[Risk factors of familial gallstone disease: study of 135 pedigrees].
OBJECTIVE
To explore the role of both inheritable and epidemiological factors in the pathogenesis of familial gallstone disease in pedigrees.


METHODS
135 pedigrees, with 695 members aged > or = 18 (18 - 83, with a mean of 50 +/- 14), 282 males and 413 females, including 370 patients, at least one patient existing in every generation, were investigated. Inquiry was carried out to collect the personal and medical history. Physical examination and ultrasonography were conducted. Blood samples were collected to detect the total cholesterol (TCh), triglyceride (TG), high-density lipoprotein cholesterol (HDL-Ch), and apolipoprotein (Apo) A1 and ApoB. The concentration of low-density lipoprotein cholesterol (LDL-Ch) was calculated by the formula: Tch-TG/5 + HDL-Ch. The inheritable characteristics and heritability were analyzed.


RESULTS
The prevalence of gallstone disease was 53.24%, 56.66% among the females, significantly higher than that among the males (48.23%, P = 0.03). The heritability in the first-degree relatives was 138% +/- 7%, and the concordance rate of monozygotic twins was 100%. The significant risk factors were female gender (P = 0.03), body mass index (P < 0.01) and diet (P < 0.008). The history of hypertension, hyperlipidemia, and diabetes were correlated to gallstone disease (P = 0.008, < 0.008, and 0.03 respectively). Serum HDL-Ch and ApoA1 concentrations were lower in the stone group than in the non-stone group (P = 0.003 and 0.005 respectively). There were no significant differences in TCh, TG, LDL-Ch, and ApoB between the 2 groups.


CONCLUSIONS
Genetic factors play a major role in the pathogenesis of familial gallstone disease, characterized by autosomal dominant inheritance. Female gender, obesity, diet, hypertension, hyperlipidemia, diabetes may be the risk factors of gallstone disease. Dyslipidemia is a characteristic of gallstone disease.
Qin
Jian
J
Department of Surgery, Ruijin Hospital, Shanghai Second Medical University, Shanghai Institute of Digestive Surgery, Shanghai 200025, China.
Han
Tian-quan
TQ
Fei
Jian
J
Jiang
Zhao-yan
ZY
Zhang
Yu
Y
Yang
Shi-yong
SY
Jiang
Zhi-hong
ZH
Cai
Xing-xing
XX
Huang
Wei
W
Zhang
Sheng-dao
SD
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002681:China / Q000453:epidemiology; D005192:Family Health; D005260:Female; D042882:Gallstones / Q000453:epidemiology* / Q000209:etiology / Q000235:genetics*; D006801:Humans; D006949:Hyperlipidemias / Q000150:complications; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000150:complications; D012307:Risk Factors; D012737:Sex Factors