Association of the lead variants at 23 known loci with natural log-transformed plasma fibrinogen concentration (g/l)
| Locus . | Variant . | Position . | Closest gene . | eQTL . | NSYN variants . | A1/A2 . | Frequency . | β . | P-values . |
|---|---|---|---|---|---|---|---|---|---|
| 1p31.3 | rs1892534 | 66 105 944 | LEPR | T/C | 0.38 | −0.0073 | 4.3 × 10−15 | ||
| 1q21.3 | rs61812598 | 154 420 087 | IL6R | IL6R | A/G | 0.39 | −0.0115 | 2.7 × 10−36 | |
| 1q44 | rs10157379 | 247 605 599 | NLRP3 | NLRP3 | C/T | 0.38 | −0.0103 | 6.3 × 10−29 | |
| 2q12 | rs1558643 | 102 731 691 | IL1R1 | T/C | 0.40 | 0.0058 | 3.1 × 10−10 | ||
| 2q13 | rs6734238 | 113 841 030 | IL1F10 | IL1RN | G/A | 0.41 | 0.0106 | 6.7 × 10−30 | |
| 2q34 | rs715 | 211 543 055 | CPS1 | CPS1 | C/T | 0.32 | −0.0082 | 4.3 × 10−16 | |
| 2q37.3 | rs59104589 | 242 237 902 | HDLBP | STK25 | T/C | 0.34 | −0.0083 | 8.2 × 10−19 | |
| 3q22.2 | rs9840812 | 135 843 162 | PPP2R3A | PCCB | C/T | 0.23 | 0.0117 | 1.7 × 10−27 | |
| 4p16.3 | rs59950280 | 3 452 345 | HGFAC | A/G | 0.34 | 0.0075 | 1.7 × 10−12 | ||
| 4q31.3 | rs7439150 | 155 481 541 | FGB | FBG | A/G | 0.20 | 0.0313 | 9.5 × 10−181 | |
| 5q31.1 | rs2057655 | 131 807 624 | C5orf56 | SLC22A4 | A/G | 0.21 | −0.0203 | 1.8 × 10−73 | |
| 7p21.1 | 7:17904452 | 17 904 452 | SNX13 | R/D | 0.48 | 0.0067 | 1.3 × 10−13 | ||
| 7p15.3 | rs71520386 | 22 853 521 | TOMM7 | T/C | 0.20 | 0.0066 | 5.1 × 10−09 | ||
| 8q24.3 | rs11780978 | 145 034 852 | PLEC | GRINA | A/G | 0.40 | 0.0059 | 5.5 × 10−10 | |
| 10q21.3 | rs7916868 | 64 988 931 | JMJD1C | A/T | 0.49 | 0.0089 | 1.6 × 10−22 | ||
| 11q12.2 | rs11230201 | 59 996 994 | MS4A6A | MS4A6A | G/C | 0.41 | −0.0057 | 4.5 × 10−10 | |
| 12q13.12 | rs2731439 | 51 060 350 | DIP2B | DIP2B | T/C | 0.36 | −0.0064 | 8.7 × 10−12 | |
| 14q24.1 | rs367677 | 69 273 090 | ZFP36L1 | G/A | 0.22 | 0.0077 | 1.8 × 10−12 | ||
| 15q21.2 | rs12913259 | 51 014 716 | SPPL2A | T/C | 0.30 | −0.0068 | 2.3 × 10−12 | ||
| 16q12.2 | rs11859517 | 53 181 247 | CHD9 | T/C | 0.29 | −0.0074 | 8.9 × 10−14 | ||
| 20q13.12 | rs1800961 | 43 042 364 | HNF4A | HNF4A | T/C | 0.03 | −0.0170 | 1.2 × 10−10 | |
| 21q22.2 | rs9808651 | 40 466 468 | PSMG1 | A/G | 0.27 | −0.0095 | 2.5 × 10−20 | ||
| 22q13.33 | rs75347843 | 51 112 361 | SHANK3 | ARSA | A/G | 0.19 | 0.0084 | 1.8 × 10−10 |
| Locus . | Variant . | Position . | Closest gene . | eQTL . | NSYN variants . | A1/A2 . | Frequency . | β . | P-values . |
|---|---|---|---|---|---|---|---|---|---|
| 1p31.3 | rs1892534 | 66 105 944 | LEPR | T/C | 0.38 | −0.0073 | 4.3 × 10−15 | ||
| 1q21.3 | rs61812598 | 154 420 087 | IL6R | IL6R | A/G | 0.39 | −0.0115 | 2.7 × 10−36 | |
| 1q44 | rs10157379 | 247 605 599 | NLRP3 | NLRP3 | C/T | 0.38 | −0.0103 | 6.3 × 10−29 | |
| 2q12 | rs1558643 | 102 731 691 | IL1R1 | T/C | 0.40 | 0.0058 | 3.1 × 10−10 | ||
| 2q13 | rs6734238 | 113 841 030 | IL1F10 | IL1RN | G/A | 0.41 | 0.0106 | 6.7 × 10−30 | |
| 2q34 | rs715 | 211 543 055 | CPS1 | CPS1 | C/T | 0.32 | −0.0082 | 4.3 × 10−16 | |
| 2q37.3 | rs59104589 | 242 237 902 | HDLBP | STK25 | T/C | 0.34 | −0.0083 | 8.2 × 10−19 | |
| 3q22.2 | rs9840812 | 135 843 162 | PPP2R3A | PCCB | C/T | 0.23 | 0.0117 | 1.7 × 10−27 | |
| 4p16.3 | rs59950280 | 3 452 345 | HGFAC | A/G | 0.34 | 0.0075 | 1.7 × 10−12 | ||
| 4q31.3 | rs7439150 | 155 481 541 | FGB | FBG | A/G | 0.20 | 0.0313 | 9.5 × 10−181 | |
| 5q31.1 | rs2057655 | 131 807 624 | C5orf56 | SLC22A4 | A/G | 0.21 | −0.0203 | 1.8 × 10−73 | |
| 7p21.1 | 7:17904452 | 17 904 452 | SNX13 | R/D | 0.48 | 0.0067 | 1.3 × 10−13 | ||
| 7p15.3 | rs71520386 | 22 853 521 | TOMM7 | T/C | 0.20 | 0.0066 | 5.1 × 10−09 | ||
| 8q24.3 | rs11780978 | 145 034 852 | PLEC | GRINA | A/G | 0.40 | 0.0059 | 5.5 × 10−10 | |
| 10q21.3 | rs7916868 | 64 988 931 | JMJD1C | A/T | 0.49 | 0.0089 | 1.6 × 10−22 | ||
| 11q12.2 | rs11230201 | 59 996 994 | MS4A6A | MS4A6A | G/C | 0.41 | −0.0057 | 4.5 × 10−10 | |
| 12q13.12 | rs2731439 | 51 060 350 | DIP2B | DIP2B | T/C | 0.36 | −0.0064 | 8.7 × 10−12 | |
| 14q24.1 | rs367677 | 69 273 090 | ZFP36L1 | G/A | 0.22 | 0.0077 | 1.8 × 10−12 | ||
| 15q21.2 | rs12913259 | 51 014 716 | SPPL2A | T/C | 0.30 | −0.0068 | 2.3 × 10−12 | ||
| 16q12.2 | rs11859517 | 53 181 247 | CHD9 | T/C | 0.29 | −0.0074 | 8.9 × 10−14 | ||
| 20q13.12 | rs1800961 | 43 042 364 | HNF4A | HNF4A | T/C | 0.03 | −0.0170 | 1.2 × 10−10 | |
| 21q22.2 | rs9808651 | 40 466 468 | PSMG1 | A/G | 0.27 | −0.0095 | 2.5 × 10−20 | ||
| 22q13.33 | rs75347843 | 51 112 361 | SHANK3 | ARSA | A/G | 0.19 | 0.0084 | 1.8 × 10−10 |
eQTL indicates the gene with the strongest significant association between its expression levels in blood and the lead variant or its proxy. NSYN variants indicates genes containing non-synonymous variant correlated to the lead variant (R2 > 0.9). A1 indicates the coded allele. A2 indicates the other allele. Frequency is the frequency of the coded allele. β indicates the β-coefficient adjusted for age, sex, population structure and study-specific covariates, such as center or case/control status. The β-coefficient can be interpreted as the ln(g/l) change in fibrinogen per 1 unit change in the dosage of the coded allele.
Association of the lead variants at 23 known loci with natural log-transformed plasma fibrinogen concentration (g/l)
| Locus . | Variant . | Position . | Closest gene . | eQTL . | NSYN variants . | A1/A2 . | Frequency . | β . | P-values . |
|---|---|---|---|---|---|---|---|---|---|
| 1p31.3 | rs1892534 | 66 105 944 | LEPR | T/C | 0.38 | −0.0073 | 4.3 × 10−15 | ||
| 1q21.3 | rs61812598 | 154 420 087 | IL6R | IL6R | A/G | 0.39 | −0.0115 | 2.7 × 10−36 | |
| 1q44 | rs10157379 | 247 605 599 | NLRP3 | NLRP3 | C/T | 0.38 | −0.0103 | 6.3 × 10−29 | |
| 2q12 | rs1558643 | 102 731 691 | IL1R1 | T/C | 0.40 | 0.0058 | 3.1 × 10−10 | ||
| 2q13 | rs6734238 | 113 841 030 | IL1F10 | IL1RN | G/A | 0.41 | 0.0106 | 6.7 × 10−30 | |
| 2q34 | rs715 | 211 543 055 | CPS1 | CPS1 | C/T | 0.32 | −0.0082 | 4.3 × 10−16 | |
| 2q37.3 | rs59104589 | 242 237 902 | HDLBP | STK25 | T/C | 0.34 | −0.0083 | 8.2 × 10−19 | |
| 3q22.2 | rs9840812 | 135 843 162 | PPP2R3A | PCCB | C/T | 0.23 | 0.0117 | 1.7 × 10−27 | |
| 4p16.3 | rs59950280 | 3 452 345 | HGFAC | A/G | 0.34 | 0.0075 | 1.7 × 10−12 | ||
| 4q31.3 | rs7439150 | 155 481 541 | FGB | FBG | A/G | 0.20 | 0.0313 | 9.5 × 10−181 | |
| 5q31.1 | rs2057655 | 131 807 624 | C5orf56 | SLC22A4 | A/G | 0.21 | −0.0203 | 1.8 × 10−73 | |
| 7p21.1 | 7:17904452 | 17 904 452 | SNX13 | R/D | 0.48 | 0.0067 | 1.3 × 10−13 | ||
| 7p15.3 | rs71520386 | 22 853 521 | TOMM7 | T/C | 0.20 | 0.0066 | 5.1 × 10−09 | ||
| 8q24.3 | rs11780978 | 145 034 852 | PLEC | GRINA | A/G | 0.40 | 0.0059 | 5.5 × 10−10 | |
| 10q21.3 | rs7916868 | 64 988 931 | JMJD1C | A/T | 0.49 | 0.0089 | 1.6 × 10−22 | ||
| 11q12.2 | rs11230201 | 59 996 994 | MS4A6A | MS4A6A | G/C | 0.41 | −0.0057 | 4.5 × 10−10 | |
| 12q13.12 | rs2731439 | 51 060 350 | DIP2B | DIP2B | T/C | 0.36 | −0.0064 | 8.7 × 10−12 | |
| 14q24.1 | rs367677 | 69 273 090 | ZFP36L1 | G/A | 0.22 | 0.0077 | 1.8 × 10−12 | ||
| 15q21.2 | rs12913259 | 51 014 716 | SPPL2A | T/C | 0.30 | −0.0068 | 2.3 × 10−12 | ||
| 16q12.2 | rs11859517 | 53 181 247 | CHD9 | T/C | 0.29 | −0.0074 | 8.9 × 10−14 | ||
| 20q13.12 | rs1800961 | 43 042 364 | HNF4A | HNF4A | T/C | 0.03 | −0.0170 | 1.2 × 10−10 | |
| 21q22.2 | rs9808651 | 40 466 468 | PSMG1 | A/G | 0.27 | −0.0095 | 2.5 × 10−20 | ||
| 22q13.33 | rs75347843 | 51 112 361 | SHANK3 | ARSA | A/G | 0.19 | 0.0084 | 1.8 × 10−10 |
| Locus . | Variant . | Position . | Closest gene . | eQTL . | NSYN variants . | A1/A2 . | Frequency . | β . | P-values . |
|---|---|---|---|---|---|---|---|---|---|
| 1p31.3 | rs1892534 | 66 105 944 | LEPR | T/C | 0.38 | −0.0073 | 4.3 × 10−15 | ||
| 1q21.3 | rs61812598 | 154 420 087 | IL6R | IL6R | A/G | 0.39 | −0.0115 | 2.7 × 10−36 | |
| 1q44 | rs10157379 | 247 605 599 | NLRP3 | NLRP3 | C/T | 0.38 | −0.0103 | 6.3 × 10−29 | |
| 2q12 | rs1558643 | 102 731 691 | IL1R1 | T/C | 0.40 | 0.0058 | 3.1 × 10−10 | ||
| 2q13 | rs6734238 | 113 841 030 | IL1F10 | IL1RN | G/A | 0.41 | 0.0106 | 6.7 × 10−30 | |
| 2q34 | rs715 | 211 543 055 | CPS1 | CPS1 | C/T | 0.32 | −0.0082 | 4.3 × 10−16 | |
| 2q37.3 | rs59104589 | 242 237 902 | HDLBP | STK25 | T/C | 0.34 | −0.0083 | 8.2 × 10−19 | |
| 3q22.2 | rs9840812 | 135 843 162 | PPP2R3A | PCCB | C/T | 0.23 | 0.0117 | 1.7 × 10−27 | |
| 4p16.3 | rs59950280 | 3 452 345 | HGFAC | A/G | 0.34 | 0.0075 | 1.7 × 10−12 | ||
| 4q31.3 | rs7439150 | 155 481 541 | FGB | FBG | A/G | 0.20 | 0.0313 | 9.5 × 10−181 | |
| 5q31.1 | rs2057655 | 131 807 624 | C5orf56 | SLC22A4 | A/G | 0.21 | −0.0203 | 1.8 × 10−73 | |
| 7p21.1 | 7:17904452 | 17 904 452 | SNX13 | R/D | 0.48 | 0.0067 | 1.3 × 10−13 | ||
| 7p15.3 | rs71520386 | 22 853 521 | TOMM7 | T/C | 0.20 | 0.0066 | 5.1 × 10−09 | ||
| 8q24.3 | rs11780978 | 145 034 852 | PLEC | GRINA | A/G | 0.40 | 0.0059 | 5.5 × 10−10 | |
| 10q21.3 | rs7916868 | 64 988 931 | JMJD1C | A/T | 0.49 | 0.0089 | 1.6 × 10−22 | ||
| 11q12.2 | rs11230201 | 59 996 994 | MS4A6A | MS4A6A | G/C | 0.41 | −0.0057 | 4.5 × 10−10 | |
| 12q13.12 | rs2731439 | 51 060 350 | DIP2B | DIP2B | T/C | 0.36 | −0.0064 | 8.7 × 10−12 | |
| 14q24.1 | rs367677 | 69 273 090 | ZFP36L1 | G/A | 0.22 | 0.0077 | 1.8 × 10−12 | ||
| 15q21.2 | rs12913259 | 51 014 716 | SPPL2A | T/C | 0.30 | −0.0068 | 2.3 × 10−12 | ||
| 16q12.2 | rs11859517 | 53 181 247 | CHD9 | T/C | 0.29 | −0.0074 | 8.9 × 10−14 | ||
| 20q13.12 | rs1800961 | 43 042 364 | HNF4A | HNF4A | T/C | 0.03 | −0.0170 | 1.2 × 10−10 | |
| 21q22.2 | rs9808651 | 40 466 468 | PSMG1 | A/G | 0.27 | −0.0095 | 2.5 × 10−20 | ||
| 22q13.33 | rs75347843 | 51 112 361 | SHANK3 | ARSA | A/G | 0.19 | 0.0084 | 1.8 × 10−10 |
eQTL indicates the gene with the strongest significant association between its expression levels in blood and the lead variant or its proxy. NSYN variants indicates genes containing non-synonymous variant correlated to the lead variant (R2 > 0.9). A1 indicates the coded allele. A2 indicates the other allele. Frequency is the frequency of the coded allele. β indicates the β-coefficient adjusted for age, sex, population structure and study-specific covariates, such as center or case/control status. The β-coefficient can be interpreted as the ln(g/l) change in fibrinogen per 1 unit change in the dosage of the coded allele.
This PDF is available to Subscribers Only
View Article Abstract & Purchase OptionsFor full access to this pdf, sign in to an existing account, or purchase an annual subscription.
