HLA polymorphisms in Italian bone marrow donors: a regional analysis

Rendine, S.; Borelli, I; Barbanti, M.; Sacchi, Nicoletta; Roggero, S.; Curtoni, E. S.

doi:10.1111/j.1399-0039.1998.tb02277.x

Cited by 73 publications

(64 citation statements)

References 16 publications

(5 reference statements)

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“…Transposed in a larger context (i.e. in the total peninsula), these findings perfectly matched with those of an Italian study (Rendine et al 1998), confirming that HLA-A2,B51 is a Northern Italian haplotype and HLA-A24,B35 a Southern one. The immigration of Southern people is prevailingly concentrated in Milano City and its neighborhood (i.e.…”

Section: supporting

confidence: 78%

“…Analysis of Hardy-Weinberg (HW) equilibrium suggested that the reservoirs of Pavia, Brescia and Cremona, that are in equilibrium, were composed principally by autochthonous people, while Milano and Bergamo, which deviated from HW for all the three HLA loci, revealed a more important population admixture (Table 4). This is probably due to the high rate of immigration from the other Italian regions, as reported elsewhere (Rendine et al 1998).…”

Section: mentioning

confidence: 60%

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An immunogenetic map of Lombardy (Northern Italy)

Martinetti¹,

Degioanni²,

D'aronzo³

et al. 2002

Annals of Human Genetics

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For this study we consulted the Bone Marrow Donors' Registry of Lombardy (Italy) and analyzed 43937 HLA‐A,B phenotypes and 13922 HLA‐A,B,DR phenotypes. We estimated the HLA‐A,B and HLA‐A,B,DR haplotype frequencies via the maximum‐likelihood method. We analyzed the genetic structure of the 11 provinces of Lombardy by means of Principal Component Analysis and Correspondence Analysis, and estimated the variety of the different haplotypes at provincial level and the percentage of unique phenotypes at village level. We found 11189 different HLA‐A,B phenotypes, 661 different HLA‐A,B haplotypes and more than 4000 different HLA‐A,B,DR haplotypes. We identified 20 villages, in Western Lombardy, very rich in unique/rare phenotypes. Here we report a formula which allows the identification of a putative donor matched for two haplotypes with a recipient. This result may be of great importance for the genetic study of the population of Lombardy and, even more, for bone marrow transplantation programs.

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Section: supporting

confidence: 78%

Section: mentioning

confidence: 60%

An immunogenetic map of Lombardy (Northern Italy)

Martinetti¹,

Degioanni²,

D'aronzo³

et al. 2002

Annals of Human Genetics

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“…The analysis of HLA-DQA1 and -DQB1 polymorphisms at genomic levels was performed by the polymerase chain reaction/sequence-specific primers technique (24). The results were compared with those of 40,071 Italian bone marrow Incidental hyperglycemia in children donors enrolled in the Italian Bone Marrow Donor Registry and representative of the Italian population (25). Mean age of control subjects was 26 years and the male-to-female sex ratio was 0.98.…”

Section: Ogttmentioning

confidence: 99%

Risk of Type 1 Diabetes Development in Children With Incidental Hyperglycemia

Lorini

Alibrandi²,

Vitali³

et al. 2001

Diabetes Care

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OBJECTIVE -The aim of our study was to determine whether children with incidental hyperglycemia are at an increased risk of developing type 1 diabetes. RESEARCH DESIGN AND METHODS-A total of 748 subjects, 1-18 years of age (9.04 Ϯ 3.62, mean Ϯ SD), without family history of type 1 diabetes, without obesity, and not receiving drugs were studied and found to have incidental elevated glycemia defined as fasting plasma glucose Ͼ5.6 mmol/l confirmed on two occasions. Subjects were tested for immunological, metabolic, and immunogenetic markers.RESULTS -Islet cell antibodies Ͼ5 Juvenile Diabetes Foundation units were found in 10% of subjects, elevated insulin autoantibody levels in 4.6%, GAD antibody in 4.9%, and antityrosine phosphatase-like protein autoantibodies in 3.9%. First-phase insulin response (FPIR) was Ͻ1st centile in 25.6% of subjects. The HLA-DR3/DR3 and HLA-DR4/other alleles were more frequent in hyperglycemic children than in normal control subjects (P ϭ 0.012 and P ϭ 0.005, respectively), and the HLA-DR other/other allele was less frequent than in normal control subjects (P ϭ 0.000027). After a median follow-up of 42 months (range 1 month to 7 years), 16 (2.1%) subjects (11 males and 5 females), 4.1-13.9 years of age, became insulin dependent. All had one or more islet autoantibodies, and the majority had impaired insulin response and genetic susceptibility to type 1 diabetes. Diabetes symptoms were recorded in 11 patients and ketonuria only in 4 patients. The cumulative risk of type 1 diabetes was similar in males and females, and it was also similar in subjects under or over 10 years, whereas the cumulative risk of type 1 diabetes was increased in subjects with one or more autoantibodies and in those with FPIR Ͻ1st centile.CONCLUSIONS -Children with incidental hyperglycemia have a higher-than-normal frequency of immunological, metabolic, or genetic markers for type 1 diabetes and have an increased risk of developing type 1 diabetes. Diabetes Care 24:1210 -1216, 2001T ype 1 diabetes results from cellmediated autoimmune destruction of ␤-cells in the pancreas (1). Multiple genes contribute to the predisposition of the disease, and major histocompatibility complex (MHC) is the most important one (1). Moreover, evidence suggests that environmental factors, which are still poorly defined, may play a role in either precipitating the disease and/or dominantly shaping its course (1). Various autoantibodies against ␤-cell components are present in the serum of newly diagnosed patients with type 1 diabetes (1). More importantly, these circulating autoantibodies may be present for months to years preceding the onset of clinical diabetes (2). The rate of ␤-cell destruction is quite variable, as it is rapid in some individuals and slow in others (3). Some patients, particularly children and adolescents, may present with ketoacidosis at the first manifestation of the disease (4). Others have modest fasting hyperglycemia that can rapidly change to severe hyperglycemia and/or ketoacidosis in the presence of infection ...

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“…Many published estimates of frequency distributions of common HLA haplotype distributions for narrowlydefined national and regional populations throughout the world are available. Examples include [33], [8], [30], [34] and [10]). These estimates are usually based on samples of a few hundred individuals and hence provide reliable information only about the distributions of the most common haplotypes.…”

Section: Racial Categories and Hla Matchingmentioning

confidence: 99%

Stem Cell Donor Matching for Patients of Mixed Race

Bergstrom¹,

Garratt²,

Sheehan‐Connor³

2012

The B.E. Journal of Economic Analysis &Amp; Policy

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The plight of mixed-race leukemia patients unable to find stem cell donors with matching immunity types has received much media attention. Because of small samples, direct estimation of the distribution of immunity types for persons of mixed race has not been possible. However, because the alleles that control immunity type are located close together on a single chromosome, it is possible to estimate the distribution of types for mixed races, by using existing estimates of haplotype distributions for single races. We provide such estimates and calculate probabilities that persons of specific mixed-race combinations can find a match in the existing registry of potential donors. We also estimate probabilities that adding mixed-race donors to the registry will result in a life-saving match for a patient in need of a transplant and we compare the benefits and costs of adding new registrants of specified race or mixed race to the registry.

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HLA polymorphisms in Italian bone marrow donors: a regional analysis

Cited by 73 publications

References 16 publications

An immunogenetic map of Lombardy (Northern Italy)

An immunogenetic map of Lombardy (Northern Italy)

Risk of Type 1 Diabetes Development in Children With Incidental Hyperglycemia

Stem Cell Donor Matching for Patients of Mixed Race

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