PMID- 35066749 OWN - NLM STAT- MEDLINE DCOM- 20221028 LR - 20221028 IS - 1559-0720 (Electronic) IS - 0163-4984 (Linking) VI - 200 IP - 11 DP - 2022 Nov TI - Possible Association Between Polymorphisms in ESR1, COL1A2, BGLAP, SPARC, VDR, and MMP2 Genes and Dental Fluorosis in a Population from an Endemic Region of West Bengal. PG - 4641-4653 LID - 10.1007/s12011-021-03072-8 [doi] AB - Dental fluorosis (DF) is the most prevalent form of fluorosis in India affecting millions of people all over the country. As estrogen receptor 1 (ESR1), collagen type 1 alpha 2 (COL1A2), bone gamma-carboxyglutamic acid protein (BGLAP), secreted protein acidic and cysteine-rich (SPARC), vitamin D receptor (VDR), and matrix metallopeptidase 2 (MMP2) genes play critical roles in bone metabolism, bone formation, mineral metabolism, and mineralization, variants in these genes could influence susceptibility to DF. The present study was aimed at evaluating the association between 15 single-nucleotide polymorphisms (SNPs) in the six candidate genes (namely, ESR1, COL1A2, BGLAP, SPARC, VDR, and MMP2) and DF among 132 individuals (case = 71 and control = 61) living in a fluoride endemic region of West Bengal, India. No statistically significant association with disease risk was found when the genotypes and allele frequencies of each of the 15 SNPs was analyzed individually using odd's ratio with 95% confidence interval. "CC" and "AG" haplotypes of the COL1A2 gene showed a borderline association with DF. The present study is the first in India to use multifactor dimensionality reduction (MDR) analysis for identifying gene-gene and gene-environment interactions in fluorosis. The biomarker of serum fluoride showed a significant association with the disease state among the 17 attributes (15 SNPs and 2 biomarkers of urine fluoride and serum fluoride) (P value = 0.011). The best model of MDR analysis with maximized testing accuracy involved two SNPs from the ESR1 gene (rs9340799 and rs2077647) and one SNP from BGLAP gene (rs1543294) (P value < 0.0001). CI - (c) 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature. FAU - Chakraborty, Arijit AU - Chakraborty A AD - Kolkata Zonal Centre, CSIR-National Environmental Engineering Research Institute, i-8 Sector-C, East Kolkata Township, Kolkata, 700107, India. FAU - Pramanik, Sreemanta AU - Pramanik S AUID- ORCID: 0000-0003-0448-2118 AD - Kolkata Zonal Centre, CSIR-National Environmental Engineering Research Institute, i-8 Sector-C, East Kolkata Township, Kolkata, 700107, India. sreemanta@gmail.com. FAU - Datta, Kallol AU - Datta K AD - National Institute of Biomedical Genomics, P.O. N.S.S., Kalyani, 741251, West Bengal, India. FAU - Goswami, Rakesh AU - Goswami R AD - Kolkata Zonal Centre, CSIR-National Environmental Engineering Research Institute, i-8 Sector-C, East Kolkata Township, Kolkata, 700107, India. FAU - Saha, Depanwita AU - Saha D AD - Kolkata Zonal Centre, CSIR-National Environmental Engineering Research Institute, i-8 Sector-C, East Kolkata Township, Kolkata, 700107, India. FAU - Majumdar, Kunal Kanti AU - Majumdar KK AD - Department of Community Medicine, KPC Medical College and Hospital, 1F Raja S. C. Mullick Road, Jadavpur, Kolkata, 700032, India. FAU - Sikdar, Nilabja AU - Sikdar N AD - Human Genetics Unit, Indian Statistical Institute, 203 B. T. Road, Baranagar, Kolkata, 700108, India. LA - eng GR - Project No. BT/PR8283/MED/12/619/2013/Department of Biotechnology , Ministry of Science and Technology/ PT - Journal Article DEP - 20220123 PL - United States TA - Biol Trace Elem Res JT - Biological trace element research JID - 7911509 RN - 0 (COL1A2 protein, human) RN - 0 (Collagen Type I, alpha2 Subunit) RN - K848JZ4886 (Cysteine) RN - 0 (Estrogen Receptor alpha) RN - Q80VPU408O (Fluorides) RN - EC 3.4.24.24 (Matrix Metalloproteinase 2) RN - 0 (Minerals) RN - EC 3.4.24.24 (MMP2 protein, human) RN - 104982-03-8 (Osteocalcin) RN - 0 (Osteonectin) RN - 0 (Receptors, Calcitriol) RN - 0 (SPARC protein, human) RN - 0 (VDR protein, human) RN - 0 (BGLAP protein, human) SB - IM MH - Humans MH - Cysteine MH - Estrogen Receptor alpha/genetics MH - Fluorides MH - *Fluorosis, Dental/epidemiology/genetics MH - Genetic Predisposition to Disease/genetics MH - Matrix Metalloproteinase 2/genetics MH - Minerals MH - Osteocalcin/genetics MH - Osteonectin/genetics MH - Polymorphism, Single Nucleotide/genetics MH - *Receptors, Calcitriol/genetics OTO - NOTNLM OT - Biomarker OT - Candidate gene OT - Dental fluorosis OT - Genetic association OT - Haplotype OT - Multifactor dimensionality reduction EDAT- 2022/01/24 06:00 MHDA- 2022/09/24 06:00 CRDT- 2022/01/23 20:38 PHST- 2021/11/10 00:00 [received] PHST- 2021/12/15 00:00 [accepted] PHST- 2022/01/24 06:00 [pubmed] PHST- 2022/09/24 06:00 [medline] PHST- 2022/01/23 20:38 [entrez] AID - 10.1007/s12011-021-03072-8 [pii] AID - 10.1007/s12011-021-03072-8 [doi] PST - ppublish SO - Biol Trace Elem Res. 2022 Nov;200(11):4641-4653. doi: 10.1007/s12011-021-03072-8. Epub 2022 Jan 23.