Testicular microlithiasis is associated with ethnicity and socioeconomic status.
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ABSTRACT:
SUBMITTER: Pedersen MR
PROVIDER: S-EPMC5546649 | biostudies-other | 2017 Aug
REPOSITORIES: biostudies-other
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Project description:Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, by a candidate-gene approach, the gene responsible for the disease as SLC34A2 (the type IIb sodium-phosphate cotransporter gene), which is involved in phosphate homeostasis in several organs. We identified six homozygous exonic mutations in the seven unrelated patients with PAM we studied. Three of the mutations were frameshifts, one was a chain termination, one was an amino acid substitution, and one was a deletion spanning the minimal promoter and the first exon. Absence of functional protein product of the gene is compatible with calcium phosphate deposition in alveolar airspaces. We show that impaired activity of the phosphate transporter is presumably responsible for the microliths and that PAM is a recessive monogenic disease with full penetrance. Testicular microlithiasis (TM) is a disease that is more common than PAM. It is often associated with cancer and infertility. Since the gene we identified is also expressed in testis, we searched for mutations in subjects with TM. In 2 of the 15 subjects with TM we studied, we identified two rare variants, one synonymous and the other noncoding, that are possibly associated with the condition.
| S-EPMC1592565 | biostudies-literature
Project description:Testicular microlithiasis (TM) is one of the symptoms of testicular dysgenesis syndrome (TDS). TM is particularly interesting as an informative marker of testicular germ cell tumors (TGCTs). KIT ligand gene (KITLG), BCL2 antagonist/killer 1 (BAK1), and sprouty RTK signaling antagonist 4 (SPRY4) genes are associated with a high risk of TGCTs, whereas bone morphogenetic protein 7 gene (BMP7), transforming growth factor beta receptor 3 gene (TGFBR3), and homeobox D cluster genes (HOXD) are related to TDS. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, we investigated allele and genotype frequencies for KITLG (rs995030, rs1508595), SPRY4 (rs4624820, rs6897876), BAK1 (rs210138), BMP7 (rs388286), TGFBR3 (rs12082710), and HOXD (rs17198432) in 142 TGCT patients, 137 TM patients, and 153 fertile men (control group). We found significant differences in the KITLG GG_rs995030 genotype in TM (P = 0.01) and TGCT patients (P = 0.0005) compared with the control. We also revealed strong associations between KITLG_rs1508595 and TM (G allele, P = 0.003; GG genotype, P = 0.01) and between KITLG_rs1508595 and TGCTs (G allele, P = 0.0001; GG genotype, P = 0.0007). Moreover, there was a significant difference in BMP7_rs388286 between the TGCT group and the control (T allele, P = 0.00004; TT genotype, P = 0.00006) and between the TM group and the control (T allele, P = 0.04). HOXD also demonstrated a strong association with TGCTs (rs17198432 A allele, P = 0.0001; AA genotype, P = 0.001). Furthermore, significant differences were found between the TGCT group and the control in the BAK1_rs210138 G allele (P = 0.03) and the GG genotype (P = 0.01). KITLG and BMP7 genes, associated with the development of TGCTs, may also be related to TM. In summary, the KITLG GG_rs995030, GG_rs1508595, BMP7 TT_rs388286, HOXD AA_rs17198432, and BAK1 GG_rs210138 genotypes were associated with a high risk of TGCT development.
| S-EPMC6219295 | biostudies-literature
Project description:BACKGROUND:Very few studies with nationally representative samples have investigated the combined effects of race/ethnicity and socioeconomic position (SEP) on polypharmacy (PP) among older Americans. For instance, we do not know if prevalence of PP differs between African Americans (AA) and white older adults, whether this difference is due to a racial gap in SEP, or whether racial and ethnic differences exist in the effects of SEP indicators on PP. Aims: We investigated joint effects of race/ethnicity and SEP on PP in a national household sample of American older adults. Methods: The first wave of the University of Michigan National Poll on Healthy Aging included a total of 906 older adults who were 65 years or older (80 AA and 826 white). Race/ethnicity, SEP (income, education attainment, marital status, and employment), age, gender, and PP (using 5+ medications) were measured. Logistic regression was applied for data analysis. Results: Race/ethnicity, age, marital status, and employment did not correlate with PP; however, female gender, low education attainment, and low income were associated with higher odds of PP among participants. Race/ethnicity interacted with low income on odds of PP, suggesting that low income might be more strongly associated with PP in AA than white older adults. Conclusions: While SEP indicators influence the risk of PP, such effects may not be identical across diverse racial and ethnic groups. That is, race/ethnicity and SEP have combined/interdependent rather than separate/independent effects on PP. Low-income AA older adults particularly need to be evaluated for PP. Given that race and SEP have intertwined effects on PP, racially and ethnically tailored interventions that address PP among low-income AA older adults may be superior to universal interventions and programs that ignore the specific needs of diverse populations. The results are preliminary and require replication in larger sample sizes, with PP measured directly without relying on individuals' self-reports, and with joint data collected on chronic disease.
| S-EPMC6631748 | biostudies-literature
Project description:IntroductionThe hippocampus has a significant role in memory, learning, and cognition. Although hippocampal size is highly susceptible to family socioeconomic status (SES) and associated stress, very little is known on racial and ethnic group differences in the effects of SES indicators on hippocampus volume among American children.PurposeThis study explored the multiplicative effects of race, ethnicity, and family SES on hippocampus volume among American children.MethodsUsing data from the Adolescent Brain Cognitive Development (ABCD), we analyzed the functional Magnetic Resonance Imaging (fMRI) data of 9390 9-10 years old children. The main outcome was hippocampus volume. The predictor was parental education. Subjective family SES was the independent variable. Age, sex, and marital status were the covariates. Racial and ethnic group membership were the moderators. To analyze the data, we used regression models.ResultsHigh subjective family SES was associated with larger hippocampus volume. This effect was significantly larger for Whites than Black families.ConclusionsThe effect of subjective family SES on children's hippocampus volume is weaker in Black than White families.
| S-EPMC7581302 | biostudies-literature
Project description:Background:Higher socioeconomic status (SES) indicators such as educational attainment and income reduce the risk of chronic lung diseases (CLDs) such as Chronic Obstructive Pulmonary Disease (COPD), emphysema, chronic bronchitis, and asthma. Marginalization-related Diminished Returns (MDRs) refer to smaller health benefits of high SES for marginalized populations such as racial and ethnic minorities compared to the socially privileged groups such as non-Hispanic Whites. It is still unknown, however, if MDRs also apply to the effects of education and income on CLDs. Purpose:Using a nationally representative sample, the current study explored racial and ethnic variation in the associations between educational attainment and income and CLDs among American adults. Methods:In this study, we analyzed data (n = 25,659) from a nationally representative survey of American adults in 2013 and 2014. Wave one of the Population Assessment of Tobacco and Health (PATH)-Adult study was used. The independent variables were educational attainment (less than high school = 1, high school graduate = 2, and college graduate =3) and income (living out of poverty =1, living in poverty = 0). The dependent variable was any CLDs (i.e., COPD, emphysema, chronic bronchitis, and asthma). Age, gender, employment, and region were the covariates. Race and ethnicity were the moderators. Logistic regressions were fitted to analyze the data. Results:Individuals with higher educational attainment and those with higher income (who lived out of poverty) had lower odds of CLDs. Race and ethnicity showed statistically significant interactions with educational attainment and income, suggesting that the protective effects of high education and income on reducing odds of CLDs were smaller for Blacks and Hispanics than for non-Hispanic Whites. Conclusions:Education and income better reduce the risk of CLDs among Whites than Hispanics and Blacks. That means we should expect disproportionately higher than expected risk of CLDs in Hispanics and Blacks with high SES. Future research should test if high levels of environmental risk factors contribute to the high risk of CLDs in high income and highly educated Black and Hispanic Americans. Policy makers should not reduce health inequalities to SES gaps because disparities sustain across SES levels, with high SES Blacks and Hispanics remaining at risk of health problems.
| S-EPMC7100893 | biostudies-literature
Project description:OBJECTIVES:This study sought to describe the health status of outpatients with heart failure and reduced ejection fraction (HFrEF) by sex, race/ethnicity, and socioeconomic status (SES). BACKGROUND:Although a primary goal in treating patients with HFrEF is to optimize health status, whether disparities by sex, race/ethnicity, and SES exist is unknown. METHODS:In the CHAMP-HF (Change the Management of Patients with Heart Failure) registry, the associations among sex, race, and SES and health status, as measured by the Kansas City Cardiomyopathy Questionnaire-overall summary (KCCQ-os) score (range 0 to 100; higher scores indicate better health status) was compared among 3,494 patients from 140 U.S. clinics. SES was categorized by total household income. Hierarchical multivariate linear regression estimated differences in KCCQ-os score after adjusting for 31 patient characteristics and 10 medications. RESULTS:Overall mean KCCQ-os scores were 64.2 ± 24.0 but lower for women (29% of sample; 60.3 ± 24.0 vs. 65.9 ± 24.0, respectively; p < 0.001), for blacks (60.5 ± 25.0 vs. 64.9 ± 23.0, respectively; p < 0.001), for Hispanics (59.1 ± 21.0 vs. 64.9 ± 23.0, respectively; p < 0.001), and for those with the lowest income (<$25,000; mean: 57.1 vs. 63.1 to 74.7 for other income categories; p < 0.001). Fully adjusted KCCQ-os scores were 2.2 points lower for women (95% confidence interval [CI]: -3.8 to -0.6; p = 0.007), no different for blacks (p = 0.74), 4.0 points lower for Hispanics (95% CI: -6.6 to -1.3; p = 0.003), and lowest in the poorest patients (4.7 points lower than those with the highest income (95% CI: 0.1 to 9.2; p = 0.045; p for trend = 0.003). CONCLUSIONS:Among outpatients with HFrEF, women, blacks, Hispanics, and poorer patients had worse health status, which remained significant for women, Hispanics, and poorer patients in fully adjusted analyses. This suggests an opportunity to further optimize treatment to reduce these observed disparities.
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Project description:BACKGROUND: Familial tumoral calcinosis (FTC) is a rare autosomal recessive disease characterised by the development of multiple calcified masses in periarticular soft tissues; GALNT3 gene mutations have recently been described in an African American and in a Druse Arab family with FTC. OBJECTIVE: To report the clinical and histological features caused by a new GALNT3 mutation in a white family. RESULTS: Homozygosity for the nonsense mutation Lys463X was found in both affected siblings, who displayed a classic phenotype, the male also having testicular microlithiasis. He is the first subject described with testicular microlithiasis in FTC. CONCLUSIONS: The high testicular expression of GALNT3 suggests that the gene alteration could act locally by causing deposition of calcium, and the testis may be an underestimated site of calcification in FTC. Autoimmune diseases are present in several members of the family. Although immune disorders have been described in FTC, autoimmunity does not segregate with the GALNT3 mutation in this family.
| S-EPMC1860360 | biostudies-literature
Project description:Anatomic subsite risk factors for gastric cancer differ substantially, and subsite-specific distribution of risk factors (such as Helicobacter pylori) can vary by race and ethnicity and neighborhood socioeconomic status (nSES). We examined differences in gastric cancer incidence by subsite, stratified by race and ethnicity and nSES, using Surveillance Epidemiology and End Results Program 2000-2014 data for 77,881 incident gastric cancer cases (cardia, n = 23,651; non-cardia, n = 35,825; overlapping or unspecified, n = 18,405). Compared with non-Hispanic whites, cardia cancer multivariable-adjusted incidence rate ratios were 35%-47% lower for blacks, Hispanics, Asian or Pacific Islanders, and American Indian or Alaska Natives; conversely, non-cardia incidence rate ratios were 1.7- to 3.9-fold higher for blacks, Hispanics, Asian or Pacific Islanders, and American Indian or Alaska Natives. Higher adjusted incidence rate ratios with decreasing nSES (lowest vs highest nSES quintile) were observed for all gastric (1.3-fold) and non-cardia (1.3-fold) cancers but were borderline significant for cardia cancers (1.1-fold). In conclusion, non-cardia cancer incidence is higher in minorities and varies by nSES, but cardia cancer incidence is higher in non-Hispanic whites and does not vary substantially by nSES. Clarifying reasons for higher cardia risk in non-Hispanic whites and targeted interventions to address non-cardia cancer risk in minorities could lessen the burden of gastric cancer.
| S-EPMC6309455 | biostudies-literature
Project description:Testicular germ cell tumours (TGCT) cluster in families, but responsible genes remain unidentified. The association between testicular microlithiasis (TM) and testicular carcinoma in situ (CIS) suggests that TM may be a TC risk factor. We report testicular ultrasound findings in men with familial TGCT (FTGCT) and their unaffected relatives. A total of 81 men (48 affected and 33 unaffected) from 31 families with > or =2 TC cases underwent testicular ultrasound. Testicular microlithiasis was defined as either 'classic' (> or =5 microliths) or 'limited' (<5 microliths). Statistical analyses used Fisher's exact test and permutation testing. Testicular microlithiasis was more frequent in the contralateral testicles of men with a history of TGCT (affected men) than in unaffected men (48 vs 24%, P=0.04). The association appeared stronger for classic TM (21 vs 9%) than for limited TM (27 vs 15%). Testicular microlithiases were bilateral in six out of seven (87%) unaffected men. Among affected men, TM was not associated with histology, age at diagnosis or cancer treatment. Of the 31 families, 10 accounted for a majority (61%) of the TM cases identified (P=0.11). Testicular microlithiasis was more prevalent among FTGCT family members than described previously in the general population, and was more common among FTGCT cases vs unaffected blood relatives. Testicular microlithiasis appeared to cluster in certain families. These findings suggest both a familial predisposition to TM and an association between TM and FTGCT. If proven, this could be clinically important to men in FTGCT families, and may be useful in identifying specific genes involved in FTGCT.
| S-EPMC2584936 | biostudies-other
Project description:We examined children's sleep at age 9 as a predictor of developmental trajectories of cognitive performance from ages 9 to 11 years. The effects of sleep on cognition are not uniform and thus we tested race/ethnicity, socioeconomic status (SES), and sex as moderators of these associations. At the first assessment, 282 children aged 9.44 years (52% boys, 65% European American [EA], 35% African American [AA]) participated. Two more waves of data collection spaced 1 year apart followed. The majority of children (63%) were living at or below the poverty line. Children's sleep was measured objectively with actigraphy and 2 well-established sleep parameters were derived: duration, indexed by sleep minutes between sleep onset and wake time, and quality, indexed by efficiency. Multiple cognitive functioning domains were examined with the Woodcock Johnson Tests of Cognitive Abilities (WJ III). Across the sample, higher sleep efficiency, but not duration, was associated with better cognitive performance. Significant moderation effects emerged. Controlling for SES, AA children scored lower on general intellectual ability and working memory (WM) at age 11 only if they experienced lower sleep efficiency at age 9. Further, boys scored lower on general abilities and processing speed (PS) at age 11 only if their sleep efficiency was lower at age 9. Findings indicate that lower sleep efficiency may contribute to lower cognitive functioning especially for AA children and boys. These vulnerabilities appear to emerge early in development and are maintained over time. Results underscore the importance of individual differences in explicating relations between sleep and children's cognitive performance. (PsycINFO Database Record
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