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J I Rotter

Publications and source records attributed to J I Rotter.

At least 181 records · Page 10Linked to original sources
PubMed1979

Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorder.

To delineate genetic factors involved in the pathogenesis of duodenal ulcer, serum pepsinogen I levels were determined by radioimmunoassay in two large kindreds with multiple members affected with duodenal ulcer. An elevated serum immunoreactive pepsinogen I concentration (greater than 100 ng per milliliter) segregated as an autosomal dominant trait in these families. Furthermore, 10 of 11 patients with clinical ulcer disease in these families had hyperpepsinogenemia. An elevated serum pepsinogen I concentration appears to be a subclinical marker of the ulcer diathesis in families with this autosomal dominant form of peptic-ulcer disease.

Duodenal Ulcer↗
PubMed1979

Genetic heterogeneity of hyperpepsinogenemic I and normopepsinogenemic I duodenal ulcer disease.

In a search for a genetic marker of duodenal ulcer, we measured serum pepsinogen I levels in 168 ulcer patients and 151 of their clinically normal siblings. The ulcer patients tended to have either hyperpepsinogenemia I (pepsinogen I, greater than or equal to 100 ng/mL) or a normal level on a familial basis. Further evidence supporting this separation was the finding that the mean serum pepsinogen I level in the clinically normal siblings of the hyperpepsinogenemic patients was 91.2 ng/mL, significantly higher than the mean level (63.1 ng/mL) in the normal siblings of the normopepsinogenemic I patients. In the hyperpepsinogenemic I families the results of segregation analysis of an elevated pepsinogen I were consistent with autosomal-dominant inheritance of this trait. The genetic basis of normopepsinogenemic I duodenal ulcer was also shown by the familial aggregation of this disorder. These data provide direct evidence for genetic heterogeneity of duodenal ulcer disease.

ABO Blood-Group System↗
PubMed1978

Standard growth curves for achondroplasia.

Standard growth curves for achondroplasia, the most common form of short-limbed dwarfism, have been constructed based on measurements of height, growth velocity, upper and lower segment, and head circumference in 400 achondroplastic dwarfs. These standard curves provide the basis to assess normal growth in these individuals, to aid in the determination of superimposed disorders, and to assess any growth accelerating therapy.

Achondroplasia↗
PubMed1978

Hereditary considerations in common disorders.

We have reviewed the approach of the modern clinical geneticist to the genetics of common diseases. The importance of considering genetic heterogeneity within these groups of disorders has been emphasized. The physician should recognize our present inability to deliver exact recurrence risks for most families with these common disorders. As our knowledge improves, we must constantly update our counseling. Until then, in most cases, we can only utilize the empirical risk data presently available and provide an idea of the magnitude of risk, which in many of these disorders appears low. However, continued utilization of imprecise risk data must not impede recognition of potential and demonstrated heterogeneity within these disorders, or retard the development of new and improved risk data based on knowledge of the heterogeneity within common diseases.

Cleft Lip↗
PubMed1978

Heterogeneity in diabetes mellitus--update, 1978. Evidence for further genetic heterogeneity within juvenile-onset insulin-dependent diabetes mellitus.

The concept that idiopathic diabetes mellitus is a genetically heterogeneous group of disorders has been established by twin and HLA studied that have permitted the separation of juvenile-onset and maturity-onset diabetes. The extent of the heterogeneity within the juvenile-onset and maturity-onset types is still in question. On the basis of recent immunologic and metabolic studies we believe that further heterogeneity can be demonstrated within the juvenile-onset diabetic group. We wish to hypothesize that there are at least two distinct forms of juvenile-onset diabetes, one associated with HLA B8 and the other with BW15. The B8 type is characterized by autoimmunity, microangiopathy, and a stronger association with the HLA D locus. The BW15 type is characterized by antibody response to exogenous insulin and a stronger association with the HLA C locus. Greater understanding of the pathogenesis, natural history, and genetics of diabetes mellitus will result as the full extent of genetic heterogeneity is elucidated.

Alleles↗
PubMed1977

Peptic ulcer disease--a heterogeneous group of disorders?

The familial aggregation of peptic ulcer disease has been well established, as has its association with such clear-cut genetic factors as blood group O and nonsecretor status. However, the genetics of this disorder, or group of disorders, is still in question. Polygenic inheritance is the prevailing hypothesis that has been proposed for peptic ulcer. This hypothesis was based primarily on the exclusion of a simple mode of inheritance for all ulcer disease. Genetic heterogeneity is an alternative hypothesis that can explain both the familial aggregation of peptic ulcer disease and the lack of a simple Mendelian pattern of inheritance. The evidence for genetic heterogeneity in peptic ulcer disease is reviewed, and studies are proposed to test this hypothesis.

ABO Blood-Group System↗
PubMed1977

HLA-B5 associated with duodenal ulcer.

In a search for further genetic factors contributing to ulcer disease we undertook a study of the frequency of HLA antigens in patients with duodenal ulcer. Seventy-seven male patients (of two races) were typed for the HLA-A and-B loci. Thirteen of the 54 (24%) white males were found to have antigen B5 compared to 10% of controls. These results have a P value of 0.0016 which remains significant even when multiplied by the number of antigens tested (28). These results demonstrate a significant association between duodenal ulcer and HLA antigen B5 in white males, with a relative risk of 2.9, greater than that associated with the combination of blood group O and nonsecretor status.

ABO Blood-Group System↗
PubMedDate not supplied

Additional evidence of linkage between Crohn's disease and a putative locus on chromosome 12.

PURPOSE: The inflammatory bowel diseases (IBD), Crohn's disease (CD), and ulcerative colitis (UC) are chronic intestinal disorder of unknown etiology. Genetic factors play an important role in the pathogenesis of these diseases, but with a complex pattern of inheritance. A number of genome-wide scans have identified several putative susceptibility loci for both CD and UC, including a locus on chromosome 12 reported in a set of British families. We aim to evaluate the linkage between CD or UC and this chromosome 12 locus in an independent set of U.S. Caucasian families (36% being of Ashkenazi Jewish origin). METHODS: Microsatellite markers along chromosome 12 spaced at approximately 10 cm intervals were used to test the putative loci in CD only families (65 sib pairs from 46 families). Regions with positive linkage for CD were then tested in a panel of UC and mixed families (44 sib pairs from 29 families). Two point linkage analysis was performed with SIBPAL. Multipoint linkage analysis was carried out with MAPMAKER/SIBS. RESULTS: We observed evidence of linkage between the region on chromosome 12 and Crohn's disease, because there was a significant excess of allele sharing in CD sib pairs (pi = 0.62, p = 0.0004 from two-point linkage; and logarithm of the odds score (LOD) = 2.0 from multipoint linkage). However, we did not observe the same linkage in UC and mixed families (p = 0.48; not significant [ns]). CONCLUSION: Our data provided further evidence that the region on chromosome 12 is likely to contain a gene predisposing to CD.

Adolescent↗
PubMedDate not supplied

A familial risk profile for osteoporosis.

PURPOSE: To describe genetic epidemiologic aspects of osteoporosis. METHODS: 69 patients with osteoporosis were interviewed regarding personal and family histories of osteoporosis and related fractures. Family history information was obtained on 421 first degree and 748 second degree relatives. RESULTS: 45% of cases reported a family history of osteoporosis. Familial cases were characterized neither by an earlier age of diagnosis nor by a greater degree of phenotypic severity. Empiric risks for osteoporosis were highest for mothers, 33%, and were 19% for sisters. CONCLUSION: These results provide an initial genetic epidemiologic profile for osteoporosis and information useful for genetic counseling.

Adult↗
PubMedDate not supplied

Polymorphic gene markers in Mexican-Americans residing in southern California.

The gene frequencies of nine different genetic polymorphic markers [ABO, MNS and P blood groups; haptoglobin, transferrin, Gc protein, complement (C3), properdin factor B and alpha 1-antitrypsin] were determined in 94 Mexican-Americans residing in the Los Angeles, California area. Comparisons with published data on Mexican-Americans living in other areas of the United States or in Mexico itself revealed no significant differences in the gene frequencies between this and previous studies. However, data from the current study demonstrated significant differences in ABO and haptoglobin allele frequencies compared to published non-Hispanic Caucasian data. These data suggest a large degree of genetic homogeneity in the Mexican-American population residing in the United States. Additional gene marker studies will be important to test this hypothesis and further define the degree of non-Hispanic Caucasian admixture in this population.

ABO Blood-Group System↗
PubMedDate not supplied

Different HLA haplotypes in Mexican Americans with IDDM.

The study of HLA histocompatibility antigens and insulin-dependent diabetes mellitus (IDDM) in non-White populations may provide a unique opportunity to more accurately define the diabetes susceptibility gene(s) located within the HLA region. To determine whether HLA haplotypes differ between ethnic groups, we compared 105 HLA haplotypes from 55 Mexican-American IDDM patients with 272 haplotypes from 136 IDDM patients of non-Hispanic White descent. The accurate determination of genotypes and haplotypes requires the study of family units. Therefore, all diabetic patients in this study were from studies of families having one or more siblings with IDDM. In the Mexican-American group, HLA-DR3 and -DR4 were the most common HLA-DR alleles and were present in comparable frequencies in the non-Hispanic White group (HLA-DR3, 27% of Mexican-American and 29% of non-Hispanic White haplotypes; DR4, 46% of Mexican-American and 43% of non-Hispanic White haplotypes). However, the HLA-B/DR-containing haplotypes and haplotype frequencies differed between the two groups. Several common haplotypes (B8/DR3, B15/DR4) in the non-Hispanic White group occurred less frequently in the Mexican-American group. In contrast, uncommon haplotypes in the non-Hispanic White group comprised nearly 50% of the DR4-containing haplotypes (B35/DR4, B40/DR4, B44/DR4) in the Mexican-American group. Although both DR3- and DR4-haplotype frequencies differed significantly between the two groups, the relative frequency of DR3- but not DR4-containing haplotypes was similar in both ethnic groups. This adds to the evidence suggesting that different susceptibilities are provided by the haplotypes carrying the DR3 and DR4 alleles.

Alleles↗
PubMedDate not supplied

Diabetes mellitus: the search for genetic markers.

The search for genetic markers has established that idiopathic diabetes mellitus is a genetically heterogeneous group of disorders that have glucose intolerance in common. The types of genetic markers--subclinical linkage, and association--and how they are utilized to delineate the genetic basis of the diabetic syndrome are discussed. The use of such markers as insulin levels, pancreatic islet cell antibodies, and HLA antigens has permitted the separation of insulin-dependent (juvenile) and not insulin-dependent (maturity) diabetes. Such studies have also started to reveal heterogeneity within these broad groups of insulin-dependent and not insulin-dependent types. This extensive heterogeneity has major implications for understanding the pathogenesis and genetics of diabetic mellitus and is of potentially great clinical significance, since the natural history and complications may well differ between these different disorders.

Diabetes Mellitus↗