| Literature DB >> 31890803 |
Evgeny Reshetnikov1, Maria Abramova1, Irina Ponomarenko1, Alexey Polonikov2, Irina Verzilina1, Inna Sorokina1, Inna Aristova1, Anna Yermachenko3,4, Volodymyr Dvornyk5, Mikhail Churnosov1.
Abstract
Data on the allele and genotype frequencies of the five single nucleotide polymorphisms (SNPs) 5 genes - rs1514175 TNNI3K, rs713586 RBJ, rs887912 FANCL, rs2241423 MAP2K5, rs12444979 GPRC5B in Russian women are presented. Several genome-wide association studies identified these SNPs could be significant genetic markers associated with body mass index (BMI). Standard methods were used for collecting of the anthropometric characteristics (height and weight). We calculated the frequencies of alleles and genotypes of five SNPs in 5 groups: all samples, underweight (BMI<18.50), normal weight (18.50-24.99), overweight (25.00-29.99), obese (>30.00).Entities:
Keywords: Body mass index; FANCL; GPRC5B; MAP2K5; RBJ; Single nucleotide polymorphism; TNNI3K; Women
Year: 2019 PMID: 31890803 PMCID: PMC6931107 DOI: 10.1016/j.dib.2019.104962
Source DB: PubMed Journal: Data Brief ISSN: 2352-3409
The frequencies of alleles and genotypes for single nucleotide polymorphisms (SNPs) rs1514175 TNNI3K, rs713586 RBJ, rs887912 FANCL, rs2241423 MAP2K5, rs12444979 GPRC5B in the sample of Russian women.
| SNP genotype or allele | All (n = 716) | Body mass index | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| n | frequency | Mean, kg/m2 | underweight (BMI<18.50) (n = 40) | normal weight (18.50–24.99) (n = 445) | overweight (25.00–29.99) (n = 159) | obese (>30.00) (n = 72) | ||||||
| n | frequency | n | frequency | n | frequency | n | frequency | |||||
| rs1514175 | ||||||||||||
| CC | 275 | 0.3841 | 23.84 ± 4.46 | 21 | 0.5250 | 173 | 0.3888 | 59 | 0.3710 | 22 | 0.3056 | |
| CT | 331 | 0.4623 | 24.16 ± 4.37 | 11 | 0.2750 | 206 | 0.4629 | 70 | 0.4403 | 44 | 0.6111 | |
| TT | 110 | 0.1536 | 23.13 ± 3.70 | 8 | 0.2000 | 66 | 0.1483 | 30 | 0.1887 | 6 | 0.0833 | |
| C | 881 | 0.6152 | – | 53 | 0.6625 | 552 | 0.6202 | 188 | 0.5912 | 88 | 0.6111 | |
| T | 551 | 0.3848 | – | 27 | 0.3375 | 338 | 0.3798 | 130 | 0.4088 | 56 | 0.3889 | |
| rs713586 RBJ | ||||||||||||
| TT | 238 | 0.3324 | 23.61 ± 4.13 | 18 | 0.4500 | 146 | 0.3281 | 49 | 0.3082 | 25 | 0.3472 | |
| TC | 340 | 0.4749 | 24.08 ± 4.65 | 18 | 0.4500 | 212 | 0.4764 | 73 | 0.4591 | 37 | 0.5139 | |
| CC | 138 | 0.1927 | 23.92 ± 3.74 | 4 | 0.1000 | 87 | 0.1955 | 37 | 0.2327 | 10 | 0.1389 | |
| T | 816 | 0.5698 | – | 54 | 0.6750 | 504 | 0.5663 | 171 | 0.5377 | 87 | 0.6042 | |
| C | 616 | 0.4302 | – | 26 | 0.3250 | 386 | 0.4337 | 147 | 0.4623 | 57 | 0.3958 | |
| rs887912 | ||||||||||||
| GG | 437 | 0.6103 | 23.96 ± 4.47 | 27 | 0.6750 | 270 | 0.6067 | 95 | 0.5975 | 45 | 0.6250 | |
| GA | 238 | 0.3324 | 23.68 ± 4.19 | 12 | 0.3000 | 152 | 0.3416 | 50 | 0.3145 | 24 | 0.3333 | |
| AA | 41 | 0.0573 | 24.11 ± 3.30 | 1 | 0.0250 | 23 | 0.0517 | 14 | 0.0880 | 3 | 0.0417 | |
| G | 1112 | 0.7765 | – | 66 | 0.8250 | 692 | 0.7775 | 240 | 0.7547 | 114 | 0.7917 | |
| A | 320 | 0.2235 | – | 14 | 0.1750 | 198 | 0.2225 | 78 | 0.2453 | 30 | 0.2083 | |
| rs2241423 | ||||||||||||
| GG | 474 | 0.6620 | 23.81 ± 4.11 | 27 | 0.6750 | 288 | 0.6471 | 115 | 0.7233 | 44 | 0.6111 | |
| GA | 213 | 0.2975 | 23.93 ± 4.65 | 11 | 0.2750 | 141 | 0.3169 | 37 | 0.2327 | 24 | 0.3333 | |
| AA | 29 | 0.0405 | 24.72 ± 5.17 | 2 | 0.0500 | 16 | 0.0360 | 7 | 0.0440 | 4 | 0.0556 | |
| G | 1161 | 0.8108 | – | 65 | 0.8125 | 717 | 0.8056 | 267 | 0.8396 | 112 | 0.7778 | |
| A | 271 | 0.1892 | – | 15 | 0.1875 | 173 | 0.1944 | 51 | 0.1604 | 32 | 0.2222 | |
| rs12444979 | ||||||||||||
| CC | 524 | 0.7318 | 23.99 ± 4.36 | 29 | 0.7250 | 320 | 0.7191 | 118 | 0.7421 | 57 | 0.7917 | |
| CT | 175 | 0.2444 | 23.56 ± 4.25 | 11 | 0.2750 | 114 | 0.2562 | 37 | 0.2327 | 13 | 0.1805 | |
| TT | 17 | 0.0238 | 23.96 ± 3.79 | – | – | 11 | 0.0247 | 4 | 0.0252 | 2 | 0.0278 | |
| C | 1223 | 0.8541 | – | 69 | 0.8625 | 754 | 0.8472 | 273 | 0.8585 | 127 | 0.8819 | |
| T | 209 | 0.1459 | – | 11 | 0.1375 | 136 | 0.1528 | 45 | 0.1415 | 17 | 0.1181 | |
The literature data about associations of the studied polymorphisms with body mass index and obesity.
| Chr (1) | SNP (2 | Gene/Region | Phenotype | Association (significance) (associated allele/genotype) | Reference |
|---|---|---|---|---|---|
| 1 | rs1514175 | [ | |||
| [ | |||||
| Body mass index | 0.20 kg/m2 (p = 7.7 × 10−4) (A) | [ | |||
| 2 | rs713586 | [ | |||
| 2 | rs887912 | [ | |||
| [ | |||||
| [ | |||||
| 15 | rs2241423 | ||||
| Obesity | OR = 0.79 (p = 0.029) (A) | [ | |||
| Body mass index | −0.092 unit (p = 0.028) (A) | [ | |||
| Children obesity | (p < 0.005) | [ | |||
| Obesity | OR = 1.34 (0.001) (G) | [ | |||
| Adulthood body mass index | (p < 0.05) | [ | |||
| Body mass index | 0.11 kg/m2 (p = 0.028) (G) | [ | |||
| 16 | rs12444979 | [ | |||
| Body mass index | (p < 0.05) | [ | |||
| Body mass index (EA) | (p = 0.014) | [ | |||
| Body fat mass (EA) | (p = 0.002) | [ |
Note: The data from the GWAS are shown in bold.
Regulatory effects of the 5 SNPs of the TNNI3K, RBJ, FANCL, MAP2K5, and GPRC5B genes (HaploReg, v4.1, update November 05, 2015) (https://pubs.broadinstitute.org/mammals/haploreg/haploreg.php).
| chr | pos (hg38) | variant | Reference allele | Alternative allele | AFR | AMR | ASN | EUR | SiPhy | Promoter | Enhancer | DNAse | Proteins | Motifs | NHGRI/EBI | GRASP QTL | Selected eQTL | GENCODE | dbSNP |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 74525960 | rs1514175 | A | G | 0.31 | 0.42 | 0.2 | 0.56 | ESC, ESDR, IPSC | COMP1,ERalpha-a | 2 hits | 2 hits | FPGT-TNNI3K | intronic | |||||
| 2 | 24935139 | rs713586 | T | C | 0.9 | 0.43 | 0.46 | 0.46 | Pbx3,SP2,TATA | 1 hit | 3 hits | 34 hits | 8.5kb 3′ of DNAJC27 | ||||||
| 2 | 59075742 | rs887912 | T | C | 0.94 | 0.83 | 1 | 0.73 | Hoxa5,Znf143 | 3 hits | 12kb 3′ of AC007092.1 | ||||||||
| 15 | 67794500 | rs2241423 | G | A | 0.4 | 0.43 | 0.6 | 0.23 | IPSC | 1 hit | 1 hit | 16 hits | MAP2K5 | intronic | |||||
| 16 | 19922278 | rs12444979 | C | T | 0.09 | 0.06 | 0 | 0.12 | LBP-1 | 1 hit | 70 hits | 32kb 3′ of AC134300.1 |
The cis-eQTL values of the 5 SNPs of the TNNI3K, RBJ, FANCL, MAP2K5, and GPRC5B genes (according to Genotype-Tissue Expression (GTEx) (http://www.gtexportal.org/)).
| chr | SNP | Gene | Gene expression | Reference allele | Alternative allele | Effect Size (β) | Tissue | |
|---|---|---|---|---|---|---|---|---|
| 1 | rs1514175 | A | G | 0.25 | 0.0000045 | Thyroid | ||
| 2 | rs713586 | T | C | 0.31 | 0.00000018 | Skin - Sun Exposed (Lower leg) | ||
| rs713586 | T | C | 0.71 | 2.9E-38 | Whole Blood | |||
| rs713586 | T | C | 0.51 | 5.3E-22 | Whole Blood | |||
| rs713586 | T | C | −0.23 | 0.0000000000000063 | Nerve - Tibial | |||
| rs713586 | T | C | 0.28 | 0.00000000000031 | Artery - Tibial | |||
| rs713586 | T | C | −0.2 | 0.00000000012 | Nerve - Tibial | |||
| rs713586 | T | C | 0.29 | 0.0000000003 | Whole Blood | |||
| rs713586 | T | C | −0.27 | 0.0000000014 | Esophagus - Muscularis | |||
| rs713586 | T | C | −0.39 | 0.0000000042 | Brain - Cerebellum | |||
| rs713586 | T | C | 0.23 | 0.0000000091 | Artery - Tibial | |||
| rs713586 | T | C | 0.18 | 0.000000014 | Adipose - Subcutaneous | |||
| rs713586 | T | C | −0.41 | 0.00000015 | Cells - EBV-transformed lymphocytes | |||
| rs713586 | T | C | 0.23 | 0.00000024 | Lung | |||
| rs713586 | T | C | 0.18 | 0.0000006 | Adipose - Visceral (Omentum) | |||
| rs713586 | T | C | −0.15 | 0.00000079 | Skin - Sun Exposed (Lower leg) | |||
| rs713586 | T | C | 0.18 | 0.0000011 | Adipose - Subcutaneous | |||
| rs713586 | T | C | 0.23 | 0.0000015 | Adipose - Visceral (Omentum) | |||
| rs713586 | T | C | −0.33 | 0.0000026 | Pituitary | |||
| rs713586 | T | C | −0.14 | 0.000004 | Skin - Not Sun Exposed (Suprapubic) | |||
| rs713586 | T | C | −0.15 | 0.000016 | Nerve - Tibial | |||
| rs713586 | T | C | 0.19 | 0.000031 | Lung | |||
| rs713586 | T | C | −0.21 | 0.000031 | Heart - Atrial Appendage | |||
| 15 | rs2241423 | G | A | −0.32 | 4.1E-19 | Artery - Tibial | ||
| rs2241423 | G | A | −0.4 | 0.0000000000000029 | Heart - Atrial Appendage | |||
| rs2241423 | G | A | −0.32 | 0.000000000000012 | Adipose - Subcutaneous | |||
| rs2241423 | G | A | −0.27 | 0.0000000000001 | Thyroid | |||
| rs2241423 | G | A | −0.3 | 0.0000000000019 | Lung | |||
| rs2241423 | G | A | −0.32 | 0.0000000000035 | Thyroid | |||
| rs2241423 | G | A | −0.3 | 0.000000000014 | Muscle - Skeletal | |||
| rs2241423 | G | A | −0.26 | 0.000000000015 | Whole Blood | |||
| rs2241423 | G | A | −0.4 | 0.000000000073 | Heart - Left Ventricle | |||
| rs2241423 | G | A | −0.29 | 0.00000000021 | Adipose - Subcutaneous | |||
| rs2241423 | G | A | −0.35 | 0.00000000037 | Adipose - Visceral (Omentum) | |||
| rs2241423 | G | A | −0.28 | 0.00000000092 | Esophagus - Muscularis | |||
| rs2241423 | G | A | −0.26 | 0.0000000014 | Artery - Tibial | |||
| rs2241423 | G | A | −0.23 | 0.0000000062 | Skin - Sun Exposed (Lower leg) | |||
| rs2241423 | G | A | −0.22 | 0.0000000094 | Lung | |||
| rs2241423 | G | A | −0.29 | 0.000000011 | Artery - Aorta | |||
| rs2241423 | G | A | −0.25 | 0.000000019 | Skin - Not Sun Exposed (Suprapubic) | |||
| rs2241423 | G | A | −0.27 | 0.000000054 | Nerve - Tibial | |||
| rs2241423 | G | A | −0.2 | 0.000000095 | Nerve - Tibial | |||
| rs2241423 | G | A | −0.32 | 0.00000011 | Artery - Aorta | |||
| rs2241423 | G | A | −0.27 | 0.00000012 | Adipose - Visceral (Omentum) | |||
| rs2241423 | G | A | −0.48 | 0.00000013 | Pituitary | |||
| rs2241423 | G | A | −0.3 | 0.00000013 | Breast - Mammary Tissue | |||
| rs2241423 | G | A | −0.24 | 0.00000018 | Esophagus - Muscularis | |||
| rs2241423 | G | A | −0.25 | 0.00000019 | Breast - Mammary Tissue | |||
| rs2241423 | G | A | −0.23 | 0.0000009 | Heart - Left Ventricle | |||
| rs2241423 | G | A | −0.29 | 0.0000063 | Esophagus - Gastroesophageal Junction | |||
| rs2241423 | G | A | −0.51 | 0.000011 | Ovary | |||
| rs2241423 | G | A | −0.25 | 0.000012 | Colon - Sigmoid | |||
| rs2241423 | G | A | −0.27 | 0.000013 | Esophagus - Gastroesophageal Junction | |||
| rs2241423 | G | A | −0.2 | 0.000016 | Colon - Transverse | |||
| rs2241423 | G | A | −0.38 | 0.000017 | Pituitary | |||
| rs2241423 | G | A | −0.29 | 0.00004 | Thyroid | |||
| 16 | rs12444979 | C | T | 0.64 | 0.00000000000037 | Adipose - Subcutaneous | ||
| rs12444979 | C | T | 0.81 | 0.00000000000000049 | Adipose - Visceral (Omentum) | |||
| rs12444979 | C | T | 0.66 | 0.00000000012 | Adrenal Gland | |||
| rs12444979 | C | T | 0.78 | 0.000000000000000043 | Artery - Aorta | |||
| rs12444979 | C | T | 0.67 | 0.0000000033 | Artery - Coronary | |||
| rs12444979 | C | T | 0.43 | 0.0000026 | Artery - Tibial | |||
| rs12444979 | C | T | 0.77 | 0.0000067 | Brain - Cerebellum | |||
| rs12444979 | C | T | 0.89 | 0.0000000056 | Brain - Hypothalamus | |||
| rs12444979 | C | T | 0.82 | 0.0000009 | Brain - Nucleus accumbens (basal ganglia) | |||
| rs12444979 | C | T | 0.81 | 0.00000000000071 | Breast - Mammary Tissue | |||
| rs12444979 | C | T | 0.73 | 0.0000015 | Cells - EBV-transformed lymphocytes | |||
| rs12444979 | C | T | 0.69 | 0.000000062 | Colon - Sigmoid | |||
| rs12444979 | C | T | 0.51 | 0.0000000005 | Colon - Transverse | |||
| rs12444979 | C | T | 0.89 | 0.00000000000000071 | Esophagus - Gastroesophageal Junction | |||
| rs12444979 | C | T | 0.58 | 0.00000000000000021 | Esophagus - Mucosa | |||
| rs12444979 | C | T | 0.75 | 1.6E-19 | Esophagus - Muscularis | |||
| rs12444979 | C | T | 0.73 | 0.000000005 | Heart - Atrial Appendage | |||
| rs12444979 | C | T | 0.56 | 0.00000035 | Heart - Left Ventricle | |||
| rs12444979 | C | T | 0.65 | 0.00000000000000011 | Lung | |||
| rs12444979 | C | T | 0.73 | 2.00E-20 | Muscle - Skeletal | |||
| rs12444979 | C | T | 0.91 | 0.00000000000000013 | Nerve - Tibial | |||
| rs12444979 | C | T | 1 | 0.000000042 | Ovary | |||
| rs12444979 | C | T | 1 | 0.000000000000029 | Pancreas | |||
| rs12444979 | C | T | 0.92 | 0.000000000000016 | Skin - Not Sun Exposed (Suprapubic) | |||
| rs12444979 | C | T | 0.79 | 4.1E-21 | Skin - Sun Exposed (Lower leg) | |||
| rs12444979 | C | T | 0.95 | 0.000000059 | Spleen | |||
| rs12444979 | C | T | 0.67 | 0.000000000000019 | Stomach | |||
| rs12444979 | C | T | 0.55 | 0.000000000058 | Testis | |||
| rs12444979 | C | T | 0.58 | 0.000000000006 | Thyroid | |||
| rs12444979 | C | T | 0.77 | 0.0000015 | Vagina | |||
| rs12444979 | C | T | 0.35 | 0.000011 | Whole Blood | |||
| rs12444979 | C | T | −0.25 | 0.000046 | Adipose - Subcutaneous |
Specifications Table
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| Data accessibility |
The frequencies of alleles and genotypes of rs1514175 The genetic polymorphisms in The data on the allele and genotype frequencies are an important resource for understanding genetic structure of different populations. The data can be used to study a genetic basis of body mass index and BMI-associated multifactorial diseases (obesity, arterial hypertension, metabolic syndrome, stroke, coronary artery disease, uterine leiomyoma, and the others) in various populations. |