PubMed · 11631470
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H S Klein, S L Engerman. 1976. [Not Available].. https://pubmed.ncbi.nlm.nih.gov/11631470/
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BACKGROUND: Glomerular filtration rate (GFR) is a heritable trait, and hyperfiltration (GFR increment in remnant nephrons) may accelerate renal functional decline in chronic kidney disease (CKD). Mesangial and vascular smooth myocytes control GFR by contraction, dependent on voltage-gated Ca(2+) influx, which is controlled by the regulatory β₁-subunit (KCNMB1) of large-conductance heteromeric K+ ('BK') channels. KCNMB1 gain-of-function variant Glu65Lys results in generalized vasorelaxation and thus protection against systemic hypertension. Here we asked whether the Glu65Lys variant influences GFR, in the basal state or during progressive renal decline. METHODS: We explored Glu65Lys effects on GFR in three populations spanning two ethnicities and two diseases (hypertension and nephrosclerosis). GFR was either estimated (eGFR from serum creatinine) or directly measured (iothalamate clearance). RESULTS: The 65Lys variant was relatively common, occurring on ∼5-10% of chromosomes in different biogeographic ancestry groups, and 65Lys carriers exhibited higher eGFR in two primary care populations: extreme BP values in Kaiser clinics (p = 0.029, accounting for ∼0.2% of trait variance), or treated hypertensives in VA clinics (p = 0.017, accounting for ∼0.9% of trait variance). In blacks with progressive renal disease (NIDDK AASK), 65Lys carriers displayed a steeper slope in GFR chronic decline (p = 0.030, accounting for ∼0.4% of trait variance), and Glu65Lys genotype also predicted time of onset of renal failure (log rank p = 0.019). CONCLUSIONS: Common KCNMB1 gain-of-function variant Glu65Lys influences GFR, and 65Lys carriers exhibit not only elevated baseline GFR, but also more rapid GFR decline (and consequent development of renal failure) in CKD. The results suggest that profiling patients at Glu65Lys can assist in gauging renal prognosis as well as selection of rational therapy in hypertension with progressive renal disease.
Calcyon is a brain-specific D1 dopamine receptor-interacting protein, with a potential role in D1-mediated physiological processes, including motor control, reward mechanisms, and cognitive processes. Our objective was to investigate the relationship between polymorphism of the CALCYON gene and (1) schizophrenia and (2) cocaine dependence in African-American (AA) and European-American (EA) subjects. Two single nucleotide polymorphisms (SNPs) at the CALCYON locus were genotyped in 70 AA and 206 EA individuals with schizophrenia and 90 AA and 118 EA individuals with cocaine dependence. The control group was comprised of 46 AA and 207 EA subjects screened to exclude those with psychiatric or substance use disorders. The specific polymorphisms studied were markers +295214G/A and +297151T/G. Comparisons of allele and haplotype frequencies between cases and controls were performed with the Fisher's Exact Test. Linkage disequilibrium (LD) between these two SNPs was calculated with the 3LOCUS program. No alleles or haplotypes were found to be associated with schizophrenia or cocaine dependence either in AA or EA subjects. The markers +295214G/A and +297151T/G are in the same haplotype block in all subgroups. Allele and haplotype frequencies differed significantly between EA and AA subjects. These results suggest that these two genetic variants in the CALCYON gene do not play a major role in predisposition to either schizophrenia or cocaine dependence in AA or EA subjects. Furthermore, these findings begin to establish a haplotype map for this gene in the AA and EA populations.
PURPOSE: The aim of the study was to investigate whether there were differences in acceptance rates for VR services among African Americans, White Americans, Native American or Alaskan Natives, and Asian or Pacific Islanders with disabilities in the USA? METHOD: The study was based on a population 599 444 customers who sought VR or Bureau of Visual Service Agency services in the USA from 1 October, 1997, through 30 September, 1998. The subsample of customers with no missing values on the variables under investigation included African Americans (n = 13 287), White Americans (n = 38 048), Native American or Alaskan Natives (n = 599), and Asian or Pacific Islanders (n = 596). The chi-square test of homogeneity of proportions was the test statistic. The final random subsample included African Americans (n = 300), White Americans (n = 300) Native American or Alaskan Natives (n = 300), and Asian or Pacific Islanders (n = 300) was drawn from the population of VR customers in the USA. RESULTS: The study supports the hypothesis that African Americans were more likely to be found ineligible for VR services, while Asian or Pacific Islanders were more likely to be accepted for VR services. CONCLUSION: While discovering that African Americans are more likely to be rejected for VR services was not surprising, discovering that Asians or Pacific Islanders are more likely to be accepted for VR services than African Americans was unexpected, given that past VR acceptance research adduced that White Americans, not Asian or Pacific Islanders, are more likely to be accepted for VR services when compared to African Americans with disabilities. While a preponderance of VR research indicates that White Americans are more likely to be accepted for VR services than African Americans, it was also unexpected that White Americans were not statistically significant when education, type of major disability, disability severity, and SES were controlled.