BACKGROUND Polymorphisms in the MUC5B promoter, TOLLIP , and nine additional genetic loci have been associated with idiopathic pulmonary fibrosis (IPF) within non-Hispanic white populations. It is ...unknown whether these variants account for risk of IPF in other racial/ethnic populations. We conducted a candidate single nucleotide polymorphism (SNP) association study in cohorts of Mexican and Korean patients with IPF. METHODS We chose 12 SNPs from 11 loci that are associated with IPF among non-Hispanic whites and genotyped these SNPs in cohorts of Mexican (83 patients, 111 control subjects) and Korean (239 patients, 87 control subjects) people. Each SNP was tested for association with IPF, after adjusting for age and sex. RESULTS The MUC5B promoter SNP rs35705950 was associated with IPF in the Mexican (OR = 7.36, P = .0001), but not the Korean ( P = .99) cohort. The SNP in IVD (chromosome15, rs2034650) was significantly associated with pulmonary fibrosis in both the Mexican (OR = 0.40, P = .01) and Korean (OR = 0.13, P = .0008) cohorts. In the Korean cohort, there were no other variants associated with disease. In the Mexican cohort, SNPs on chromosomes 3, 4, and 11 were also associated with disease. CONCLUSIONS The strongest identified genetic risk factor for IPF among the non-Hispanic white population, the MUC5B promoter polymorphism, is also a strong risk factor in a Mexican population, but is very rare in a Korean population. The majority of genetic variants that account for risk of IPF in groups other than non-Hispanic whites are unknown. Hispanic and Asian populations should be studied separately to identify genetic risk loci for IPF.
Quality of Life Paradox in Gastrointestinal Disorders van Tilburg, Miranda A.L., PhD; Murphy, Tasha B., PhD
The Journal of pediatrics,
2015, January 2015, 2015-Jan, 2015-01-00, 20150101, Volume:
166, Issue:
1
Journal Article
Peer reviewed
Open access
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Background More than 80% of patients with systemic sclerosis (SSc) develop lung involvement, most commonly interstitial pneumonia (IP). We recently identified a common variant in the promoter region ...of MUC5B (rs35705950) that has a significant effect on the risk of developing both familial and sporadic forms of IP. We hypothesized that this MUC5B promoter polymorphism is also associated with IP in subjects with SSc. Methods We examined the minor allele frequency of the MUC5B polymorphism among 231 subjects with SSc, 109 with IP, and 122 without IP. IP diagnosis was confirmed by HRCT imaging and defined as the presence of reticular infiltrates and/or honeycomb cysts. FVC and diffusing capacity of the lung for carbon monoxide (D lco ) were also assessed. Results We found no association between IP and the MUC5B polymorphism among subjects with SSc (OR = 1.1, P = .80). The frequencies of the MUC5B polymorphism among subjects with SSc with IP (10.6%) and without IP (9.4%) were similar to the frequency observed in a population of unaffected control subjects (9.0%). In secondary analyses, we found the MUC5B polymorphism was not significantly associated with either FVC ( P = .42) or D lco ( P = .06). No association with SSc-associated IP was found even when we used a more conservative definition of IP (FVC ≤ 70% and evidence of reticulations or honeycombing vs SSc FVC > 70% and no evidence of reticulation or honeycombing). Conclusions Although SSc-associated IP is clinically, radiologically, and histologically similar to other forms of IP, it appears to have distinct genetic risk factors. This study highlights the genetic and phenotypic heterogeneity of IP in general.
Abstract Background Estimating vaccination coverage is challenging in resource-poor settings where accurate records are sparse. Household surveys, a key source of coverage information, typically ...capture data from child health cards and rely on maternal recall when cards are unavailable. As a result, little is known about how coverage estimates based on maternal recall differ from those based on health cards for the same children. Furthermore, little is known about how these measures compare with actual rates of seroconversion, which could be used to estimate effective coverage of immunisations. This study compares the accuracy of maternal recall, health card documentation, and antibody presence in vaccination coverage estimates in the state of Chiapas, Mexico. Methods Data for this study were collected as part of the Mesoamerican Health Initiative 2015 baseline survey. A random sample of 4700 households with children under-5 and women of reproductive age were surveyed. A pre-survey census was carried out within segments that had been randomly selected with probability proportional to size. Standardised multilingual household surveys were implemented using netbooks. Anthropometric measurements were collected for all children under-5 and dry blood spot samples for the detection of measles antibodies were collected from children aged 12–23 months. Findings Preliminary results suggest that maternal recall, child health cards, and antibody tests generate differing estimates of immunisation coverage. Recall differs from card-based estimates of vaccination coverage by up to 40 percentage points. There are potentially considerable differences in measles immunisation coverage as assessed by the presence of measles antibodies versus other survey sources, highlighting weaknesses in card accuracy, card coverage, and vaccine administration. Interpretation Current national estimates of immunisation coverage based on the combination of maternal recall and children's health cards may be overestimating actual protection against vaccine-preventable diseases. Correcting for biases in recall and card coverage may produce more accurate estimates of intervention coverage. Funding Salud Mesoamerica 2015 is funded by the Bill & Melinda Gates Foundation, the Carlos Slim Health Institute, and the Government of Spain and is administered by the Inter-American Development Bank. The content is solely the responsibility of the authors and does not necessarily represent the official views of the funders or the Inter-American Development Bank.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
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