specific risk variants associated with T2D and T2D-defining phenotypes, we performed a genetic association study of variation on the MetaboChip [34] in relation to fasting and 2-h plasma glucose and serum insulin during an OGTT. Using data from the IHIT cohort, we discovered an intronic variant in TBC1D4, which was associated with plasma glucose and serum insulin 2 h after an oral glucose load, and we were able to replicate these associations in the B99 cohort [35]. Exome sequencing in a As a part of population-based health surveys, more than 4,000 Greenlanders were investigated in two cohorts, the Inuit Health in Transition (IHIT, n = 2,733) and the Greenland Population Study 1999 (B99, n = 1,331) [8, 9]. In these surveys, T2D-related phenotypes were collected, including data from an oral glucose tolerance test (OGTT) in most individuals. In initial studies to discover specific risk variants associated with T2D and T2D-defining phenotypes, we performed a genetic association study of variation on the MetaboChip [34] in relation to fasting and 2-h plasma glucose and serum insulin during an OGTT. Using data from the IHIT cohort, we discovered an intronic variant in TBC1D4, which was associated with plasma glucose and serum insulin 2 h after an oral glucose load, and we were able to replicate these associations in the B99 cohort [35]. Exome sequencing in a small subset of the population revealed that the identified associated variant was in high LD with a nonsense TBC1D4 p.Arg684Ter variant not included in the MetaboChip [35]. After genotyping of the TBC1D4 p.Arg684Ter variant in both cohorts, we showed that it was almost certainly the causal variant, and that it mainly imposes increased phenotypic values for homozygous carriers. Approximately 4% of the Greenlanders have two copies of p.Arg684Ter. On average, these individuals had 3.8 mmol/l higher 2-h plasma glucose and 160 pmol/l higher 2-h serum insulin during the OGTT.

interestingly, the effect of TBC1D4 p.Arg684 Ter observed on 2-h plasma glucose―1.1 mmol/l (equal to 0.35 SD) per allele in an additive model and 3.8 mmol/l (equal to 1.2 SD) in a recessive model―is higher than previously reported for common variants on complex traits and several times higher than previously seen for 2-h plasma glucose. Figure ​Figure11 compares the effect of TBC1D4 with variants previously reported for 2-h plasma glucose in European ancestry individuals [19, 36], and shows that the effect of the TBC1D4 nonsense variant is approximately 10- and 40-fold higher than previously established 2-h plasma glucose loci in an additive and a recessive model, respectively.
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nexttime
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mmol/l is the standard measure of glucose concentration in the blood. SD is standard deviation.
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