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1.
The Relationship Between Intact Parathyroid Hormone and 25-Hydroxyvitamin D in United Kingdom Resident South Asians and Whites: A Comparative, Cross-Sectional Observational Study.
Coley-Grant, D, Jawad, M, Ashby, HL, Cornes, MP, Kumar, B, Hallin, M, Nightingale, PG, Ford, C, Gama, R
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme. 2021;(10):672-675
Abstract
Ethnic differences in intact parathyroid hormone (iPTH) at similar total 25 hydroxyvitamin D [25(OH)D] concentrations have been reported between US resident Whites, Blacks, and Hispanics, but this has not been studied between South Asians and Whites. We, therefore, compared the iPTH relationship to 25(OH)D in UK resident South Asians and Whites. A comparative, cross-sectional observational study in which demographic and laboratory data on South Asian and White residents of Wolverhampton, UK were analyzed. Log-log models measured the association between 25(OH)D and the interaction term of ethnicity and iPTH. Seven hundred and seventy-two patients consisting of 315 white subjects (208 women) and 457 South Asian subjects (331 women) were studied. Compared to South Asians, White subjects were older, had higher serum concentrations of 25(OH)D, creatinine (lower eGFR), adjusted calcium and magnesium, but similar concentrations of iPTH and phosphate. In an adjusted model, variables significantly associated with 25(OH)D included age, creatinine, adjusted calcium and ethnicity; but not iPTH and the interaction term of ethnicity and iPTH (beta coefficient -0.071, 95% CI -0.209, 0.067, p=0.32). In our study cohort, iPTH was not, per se, influenced by 25 (OH)D. We found no ethnic differences in the association between iPTH and 25(OH)D between South Asians and White UK residents.
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2.
Ethnicity-dependent effects of Zinc finger 804A variant on schizophrenia: a systematic review and meta-analysis.
Wang, D, Wang, Y, Chen, Y, Yu, L, Fang, X, Liu, R, Wu, Z, Zhang, C
Psychiatric genetics. 2021;(1):21-28
Abstract
OBJECTIVES Previous studies and meta-analysis indicated that rs1344706 was associated with schizophrenia in European population, whereas the conclusions in other populations were disputed. To further explore whether the allele A of rs1344706 would increase the risk of schizophrenia in different populations and update the original meta-analysis, we conducted a systematic review and meta-analysis worldwide. METHODS A literature search was performed in PubMed, Embase, Cochrane Library, PsycINFO and Web of Science (up to 10 July 2019) according to the inclusion criteria. RESULTS A total of 27 articles were included. Our meta-analysis showed an association between rs1344706 and schizophrenia in total populations [P = 0.000; odds ratio (OR) = 1.105; 95% confidence interval (CI), 1.048-1.165], Europe population (P = 0.025; OR = 1.108; 95% CI, 1.013-1.222) and Asian population(P = 0.005; OR = 1.094; 95% CI, 1.027-1.164). CONCLUSIONS Our findings suggested that the risk of single nucleotide polymorphism rs1344706 A-allele may increase the risk of schizophrenia worldwide. Also, this ethnicity-dependent effects of ZNF804A variant on schizophrenia may be related to the opposite allele direction. But to elucidate the underlying biological mechanism, further studies with large participant populations are needed.
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3.
Pharmacoethnicity of FOLFIRINOX versus gemcitabine plus nab-paclitaxel in metastatic pancreatic cancer: a systematic review and meta-analysis.
Lee, YS, Lee, JC, Kim, JH, Kim, J, Hwang, JH
Scientific reports. 2021;(1):20152
Abstract
Treatment outcomes between FOLFIRINOX (5-fluorouracil, leucovorin, irinotecan, and oxaliplatin) and GNP (gemcitabine with albumin-bound paclitaxel) as first-line chemotherapy regimens for metastatic pancreatic cancer (PC) were assessed according to ethnic groups categorized as Western or Asian subgroups. PubMed, EMBASE, and Cochrane library were searched. Thirteen studies were eligible in this meta-analysis. Overall survival was not significantly different between FOLFIRINOX and GNP (HR 1.00, 95% CI 0.83-1.20, P = 0.990). However, the Western subgroup showed a higher survival benefit for FOLFIRINOX over GNP (HR 0.84, 95% CI 0.74-0.95, P = 0.006) whereas the Asian subgroup showed the survival benefit for GNP over FOLFIRINOX (HR 1.29, 95% CI 1.03-1.60, P = 0.030). Progression free survival was not significantly different between the two regimens in the Western subgroup (HR 1.01, 95% CI 0.84-1.20, P = 0.950) and the Asian subgroup (HR 1.13, 95% CI 0.97-1.33, P = 0.110). Occurrence of febrile neutropenia was significantly higher in FOLFIRINOX at both ethnic subgroups; however, that of peripheral neuropathy was significantly higher only in GNP of the Asian subgroup. Therefore, pharmacoethnicity might be a factor worth considering when deciding on a frontline chemotherapeutic regimen although the overall survival was not significantly different between FOLFIRINOX and GNP for metastatic PCs.
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4.
Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms.
Pio, MG, Siffo, S, Scheps, KG, Molina, MF, Adrover, E, Abelleyro, MM, Rivolta, CM, Targovnik, HM
Molecular and cellular endocrinology. 2021;:111359
Abstract
Thyroglobulin (TG) is a large glycosylated protein of 2767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid hormone synthesis. TG gene variants lead to permanent congenital hypothyroidism. In the present work, we report a detailed population and bioinformatic prediction analyses of the TG variants indexed in the Genome Aggregation Database (gnomAD). The results showed a clear predominance of nonsense variants in the European (Finnish), European (Non-Finnish) and Ashkenazi Jewish ethnic groups, whereas the splice site variants predominate in South Asian and African/African-American populations. In total, 282 novel TG variants were described (47 missense involving the wild-type cysteine residues, 177 missense located in the ChEL domain and 58 splice site variants) which were not reported in the literature and that would have deleterious effects in prediction programs. In the gnomAD population, the estimated prevalence of heterozygous carriers of the potentially damaging variants was 1:320. In conclusion, we provide an updated and curated reference source for the diagnosis of thyroid disease, mainly to congenital hypothyroidism due to TG deficiency. The identification and characterization of TG variants is undoubtedly a valuable approach to study the TG structure/function relations and an important tool for clinical diagnosis and genetic counseling.
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5.
Impact of NR5A2 and RYR2 3'UTR polymorphisms on the risk of breast cancer in a Chinese Han population.
Wei, Y, Wang, X, Zhang, Z, Zhao, C, Chang, Y, Bian, Z, Zhao, X
Breast cancer research and treatment. 2020;(1):1-8
Abstract
OBJECTIVES The NR5A2 and RYR2 genes are important players in steroid metabolism and play an important role in cancer research. In this research, we want to evaluate the effect of NR5A2 and RYR2 polymorphisms on breast cancer (BC). METHODS Four single nucleotide polymorphisms on NR5A2 and RYR2 were selected to genotype by Agena MassARRAY in 379 BC patients and 407 healthy controls. Using the PLINK software to calculate the Odds ratio (OR) and 95% confidence intervals (CIs) via the logistic regression analysis to evaluate the risk for BC. RESULTS We found that NR5A2 rs2246209 significantly decreased the risk of BC with the AA genotype (OR 0.58, 95%CI 0.34-0.99, p = 0.049), and recessive model (OR 0.59, 95%CI 0.35-0.99, p = 0.046); rs12594 in the RYR2 gene significantly decreased the risk of BC in the GG genotype (OR 0.44, 95%CI 0.22-0.88, p = 0.020), and recessive model (OR 0.43, 95%CI 0.21-0.85, p = 0.016). Further stratification analysis showed that NR5A2 rs2246209 was related to a lower incidence of BC affected by age, lymph nodes metastasis, and tumor stage; RYR2 rs12594 was related to a decreased BC risk restricted by age, estrogen receptor (ER), progesterone receptor (PR), menopausal status, tumor size, and tumor stage. Rs12594 in the RyR2 gene remained significant on the genetic susceptibility of PR-positive BC after Bonferroni correction (p < 0.0125). CONCLUSIONS This study provides an evidence that NR5A2 rs2246209 and RYR2 rs12594 decreased the risk of breast cancer.
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6.
Genetic diversity of HLA system in three populations from Guanajuato, Mexico: Guanajuato City, León and rural Guanajuato.
Pantoja-Torres, JA, Barquera, R, Ballesteros-Romero, M, Bravo-Acevedo, A, Arrieta-Bolaños, E, Montiel-Hernández, GD, Clayton, S, Rodríguez-Rodríguez, LI, Hernández-Zaragoza, DI, Goné-Vázquez, I, et al
Human immunology. 2020;(9):510-512
Abstract
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 262 Mexicans from the state of Guanajuato living in the cities of Guanajuato (N = 78), León (N = 22) and rural communities (N = 162), to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes found in the state of Guanajuato include 12 Native American and three European haplotypes. Admixture estimates revealed that the main genetic components in the state of Guanajuato are Native American (50.64 ± 2.11% by ML, 43.35% of Native American haplotypes) and European (44.14 ± 1.14% by ML; 39.35% of European haplotypes), while African genetic component is less apparent (5.22 ± 2.08% by ML; 8.36% of African haplotypes).
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7.
Genetic diversity of HLA system in two populations from Tabasco, Mexico: Villahermosa and rural Tabasco.
Solís-Martínez, R, Barquera, R, Ponnandai-Shanmugavel, KS, Vega-Martínez, MDR, Vázquez-Castillo, TV, Arrieta-Bolaños, E, Clayton, S, Hernández-Zaragoza, DI, Bravo-Acevedo, A, Immel, A, et al
Human immunology. 2020;(9):560-562
Abstract
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 224 Mexicans from the state of Tabasco living in the city of Villahermosa (N = 82) and rural communities (N = 142), to obtain information regarding allelic and haplotypic frequencies. We found that the most frequent haplotypes in Tabasco include 13 Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in Tabasco are Native American (67.79 ± 1.59% by ML; 56.25% of Native American haplotypes) and European (27.21 ± 3.97% by ML; 29.91% of European haplotypes), and a less prominent African genetic component (5.01 ± 4.42% by ML; 8.93% of African haplotypes).
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8.
Genetic diversity of HLA system in two populations from Michoacán, Mexico: Morelia and rural Michoacán.
Ballesteros-Romero, M, Barquera, R, Rodríguez-López, ME, Hernández-Zaragoza, DI, Goné-Vázquez, I, Clayton, S, Arrieta-Bolaños, E, Escobedo-Ruíz, A, Pantoja-Torres, JA, García-Arias, VE, et al
Human immunology. 2020;(9):506-509
Abstract
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 498 Mexicans from the state of Michoacán living in the city of Morelia (N = 150) and rural communities (N = 348), to obtain information regarding allelic and haplotypic frequencies. We find that the ten most frequent haplotypes found in the state of Michoacán include 12 Native American and two European haplotypes. Admixture estimates revealed that the main genetic components in the state of Michoacán are Native American (48.79 ± 1.44%) and European (43.10 ± 0.86%), while African genetic component is less apparent (8.11 ± 0.85%). Our findings add to the growing knowledge on the population genetics of Western Mexico and provide new HLA data on populations from Michoacán.
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9.
Racial/ethnic differences in circulating natriuretic peptide levels: The Diabetes Prevention Program.
Gupta, DK, Walford, GA, Ma, Y, Jarolim, P, Wang, TJ, ,
PloS one. 2020;(2):e0229280
Abstract
Natriuretic peptides are cardiac-derived hormones that enhance insulin sensitivity and reduce fat accumulation. Low natriuretic peptide levels are associated with increased risk of type 2 diabetes mellitus (DM2); a condition with variable prevalence across racial/ethnic groups. Few studies have examined whether circulating natriuretic peptide levels and their response to preventive interventions for DM2 differ by race/ethnicity. The Diabetes Prevention Program (DPP) is a clinical trial (July 31, 1996- July 31, 2001) that randomized participants to preventive interventions for DM2. Using stored serum samples, we examined N-terminus pro-B-type natriuretic peptide (NT-proBNP) levels in 3,220 individuals (56% white; 19% African-American; 15% Hispanic; 5% American-Indian; 5% Asian). The influence of race/ethnicity on NT-proBNP concentrations at baseline and after two years of treatment with placebo, lifestyle, or metformin was examined with multivariable-adjusted regression. At baseline, NT-proBNP differed significantly by race (P < .001), with the lowest values in African-American individuals. Hispanic individuals also had lower baseline NT-proBNP levels compared with whites (P< .001), while NT-proBNP levels were similar between white, American-Indian, and Asian individuals. At two years of follow-up, NT-proBNP levels decreased in African-Americans in each of the DPP study arms, whereas they were stable or increased in the other racial/ethnic groups. In the DPP, African-American individuals had lower circulating NT-proBNP levels compared with individuals in other racial/ethnic groups at baseline and after two years of preventive interventions. Further studies should examine the cardio-metabolic implications of lower natriuretic peptide levels in African-Americans. Trial Registration: ClinicalTrials.gov NCT00004992.
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10.
Genetic diversity of HLA system in two populations from Colima, Mexico: Colima city and rural Colima.
Barquera, R, Hernández-Zaragoza, DI, Arellano-Prado, FP, Goné-Vázquez, I, Clayton, S, Arrieta-Bolaños, E, Escobedo-Ruíz, A, García-Arias, VE, Bravo-Acevedo, A, Rodríguez-López, ME, et al
Human immunology. 2020;(9):513-515
Abstract
We studied HLA class I (HLA-A, -B) and class II (HLA-DRB1, -DQB1) alleles by PCR-SSP based typing in 104 Mexicans from the state of Colima living in the city of Colima (N = 61) and rural communities (N = 43), to obtain information regarding allelic and haplotypic frequencies. We find that the most frequent haplotypes in the state of Colima include eight Native American, two European and one African haplotype. Admixture estimates revealed that the main genetic components in the state are Native American (52.74 ± 3.88% by ML; 48.10% of Native American haplotypes) and European (37.52 ± 8.94% by ML; 26.66% of European haplotypes), and a relatively high African genetic component (9.74 ± 8.40% by ML; 11.91% of African haplotypes).