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1.
Sci Rep ; 14(1): 4739, 2024 02 27.
Article in English | MEDLINE | ID: mdl-38413617

ABSTRACT

Dyslipidemia, as a metabolic risk factor, with the strongest and most heritable independent cause of cardiovascular diseases worldwide. We investigated the familial transmission patterns of dyslipidemia through a longitudinal family-based cohort, the Tehran Cardiometabolic Genetic Study (TCGS) in Iran. We enrolled 18,729 individuals (45% were males) aged > 18 years (mean: 38.15 (15.82)) and observed them over five 3-year follow-up periods. We evaluated the serum concentrations of total cholesterol, triglyceride, high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol with the first measurement among longitudinal measures and the average measurements (AM) of the five periods. Heritability analysis was conducted using a mixed-effect framework with likelihood-based and Bayesian approaches. The periodic prevalence and heritability of dyslipidemia were estimated to be 65.7 and 42%, respectively. The likelihood of an individual having at least one dyslipidemic parent reveals an OR = 6.94 (CI 5.28-9.30) compared to those who do not have dyslipidemic parents. The most considerable intraclass correlation of family members was for the same-sex siblings, with ICC ~ 25.5%. For serum concentrations, heritability ranged from 33.64 to 60.95%. Taken together, these findings demonstrate that familial transmission of dyslipidemia in the Tehran population is strong, especially within the same-gender siblings. According to previous reports, the heritability of dyslipidemia in this population is considerably higher than the global average.


Subject(s)
Cardiovascular Diseases , Dyslipidemias , Male , Humans , Female , Cohort Studies , Bayes Theorem , Likelihood Functions , Iran/epidemiology , Dyslipidemias/epidemiology , Dyslipidemias/genetics , Triglycerides , Cholesterol, HDL , Risk Factors , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/genetics
2.
Ann Epidemiol ; 64: 111-119, 2021 12.
Article in English | MEDLINE | ID: mdl-34563568

ABSTRACT

Outbreaks of Hepatitis A, caused by the Hepatitis A Virus (HAV), remain a worldwide health concern. We conducted a retrospective chart review to characterize patients with acute HAV during an outbreak at our urban tertiary care center to better characterize patients infected with HAV. We searched our electronic records for patients with positive HAV IgM antibodies during a period of outbreak in Philadelphia, May 2017-December 2019. Characteristics of patients were recorded. We searched an equal period of time prior to the outbreak, September 2014-April 2017, to compare the two patient populations. During the outbreak we diagnosed 205 cases of acute HAV compared to just 23 during an equal time period prior to the onset of the outbreak. When compared to the results reported by the public health department for 2019, this accounted for 39.9% of patients documented in the city. A history of drug use was found in 49.4% of our patients while 19.5% of patients were homeless. Our analysis of homelessness and drug usage among documented cases of HAV during the outbreak period mirrored data reported by the city. Further, our analysis found that 7 zip codes accounted for 60% of our patients. Biochemical measures of liver function were higher in patients examined during the outbreak.


Subject(s)
Hepatitis A virus , Hepatitis A , Disease Outbreaks , Hepatitis A/epidemiology , Humans , Retrospective Studies , Safety-net Providers
3.
Genesis ; 47(8): 524-34, 2009 Aug.
Article in English | MEDLINE | ID: mdl-19422019

ABSTRACT

Mahogunin Ring Finger-1 (Mgrn1) null mutant mice have a pleiotropic phenotype that includes the absence of yellow hair pigment, abnormal head shape, reduced viability, and adult-onset spongiform neurodegeneration. Mgrn1 encodes a highly conserved E3 ubiquitin ligase with four different isoforms which are differentially expressed and predicted to localize to different subcellular compartments. To test whether loss of specific isoforms causes different aspects of the mutant phenotype, we generated transgenes for each isoform and bred them onto the null mutant background. Mice expressing only isoform I or III appeared completely normal. Isoform II rescued or partially rescued the mutant phenotypes, whereas isoform IV had little or no effect. Our data show that different Mgrn1 isoforms are not functionally equivalent in vivo and that the presence of only isoform I or III is sufficient for normal development, pigmentation, and neuronal integrity.


Subject(s)
Protein Isoforms/physiology , Ubiquitin-Protein Ligases/physiology , Animals , Base Sequence , Body Patterning , Central Nervous System/growth & development , DNA Primers , Mice , Mice, Transgenic , Mitochondria/physiology , Protein Isoforms/genetics , Skin Pigmentation , Ubiquitin-Protein Ligases/genetics
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