Dataset Information

Marked differences in frequencies of statin therapy relevant SLCO1B1 variants and haplotypes between Roma and Hungarian populations.

ABSTRACT: SLCO1B1 polymorphisms are relevant in statin pharmacokinetics. Aim of this study was to investigate the genetic variability and haplotype profile of SLCO1B1 polymorphisms in Roma and Hungarian populations. Genotypes of 470 Roma and 442 Hungarian subjects for c.388A > G, c.521T > C and c.1498-1331T > C polymorphisms were determined by PCR-RFLP assay. Using these SNPs eight different haplotypes could be differentiated.Differences were found between Roma and Hungarians in SLCO1B1 388AA (24.5 vs. 45.5 %), GG (33.4 vs. 17.9 %) genotypes, AG + GG (75.5 vs. 54.5 %) carriers, in G allele frequency (0.545 vs. 0.362), respectively (p < 0.001). The most common SLCO1B1 haplotype was the ht8 (GTT) both in Roma (43.6 %) and in Hungarian (59.1 %) samples. The ht6 (GCT) was not present in Roma population samples Haplotype analyses showed striking differences between the Roma and Hungarian samples in ht4 (ATT, 37.2 % vs 20.8 %), ht5 (GCC, 1.15 % vs. 3.62 %) and ht8 (GTT, 43.6 % vs. 59.1 %) haplotypes (p < 0.01), respectively. Linkage disequilibrium analysis showed that the studied variants are in different linkage disequilibrium patterns depending on the ethnic origin.Similarly to Caucasians the 388G is the minor allele in Hungarians, however, in Roma the 388A was found to be the minor allele contrary to Indians (India). The minor allele frequency of 521T > C and 1498-1331T > C SNPs are almost three times higher in Romas than in Indians (Singapore and Gujarati, respectively). Observed allele frequency for 1498-1331T > C polymorphism reflects the measured average European rates in Hungarians. The results can be applied in population specific treatment algorithms when developing effective programs for statin therapy.

SUBMITTER: Nagy A

PROVIDER: S-EPMC4559300 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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Marked differences in frequencies of statin therapy relevant SLCO1B1 variants and haplotypes between Roma and Hungarian populations.

Nagy Agnes A Sipeky Csilla C Szalai Renata R Melegh Bela Imre BI Matyas Petra P Ganczer Alma A Toth Kalman K Melegh Bela B

BMC genetics 20150903

<h4>Background</h4>SLCO1B1 polymorphisms are relevant in statin pharmacokinetics. Aim of this study was to investigate the genetic variability and haplotype profile of SLCO1B1 polymorphisms in Roma and Hungarian populations. Genotypes of 470 Roma and 442 Hungarian subjects for c.388A > G, c.521T > C and c.1498-1331T > C polymorphisms were determined by PCR-RFLP assay. Using these SNPs eight different haplotypes could be differentiated.<h4>Results</h4>Differences were found between Roma and Hunga ...[more]

PMID: 26334733

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Project description:Diabetes mellitus is a major public health problem with a wide range of prevalence among different ethnic groups. Early recognition of pre-diabetes is important to prevent the development of the disease, its complications, co-morbidities, and consequently early death. Insulin resistance (IR) is considered a condition that precedes type 2 diabetes; thus, understanding its underlying causes (genetic and non-genetic factors) will bring us closer to preventing it. The present study aimed to investigate the genetic susceptibility to IR and its impact on estimated longevity in populations with different ethnic origins using randomly selected samples of 372 Hungarian general (HG, as a reference with Caucasian origin) and 334 Roma participants (largest ethnic minority in Europe, with a northern India origin). In the present study, we used the Homeostasis Model Assessment—Insulin Resistance (HOMA—IR) to identify people with IR (>3.63) at the population level. To investigate the genetic predisposition to IR, 29 single nucleotide polymorphisms (SNPs) identified in a systematic literature search were selected and genotyped in sample populations. In the analyses, the adjusted p < 0.0033 was considered significant. Of these 29 SNPs, the commutative effects of 15 SNPs showing the strongest association with HOMA—IR were used to calculate an optimized genetic risk score (oGRS). The oGRS was found nominally significantly (p = 0.019) higher in the Roma population compared to HG one, and it was more strongly correlated with HOMA—IR. Therefore, it can be considered as a stronger predictor of the presence of IR among the Roma (AUCRoma = 0.673 vs. AUCHG = 0.528). Furthermore, oGRS also showed a significant correlation with reduced estimated longevity in the Roma population (β = −0.724, 95% CI: −1.230−−0.218; p = 0.005), but not in the HG one (β = 0.065, 95% CI: −0.388−0.518; p = 0.779). Overall, IR shows a strong correlation with a genetic predisposition among Roma, but not in the HG population. Furthermore, the increased genetic risk of Roma is associated with shorter estimated longevity, whereas this association is not observed in the HG one. Increased genetic susceptibility of Roma to IR should be considered in preventive programs targeting the development of type 2 diabetes, which may also reduce the risk of preventable premature death among them.

Project description:The Roma populations in Central and Eastern Europe are two to three times more likely to have unmet health needs compared to non-Roma residents. The aim of the present study was to investigate the disparity in screening attendance between Hungarian-speaking Roma (R) and non-Roma (nR) women in Hungary (HU-R:322; nR:294), Romania (RO-R:258; nR:183), and Slovakia (SK-R:146; nR:163), while also identifying the factors that influence attendance at any kind of screening tests in both populations. In order to examine these factors, a multiple binary logistic regression was conducted. The findings revealed significant associations between attendance at any kind of screening tests and certain factors among different groups. Among Hungarian Roma women, it was found that having a chronic disease and smoking were linked to attendance at any kind of screening tests (p = 0.009). Specifically, having a chronic disease increased the odds of attendance (OR = 1.71 [1.01, 2.90]), while smoking decreased the odds (OR = 0.57[0.365, 0.91]). In Romania, the study found that not having health insurance decreased the odds of attendance among Roma women (OR = 0.50 [0.27, 0.91]), whereas having a chronic disease increased the odds (OR = 2.87 [1.44, 5.72]) (p = 0.006). Among non-Roma women in Romania, physical inactivity was associated with a decreased likelihood of attendance at any kind of screening tests (OR = 0.48 [0.25, 0.95]). Among Slovakian Roma women, not having health insurance (OR = 0.09[0.02, 0.36]) and smoking (OR = 0.25[0.11, 0.61]) were found to decrease the odds of attendance (p < 0.001). On the other hand, non-Roma women in Slovakia with chronic diseases were more likely to attend at any kind of screening tests (OR = 2.52[1.12, 5.66]). Our research emphasizes the impact of lacking health insurance on screening attendance, particularly among the Roma population. It also highlights the significance of health-related behaviours such as smoking and physical inactivity in relation to missed screening tests, which in turn contribute to the development of non-communicable diseases. Therefore, promoting targeted screening programs for the Roma community is crucial to ensure their access to screening tests, especially in cases of chronic illnesses.

Dataset Information

Marked differences in frequencies of statin therapy relevant SLCO1B1 variants and haplotypes between Roma and Hungarian populations.

Publications

Marked differences in frequencies of statin therapy relevant SLCO1B1 variants and haplotypes between Roma and Hungarian populations.

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