Association studies between type 1 (insulin-dependent) diabetes and 27 genetic markers: Lack of association between type 1 diabetes and kidd blood group

Hodge, Susan E.; Anderson, Carol E.; Neiswanger, Katherine; Rubin, Rachel; Rs, Sparkes; Sparkes, Maryellen C.; Crist, Michol; Spence, M. Anne; Terasaki, Paul I.; Rimoin, David L.; Rotter, Jerome I.

doi:10.1007/bf00253199

Cited by 15 publications

(8 citation statements)

References 20 publications

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“…In whites, only one study found an association between the DBP polymorphisms and the risk of type 1 diabetes (13). As the association had only nominal significance and that disappeared after adjustment for multiple comparisons, the finding may have been a false positive (type 1 error).…”

Section: Discussionmentioning

confidence: 99%

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Amino acid variants of the vitamin D-binding protein and risk of diabetes in white Americans of European origin

Klupa

Małecki

Hanna

et al. 1999

European Journal of Endocrinology

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Background: Genetic variants of vitamin D-binding protein (DBP) have been reported to be associated, not only with diabetes, but also with prediabetic traits, in several populations. There are two known polymorphisms in exon 11 of the DBP gene that result in amino acid variants: at codons 416 GAT → GAG (Asp→Glu) and 420 ACG → AAG (Thr → Lys). Objective: To examine the association of these polymorphisms with diabetes in white Americans of European origin. Methods: We studied unrelated individuals: 181 with type 1 diabetes, 215 with type 2 diabetes, and 163 healthy controls. Exon 11 was amplified using polymerase chain reaction and the two alleles were determined by digestion with specific endonucleases: HaeIII and StyI, respectively. Results: At codon 416, Asp/Glu allele frequencies were 45%/55% in patients with type 1 diabetes, 43%/57% in patients with type 2 diabetes, and 46%/54% in controls (x 2 ¼0.69, 2 d.f., P < 0.71). At codon 420, corresponding Lys/Thr frequencies were 27%/73%, 30%/70%, and 30%/70% (x 2 ¼1.25, 2 d.f., P ¼ 0.53). Distributions of genotypes at both loci, and the haplotypes defined by the two loci, were also very similar in all groups. Conclusion: DNA polymorphisms in the DBP gene are not associated with diabetes in white Americans of European origin.

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Section: Discussionmentioning

confidence: 99%

“…They were also associated with type 2 diabetes in Polynesian Island populations (12). A small study in a white population showed a borderline association of these polymorphisms and type 1 diabetes (13).…”

Section: Introductionmentioning

confidence: 91%

Amino acid variants of the vitamin D-binding protein and risk of diabetes in white Americans of European origin

Klupa

Małecki

Hanna

et al. 1999

European Journal of Endocrinology

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“…No associations were observed in the family collection data ( p = 0.071). No association with D432E.Hodge et al225 103N/AUnited SatesCaucasianGc1F, Gc1S, Gc2Excess of Gc2-1 and Gc1-1 phenotypes (0.05 > p > 0.02); however, association not significant when corrected for multiple testing.Pani et al66 527 (152 families with at least one affected offspring)N/AGermanyCaucasian a Gc1F, Gc1S, Gc2; number of repeats for intron 8 [(TAAA) n ]NSDiabetes (Type II) (including insulin resistance and altered glucose tolerance)Baier et al70 578595United StatesPima IndiansD432E, T436KGc genotypes differed in plasma glucose concentrations in response to oral glucose tolerance test, highest concentrations observed in Gc1F and lowest in Gc2 ( p < 0.028, repeated measures ANOVA).Hirai et al72 208209JapanJapaneseGc1F, Gc1S, Gc2Reduced risk for individuals with Gc1F allele. Gc1F-1F genotype was less frequent in cases versus controls (11% versus 19%, p < 0.001).…”

Section: Introductionmentioning

confidence: 97%

Common variants of the vitamin D binding protein gene and adverse health outcomes

Malik

Juras

et al. 2013

Critical Reviews in Clinical Laboratory Sciences

135

137

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The vitamin D binding protein (DBP) is the major plasma carrier for vitamin D and its metabolites, but it is also an actin scavenger, and is the precursor to the immunomodulatory protein, Gc-MAF. Two missense variants of the DBP gene – rs7041 encoding Asp432Glu and rs4588 encoding Thr436Lys – change the amino acid sequence and alter the protein function. They are common enough to generate population-wide constitutive differences in vitamin D status, based on assay of the serum metabolite, 25-hydroxyvitamin D (25OHD). Whether these variants also influence the role of vitamin D in an immunologic milieu is not known. However, the issue is relevant, given the immunomodulatory effects of DBP and the role of protracted innate immune-related inflammation in response to tissue injury or repeated infection. Indeed, DBP and vitamin D may jointly or independently contribute to a variety of adverse health outcomes unrelated to classical notions of their function in bone and mineral metabolism. This review summarizes the reports to date of associations between DBP variants, and various chronic and infectious diseases. The available information leads us to conclude that DBP variants are a significant and common genetic factor in some common disorders, and therefore, are worthy of closer attention. In view of the heightened interest in vitamin D as a public health target, well-designed studies that look simultaneously at vitamin D and its carrier in relation to genotypes and adverse health outcome should be encouraged.

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“…Thus in GSE, where HLA may provide some 30% of the genetic contribution, the effects of other loci might well be expected to be large; and indeed the importance of the non-HLA linked GSE B-cell alloantigen(s) to GSE was apparent from the earliest studies (Strober 1980, Pena et al 1978, Mann et al 1976. In contrast, if indeed genes in the HLA complex provide 60% or more of the genetic contributions to IDDM, then a search for other genetic markers, such as the Kidd blood and Km (immunoglobulin light chain) loci on chromosome 2, and the Gm (immunoglobulin heavy chain) locus on chromosome 14, will be considerably more difficult (Hodge et al 1981, Field et al 1982, Hodge et al 1983a, Hodge et al 1983b, Field et al 1984. Thus, the method described herein may be used to help decide the magnitude and number of studies needed to identify the effects of various loci in multilocus disorders.…”

Section: Discussionmentioning

confidence: 99%

Measuring the genetic contribution of a single locus to a multilocus disease

Rotter

Landaw

1984

Clinical Genetics

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An increasing number of diseases are being demonstrated to be due to determinants at more than one genetic locus. It thus becomes of interest to determine the genetic contribution of a specific single locus. A method of estimating a “coefficient of genetic contribution” is described herein, based on a comparison of monozygotic twin concordance data for a specific disease, the empirical sibling recurrence risks, and the sharing of identical by descent genes at the specific locus of interest by pairs of siblings who are both affected. The value of the method is that it requires relatively few assumptions, and does not require knowledge of the mode of inheritance of disease susceptibility at the gene locus of interest. If there are major environmental determinants, this method will give a lower bound for the single locus of interest. To illustrate the method, it is applied to two specific diseases, insulin dependent diabetes mellitus (IDDM) and gluten‐sensitive enteropathy (GSE), and a specific locus, the HLA gene complex. The best estimates would appear to be that the HLA “genes” provide a coefficient of 60% for IDDM susceptibility, but only 30% for GSE. A possible reason for these differences is the markedly increased disease susceptibility of the DR3/DR4 heterozygote for IDDM.

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Association studies between type 1 (insulin-dependent) diabetes and 27 genetic markers: Lack of association between type 1 diabetes and kidd blood group

Cited by 15 publications

References 20 publications

Amino acid variants of the vitamin D-binding protein and risk of diabetes in white Americans of European origin

Amino acid variants of the vitamin D-binding protein and risk of diabetes in white Americans of European origin

Common variants of the vitamin D binding protein gene and adverse health outcomes

Measuring the genetic contribution of a single locus to a multilocus disease

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