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Familial risk of CRSwNP and CRSsNP

TABLE 1. Characteristics of CRSwNP and CRSsNP case probands and 5:1 matched controls in Utah

CRSwNP probands

CRSwNP controls (5:1)

CRSsNP probands

CRSsNP controls (5:1)

Characteristic

n

(%)

n

(%)

n

(%)

n

(%)

Total

1,638

(100.0)

8,189

(100.0)

24,200

(100.0)

121,000

(100.0)

Men

897

(54.8)

4,485

(54.8)

11,570

(47.8)

57,850

(47.8)

Women

741

(45.2)

3,704

(45.2)

12,630

(52.2)

63,150

(52.2)

Race

White

1,558

(95.1)

7,066

(86.3)

23,051

(95.3)

105,853

(87.5)

Non-White

80

(4.9)

1,123

(13.7)

1,149

(4.7)

15,147

(12.5)

Ethnicity

Non-Hispanic/Latino

1,547

(94.4)

7,549

(92.2)

23,018

(95.1)

111,731

(92.3)

Hispanic or Latino

91

(5.6)

640

(7.8)

1,182

(4.9)

9,269

(7.7)

Age at diagnosis/selection, years, mean (SD)

44

(16)

44

(16)

43

(15)

43

(15)

Range

18–96

18–96

18–94

18–94

First-degree relatives per case/control

4.2

4.1

4.0

3.9

Second-degree relatives per case/control

8.9

8.8

6.6

6.3

First-cousin relatives per case/control

10.4

10.4

10.0

9.5

CRSsNP = chronic rhinosinusitis without nasal polyposis; CRSwNP = chronic rhinosinusitis with nasal polyposis; SD = standard deviation. TABLE 2. Familial risk of CRSwNP and CRSsNP in Utah*

Relatives of probands

Relatives of controls

Relationship

Affected

Unaffected

Affected

Unaffected

HR

95% CI

p

Risk of CRSwNP in relatives of 1638 CRSwNP probands (compared to 8189 controls) First-degree relatives

13

6,889

15

33,115

4.1

1.8–9.4

< 0.001

Second-degree relatives

10

14,513

15

71,910

3.3

1.5–7.5

0.004

First cousins (third-degree)

14

16,973

44

84,907

1.6

0.9–2.9

0.14

Spouses

0

1,267

7

5,774

0

0

–

Risk of CRSsNP in relatives of 24,200 CRSsNP probands (compared to 121,000 matched controls) First-degree relatives

< 1 × 10 − 15 < 1 × 10 − 15 < 1 × 10 − 7 < 1 × 10 − 15

2,758

94,691

5,481

459,964

2.4

2.3–2.6

Second-degree relatives

1,305

101,267

7,197

761,101

1.4

1.3–1.4

Third-degree (first cousins)

1,756

132,294

13,812

1,138,399

1.1

1.1–1.2

Spouses

542

18,376

1,282

86,370

2.0

1.8–2.2

*Cases compared to controls matched 5:1 on sex and birth year. CI = confidence interval; CRSsNP = chronic rhinosinusitis without nasal polyposis; CRSwNP = chronic rhinosinusitis with nasal polyposis; HR = hazard rate ratio from Cox model.

that CRSwNP demonstrates a high familial relative risk in 1stDRs, at 4.1-fold. The strengths of our study include the use of a unique ge- nealogical and research database with extensive data linked to medical records, making this the largest population study

of these findings is unclear. In 2 prior studies that looked directly at the heritability of nasal polyposis in their patient population, 14% to 15% of patients with CRSwNP were reported to have at least 1 first-degree relative with the same diagnosis. 5,6 Consistent with these results, we also observed

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