Gene-environment interaction in molar-incisor hypomineralization

Molar incisor hypomineralization (MIH) is an enamel condition characterized by lesions ranging in color from white to brown which present rapid caries progression, and mainly affects permanent first molars and incisors. These enamel defects usually occur when there are disturbances during the mineralization or maturation stage of amelogenesis. Both genetic and environmental factors have been suggested to play roles in MIH’s development, but no conclusive risk factors have shown the source of the disease. During head and neck development, the interferon regulatory factor 6 (IRF6) gene is involved in the structure formation of the oral and maxillofacial regions, and the transforming growth factor alpha (TGFA) is an essential cell regulator, acting during proliferation, differentiation, migration and apoptosis. In this present study, it was hypothesized that these genes interact and contribute to predisposition of MIH. Environmental factors affecting children that were 3 years of age or older were also hypothesized to play a role in the disease etiology. Those factors included respiratory issues, malnutrition, food intolerance, infection of any sort and medication intake. A total of 1,065 salivary samples from four different cohorts were obtained, and DNA was extracted from each sample and genotyped for nine different single nucleotide polymorphisms. Association tests and logistic regression implemented in PLINK were used for analyses. A potential interaction between TGFA rs930655 with all markers tested in the cohort from Turkey was identified. These interactions were not identified in the remaining cohorts. Associations (p<0.05) between the use of medication after three years of age and MIH were also found, suggesting that conditions acquired at the age children start to socialize might contribute to the development of MIH.

Download Full-text

Gene–gene and gene-environment interactions on cord blood total IgE in Chinese Han children

Allergy Asthma & Clinical Immunology ◽

10.1186/s13223-021-00571-0 ◽

2021 ◽

Vol 17 (1) ◽

Author(s):

Li Hua ◽

Quanhua Liu ◽

Jing Li ◽

Xianbo Zuo ◽

Qian Chen ◽

...

Keyword(s):

Environmental Factors ◽

Cord Blood ◽

Synergistic Effects ◽

Gene Interaction ◽

Independent Effect ◽

Environment Interaction ◽

Nucleotide Polymorphisms ◽

Chinese Han ◽

Gene Environment Interaction ◽

Gene Environment

Abstract Background IL13, IL4, IL4RA, FCER1B and ADRB2 are susceptible genes of asthma and atopy. Our previous study has found gene–gene interactions on asthma between these genes in Chinese Han children. Whether the interactions begin in fetal stage, and whether these genes interact with prenatal environment to enhance cord blood IgE (CBIgE) levels and then cause subsequent allergic diseases have yet to be determined. This study aimed to determine whether there are gene–gene and gene-environment interactions on CBIgE elevation among the aforementioned five genes and prenatal environmental factors in Chinese Han population. Methods 989 cord blood samples from a Chinese birth cohort were genotyped for nine single-nucleotide polymorphisms (SNPs) in the five genes, and measured for CBIgE levels. Prenatal environmental factors were collected using a questionnaire. Gene–gene and gene-environment interactions were analyzed with generalized multifactor dimensionality methods. Results A four-way gene–gene interaction model (IL13 rs20541, IL13 rs1800925, IL4 rs2243250 and ADRB2 rs1042713) was regarded as the optimal one for CBIgE elevation (testing balanced accuracy = 0.5805, P = 9.03 × 10–4). Among the four SNPs, only IL13 rs20541 was identified to have an independent effect on elevated CBIgE (odds ratio (OR) = 1.36, P = 3.57 × 10–3), while the other three had small but synergistic effects. Carriers of IL13 rs20541 TT, IL13 rs1800925 CT/TT, IL4 rs2243250 TT and ADRB2 rs1042713 AA were estimated to be at more than fourfold higher risk for CBIgE elevation (OR = 4.14, P = 2.69 × 10–2). Gene-environment interaction on elevated CBIgE was found between IL4 rs2243250 and maternal atopy (OR = 1.41, P = 2.65 × 10–2). Conclusions Gene–gene interaction between IL13 rs20541, IL13 rs1800925, IL4 rs2243250 and ADRB2 rs1042713, and gene-environment interaction between IL4 rs2243250 and maternal atopy begin in prenatal stage to augment IgE production in Chinese Han children.

Download Full-text

Exploring the association between genetic and environmental factors and molar incisor hypomineralization: evidence from a twin study

International Journal of Paediatric Dentistry ◽

10.1111/ipd.12327 ◽

2017 ◽

Vol 28 (2) ◽

pp. 198-206 ◽

Cited By ~ 22

Author(s):

Rafael José Pio Barbosa Teixeira ◽

Natália Silva Andrade ◽

Lisanca Carvalho Cavalcante Queiroz ◽

Fausto Medeiros Mendes ◽

Marcoeli Silva Moura ◽

...

Keyword(s):

Environmental Factors ◽

Twin Study ◽

Molar Incisor Hypomineralization ◽

Genetic And Environmental Factors

Download Full-text

Novel Insights on Genetic and Environmental Factors in Parkinson's Disease from a regional Swedish Case-Control Cohort

10.1101/2021.06.18.21259024 ◽

2021 ◽

Author(s):

Kajsa Brolin ◽

Sara Bandres Ciga ◽

Cornelis Blauwendraat ◽

Hakan Widner ◽

Per Odin ◽

...

Keyword(s):

Parkinson’S Disease ◽

Parkinson's Disease ◽

Environmental Factors ◽

Environmental Exposures ◽

Case Control ◽

Risk Haplotype ◽

Control Cohort ◽

Disease Etiology ◽

Continental Scale ◽

Genetic And Environmental Factors

BACKGROUND: Risk factors for Parkinson's disease (PD) can be more or less relevant to a population due to population-specific genetic architecture, local lifestyle habits, and environmental exposures. Therefore, it is essential to study PD at a local, regional, and continental scale in order to increase the knowledge on disease etiology. OBJECTIVE: We aimed to investigate the contribution of genetic and environmental factors to PD in a new Swedish case-control cohort. METHODS: PD patients (n=929) and matched population-based controls (n=935) from the southernmost county in Sweden were included in the cohort. Information on environmental exposures was obtained using questionnaires at inclusion. Genetic analyses included a genome-wide association study (GWAS), haplotype assessment, and a risk profile analysis using cumulative genetic risk scores. RESULTS: The cohort is a representative PD case-control cohort (64% men, mean age at diagnosis = 67 years, median Hoehn and Yahr score = 2.0), in which previously reported associations between PD and environmental factors, such as tobacco, could be confirmed. We describe the first GWAS of PD solely composed of PD patients from Sweden, and confirm associations to well-established risk alleles in SNCA. In addition, we identified a potential novel, population-specific PD risk variant in the PLPP4 locus (rs12771445) along with a risk haplotype in the region. CONCLUSIONS: This work provides an in-depth description of a new PD case-control cohort from southern Sweden in which we identified a potential novel PD risk locus, PLPP4. Replication studies are needed to determine whether the PLPP4 locus is associated with PD in Sweden, and on a global scale.

Download Full-text

Genetic and environmental factors affecting some measures of yield and fertility in a registered Canadian Holstein dairy herd in Iran

Proceedings of the British Society of Animal Science ◽

10.1017/s1752756200008462 ◽

2002 ◽

Vol 2002 ◽

pp. 190-190

Author(s):

Ali Toosi

Keyword(s):

Environmental Factors ◽

Genetic Parameters ◽

Dairy Herd ◽

Cattle Breeding ◽

Factors Affecting ◽

Lactation Curve ◽

Dairy Cattle Breeding ◽

Important Trait ◽

Genetic And Environmental Factors ◽

Production Characteristics

Milk production is the most important trait in dairy cattle breeding. Measures of additional traits are also important. Traits of lactation curve are important in their relation to production characteristics. The two major reasons for which dairy cows are disposed are fertility problems and low milk yield (Hansen et al.,1983). The objectives of this study were 1) To evaluate effects of some environmental factors on some measures of yield and fertility, and 2) To estimate genetic parameters for these traits applying REML procedures under sire model.

Download Full-text

Study of rs12532, rs8670 Polymorphism of Msh Homeobox 1 (MSX1), rs61754301, rs4904155 Polymorphism of Paired Box Gene 9 (PAX9), and rs2240308 Polymorphism of Axis Inhibitor Protein 2 (AXIN2) Genes in Nonsyndromic Hypodontia

BioMed Research International ◽

10.1155/2019/2183720 ◽

2019 ◽

Vol 2019 ◽

pp. 1-7 ◽

Cited By ~ 1

Author(s):

Krisztina Mártha ◽

Bernadette Kerekes Máthé ◽

Valeriu George Moldovan ◽

Claudia Bănescu

Keyword(s):

Environmental Factors ◽

Genetic Background ◽

Orthodontic Treatment ◽

Statistical Significance ◽

Nucleotide Polymorphisms ◽

Inhibitor Protein ◽

Single Nucleotide ◽

Variant Genotype ◽

Genetic And Environmental Factors ◽

Age And Sex

The etiology of hypodontia is complex, in which both genetic and environmental factors can be related. The main objective of our study was to contribute to elucidating the genetic background of nonsyndromic hypodontia (NSH). In this order, we selected 97 NSH subjects (70 females and 27 males) from patients referred to orthodontic treatment, and we matched to each NSH subject a control by age and sex. DNA was obtained from epithelial cells from the oral mucosa. Genotyping of the PAX9 (rs4904155 and rs61754301), MSX1 (rs8670 and rs12532), and AXIN2 (rs2240308) SNPs was performed by using TaqMan SNP Genotyping Assays on a real-time PCR system. Single-nucleotide polymorphisms (SNPs) were studied for the whole NSH group and for frontal and lateral agenesis NSH subjects separately. Our results showed that the variant genotype (p=0.0008, OR = 2.9, 95% CI = 1.58–5.3) and variant T allele (p=0.0002, OR = 2.65, 95% CI = 1.6–4.39) of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population when the whole NSH group was compared with controls. The variant genotype of the MSX1 rs8670 SNP was the most frequent in frontal agenesis; meanwhile in the lateral agenesis NSH group, the AXIN2 rs2240308 SNP showed a higher frequency of the variant genotype, with a trend towards statistical significance. In conclusion, the results of the present study showed that the variant genotype and variant T allele of the MSX1 rs8670 SNP increased the risk of hypodontia in the studied population. The presence of the variant A allele of AXIN2 rs2240308 is associated with frontal agenesis but not with lateral agenesis.

Download Full-text